ClinVar Miner

Submissions for variant Single allele (rs1553673680)

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Total submissions: 1775
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171541 SCV000221740 likely pathogenic not provided criteria provided, single submitter research
Dobyns Lab,Seattle Children's Research Institute RCV000191932 SCV000246158 pathogenic Poretti-Boltshauser syndrome 2014-11-25 criteria provided, single submitter research
GeneDx RCV000197797 SCV000252071 likely benign not specified 2012-12-04 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
GeneDx RCV000199743 SCV000252072 likely benign not specified 2013-05-05 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
GeneDx RCV000199963 SCV000252075 uncertain significance not specified 2014-10-20 criteria provided, single submitter clinical testing The L169V variant of unknown significance has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The L169V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids similar to Leucine are conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000199878 SCV000253761 pathogenic Hereditary cutaneous melanoma 2017-01-16 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CDKN2A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in CDKN2A are known to be pathogenic. Whole-gene deletions have been reported to segregate with melanoma and nervous system tumors in two independent families (PMID: 9622062). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000197635 SCV000253897 pathogenic Familial cancer of breast 2016-07-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CHEK2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this particular variant has not been reported in the literature, truncating variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.
Shaikh Laboratory, University of Colorado RCV000208701 SCV000255631 likely pathogenic not provided 2015-10-22 criteria provided, single submitter research Mode of Inheritance: Other-Haploinsuficiency
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000202645 SCV000256747 pathogenic CHARGE association 2013-12-01 criteria provided, single submitter research Pathogenic based on a complex genomic rearrangement resulting in deletion of exon 7 of CHD7 in an 8-year-old female with a clinical phenotype consistent with CHARGE (Tetralogy of Fallot, retinal colobomas, sensorineural hearing loss, choanal atresia).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203260 SCV000256750 pathogenic Charcot-Marie-Tooth disease, type 4D 2013-05-21 criteria provided, single submitter research NDRG1 is a known gene causing recessive CMT4D. This study showed a homozygous intragenic duplication in NDRG1.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210429 SCV000256763 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 2014-07-16 criteria provided, single submitter research segregates with the phenotype in an affected family
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust RCV000210049 SCV000257461 pathogenic Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2015-08-25 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203452 SCV000258328 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203475 SCV000258329 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203496 SCV000258330 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203458 SCV000258331 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203474 SCV000258332 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203463 SCV000258334 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203486 SCV000258335 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203493 SCV000258336 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203462 SCV000258337 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203484 SCV000258338 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203447 SCV000258339 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203468 SCV000258340 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203483 SCV000258341 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203451 SCV000258342 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203466 SCV000258343 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203489 SCV000258344 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203456 SCV000258345 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203472 SCV000258346 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203487 SCV000258347 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203478 SCV000258349 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203499 SCV000258350 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203453 SCV000258351 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203476 SCV000258352 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203497 SCV000258353 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203460 SCV000258354 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203481 SCV000258355 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203495 SCV000258356 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203464 SCV000258357 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203480 SCV000258358 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203449 SCV000258359 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203485 SCV000258361 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203448 SCV000258362 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203469 SCV000258363 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203491 SCV000258364 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203459 SCV000258365 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203467 SCV000258366 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203490 SCV000258367 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203457 SCV000258368 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203473 SCV000258369 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203488 SCV000258370 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203455 SCV000258371 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203479 SCV000258372 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203492 SCV000258373 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203477 SCV000258375 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203498 SCV000258376 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203289 SCV000258388 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2014-02-06 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203294 SCV000258389 likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome 2014-02-06 criteria provided, single submitter research
Baylor Genetics RCV000240814 SCV000258399 pathogenic Cholestasis, progressive familial intrahepatic 1 2015-12-17 criteria provided, single submitter clinical testing This variant was found in compound heterozygous status with another pathogenic insertion variant in two affected members of a Caucasian family
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210394 SCV000258457 pathogenic Chromosome 17p13.1 deletion syndrome 2015-11-06 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210404 SCV000258458 pathogenic Chromosome 17p13.1 deletion syndrome 2015-11-06 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210387 SCV000258459 pathogenic Chromosome 17p13.1 deletion syndrome 2015-11-06 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210397 SCV000258460 pathogenic Chromosome 17p13.1 deletion syndrome 2015-11-06 criteria provided, single submitter research
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn RCV000417195 SCV000262654 likely pathogenic Currarino triad criteria provided, single submitter research Large de novo duplication in a patient with negative family history.
Elsea Laboratory,Baylor College of Medicine RCV000455872 SCV000264470 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000454803 SCV000264471 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000455222 SCV000264472 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000455812 SCV000264473 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000454759 SCV000264474 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000477897 SCV000264477 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000454618 SCV000264478 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000477751 SCV000264479 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000455254 SCV000264480 pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210384 SCV000266398 pathogenic Immunodeficiency 23 2014-07-03 criteria provided, single submitter research segregates with the phenotype in an affected family
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000210452 SCV000266536 pathogenic Loeys-Dietz syndrome 4 criteria provided, single submitter research
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000210464 SCV000266537 pathogenic Loeys-Dietz syndrome 4 criteria provided, single submitter research
Clinical Genetics, Erasmus University Medical Center RCV000416719 SCV000266743 pathogenic Abnormality of esophagus morphology 2015-12-15 criteria provided, single submitter research
Invitae RCV000210509 SCV000266799 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2016-10-22 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the VHL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire VHL gene have been reported in multiple individuals and families with von Hippel-Lindau disease (PMID: 10830910, 10567493, 8634692, 17537157, 20567917). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000210514 SCV000266808 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-06 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the BRCA1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in BRCA1 are known to be pathogenic. Gross deletions of the BRCA1 gene have been reported in families and individuals affected with breast/ovarian cancer (PMID: 17661172, 21989022, 22762150). For these reasons, this variant has been classified as Pathogenic.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000488894 SCV000267603 pathogenic not provided 2016-04-26 criteria provided, single submitter research compound heterozygous deletion identified in patient with congenital cataract, seizures, cerebellar and brainstem hypoplasia
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000488906 SCV000267604 pathogenic not provided 2016-04-26 criteria provided, single submitter research compound heterozygous deletion identified in patient with congenital cataract, seizures, cerebellar and brainstem hypoplasia
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210994 SCV000267676 likely pathogenic Stargardt disease 1 criteria provided, single submitter research identified in compound heterozygous state in affected individual/s with macular isease
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224569 SCV000281025 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Geschwind lab,University of California Los Angeles RCV000225569 SCV000282087 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225670 SCV000282088 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225439 SCV000282089 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225548 SCV000282090 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225681 SCV000282091 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225457 SCV000282092 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225542 SCV000282093 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225679 SCV000282094 likely pathogenic Autism spectrum disorder criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225451 SCV000282095 likely pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225595 SCV000282096 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225368 SCV000282097 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225469 SCV000282098 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225572 SCV000282099 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225402 SCV000282100 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225508 SCV000282101 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225645 SCV000282102 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225379 SCV000282103 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225522 SCV000282104 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225625 SCV000282105 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance.
Geschwind lab,University of California Los Angeles RCV000225436 SCV000282106 likely pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225546 SCV000282107 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225619 SCV000282108 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225434 SCV000282109 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225539 SCV000282110 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225676 SCV000282111 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225448 SCV000282112 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225559 SCV000282113 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225649 SCV000282114 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225471 SCV000282115 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225587 SCV000282116 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225404 SCV000282117 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225463 SCV000282118 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225607 SCV000282119 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225377 SCV000282120 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225525 SCV000282121 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225621 SCV000282122 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225398 SCV000282123 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225516 SCV000282124 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225620 SCV000282125 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225430 SCV000282126 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225540 SCV000282127 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225633 SCV000282128 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225410 SCV000282129 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225556 SCV000282130 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225671 SCV000282131 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225446 SCV000282132 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225549 SCV000282133 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225687 SCV000282134 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225459 SCV000282135 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225604 SCV000282136 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225659 SCV000282137 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance.
Geschwind lab,University of California Los Angeles RCV000225479 SCV000282138 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225596 SCV000282139 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225373 SCV000282140 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225512 SCV000282141 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225576 SCV000282142 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225386 SCV000282143 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225492 SCV000282144 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225630 SCV000282145 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225408 SCV000282146 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance.
Geschwind lab,University of California Los Angeles RCV000225528 SCV000282147 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research The CNV is pathogenic but didn’t cause the disorder in this individual due to incomplete penetrance.
Geschwind lab,University of California Los Angeles RCV000225629 SCV000282148 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225442 SCV000282149 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225550 SCV000282150 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225685 SCV000282151 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225421 SCV000282158 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225563 SCV000282159 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225663 SCV000282160 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225455 SCV000282161 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225599 SCV000282162 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225655 SCV000282163 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225476 SCV000282164 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225574 SCV000282165 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225391 SCV000282166 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225489 SCV000282167 likely pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225609 SCV000282168 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225382 SCV000282169 pathogenic Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225526 SCV000282170 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225626 SCV000282171 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225438 SCV000282172 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225497 SCV000282173 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225644 SCV000282174 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225420 SCV000282175 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225541 SCV000282176 association Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225635 SCV000282177 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225416 SCV000282178 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225562 SCV000282179 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225652 SCV000282180 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225468 SCV000282181 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225537 SCV000282182 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225674 SCV000282183 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225465 SCV000282184 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225606 SCV000282185 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225383 SCV000282186 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Geschwind lab,University of California Los Angeles RCV000225486 SCV000282187 uncertain significance Autism spectrum disorder 2015-10-12 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234859 SCV000291989 pathogenic MECP2 duplication syndrome 2015-03-13 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234878 SCV000291990 pathogenic MECP2 duplication syndrome 2015-03-13 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234882 SCV000291993 pathogenic Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 2014-03-27 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235056 SCV000292303 pathogenic Spondylocostal dysostosis 5 2015-11-15 criteria provided, single submitter research This variant was observed in 17 individuals with vertebral malformations and rib abnormalities. In each case it was found to be in trans with a high-risk TBX6 haplotype, T-C-A (rs2289292, rs3809624, rs3809627).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235073 SCV000292310 likely pathogenic Progressive myoclonus epilepsy with ataxia 2015-09-17 criteria provided, single submitter research This deletion was identified in a patient with seizures and neuropathy. There was no evidence of the deletion in parental samples, indicating that the CNV likely arose de novo in the patient. There are reports in the literature of heterozygous mutations in PRICKLE1 in patients with seizures (PMID: 21276947). The patient also has a de novo heterozygous variant in MFN2.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235059 SCV000292312 likely pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-09-17 criteria provided, single submitter research This duplication was identified in a patient with peripheral neuropathy. There is a report in the literature of MPZ duplication in an individual with peripheral neuropathy (PMID:21787890).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235046 SCV000292314 uncertain significance Peripheral neuropathy 2015-09-17 criteria provided, single submitter research This deletion was identified in an individual with peripheral neuropathy. There is no association in the literature between KIF24 and neuropathy. This individual also has an MFN2 pathogenic variant.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235057 SCV000292315 likely pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-09-17 criteria provided, single submitter research This deletion was identified in an individual with peripheral neuropathy.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235042 SCV000292317 pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 2015-11-12 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235066 SCV000292340 pathogenic Chromosome Xq26.3 duplication syndrome 2015-11-12 criteria provided, single submitter research XLAG is a newly described condition, which is rare and the phenotype is incompletely characterized, particularly in terms of clinical responses to treatment. The aim of this study was to clinically characterize X-LAG in an expanded cohort of 18 affected patients.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235052 SCV000292363 pathogenic Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 2015-08-18 criteria provided, single submitter research This copy number variation has been previously reported as disease-causing and was identified in a family with PHARC.
Clinical Cytogenomics Laboratory,Center for Precision Diagnostics, University of Washington RCV000258805 SCV000328543 pathogenic See cases 2016-09-20 criteria provided, single submitter clinical testing Trisomy 12 present in 25% of cells
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000318149 SCV000334678 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000273531 SCV000335444 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000283623 SCV000335875 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000337319 SCV000336997 likely pathogenic not provided 2015-10-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000349357 SCV000340741 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000299738 SCV000341602 uncertain significance not provided 2016-05-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000278127 SCV000341988 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000340414 SCV000343758 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393096 SCV000483466 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304800 SCV000483467 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341222 SCV000483468 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393119 SCV000483469 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310759 SCV000483470 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365436 SCV000483471 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261807 SCV000483973 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330899 SCV000483974 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285741 SCV000484314 benign Birk-Barel Intellectual Disability Dysmorphism Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000408813 SCV000484813 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000414385 SCV000490158 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000413848 SCV000490160 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000413941 SCV000490163 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000414056 SCV000490166 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000414677 SCV000490167 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000413276 SCV000490168 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000414143 SCV000490169 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000412747 SCV000490170 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000414007 SCV000490172 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000413482 SCV000490174 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000414360 SCV000490175 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000413209 SCV000490176 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000413580 SCV000490177 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414960 SCV000492733 pathogenic Renal cyst; Pancreatic cysts 2015-09-23 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000415472 SCV000493131 likely pathogenic Chromosome Xq26.3 duplication syndrome 2016-01-01 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000415468 SCV000493132 likely pathogenic Chromosome Xq26.3 duplication syndrome 2016-01-01 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000415470 SCV000493133 likely pathogenic Chromosome Xq26.3 duplication syndrome 2016-01-01 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000415471 SCV000493134 likely pathogenic Chromosome Xq26.3 duplication syndrome 2016-01-01 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000520873 SCV000494285 pathogenic Prader-Willi syndrome criteria provided, single submitter research This deletion of 15q11q13 is de novo and represents the typical recurrent type 2 deletion.
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000417025 SCV000494568 pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000416971 SCV000494569 pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426541 SCV000510962 uncertain significance not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000426740 SCV000511008 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454279 SCV000538074 pathogenic Hypoparathyroidism retardation dysmorphism syndrome 2016-04-08 criteria provided, single submitter clinical testing The heterozygous deletion of exons 3 and 4 that was detected by a single copy loss of 16 oligonucleotide probes spanning approximately 7,842 bp in the TBCE gene, Hg19 chr1: g.(235575072_235577473)_(235582954_235583424)del (NM_ 003193) has not been previously reported in an affected individual. TBCE is the only gene implicated in HRD and suggests that this disorder has a single gene etiology. The out-of-frame deletion leads to premature protein truncation. Deletions and truncation variants are common mechanisms of disease; the c.155-166del12 in the TBCE gene is considered the most common pathogenic variant for this condition (Kerkeni E et al., 2015). Based on these criteria, this CNV is interpreted at pathogenic. We have confirmed the findings using a custom exon-centric microarray.
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454326 SCV000538075 likely pathogenic Infantile nephronophthisis 2016-04-19 criteria provided, single submitter clinical testing A heterozygous deletion of the 5’-UTR and exons 1 and 2 was detected by a single copy loss of 117 oligonucleotide probes spanning approximately 139,883 bp in the INVS gene, Hg19 chr9: g.( 102814578_102860399)_(102967421_102968415)del (NM_ 001318381). This variant has not been previously reported in an affected individual. Exon 2, which is deleted in this CNV, contains the start codon, implying a loss of the initiation codon. Several frameshift and nonsense variants in this gene have been described in affected individuals (Tory K et al., 2009) suggesting that loss of functions is mechanism of disease. Based on these criteria, this CNV is interpreted at Likely Pathogenic. We have confirmed the findings using a custom exon-centric microarray.
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454211 SCV000538076 likely pathogenic Fanconi anemia, complementation group A 2016-04-01 criteria provided, single submitter clinical testing The c.1627-?_2778+?del deletion in the FANCA gene is novel, however, similar sized deletions in the same genomic vicinity have been previously reported as pathogenic (deletion of exons 18-25: Moghrabi et al. 2009) (deletion of exons 21-29: Castella et al., 2011). Mutations in the coding region of FANCA account for approximately 60-70% of Fanconi Anemia Complementation Group A (FA-A) patients, and approximately 10% of pathogenic mutations are large, multi-exonic deletions (Castella et al., 2011). This deletion encompasses amino acids 543-926 in the FANCA protein, and removes a portion of the BRCA-interacting region (amino acids 740-1083) as well as three important phosphoserines (amino acids 849, 850 and 858) (Folias et al., 2002). In addition, this deletion also disrupts a known nuclear export sequence (amino acids 860-880), which would effectively abolish protein transport from the nucleus to the cytoplasm (Ferrer et al., 2005). Therefore, this novel 11-exon deletion is expected to severely truncate the FANCA protein and compromise its function. The collective evidence supports the classification of the c.1627-?_2778+?del as a recessive likely pathogenic variant for Fanconi Anemia, Complementation Group A.
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454303 SCV000538077 likely pathogenic Fanconi anemia, complementation group A 2016-04-01 criteria provided, single submitter clinical testing The c.1627-?_2778+?del deletion in the FANCA gene is novel, however, similar sized deletions in the same genomic vicinity have been previously reported as pathogenic (deletion of exons 18-25: Moghrabi et al. 2009) (deletion of exons 21-29: Castella et al., 2011). Mutations in the coding region of FANCA account for approximately 60-70% of Fanconi Anemia Complementation Group A (FA-A) patients, and approximately 10% of pathogenic mutations are large, multi-exonic deletions (Castella et al., 2011). This deletion encompasses amino acids 543-926 in the FANCA protein, and removes a portion of the BRCA-interacting region (amino acids 740-1083) as well as three important phosphoserines (amino acids 849, 850 and 858) (Folias et al., 2002). In addition, this deletion also disrupts a known nuclear export sequence (amino acids 860-880), which would effectively abolish protein transport from the nucleus to the cytoplasm (Ferrer et al., 2005). Therefore, this novel 11-exon deletion is expected to severely truncate the FANCA protein and compromise its function. The collective evidence supports the classification of the c.1627-?_2778+?del as a recessive likely pathogenic variant for Fanconi Anemia, Complementation Group A.
Counsyl RCV000496588 SCV000579478 pathogenic Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 2016-11-08 criteria provided, single submitter clinical testing
Invitae RCV000492851 SCV000581397 pathogenic Hereditary breast and ovarian cancer syndrome 2016-12-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing the last 2712 nucleotides of exon 10 and all of exon 11 of the BRCA1 gene (c.1385_4186-2276del). The 5' breakpoint of this deletion is within exon 10 at nucleotide 1385, and the 3' breakpoint is within intron 11 at nucleotide 4186-2276. This creates a frameshift at residue 462 and is expected to result in an absent or disrupted protein product. A similar deletion involving exons 10-11, which in the literature are also known as exons 11-12, has been reported in an individual with breast cancer (PMID: 18703817). For these reasons, this variant has been classified as Pathogenic.
Yang An-Suei Laboratory,Academia Sinica RCV000504607 SCV000583426 pathogenic Neoplasm of the breast criteria provided, single submitter clinical testing
Counsyl RCV000499484 SCV000590824 pathogenic alpha Thalassemia 2015-01-14 criteria provided, single submitter clinical testing -α3.7 is classified as an alpha+ mutation.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000500418 SCV000598154 pathogenic Hereditary hemorrhagic telangiectasia type 1 2016-08-04 criteria provided, single submitter clinical testing
Emory University School of Medicine, Department of Human Genetics,Emory University RCV000664328 SCV000599234 pathogenic Inclusion body myositis; GNE myopathy 2017-09-06 criteria provided, single submitter clinical testing Heterozygoous 7.082 kb deletion variant encompassing untranslated exon 2 of GNE gene abolishes respective allele expression. Factors considered in the assessment. * RNA-sequencing using target muscle biopsy showing complete abolishment of the respective allele with confirmation by cDNA sequencing. * Gene expression analysis from RNA-seq transcript abundance data shows ~50% reduction in expression of GNE gene. * Patient harboring the variant show clinical phenotype resembling unusual GNE myopathy with inflammation.
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505253 SCV000599309 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505214 SCV000599316 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505243 SCV000599317 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505182 SCV000599318 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505219 SCV000599319 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505246 SCV000599320 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Institute of Human Genetics,Klinikum rechts der Isar RCV000505401 SCV000599662 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2013-11-06 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000505435 SCV000599703 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 2017-08-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507088 SCV000604011 benign not specified 2017-03-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507675 SCV000604012 benign not provided 2017-06-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506667 SCV000604964 benign not specified 2016-07-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506174 SCV000605444 uncertain significance not specified 2017-03-10 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000506461 SCV000605722 likely pathogenic Breast-ovarian cancer, familial 1 2016-01-25 criteria provided, single submitter clinical testing Heterozygous deletion of exon 10 (also known as exon 11)
Undiagnosed Diseases Network,NIH RCV000551008 SCV000622149 uncertain significance Brown-Vialetto-Van Laere syndrome 1 2016-03-02 criteria provided, single submitter clinical testing Clinically diagnosed with riboflavin transporter deficiency; patient responded to high dose vitamin B2 treatment.
Invitae RCV000540764 SCV000622891 pathogenic Gorlin syndrome 2017-04-19 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PTCH1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants and gross deletions in PTCH1 are known to be pathogenic. Deletions involving the entire PTCH1 gene have been reported in individuals affected with Gorlin syndrome (PMID: 22382802, 17703323). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000557733 SCV000623136 pathogenic Beckwith-Wiedemann syndrome 2017-09-07 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NSD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions encompassing the entire NSD1 gene have been reported in many individuals affected with Sotos syndrome (PMID: 18505455, 21597970, 25608832). Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000533918 SCV000623137 pathogenic Beckwith-Wiedemann syndrome 2017-06-29 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 18-20 of the NSD1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NSD1-related disease. Loss-of-function variants in NSD1 are known to be pathogenic (PMID:  12807965, 15942875, 17565729). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000548818 SCV000623513 uncertain significance Hypertrophic cardiomyopathy 2018-06-28 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the TNNI3 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a TNNI3-related disease. In summary, the exact genomic location of this variant is unknown and the effect of this whole TNNI3 gene duplication is unknown. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000549634 SCV000623932 pathogenic Primary ciliary dyskinesia 2017-04-23 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 9 of the CCDC39 gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a CCDC39-related disease. However, it has been observed with a pathogenic variant (c.610-2A>G) in CCDC39 in an individual with primary ciliary dyskinesia (Invitae). While it is unknown if these two variants are on the same or opposite chromosomes, this observation suggests that the duplication of this exon may contribute to the cause of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000539192 SCV000623934 pathogenic Primary ciliary dyskinesia 2017-08-11 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 54-70 of the DNAH5 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This duplication has not been reported in the literature in individuals with DNAH5-related disease. However, it has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with primary ciliary dyskinesia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000553952 SCV000623935 uncertain significance Primary ciliary dyskinesia 2017-08-16 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 44-46 of the DNAH5 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with DNAH5-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the deleted exons is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000527667 SCV000623936 likely pathogenic Primary ciliary dyskinesia 2017-02-06 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 7-14 of the DNAH11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. A copy number variant encompassing the same exons of DNAH11 occurs with a second rare variant (p.Arg3429Ser) in an individual with primary ciliary dyskinesia (PMID:26139845). While it is unknown if these two variants are on the same or opposite chromosomes, this observation suggests a duplication of exons 7-14 may contribute to the cause of disease. In summary, this variant is a rare exon level duplication, and a similar copy number variant has been reported in an affected individual. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000538254 SCV000624561 pathogenic Hereditary nonpolyposis colon cancer 2017-05-17 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the EPCAM gene has been identified. The 5’ boundary of this event is unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. If MSH2 has been tested and no copy number events are reported for it, then the 3' boundary of this event lies between the EPCAM and MSH2 genes. If MSH2 has not been tested, the 3' end of this event is unknown as it extends beyond the assayed region of this test. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPCAM are known to be pathogenic. Deletion of the entire EPCAM gene has been reported in an individual affected with a Lynch syndrome-associated cancer and/or colorectal polyps (PMID: 25980754), as well as in an individual affected with autosomal recessive congenital tufting enteropathy (PMID: 24142340). In addition, deletions of EPCAM extending to the adjacent MSH2 gene have been reported in individuals with Lynch syndrome (PMID: 16086322, 22658618), and deletions involving the 3' end of the EPCAM gene are known to cause Lynch syndrome through the mechanism of transcriptional read-through resulting in silencing of the adjacent MSH2 gene (PMID: 21145788). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000531596 SCV000624563 uncertain significance Hereditary nonpolyposis colon cancer 2017-04-11 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-4 of the MSH2 gene. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' boundary is likely confined to intron 4 of the MSH2 gene. This duplication has not been reported in the literature in individuals with an MSH2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MSH2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000546344 SCV000624564 pathogenic Hereditary nonpolyposis colon cancer 2017-07-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 5-9 of the EPCAM gene. The 5' boundary is likely confined to intron 4. If MSH2 has been tested and no copy number events are reported for it, then the 3’ boundary of this event lies between the EPCAM and MSH2 genes. If MSH2 has not been tested, the 3’ end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions involving the 3’ region of the EPCAM gene (minimally, exon 9) are known to cause Lynch syndrome. These deletions lead to transcriptional read-through from the EPCAM promoter into the adjacent MSH2 gene, resulting in hypermethylation of the MSH2 promoter and silencing of MSH2 expression (PMID: 19098912, 19177550, 21309036). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000552246 SCV000624565 pathogenic Hereditary nonpolyposis colon cancer 2017-07-26 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MSH2 gene has been identified. If EPCAM has been tested and no copy number events are reported for it, then the 5' boundary of this event lies between the EPCAM and MSH2 genes. If EPCAM has not been tested, the 5' end of this event is unknown as it extends beyond the assayed region of this test. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. Similar deletions of the entire MSH2 gene have been reported in individuals affected with endometrial, prostate and breast cancer (PMID: 24323032, 25117503, 22691310), Lynch syndrome (PMID: 16837128, 22782591), and suspected Lynch syndrome (PMID: 11857745, 15475941). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000545560 SCV000624567 pathogenic Hereditary nonpolyposis colon cancer 2018-02-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-7 of the MSH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the MSH2 gene. This is expected to result in an absent or disrupted protein product. Similar deletions have been reported in several individuals and families affected with Lynch syndrome (PMID: 15942939, 16086322, 12938096, 19930554, 12373605, 16143124). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000560238 SCV000624568 uncertain significance Hereditary nonpolyposis colon cancer 2017-09-02 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-7 of the MSH2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a MSH2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MSH2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000534285 SCV000624569 pathogenic Hereditary nonpolyposis colon cancer 2017-07-13 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 3-4 of the MSH2 gene. It preserves the integrity of the reading frame. While the deletion of exon 3-4 has not been reported in the literature, deletions of exon 3 and of exon 4 which are also in-frame deletions have been reported in individuals and families with Lynch syndrome (PMID: 19459153, 21642682, 16541406, 22883484, 9843200, 10480359, 14512394, 18566915). Furthermore, Deletion of exons 3 and 4 (p.Ala123_Gln264del) removes the connector domain (or DNA binding domain) of the MSH2 protein. The connector domain is required for mismatch repair (MMR) complex formation, which is necessary for adequate MSH2 mismatch repair protein function (PMID: 18822302, 18383312, 20080788, 26163658, 21454657). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000544514 SCV000624570 likely pathogenic Hereditary nonpolyposis colon cancer 2018-03-29 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 5-7 of the MSH2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for MSH2 duplications of exons 5-7 (Variation ID: 218047). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000559471 SCV000624571 pathogenic Hereditary nonpolyposis colon cancer 2017-12-01 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 7-8 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. Deletion of exons 7-8 has been reported in the literature in families affected with Lynch syndrome (PMID: 15942939, 16736289). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000537851 SCV000624572 likely pathogenic Hereditary nonpolyposis colon cancer 2017-11-29 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 7-10 of the MSH2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 7-10 has been reported in a single family affected with Lynch syndrome. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 10495924). Experimental studies and prediction algorithms are not available for this deletion, and the functional significance of the deleted amino acids is currently unknown. A splice site variant (c.1276+1G>A) that results in the in-frame deletion of 16 amino acids (p.Gly410_Glu425del) thereby removing part of MSH3/MSH6 interaction domain is encompassed within the region deleted by this variant and has been determined to be pathogenic (PMID: 15849733, 19669161). This suggests that the domain deleted by this variant is critical for MSH2 protein function and that the removal of amino acids at this position may also be pathogenic. In summary, this deletion removes a critical portion of the MSH3/MSH6 interaction domain and has been described in a family affected with Lynch syndrome. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000548206 SCV000624573 pathogenic Hereditary nonpolyposis colon cancer 2017-07-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 11-16 of the MSH2 gene. The 5' boundary is likely confined to intron 10. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Similar deletions of exons 11-16 have been reported in individuals affected with Lynch syndrome, with evidence of segregation with disease (PMID: 17582678, 24039744). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000536931 SCV000624575 pathogenic Hereditary nonpolyposis colon cancer 2018-05-09 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 14 of the MSH2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exon 14 has been observed in individuals affected with hereditary non-polyposis colorectal cancer (PMID: 26437257, 18931482). ClinVar contains an entry for deletion of exon 14 (Variation ID: 90931). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000551811 SCV000624576 pathogenic Hereditary nonpolyposis colon cancer 2017-03-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 14-16 of the MSH2 gene. The 5' boundary is likely confined to intron 13. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Loss-of-function variants in MSH2 are known to be pathogenic. A deletion of MSH2 exons 14-16 has been reported in the literature in an individual affected with Lynch sydrome (PMID: 25430799). While this variant is not anticipated to result in nonsense mediated decay, it is expected to delete the last 197 amino acids of the MSH2 protein (Ser738-Thr934). This will remove most of the ATPase domain and all of the helix-turn-helix domain, both of which are important for MSH2 protein function (PMID: 18822302). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000525691 SCV000624577 pathogenic Hereditary nonpolyposis colon cancer 2018-01-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the MSH6 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the MSH6 gene. This is expected to result in an absent or disrupted protein product. A deletion of exon 1 has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000555418 SCV000624579 pathogenic Hereditary nonpolyposis colon cancer 2017-08-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-6 of the MSH6 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the MSH6 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000549730 SCV000624593 pathogenic Hereditary nonpolyposis colon cancer 2017-11-27 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 13-14 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PMS2-related disease. This deletion eliminates a portion of the MLH1 interaction domain, which is encoded by exons 12 to 15 of the PMS2 mRNA. The entire MLH1 interaction domain is known to be required for normal PMS2 protein function (PMID: 10037723). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000560003 SCV000624594 pathogenic Hereditary nonpolyposis colon cancer 2018-03-20 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 7-14 of the PMS2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 7-14 has been reported on the opposite chromosome (in trans) from another pathogenic variant in an individual with constitutional mismatch repair deficiency (CMMRD) (PMID: 23582141). This finding is consistent with autosomal recessive inheritance for CMMRD, and suggests that this variant contributes to disease. Several missense substitutions in exons 7-14 (p.Lys301Asn, p.Ile668Val and p.Glu705Lys) have been determined to be pathogenic (PMID: 18602922, 26110232, 25856668, 27435373, 25691505, 24027009, 20176959, 26318770, 27601186). This suggests that this region is critical for PMS2 protein function and this deletion variant may also be pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000542078 SCV000624598 uncertain significance Hereditary nonpolyposis colon cancer 2017-02-13 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 6-14 of the PMS2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a PMS2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on PMS2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000553493 SCV000625723 pathogenic Cystic fibrosis 2017-10-04 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 25-26 of the CFTR gene. It preserves the integrity of the reading frame. Deletions of exons 25-26 been reported in individuals affected with cystic fibrosis (PMID: 15024729, 16362824, 18683213). Due to alternative exon nomenclature, this variant is also known as deletion of exons 22-23 in the literature. This deletion disrupts the nucleotide binding domain (NBD2) of the CFTR protein, which is essential for ATP hydrolysis and proper CFTR function (PMID: 15284228). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000527161 SCV000625772 pathogenic Duchenne muscular dystrophy 2017-02-27 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 58-61 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). A similar copy number variant has been reported in individuals affected with Duchenne muscular dystrophy in the Universal Mutation Database (PMID: 22144684). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000541907 SCV000625773 pathogenic Duchenne muscular dystrophy 2017-06-29 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 53-60 of the DMD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with Duchenne muscular dystrophy (PMID: 16834926). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000541516 SCV000625779 pathogenic Duchenne muscular dystrophy 2017-07-27 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 45-55 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in several individuals affected with Duchenne or Becker muscular dystrophy (PMID: 22090376, 11257468, 26911353, 18752307, 20683981, 16030524) and in individuals affected with dilated cardiomyopathy (PMID: 18261911). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000559416 SCV000625783 pathogenic Duchenne muscular dystrophy 2018-07-03 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 49-51 of the DMD gene. It preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals affected with muscular dystrophy (PMID: 9470882, 9619643), as well as in several individuals with dilated cardiomyopathy (PMID: 9470882, 20031633, Invitae). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000542227 SCV000625799 pathogenic Duchenne muscular dystrophy 2017-08-07 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 19-44 of the DMD gene. It preserves the integrity of the reading frame. This variant has been reported in individuals affected with Duchenne muscular dystrophy (PMID: 12324874, 9628192). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000544111 SCV000625805 uncertain significance Duchenne muscular dystrophy 2017-08-08 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 30 of the DMD gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with DMD-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000547407 SCV000625808 pathogenic Duchenne muscular dystrophy 2017-07-19 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-18 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. Duplication of exons 2-18 has not been reported in the literature in individuals with DMD-related disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000559673 SCV000625809 likely pathogenic Duchenne muscular dystrophy 2017-07-11 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 13-16 of the DMD gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has been reported in an individual affected with Becker muscular dystrophy (PMID: 22776072). Similar in-frame duplications have been reported in multiple individuals affected with DMD-related muscular dystrophy (PMID: 15655674, 19937601, 18752307, 18853462, 16917894). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000528452 SCV000625818 pathogenic Duchenne muscular dystrophy 2018-03-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the DMD gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the DMD gene. This is expected to result in an absent or disrupted protein product. Deletions involving the promoter and exon 1 have been reported in individuals affected with DMD-related muscular dystrophy (PMID: 18752307, 25076844, 26718981) and in a family affected with dilated cardiomyopathy (PMID: 8361506). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000546533 SCV000626134 uncertain significance Fanconi anemia 2017-06-23 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the FANCG gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a FANCG-related disease. The exact genomic location of this variant is unknown. In summary, this variant has uncertain impact on FANCG function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000535898 SCV000626139 pathogenic Fanconi anemia 2017-05-30 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 15-17 of the FANCA gene. It preserves the integrity of the reading frame. This deletion, and similar in-frame deletions within exons 15-17, have been reported in individuals affected with Fanconi anemia (PMID: 10521298, 23613520, 17924555, 9711872). The in-frame deletion of exon 15 has been reported as a founder variant in the Tunisian population (PMID: 24689079). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000546093 SCV000626140 pathogenic Fanconi anemia 2017-02-28 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 12-14 of the FANCA gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000559283 SCV000626828 pathogenic Wilson disease 2017-06-09 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the ATP7B gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in combination with another ATP7B variant in two individuals affected with Wilson disease (PMID: 27398169). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 16283883, 10441329). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000558078 SCV000626868 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2017-12-15 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the VHL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire VHL gene have been reported in multiple individuals and families with von Hippel-Lindau syndrome (PMID: 10830910, 10567493, 8634692, 17537157, 20567917). Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000551115 SCV000626870 pathogenic Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 2017-12-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-3 of the VHL gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions of exons 2-3 have been reported several in individuals with von Hippel-Lindau (VHL) syndrome (PMID: 19336503, 17661816, 12114495, 19764026). This deletion includes the elongin binding domain of VHL, which is required for protein stability and tumor suppressive activity (PMID: 14987375, 10900011). There are also several pathogenic missense and loss-of-function variants encompassed by this deletion in individuals with VHL, further demonstrating the importance of this region (PMID: 8707293). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000543243 SCV000627006 pathogenic Familial hypercholesterolemia 1 2018-03-07 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 7-12 of the LDLR gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. A deletion of exons 7-12 has been reported in the literature in an individual affected with familial hypercholesterolemia (PMID: 19538517). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000531974 SCV000627008 likely pathogenic Familial hypercholesterolemia 1 2017-08-11 criteria provided, single submitter clinical testing This variant is an in-frame duplication of the genomic region encompassing exons 4-8 of the LDLR gene. It preserves the integrity of the reading frame. This variant has been reported in individuals with familial hypercholesterolemia (PMID: 20663204, 16792510). Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000557837 SCV000627365 pathogenic Long QT syndrome 2018-01-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the KCNH2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the KCNH2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with KCNH2-related disease. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000560623 SCV000627828 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-03-14 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 14-17 of the FBN1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FBN1-related disease. This deletion affects the epidermal-growth-factor (EGF)–like domain of the FBN1 protein. Cysteine residues in these domains have been shown to be involved in the formation of disulfide bridges, which are critical for FBN1 protein structure and stability (PMID: 10486319, 3495735, 4750422, 16677079). In summary, this deletion disrupts an important functional domain in the FBN1 protein. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000536805 SCV000627829 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-01-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 11-15 of the FBN1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FBN1-related condition. This gross deletion affects the epidermal-growth-factor (EGF)–like domain of the FBN1 protein. Cysteine residues in this domain have been shown to be involved in the formation of disulfide bridges, which are critical for FBN1 protein structure and stability (PMID: 10486319, 3495735, 4750422, 16677079). In addition, missense substitutions within the FBN1 EGF-like domains affecting cysteine residues are significantly overrepresented among patients with Marfan syndrome (PMID: 16571647, 17701892), and variants within exons 11-15 have been classified as likely pathogenic or pathogenic (PMID: 10486319, 18471089, 21542060, 21932315, 795121, 27112580, Invitae). In summary, this is a rare gross deletion that affects a protein domain crucial for FBN1 protein function. For these reasons, this deletion has been classified as Pathogenic.
Invitae RCV000544886 SCV000627830 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-15 of the FBN1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 15 of the FBN1 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FBN1-related disease. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000530964 SCV000628126 likely pathogenic Hereditary cancer-predisposing syndrome 2017-07-13 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 3-5 of the RAD50 gene. It preserves the integrity of the reading frame. Deletions of exons 3-5 have not been reported in the literature in individuals with RAD50-related disease. While this variant is not expected to result in nonsense mediated decay, it is expected to delete nearly the entire N-terminal ATPase domain of the RAD50 protein (deleted residues Val72-Lys252) (PMID: 10892749, 24894818). It is also expected to delete the N-terminal portion of the MRE11 interaction domain (PMID: 24894818). Although functional studies have not been done for this particular variant, loss of this N-terminal region of the protein likely disrupts ATPase activity and MRE11 complexing, leading to impaired RAD50 protein function (PMID: 25828805). This suggests that deletion of this region of the RAD50 protein is causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000546604 SCV000628127 pathogenic Hereditary cancer-predisposing syndrome 2017-07-13 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 14-16 of the RAD50 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a RAD50-related disease. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000529549 SCV000628836 uncertain significance Neurofibromatosis, type 2 2017-05-02 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 13-16 of the NF2 gene. The 5' boundary is likely confined to intron 12. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a NF2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on NF2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000557921 SCV000629385 uncertain significance Spastic paraplegia 2017-03-21 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the HSPD1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with a HSPD1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on HSPD1 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000528754 SCV000630015 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2018-05-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the EDA gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the EDA gene. This is expected to result in an absent or disrupted protein product. A similar deletion has been reported in the literature in individuals affected with X-linked anhidrotic ectodermal dysplasia (PMID:8696334,11295832). Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000557231 SCV000630046 pathogenic Citrullinemia type I 2016-12-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 5 of the ASS1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Exon 5 deletions of ASS1 have been observed in individuals affected with citrullinemia type I (PMID: 2615645, Invitae). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000548124 SCV000630180 uncertain significance Congenital contractural arachnodactyly 2017-03-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 3 of the FBN2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a FBN2-related disease. This deletion encompasses an epidermal growth factor (EGF)–like domain of the FBN2 protein. Although missense variants in cysteine residues located in EGF-like domains in FBN2 are well known to affect protein stability, there is no evidence that the deletion of a full EGF-like domain impacts protein function (PMID: 18767143). In summary, the impact of this single exon deletion of FBN2 on protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000550770 SCV000630741 uncertain significance Hereditary pancreatitis 2017-07-07 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the SPINK1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with SPINK1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000532402 SCV000630851 pathogenic Cohen syndrome 2017-07-14 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 8-23 of the VPS13B gene. It preserves the integrity of the reading frame. Deletion of exons 8-23 has not been reported in the literature in individuals with VPS13B-related disease. Smaller in-frame deletions encompassed by this variant (deletion of exons 20-21 or exons 18-21) have been reported in individuals affected with Cohen syndrome (PMID: 15141358, 16648375). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000545329 SCV000631230 uncertain significance CHARGE association 2017-11-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SEMA3E gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Deletions of the entire SEMA3E gene have not been reported in the literature. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SEMA3E cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance
Invitae RCV000554640 SCV000631437 uncertain significance Ehlers-Danlos syndrome, classic type 2017-02-12 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 8-54 of the COL5A2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes . As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplications of exons 8-54  sequence have not been reported in the literature in individuals with a COL5A2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on COL5A2 protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance.
Invitae RCV000551893 SCV000632430 pathogenic Fumarase deficiency 2018-04-06 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the FH gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This particular deletion has been reported in the literature in an individual affected with leiomyomatosis and renal cell cancer (PMID: 22382802). Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000534871 SCV000632675 uncertain significance Juvenile polyposis syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 9-13 of the BMPR1A gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. Duplication of BMPR1A exons 9-13 has not been reported in the literature in individuals with a BMPR1A-related disorder. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on BMPR1A protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000549633 SCV000632676 pathogenic Juvenile polyposis syndrome 2017-03-17 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 9-10 of the SMAD4 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 17873119, 16152648). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000529004 SCV000632903 pathogenic Familial cancer of breast 2017-06-15 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 7 of the BARD1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000534626 SCV000632904 pathogenic Familial cancer of breast 2017-01-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-11 of the BARD1 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this particular variant has not been reported in the literature, truncating variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). Deletion of exons 7-11 removes the C-terminal BRCT domains of the BARD1 protein. Experimental studies have shown that the BRCT domains are required for BARD1 homology-directed repair activity and the maintenance of chromosomal stability in vitro (PMID: 17848578). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000549668 SCV000632905 uncertain significance Familial cancer of breast 2018-01-04 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the BARD1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with BARD1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000527946 SCV000632906 likely pathogenic Familial cancer of breast 2017-11-03 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-3 of the BARD1 gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BARD1-related disease. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000538400 SCV000632907 pathogenic Familial cancer of breast 2017-04-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1 and 2 of the BARD1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the BARD1 gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000527152 SCV000632909 pathogenic Familial cancer of breast 2017-11-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the BARD1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the BARD1 gene. This is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BARD1 are known to be pathogenic (PMID: 21344236, 22006311, 20077502). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000529833 SCV000632915 pathogenic Familial cancer of breast 2017-06-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 10-15 of the CHEK2 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this gross deletion has not been reported in the literature, loss-of-function variants including gross deletions in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This deletion (p.Tyr337_Leu543del) partially removes the kinase domain (residues 226-486), and the NLS (nuclear localization signal, residues 515-522), which are important for normal CHEK2 protein function (PMID: 11733767, 15279791, 19782031, 12909615, 18004398, 24879340). Smaller in-frame deletions and truncations in this region have been determined to be pathogenic in the Invitae database, suggesting that deletion of this region of the CHEK2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000544738 SCV000632916 pathogenic Familial cancer of breast 2017-07-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8-15 of the CHEK2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with CHEK2-related disease. This deletion partially removes the kinase domain (residues 226-486), and the NLS (nuclear localization signal, residues 515-522), which are important for normal CHEK2 protein function (PMID: 11733767, 15279791, 19782031, 12909615, 18004398, 24879340). Smaller in-frame deletions and truncations in this region have been determined to be pathogenic in the Invitae database, suggesting that deletion of this region of the CHEK2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000529270 SCV000633748 uncertain significance Early infantile epileptic encephalopathy 2017-07-21 criteria provided, single submitter clinical testing This copy number variant is a gain (6 copies) of the genomic region encompassing exon 8 of the HCN1 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copies of this region are likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Similar copy number gains have not been reported in the literature in individuals with HCN1-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000546295 SCV000633749 uncertain significance Early infantile epileptic encephalopathy 2017-03-16 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 1-4 of the HCN1 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the HCN1 gene. This variant has not been reported in the literature in individuals with a HCN1-related disease. To date, only missense variants in HCN1 have been reported in individuals affected with epilepsy. In summary, this is a novel duplication with an uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000558692 SCV000633750 pathogenic Early infantile epileptic encephalopathy 2017-05-09 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the STXBP1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletion of exon 4 has been reported in the literature in individuals affected with West syndrome (PMID: 26865513) and Ohtahara syndrome (PMID: 22211739). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000543784 SCV000633752 likely pathogenic Early infantile epileptic encephalopathy 2017-08-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 16. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with a KCNQ2-related disease. A different variant that disrupts the final 98 amino acids of the KCNQ2 protein (p.Cys774Leufs*91) has been determined to be pathogenic (PMID: 23692823). This suggests that this region is critical for KCNQ2 protein function and that other variants that disrupt this region, such as this exon 17 deletion, may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000560721 SCV000633753 pathogenic Early infantile epileptic encephalopathy 2017-06-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 6-17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 5. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This particular deletion has not been reported in the literature in individuals with a KCNQ2-related disease.  However, other deletions that truncate the protein, including deletion of exons 9-17 and exons 13-17, have been reported to segregate with disease in families affected with benign familial neonatal seizures (PMID: 9425895, 14534157, 23360469). This suggests that deletion of this region of the KCNQ2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000536780 SCV000633754 pathogenic Early infantile epileptic encephalopathy 2017-06-01 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 6-12 of the KCNQ2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000554746 SCV000634557 pathogenic Joubert syndrome 2017-12-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 7 and part of exon 8 of the AHI1 gene. The 5’ end of this event is located at c.749+528 in intron 6 and the 3’ boundary is located at c.1058 in exon 8 of the AHI1 gene (c.749+528_1058del). This deletion affects an acceptor splice site and is expected to disrupt RNA splicing, likely resulting in an absent or disrupted protein product. This particular deletion has not been reported in the literature in individuals with an AHI1-related disease, but has been observed to segregate with Joubert syndrome in a single family (Invitae). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000556066 SCV000635095 pathogenic Hereditary breast and ovarian cancer syndrome 2017-06-19 criteria provided, single submitter clinical testing This variant is a partial deletion of exon 3 of the BRCA2 gene, including the exon 3 / intron 3 donor splice site (c.277_317-726delinsCCAT). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000540293 SCV000635097 pathogenic Hereditary breast and ovarian cancer syndrome 2017-08-23 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 5-7 of the BRCA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRCA2-related disease. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000557636 SCV000635101 likely pathogenic Hereditary breast and ovarian cancer syndrome 2017-03-21 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 12-13 of the BRCA2 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.
Invitae RCV000545391 SCV000636113 benign Nephronophthisis 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000540926 SCV000637350 pathogenic Joubert syndrome; Orofaciodigital syndrome I 2017-04-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the OFD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole gene deletions of OFD1 have been reported in two unrelated individuals with oral-facial-digital syndrome (PMID: 23033313) and one individual with ventriculomegaly and agenesis of the corpus callosum (PMID: 24476948). Since the deletion in this female individual extends beyond OFD1, it is possible that a large rearrangement on the X chromosome may be responsible for the phenotype rather than loss of OFD1 alone. In summary, this gross deletion eliminates one copy of the OFD1 gene and similar deletions have been reported in affected individuals. For these reasons, this deletion has been classified as Pathogenic.
Invitae RCV000526179 SCV000637867 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2017-11-03 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the TMEM127 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with TMEM127-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000548121 SCV000638403 pathogenic Myoclonic dystonia 2016-05-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 6-9 of the SGCE gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Gross deletions of SGCE are known to be pathogenic.  A similar copy number change has been reported in an individual with myclonus dystonia (PMID: 19066193). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000534213 SCV000638448 uncertain significance Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 2017-07-05 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the SLC5A7 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. This duplication has not been reported in the literature in individuals with SLC5A7-related disease. Experimental studies are not available for this duplication and the functional significance of an additional copy of this gene is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000528877 SCV000638530 uncertain significance Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2016-09-23 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 38 to 46 of the KIF1A gene. The 5' boundary is likely confined to intron 37. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a KIF1A-related disease, and its frequency in the general population is not known. In summary, because the exact 3' boundary of this variant has not been determined, and whether this duplication occurs in tandem is not known, the impact of this duplication on KIF1A protein function can not be established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000534639 SCV000638531 benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2018-01-03 criteria provided, single submitter clinical testing
Invitae RCV000524974 SCV000639529 pathogenic Capillary malformation-arteriovenous malformation 1 2017-10-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-9 of the RASA1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 9 of the RASA1 gene. This is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000558513 SCV000639708 uncertain significance Biotin-thiamine-responsive basal ganglia disease 2017-04-07 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the SLC19A3 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Whole gene duplications of SLC19A3 have not been reported in the literature in individuals with a SLC19A3-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on SLC19A3 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000551540 SCV000640980 pathogenic Multiple exostoses type 2 2018-01-24 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 8 of the EXT2 gene. It preserves the integrity of the reading frame. Deletions of exon 8 have been reported in several individuals with multiple osteochondromas (PMID: 18165274, 19810120). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000545713 SCV000640994 uncertain significance Aortic aneurysm, familial thoracic 4 2017-05-10 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MYH11 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a MYH11-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH11 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.
Invitae RCV000536086 SCV000641692 pathogenic Lethal multiple pterygium syndrome 2016-12-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 5-9 of the CHRNA1 gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. While this particular variant has not been reported in the literature, truncating variants in CHRNA1 are known to cause autosomal recessive congenital myasthenic syndrome (PMID: 14719537). This truncation eliminates multiple conserved functional regions (transmembrane, cytoplasmic) of the CHRNA1 protein (PMID: 25348405, 22728938) and a high percentage of previously reported CHRNA1 missense mutations have been found in the truncated region (PMID: 14719537, 27748205, 10195214). These observations suggest that this truncation will result in a non-functional CHRNA1 protein product. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000551394 SCV000641856 pathogenic Mowat-Wilson syndrome 2017-07-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the ZEB2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the ZEB2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ZEB2-related disease. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000540097 SCV000642053 likely benign Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 2017-12-29 criteria provided, single submitter clinical testing
Invitae RCV000528294 SCV000642112 likely pathogenic Ataxia-telangiectasia-like disorder 1 2017-10-14 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 6-7 of the MRE11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MRE11-related disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000530985 SCV000642208 uncertain significance Spastic paraplegia 11, autosomal recessive 2018-03-14 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 31-32 of the SPG11 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. Duplications of exons 31-32 have not been reported in the literature in individuals with a SPG11-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on SPG11 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000526440 SCV000644138 pathogenic 3-methylcrotonyl CoA carboxylase 2 deficiency 2017-05-05 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 7-14 of the MCCC2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in MCCC2 are known to be pathogenic (PMID: 16010683). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000526208 SCV000644198 pathogenic Tuberous sclerosis 2 2018-06-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the TSC2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the TSC2 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants including gross deletions in TSC2 are known to be pathogenic. Similar deletions encompassing at least exon 2, also known as exon 1 in the literature, have been reported in individuals with tuberous sclerosis complex (PMID: 17287951, 25664948, 21520333). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000549978 SCV000644698 pathogenic Cerebral cavernous malformation 2017-04-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 5-18 of the KRIT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 18 of the KRIT1 gene. This is expected to result in an absent or disrupted protein product. While this particular gross deletion has not been reported in the literature, loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 12404106, 23595507). A similar gross deletion has been reported in an individual affected with cerebral cavernous malformations (PMID: 23595507). In that study, this gene is referred to as CCM1, and the event is described as a deletion of exons 1-17 relative to the alternative transcript, NM_004912.3. Because the 5' end of this event extends beyond the assayed region for this gene, it is unclear if the number of deleted untranslated exons are the same, nor whether there are additional intergenic sequence deleted. However, the deleted coding regions are the same between this previously published variant and the event observed in this individual. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000538692 SCV000644700 likely pathogenic Cerebral cavernous malformation 2017-04-18 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 7-9 of the KRIT1 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant  has not been reported in the literature in individuals with a KRIT1-related disease. In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.
Invitae RCV000550940 SCV000645156 likely pathogenic Majeed syndrome 2016-08-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 7-18 of the LPIN2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This deletion disrupts the DXDXT and LXXIL motifs that are known to be key for protein function in another member of the Lipin family of proteins, LPIN1 (PMID: 16950137, 19369868). For these reasons, this variant has been classified as Likely Pathogenic.
Invitae RCV000535358 SCV000645335 pathogenic Spastic paraplegia 4, autosomal dominant 2017-06-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-7 of the SPAST gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the SPAST gene. This is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with hereditary spastic paraplegia. It was also found in an unaffected relative, potentially representing a case of incomplete penetrance (PMID: 17035675). Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000543564 SCV000645336 pathogenic Spastic paraplegia 4, autosomal dominant 2018-05-18 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SPAST gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This particular gene deletion has been reported in the literature in multiple individuals and families affected with hereditary spastic paraplegia (PMID: 17098887, 25421405). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000560513 SCV000645337 pathogenic Spastic paraplegia 4, autosomal dominant 2017-03-01 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 8-9 of the SPAST gene. It preserves the integrity of the reading frame. This variant has been reported in multiple unrelated individuals affected with hereditary spastic paraplegia (PMID: 19423133, 25065914). It has also been reported to segregate with autosomal dominant hereditary spastic paraplegia in a single family (PMID: 19423133). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000535157 SCV000645338 pathogenic Spastic paraplegia 4, autosomal dominant 2017-03-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 10-11, and part of exon 12 of the SPAST gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is located at position c.1477 in exon 12 (chr2:32362241). This likely creates a premature stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000559835 SCV000645374 pathogenic Parkinson disease 2 2018-04-26 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the PARK2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 3 has been reported in multiple individuals and families affected with early onset Parkinson's disease (PMID: 25833766, 19715670, 23880019). Loss-of-function variants in PARK2 are known to be pathogenic (PMID: 10072423, 20301651, 22956510). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000531632 SCV000645375 pathogenic Parkinson disease 2 2017-12-22 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 2-3 of the PARK2 gene. It preserves the integrity of the reading frame. This variant has been reported in the compound heterozygous state in several individuals affected with early-onset Parkinson's disease (PMID: 21215313, 17914726, 23880019, 10824074). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000539770 SCV000645387 pathogenic Griscelli syndrome type 2 2018-02-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-4 of the RAB27A gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the RAB27A gene. This is expected to result in an absent or disrupted protein product. Deletion of exons 2-4 of RAB27A has been reported in the literature in an individual affected with hemophagocytic lymphohistiocytosis (PMID: 23160464). Loss-of-function variants in RAB27A are known to be pathogenic (PMID: 10835631, 23160464). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000532000 SCV000645458 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2017-04-18 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 17-19 of the CAPN3 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with a CAPN3-related disease. This deletion removes a calcium binding EF hand domain of the calpain 3 protein. The proper binding of calcium has been reported to be necessary for proper protease function (PMID: 24846670). A missense mutation (p.Asp705Gly) located at an amino acid residue that binds calcium has been reported to be pathogenic and is located within this deleted region (PMID: 15138196, 21624972).  This suggests that the deleted region is critical for proper CAPN3 protein function In summary, this variant is a novel gross deletion that removes a region of the gene that is functionally important. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000558868 SCV000645540 pathogenic PTEN hamartoma tumor syndrome 2017-06-30 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 8 of the PTEN gene. It preserves the integrity of the reading frame. Deletion of exon 8 has been reported in an individual affected with Cowden or Cowden-like syndrome (PMID: 25669429). This variant is expected to result in the deletion of 75 amino acids (Asp268-Lys342) of the PTEN protein. This removes most of the C2 domain (amino acid residues 186-351), which contains several critical phosphorylation, ubiquitylation, and SUMOylation sites for regulating PTEN protein cellular location and function (PMID: 25448482, 25336918, 24905788). No functional studies have been performed to test the effects of this variant. However, experimental studies have shown that substitutions of key amino acid residues in this region affect the cellular location and function of the PTEN protein (PMID: 22713753, 11948419, 24905788), suggesting that deletion of this region of the PTEN protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000534404 SCV000645962 likely pathogenic Epilepsy, childhood absence 2; Familial febrile seizures 8 2017-03-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 7-9 of the GABRG2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature, however, a few different truncating mutations that escape nonsense mediated decay have been determined to be pathogenic (PMID: 18566737, 23720301). Experimental studies have shown that those truncations resulted in truncated GABRG2 protein with loss of protein function, as well as varying degrees of dominant negative effect. In summary, this variant is a gross deletion that is not anticipated to result in nonsense mediated decay. Similar truncating mutations have been shown to be pathogenic, possibly through a dominant negative mechanism. However, the functional consequence of this particular deletion has not been studied. For these reasons, this variant has been classified as Likely Pathogenic.
Invitae RCV000543941 SCV000646080 uncertain significance Progressive familial heart block type 1B 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV000525016 SCV000646342 uncertain significance Epilepsy, progressive myoclonic 3 2016-08-08 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 3-4 of the KCTD7 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a KCTD7-related disease. In summary, this variant is a sub-genic duplication encompassing the last 2 exons of KCTD7. The exact location of this duplication has not been confirmed, and its affect on KCTD7 protein function is unknown. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000535350 SCV000647147 pathogenic Familial adenomatous polyposis 1 2017-03-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing promoter 1B, promoter 1A and exons 2-6 of the APC gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the APC gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, exon-level deletions and loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000534711 SCV000647150 likely pathogenic Familial adenomatous polyposis 1 2017-02-17 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-4 of the APC gene. The 5' end of this event is likely confined to intron 1 of the APC gene. The 3' boundary is likely confined to intron 4 of the APC gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While this particular duplication has not been reported in the literature, loss-of-function variants including gross alterations in APC are known to be pathogenic (PMID: 23159591). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.
Invitae RCV000548705 SCV000647154 pathogenic Familial adenomatous polyposis 1 2018-03-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 12-16 of the APC gene. The 5' boundary is likely confined to intron 11. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. Deletions encompassing exons 12-16, also known as exons 11-15 in the literature, have been reported in individuals and families affected with familial adenomatous polyposis (PMID: 20223039, 16736293, 18487285). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000544295 SCV000648493 uncertain significance Hereditary sensory and autonomic neuropathy type IIB 2017-07-28 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 5-9 of the FAM134B gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This duplication has not been reported in the literature in individuals with FAM134B-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000548052 SCV000648588 uncertain significance Neuroblastoma 3 2017-04-10 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 5 to 29 of the ALK gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with an ALK-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ALK protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000554144 SCV000649258 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-08-14 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 22-24 of the SCN9A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SCN9A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000533008 SCV000649259 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-07-29 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 23 of the SCN9A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SCN9A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000547325 SCV000650689 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2017-03-30 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 7-16 of the TERT gene. The 5' boundary is likely confined to intron 6. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This gross duplication has not been reported in the literature in an individual with TERT-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on TERT protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance
Invitae RCV000527830 SCV000650882 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2017-01-24 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 47 of the FLNC gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a FLNC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on FLNC protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000526488 SCV000652208 pathogenic Rigidity and multifocal seizure syndrome, lethal neonatal 2017-11-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-4 of the BRAT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the BRAT1 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with BRAT1-related disease. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000550477 SCV000652333 pathogenic Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2017-07-21 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing most of exon 6 of the WWOX gene, including the intron 5-exon 6 boundary (c.517-68114_597dup). The duplicated copy of this region is in tandem. This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in WWOX are known to be pathogenic (PMID: 25411445). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000528181 SCV000652334 likely pathogenic Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2017-07-14 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 7 of the WWOX gene. It preserves the integrity of the reading frame. This variant has been reported to segregate with epilepsy and developmental delay in a single family (Invitae). This deletion removes a portion of the WWOX gene that encodes the short-chain dehydrogenase (SDR) domain of the WWOX protein. While experimental studies have not been performed on this particular deletion, functional studies of larger deletions of the SDR domain (exons 5-8 and exons 6-8) have been shown to cause cellular mislocalization of the WWOX protein (PMID: 11719429). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000529419 SCV000652572 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2016-12-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the ISPD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ISPD are known to be pathogenic (PMID: 22522421). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000552669 SCV000652820 uncertain significance Spinal muscular atrophy, distal, autosomal recessive, 5 2017-06-05 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 10 of the DNAJB2 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes.  There is evidence that this duplication is in tandem. This duplication has not been reported in the literature in individuals with a DNAJB2-related disease. Experimental studies are not available for this copy number variant, and the functional significance of the duplicated exon is currently unknown. In summary, this is a tandem duplication with uncertain impact on DNAJB2 function.  The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000526537 SCV000652832 uncertain significance Combined oxidative phosphorylation deficiency 14 2017-06-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the FARS2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the FARS2 gene. This is expected to result in an absent or disrupted protein product. A similar gross deletion has been reported in the literature in an individual affected with early-infantile-encephalopathy with epilepsy (PMID: 27549011). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FARS2 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.
Invitae RCV000552282 SCV000652857 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2017-06-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 4-6 of the TMEM231 gene. The 5' boundary is likely confined to intron 3. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact genomic location of this variant is unknown. Gross duplications have not been reported in the literature in individuals with a TMEM231-related disease. In summary, this variant has uncertain impact on TMEM231 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000540899 SCV000654659 pathogenic Ciliary dyskinesia, primary, 28 2017-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the SPAG1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass the non-coding exon 1 and/or additional genes. The 3' boundary is likely confined to intron 2 of the SPAG1 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAG1 are known to be pathogenic. A deletion that includes the non-coding exon 1 and exon 2 has been reported in individuals affected with primary ciliary dyskinesia (PMID: 27637300, 24055112). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000530783 SCV000654833 uncertain significance Arrhythmogenic right ventricular dysplasia, familial, 13 2017-04-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 7 of the CTNNA3 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a CTNNA3-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on CTNNA3 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000560390 SCV000655110 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 10 2017-07-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 5-7 of the POT1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 7 of the POT1 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with POT1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in POT1 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000530585 SCV000656556 pathogenic Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 2017-05-16 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the MUSK gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MUSK are known to be pathogenic (PMID: 24122059). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000539865 SCV000656966 uncertain significance Bethlem myopathy 1 2016-10-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 41-42 of the COL6A3 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in an individual with a COL6A3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the impact of this deletion on COL6A3 protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance.
Invitae RCV000551346 SCV000656967 uncertain significance Bethlem myopathy 1 2017-06-16 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing part of exon 9 and all of exons 10-14 of the COL6A3 gene (c.3859_6063+507). It preserves the integrity of the reading frame. This deletion has not been reported in the literature in individuals with a COL6A3-related disease. In summary, this variant has uncertain impact on COL6A3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000534493 SCV000657478 uncertain significance Familial colorectal cancer 2018-05-04 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the promoter of the GREM1 gene. The precise boundaries of this event are unknown. Two different tandem duplications (40 kb and 16 kb) spanning the 3' end of the SCG5 gene and the region upstream of the GREM1 gene have been reported in families with hereditary mixed polyposis syndrome (PMID: 22561515, 25992589, 26493165). However, the variant identified in this individual extends further upstream of those variants, and the impact of the additional duplicated sequences on GREM1 expression and function has not been established. In summary, duplications of the GREM1 promoter region have been reported in individuals with hereditary mixed polyposis syndrome. However, the 5' boundary of this particular variant in this individual extends further upstream of those two other duplications, and therefore the consequence of this particular variant is currently unknown. For these reasons, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000557666 SCV000657480 pathogenic Cornelia de Lange syndrome 1 2017-02-27 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 34 of the NIPBL gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants, including gross deletions, in NIPBL are known to be pathogenic (PMID: 24038889). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000550726 SCV000657482 likely pathogenic Cornelia de Lange syndrome 1 2016-10-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing most of exons 37 to 39 of the NIPBL gene. The 5' breakpoint of this deletion is 3 nucleotides from the beginning of exon 37, and the 3' breakpoint is within intron 39. This deletion is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a NIPBL-related disease. Multiple different missense substitutions (p.Leu2144Phe, p.Thr2146Pro, p.Leu2150Pro, p.Tyr2216Ser, p.Asn2236Ile) at codons within exons 37-39 have been classified as pathogenic (PMID: 17106445, 20358602, 15591270, 26701315, 24635725). This suggests that these residues are critical for NIPBL protein function, and that deletion of this region is deleterious. In summary, this is a novel deletion that eliminates important amino acid residues. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000554601 SCV000658613 pathogenic Laminin alpha 2-related dystrophy 2017-08-01 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 19 of the LAMA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000538534 SCV000658615 pathogenic Laminin alpha 2-related dystrophy 2016-11-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 56 of the LAMA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic. A deletion encompassing exon 56, c.7750-1713_7899-2153del, has been reported in multiple individuals affected with congenital muscular dystrophy (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000558514 SCV000658808 uncertain significance Thoracic aortic aneurysm and aortic dissection 2018-01-19 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 6-9 of the SMAD3 gene. The 5' boundary is likely confined to intron 5. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with SMAD3-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV000532443 SCV000658809 likely pathogenic Thoracic aortic aneurysm and aortic dissection 2017-03-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 9 of the SMAD3 gene. The 5' boundary is likely confined to intron 8. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in an individual with a SMAD3-related disease. This variant has been found to co-segregate with disease in a family with aortic aneurysm/aortic replacement (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a rare deletion with unknown impact on protein function and it has been found to co-segregate with disease in one family. Therefore, this variant has been classified as Likely Pathogenic.
Invitae RCV000556053 SCV000658945 likely pathogenic Treacher Collins syndrome 1 2016-07-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 24-26 of the TCOF1 gene. The 5' boundary is likely confined to intron 23. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TCOF1 protein. This variant has not been reported in the literature in individuals with a TCOF1-related disease. Experimental studies have shown that the final 160-190 amino acids of the TCOF1 protein contain nuclear and nucleolar localization signals. Deletion of these residues leads to mislocalization of the protein in cell culture-based assays (PMID: 9811939, 9736782). In summary, this is a novel truncating variant that is expected to disrupt TCOF1 protein localization. However, in the absence of additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000677251 SCV000681429 pathogenic Optic nerve hypoplasia criteria provided, single submitter research SOX5 previously described in Lamb-Schaffer syndrome that sometimes involves optic nerve hypoplasia. This individual also has intellectual disability and heart defects, also reported in Lamb-Schaffer syndrome. Similar deletions of SOX5 causing the same phenotype have been reported, PMID 22290657.
Broad Institute Rare Disease Group,Broad Institute RCV000585924 SCV000693907 pathogenic Glycogen storage disease, type II 2017-06-25 criteria provided, single submitter research PVS1: Identified truncating variant in compound heterozygote with common promoter pathogenic variant. Previously reported in 2 patients in the literature with adult onset GSDII. PM2: Absent from gnomAD (well covered) and PM3: 3 compound heterozygotes with GSDII, including 2 in literature (PMID: 17616415).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592422 SCV000703422 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000603650 SCV000719684 likely benign not specified 2017-05-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000624863 SCV000740317 pathogenic Spherocytosis type 2 2018-03-29 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000627115 SCV000747919 likely pathogenic Autistic behavior; Severe global developmental delay 2012-12-17 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000627116 SCV000747920 likely pathogenic Autistic behavior; Severe global developmental delay 2017-04-30 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000627117 SCV000747921 likely pathogenic Autistic behavior; Moderate global developmental delay 2017-05-27 criteria provided, single submitter clinical testing
Department of Psychiatry,Nagoya University RCV000754118 SCV000777921 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754119 SCV000777922 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754120 SCV000777923 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754121 SCV000777924 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754122 SCV000777925 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754123 SCV000777926 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754124 SCV000777927 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754125 SCV000777928 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754126 SCV000777929 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754127 SCV000777930 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754128 SCV000777931 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754129 SCV000777932 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754130 SCV000777933 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754131 SCV000777934 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754132 SCV000777935 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754133 SCV000777936 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754134 SCV000777937 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754135 SCV000777938 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754136 SCV000777939 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754137 SCV000777940 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754138 SCV000777941 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754139 SCV000777942 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754140 SCV000777943 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754141 SCV000777944 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754142 SCV000777945 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754143 SCV000777946 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754144 SCV000777947 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754145 SCV000777948 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754146 SCV000777949 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754147 SCV000777950 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754148 SCV000777951 pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754149 SCV000777952 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754150 SCV000777953 pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754151 SCV000777954 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754152 SCV000777955 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754153 SCV000777956 pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754154 SCV000777957 pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754155 SCV000777958 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754156 SCV000777959 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754157 SCV000777960 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754158 SCV000777961 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754159 SCV000777962 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754160 SCV000777963 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754161 SCV000777964 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754162 SCV000777965 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754163 SCV000777966 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754164 SCV000777967 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754165 SCV000777968 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754166 SCV000777969 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754167 SCV000777970 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754168 SCV000777971 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754169 SCV000777972 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754170 SCV000777973 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754171 SCV000777974 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754172 SCV000777975 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754173 SCV000777976 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754174 SCV000777977 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754175 SCV000777978 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754176 SCV000777979 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754177 SCV000777980 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754178 SCV000777981 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754179 SCV000777982 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754180 SCV000777983 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754181 SCV000777984 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754182 SCV000777985 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754183 SCV000777986 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754184 SCV000777987 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754185 SCV000777988 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754186 SCV000777989 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754187 SCV000777990 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754188 SCV000777991 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754189 SCV000777992 pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754190 SCV000777993 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754191 SCV000777994 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754192 SCV000777995 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754193 SCV000777996 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754194 SCV000777997 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754195 SCV000777998 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754196 SCV000777999 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754197 SCV000778000 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754198 SCV000778001 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754199 SCV000778002 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754200 SCV000778003 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754201 SCV000778004 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754202 SCV000778005 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754203 SCV000778006 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754204 SCV000778007 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754205 SCV000778008 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754206 SCV000778009 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754207 SCV000778010 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754208 SCV000778011 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754209 SCV000778012 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754210 SCV000778013 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754211 SCV000778014 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754212 SCV000778015 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754213 SCV000778016 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754214 SCV000778017 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754215 SCV000778018 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754216 SCV000778019 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754217 SCV000778020 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754218 SCV000778021 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754219 SCV000778022 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754220 SCV000778023 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754221 SCV000778024 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754222 SCV000778025 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754223 SCV000778026 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754224 SCV000778027 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754225 SCV000778028 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754226 SCV000778029 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754227 SCV000778030 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754228 SCV000778031 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754229 SCV000778032 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754230 SCV000778033 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754231 SCV000778034 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754232 SCV000778035 pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754233 SCV000778036 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754234 SCV000778037 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754235 SCV000778038 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754236 SCV000778039 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754237 SCV000778040 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754238 SCV000778041 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754239 SCV000778042 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754240 SCV000778043 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754241 SCV000778044 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754242 SCV000778045 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754243 SCV000778046 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754244 SCV000778047 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754245 SCV000778048 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754246 SCV000778049 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754247 SCV000778050 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754248 SCV000778051 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754249 SCV000778052 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754250 SCV000778053 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754251 SCV000778054 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754252 SCV000778055 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754253 SCV000778056 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754254 SCV000778057 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754255 SCV000778058 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754256 SCV000778059 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754257 SCV000778060 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754258 SCV000778061 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754259 SCV000778062 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754260 SCV000778063 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754261 SCV000778064 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754262 SCV000778065 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754263 SCV000778066 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754264 SCV000778067 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754265 SCV000778068 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754266 SCV000778069 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754267 SCV000778070 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754268 SCV000778071 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754269 SCV000778072 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754270 SCV000778073 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754271 SCV000778074 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754272 SCV000778075 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754273 SCV000778076 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754274 SCV000778077 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754275 SCV000778078 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754276 SCV000778079 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754277 SCV000778080 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754278 SCV000778081 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754279 SCV000778082 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754280 SCV000778083 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754281 SCV000778084 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754282 SCV000778085 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754283 SCV000778086 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754284 SCV000778087 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754285 SCV000778088 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754286 SCV000778089 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754287 SCV000778090 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754288 SCV000778091 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754289 SCV000778092 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754290 SCV000778093 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754291 SCV000778094 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754292 SCV000778095 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754293 SCV000778096 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754294 SCV000778097 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754295 SCV000778098 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754296 SCV000778099 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754297 SCV000778100 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754298 SCV000778101 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754299 SCV000778102 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754300 SCV000778103 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754301 SCV000778104 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754302 SCV000778105 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754303 SCV000778106 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754304 SCV000778107 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754305 SCV000778108 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754306 SCV000778109 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754307 SCV000778110 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754308 SCV000778111 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754309 SCV000778112 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754310 SCV000778113 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754311 SCV000778114 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754312 SCV000778115 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754313 SCV000778116 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754314 SCV000778117 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754315 SCV000778118 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754316 SCV000778119 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754317 SCV000778120 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754318 SCV000778121 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754319 SCV000778122 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754320 SCV000778123 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754321 SCV000778124 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754322 SCV000778125 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754323 SCV000778126 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754324 SCV000778127 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754325 SCV000778128 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754326 SCV000778129 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754327 SCV000778130 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754328 SCV000778131 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754329 SCV000778132 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754330 SCV000778133 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754331 SCV000778134 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754332 SCV000778135 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754333 SCV000778136 pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754334 SCV000778137 pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754335 SCV000778138 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754336 SCV000778139 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754337 SCV000778140 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754338 SCV000778141 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754339 SCV000778142 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754340 SCV000778143 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754341 SCV000778144 likely pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754342 SCV000778145 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754343 SCV000778146 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754344 SCV000778147 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754345 SCV000778148 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754346 SCV000778149 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754347 SCV000778150 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754348 SCV000778151 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754349 SCV000778152 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754350 SCV000778153 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754351 SCV000778154 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754352 SCV000778155 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754353 SCV000778156 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754354 SCV000778157 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754355 SCV000778158 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754356 SCV000778159 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754357 SCV000778160 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754358 SCV000778161 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754359 SCV000778162 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754360 SCV000778163 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754361 SCV000778164 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754362 SCV000778165 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754363 SCV000778166 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754364 SCV000778167 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754365 SCV000778168 pathogenic Autistic disorder of childhood onset; Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754366 SCV000778169 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754367 SCV000778170 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754368 SCV000778171 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754369 SCV000778172 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754370 SCV000778173 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754371 SCV000778174 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754372 SCV000778175 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754373 SCV000778176 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754374 SCV000778177 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754375 SCV000778178 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754376 SCV000778179 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754377 SCV000778180 likely pathogenic Schizophrenia 2018-03-20 criteria provided, single submitter research
Department of Psychiatry,Nagoya University RCV000754378 SCV000778181 likely pathogenic Autistic disorder of childhood onset 2018-03-20 criteria provided, single submitter research
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano RCV000754403 SCV000787664 uncertain significance Primary amenorrhea 2018-06-01 criteria provided, single submitter research
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano RCV000754413 SCV000787674 likely benign Primary amenorrhea 2018-06-01 criteria provided, single submitter research
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano RCV000754469 SCV000787730 uncertain significance Primary amenorrhea 2018-06-01 criteria provided, single submitter research
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano RCV000754473 SCV000787734 likely benign Primary amenorrhea 2018-06-01 criteria provided, single submitter research
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano RCV000754474 SCV000787735 uncertain significance Primary amenorrhea 2018-06-01 criteria provided, single submitter research
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano RCV000754479 SCV000787740 uncertain significance Primary amenorrhea 2018-06-01 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000754946 SCV000788371 pathogenic Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000754969 SCV000788396 pathogenic 1q24q25 microdeletion syndrome 2018-05-01 criteria provided, single submitter research
Counsyl RCV000668947 SCV000793630 uncertain significance Galactosylceramide beta-galactosidase deficiency 2017-08-25 criteria provided, single submitter clinical testing
Counsyl RCV000669077 SCV000793779 uncertain significance Galactosylceramide beta-galactosidase deficiency 2017-08-30 criteria provided, single submitter clinical testing
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677149 SCV000803309 pathogenic not provided 2018-04-03 criteria provided, single submitter provider interpretation This duplication was identified in a 20 year old female with mild intellectual disability, superimposed expressive language disorder, and ADHD symptoms. X-inactivation analysis showed 84:16 ratio, consistent with moderate skewing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677150 SCV000803310 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This deletion was identified in an 8 year old female with developmental delays, severe superimposed expressive language disorder, uncertain overall intellectual abilities, ventricular septal defect, short stature, and hypertonia. Jaundice and sacral dimple were noted at birth. Notable facial features include: microcephaly, midface hypoplasia, triangular facies, fine hair, high forehead with broad and prominent brow, protruding low-set ears, epicanthus, deep-set eyes, sparse eyebrows, broad nasal root with low bridge, anteverted nares, small nasal tip, thin lips, small mouth, and small chin. She has proximally placed thumbs with small, abnormal nails. Renal ultrasound was normal. Additionally, a de novo, 23.7 Mb duplication on 9p was identified in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677151 SCV000803311 pathogenic not provided 2018-04-03 criteria provided, single submitter provider interpretation This duplication was identified in an 8 year old female with developmental delays, severe superimposed expressive language disorder, uncertain overall intellectual abilities, ventricular septal defect, short stature, and hypertonia. Jaundice and sacral dimple were noted at birth. Notable facial features include: microcephaly, midface hypoplasia, triangular facies, fine hair, high forehead with broad and prominent brow, protruding low-set ears, epicanthus, deep-set eyes, sparse eyebrows, broad nasal root with low bridge, anteverted nares, small nasal tip, thin lips, small mouth, and small chin. She has proximally placed thumbs with small, abnormal nails. Renal ultrasound was normal. Additionally, a de novo, 212 kilobase deletion on 9p was identified in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677152 SCV000803312 uncertain significance not provided 2018-04-05 criteria provided, single submitter provider interpretation This deletion was identified in a 14 year old male with intellectual disability, phonological disorder, ADHD, disruptive behavior, sleep disturbance, and constipation. Renal ultrasound revealed mild left-sided hydronephrosis, but kidneys were otherwise normal. The deletion was not found in his mother but the father was not available for testing. There is a paternal family history of behavior and developmental problems.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677153 SCV000803313 pathogenic Brain malformations and urinary tract defects 2018-03-01 criteria provided, single submitter provider interpretation This deletion was identified in an 18 year old female with autism spectrum disorder, learning disorder, macrocephaly, and ADHD. Brain MRI at age 2 months showed thinned and high riding corpus callosum. The same deletion was identified in her younger twin sisters, who are more severely impaired, as well as her mother, who has some learning disability but who lives independently.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677155 SCV000803315 uncertain significance not provided 2017-03-27 criteria provided, single submitter provider interpretation This duplication was identified in an 11 year old male with mild to moderate intellectual disability, hyperkinesis, atypical stereotypic movement disorder, disruptive behavior, borderline microcephaly (51.40 cm), short stature (2%ile), and dysmorphic features. The duplication was paternally inherited, and the patient's father is unaffected. Of note, this patient also carries a maternally-inherited VUS in EFNB1 and VUS of unknown inheritance in TLK2.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677156 SCV000803316 pathogenic Juvenile polyposis syndrome 2017-05-01 criteria provided, single submitter provider interpretation This deletion was identified in an 8 year old male with autism spectrum disorder and intellectual disability. The patient has not yet had a colonoscopy or endoscopy but is scheduled to begin that surveillance at age 15. His cardiac evaluation was normal.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677157 SCV000803317 likely pathogenic not provided 2017-05-01 criteria provided, single submitter provider interpretation This duplication was identified in an 8 year old male with autism spectrum disorder and intellectual disability. Given the size of the duplication, the variant has been classified as likely pathogenic.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677160 SCV000803320 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This approximately 747 kilobase duplication was identified in a male with autism spectrum disorder. This region includes 5 OMIM genes, of which VSP37A and FGF20 have been associated with clinical conditions. Both are associated with autosomal recessive conditions - spastic paraplegia 53 and renal hypoplasia/aplasia 2 respectively. Parental testing has not been completed to date.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677161 SCV000803321 uncertain significance not provided 2018-04-04 criteria provided, single submitter provider interpretation This 2.6 Mb duplication was identified in a patient with a history of mild intellectual disability, superimposed severe expressive language disorder, congenital heart defect, seizure disorder, and rectal prolapse. The duplication includes approximately 25 known genes. Larger duplications have been reported in individuals with postnatal growth retardation, microcephaly, and characteristic facies (Grossman et al. 2009). This duplication was found to be paternally inherited. The patient's father has a history of speech delay and obesity.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677162 SCV000803322 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This approximately 395 kilobase duplication was identified in a male with a history of microcephaly, congenital lymphedema of the feet, superimposed expressive language disorder, popliteal cysts and intellectual disability. The duplication includes 7 OMIM genes. Two of these genes are associated with known conditions - TUBB2A and TUBB2B. Heterozygous missense variants in TUBB2B are associated with microcephaly, brain abnormalities, developmental delays, intellectual disability, and seizures. Heterozygous missense variants in TUBB2A have been associated with hypotonia, brain abnormlities, seizures, and intellectual disability. The effect of a duplication of these genes is unclear. This duplication was found to be paternally inherited. The patient's father has a reported history of a learning disability and speech delay.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677163 SCV000803323 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This approximately 3.3 Mb deletion was detected in an individual with a history of intellectual disability, dyspraxia, hypotonia, epicanthal folds, long facies with bitemporal narrowing, scoliosis, and increased joint laxity. A smaller, nested deletion was described in a patient with developmental delay, muscle hypotonia, dysmorphic features, and skeletal abnormalities (Shimojima et al. 2009). Several similar deletions have also been submitted to ClinVar (SCV000178752; SCV000175474; SCV000502982; SCV000502982). Parental testing has not been completed to date.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677165 SCV000803325 uncertain significance not provided 2017-12-01 criteria provided, single submitter provider interpretation This 582 kilobase duplication was identified in an individual with a history of developmental delay with borderline intellectual ability, developmental language impairment, umbilical hernia, and unilateral inguinal hernia. It includes 8 genes: CRLD2, CSF2RA, IL3RA, SLC25A6, ASMTL-AS1, ASMTL, P2RY8, AKAP17A, ASMT. The majority of these genes are not associated with known conditions. The CSF2RA gene is associated with hereditary pulmonary alveolar proteinosis, caused by loss of function of CSF2RA due to gene deletion or protein truncation. The ASMT gene has been implicated as potentially associated with autism spectrum disorders. Several association studies have published a possible increased risk for autism; however, additional studies failed to duplicate this association. Additionally, one publication (Cai et al. 2008) found an interstitial duplication of ASMT at a higher frequency in individuals with autism spectrum disorders compared to controls. This duplication included at least exons 2-8 of ASMT. The significance of entire gene duplications is unclear. Parental testing has not been completed to date.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677169 SCV000803329 uncertain significance not provided 2018-03-28 criteria provided, single submitter provider interpretation This deletion was identified in a 10 year old male with mild hypotonia, autism spectrum disorder, learning disorder, OCD, ADHD, macrocephaly, borderline to mildly impaired verbal abilities with a large verbal/performance split, and was found to be paternally inherited. Proband's father has a history of depression and ADHD, along with a family history of autism. This deletion is within the RBFOX1 (also known as A2BP1) gene, which has not been clearly associated with human diseases. RBFOX1 has been implicated in a range of neurodevelopmental diseases including forms of epilepsy and autism spectrum disorders. It is not clear whether this deletion is related to the patient's neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677170 SCV000803330 uncertain significance not provided 2018-03-30 criteria provided, single submitter provider interpretation This duplication was identified in a 13 year old male with borderline intellectual functioning, superimposed expressive communication impairment/verbal apraxia, sleep disturbance, mood lability, irritability, and aggression. Parental testing for this duplication was not completed. Proband is a known carrier of a pathogenic 16p11.2 deletion, to which his symptoms are attributed. Within this duplication three OMIM genes are included; NF2, NEFH, and a portion of EWSR1. The clinical significance of a duplication of these genes is not currently known.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677171 SCV000803331 pathogenic Breast-ovarian cancer, familial 2 2018-04-12 criteria provided, single submitter provider interpretation This deletion was identified in a 12 year old male with intellectual disability, autism spectrum disorder, anxiety, and obesity. Parental testing was not completed. This deletion includes three genes, including a portion of BRCA2. The patient's father has a strong family history of breast cancer in individuals under the age of 40 and so the deletion is likely paternally inherited. The father has a history of eye problems (ptosis, pain, diplopia), hypertension, and high cholesterol. Patient has a sister with autism who has not been tested for this deletion. The clinical significance of this deletion for the patient's current symptoms remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677172 SCV000803332 uncertain significance not provided 2018-04-13 criteria provided, single submitter provider interpretation This duplication was identified in a 12 year old male with ADHD, oppositional defiant disorder, and a history of language disorder, and was found to be paternally inherited. The patient's father was born with bilateral polydactyly and a congenital heart anomaly. This duplication includes 4 genes, none of which are currently associated with a known clinical syndrome. DECIPHER reports one individual with a small duplication within this region in an individual with hypotonia, intellectual disability/developmental delay, microcephaly, proportionate short stature, and strabismus. The clinical significance of three copies of these genes remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677173 SCV000803333 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 2018-04-13 criteria provided, single submitter provider interpretation This deletion was identified in a 21 year old female with developmental delays and intellectual disability. Parental testing was not completed. This deletion contains approximately 50 genes including MPZ, PPOX, ATP1A2, and SDHC. She is at risk for developing Charcot-Marie-Tooth syndrome (type 1B, 2I, 2J, and dominant intermediate D), porphyria variegata, Hereditary Paraganglioma and Pheochromocytoma syndrome, and has an increased risk for migraines based on this deletion. Notably, she currently has no muscular symptoms consistent with CMT, nor any skin findings consistent with porphyria. Similar overlapping deletions have been seen in individuals with symptoms included but not limited to: intellectual disability, proportionate short statue, dysmorphic features, bilateral cleft lip/palate, hemiatrophy, hypodysplasia of corpus callosum, IUGR, and complex heart defects. This individual also has 16p11.2 deletion syndrome, identified through chromosomal microarray, which is also likely contributing to her developmental phenotype.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000754985 SCV000803395 uncertain significance Intestinal malrotation 2018-06-11 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000754990 SCV000803400 pathogenic Intestinal malrotation 2018-06-11 criteria provided, single submitter research
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677908 SCV000804063 likely pathogenic Cystinuria 2016-06-16 criteria provided, single submitter provider interpretation This deletion was identified in a 6 year old female with developmental delays, microcephaly, craniosynostosis, hypertrophic cardiomyopathy, and history of acute lymphoid leukemia in remission. This deletion was inherited from a mother with a history of a kidney stone and the maternal grandfather is reported to have multiple kidney stones. Follow up testing for the proband showed elevated urine amino acids. This result indicates carrier status for cystinuria, at minimum. Additionally, 3 variants of uncertain significance were identified by exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677909 SCV000804064 uncertain significance not provided 2018-03-19 criteria provided, single submitter provider interpretation This duplication was identified in a 5 year old male with global developmental delay. Brain MRI at age 26 months showed a slightly delayed myelination pattern. Parental testing was not completed. There is a family history of learning and psychiatric illness on both the maternal and paternal side, and a paternal family history of seizures. No facial dysmorphisms were noted.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677910 SCV000804065 pathogenic not provided 2018-04-03 criteria provided, single submitter provider interpretation This deletion was identified in a 5 year old male with global developmental delays, velopharyngeal insufficiency, VSD, PFO, recurrent otitis media, mild astigmatism, bilateral single transverse palmar creases, narrow left palpebral fissure, full lips, bowed upper lip, and 5th finger clinodactyly. Brain MRI showed mega cisterna magna but was otherwise unremarkable. Parental testing was not completed.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677911 SCV000804066 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This duplication was identified in a 5 year old male with global developmental delays, velopharyngeal insufficiency, VSD, PFO, recurrent otitis media, mild astigmatism, bilateral single transverse palmar creases, narrow left palpebral fissure, full lips, bowed upper lip, and 5th finger clinodactyly. Brain MRI showed mega cisterna magna but was otherwise unremarkable. Parental testing was not completed. Additionally, a 2.478 Mb pathogenic chromosomal deletion was identified in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677912 SCV000804067 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This duplication was identified in a 6 year old female with slightly upslanted palpebral fissures and autism spectrum disorder. She was born at term with significant issues in the neonatal period including meconium aspiration with respiratory distress, hypotension, metabolic acidosis, HIE, persistent fetal circulation, adrenal hypofunction, thrombocytopenia, and anemia. Parental testing was not available.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677913 SCV000804068 uncertain significance not provided 2018-02-05 criteria provided, single submitter provider interpretation This deletion was identified in a 5 year old female with autism spectrum disorder, global developmental delays, hyperkinesis, ADHD, feeding problems, sleep problems, and wide spaced teeth. The deletion was inherited from a father with ADHD and bipolar disorder. Follow up ophthalmological exam was normal and the father has normal vision. This history supports the putative PAX6 downstream regulatory region proposed by Balay et al, 2015 (PMID:26419218), which is not included in this patient's deletion region. It is not clear whether this deletion is related to the patient neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677914 SCV000804069 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This deletion was identified in a 20 year old male with autism spectrum disorder, sleep disturbance, mood disorder, anxiety, macrocephaly, a vocal tic, and obesity. He has astigmatism, eczema, and a history of frequent epistaxis. There is no paternal history of neurodevelopmental disorders.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677915 SCV000804070 likely benign not provided 2018-04-05 criteria provided, single submitter provider interpretation This deletion was identified in a 7 year old male with a history of global developmental delay (intellectual ability are uncertain) and superimposed expressive language delay. He has echolalia and will point in a protoimperative and protodeclarative manner. He is making progress with expressing emotions and will follow a familiar two-step command. He was found to have a pathogenic 8.2 Mb duplication of 18p11.32p11.22 by microarray.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677916 SCV000804071 pathogenic not provided 2018-04-05 criteria provided, single submitter provider interpretation This duplication was identified in a 7 year old male with a history of global developmental delay (intellectual ability are uncertain) and superimposed expressive language delay. He has echolalia and will point in a protoimperative and protodeclarative manner. He is making progress with expressing emotions and will follow a familiar two-step command. The duplication was also found in the patient's mother, who has a history of ADHD and learning disability.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677917 SCV000804072 uncertain significance not provided 2018-04-05 criteria provided, single submitter provider interpretation This duplication was identified in a 9 year old male with mild intellectual disability, expressive language delay, inattentiveness, and hyperkinesis. The duplication was inherited from a mother with no significant neurodevelopmental problems.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677918 SCV000804073 pathogenic not provided 2018-04-05 criteria provided, single submitter provider interpretation This deletion was identified in a 5 year old male with global developmental delays, mild neuromotor abnormalities, stereotypy, macrocephaly, and large stature. He is monitored for seizures due to spells. He has had normal cardiac echo and ECG, normal cranial ultrasound, normal renal ultrasound (except for a urachal cyst). The deletion was inherited from a father with a history of speech delay, learning disability, bipolar disorder, depression, anxiety, substance abuse, heart murmur, and congenital pancreatic divisum.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677919 SCV000804074 likely benign not provided 2018-02-26 criteria provided, single submitter provider interpretation This duplication was identified in a 10 year old male with autism spectrum disorder, large stature, anxiety, compulsive behavior, and uncertain intellectual abilities. The duplication was inherited from the patient's mother, who does not report learning or developmental problems. There is a maternal family history of psychiatric illness. Additionally, a de novo copy number gain at 19p13.2 was identified by CMA, and 2 variants of uncertain significance were identified by exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677920 SCV000804075 uncertain significance not provided 2018-02-26 criteria provided, single submitter provider interpretation This duplication was identified in a 10 year old male with autism spectrum disorder, large stature, anxiety, compulsive behavior, and uncertain intellectual abilities and was found to be de novo. Additionally, a maternally-inherited copy number gain at 6p22.3 was identified by CMA, and 2 variants of uncertain significance were identified by exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677921 SCV000804076 likely pathogenic not provided 2018-02-05 criteria provided, single submitter provider interpretation This duplication was identified in a 9 year old male with agenesis of the corpus callosum, macrocephaly secondary to enlarged third ventricle, ADHD, and a family history of psychiatric illness. His biological mother has agenesis of the corpus callosum, Tourette's syndrome, and depression. A maternal uncle has schizophrenia, agenesis of the corpus callosum, seizure disorder, and bipolar disorder. The maternal grandfather had schizophrenia and agenesis of the corpus callosum, and a maternal great uncle also had agenesis of the corpus callosum. Parental or other family member testing was not possible. This duplication includes the SHH gene and additional duplications in the literature suggest it is causative for this patient's clinical features (Heide, 2017; Wong, 2015).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677922 SCV000804077 likely pathogenic Mental retardation, autosomal dominant 18 2018-02-05 criteria provided, single submitter provider interpretation This deletion was identified in a 4 year old female with global developmental delays, macrocephaly, telecanthus, and a wide based gait. It was found to be de novo and likely impacts expression of the GATAD2B gene due to loss of regulatory region. Clinical correlation with previously reported patients with GATAD2B-related disorder was thought to be very good. In addition, this patient has a paternally-inherited, likely benign duplication at 4q22.3.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677923 SCV000804078 likely benign not provided 2018-02-05 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old female with global developmental delays, macrocephaly, telecanthus, and a wide based gait. It was inherited from a clinically unaffected father. In addition, this patient carries a de novo, likely pathogenic deletion at 1q21.3.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677924 SCV000804079 uncertain significance not provided 2018-02-26 criteria provided, single submitter provider interpretation This duplication was identified in a 17 year old male with learning disorder and high functioning autism spectrum disorder. He has a recent diagnosis of sinus tachycardia. This duplication was inherited from the patient's mother, who has a history of anxiety disorder and obsessive-compulsive disorder. Her identical twin sister has a history of depression and severe obsessive-compulsive disorder. This patient's sister, who has mild autism and a phonological disorder, also carries this duplication.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677925 SCV000804080 uncertain significance not provided 2018-02-05 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with mild global developmental delays, receptive/expressive language disorder, hypotonia, microcephaly, and short stature. Brain MRI revealed pachygyria. Ophthalmology and endocrinology evaluations were normal. This patient's mother, who carries this variant, has learning disability. She has not had subsequent brain imaging. In addition, this patient and his mother were found to carry a novel missense variant in the TUBB2B gene.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677926 SCV000804081 pathogenic not provided 2018-04-05 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old female with global developmental delays, hearing impairment, sleep problems, short stature, esotropia, chronic constipation, anemia, and small PFO. Renal ultrasound was normal. Notable facial features include a long, narrow face, upslanting palpebral fissures, infraorbital creases, bulbous nasal tip, anteverted nares, and mild retrognathia. This patient also has a pathogenic 39 Mb terminal deletion of Xp22.3p11.2. These copy number variants are a result of a de novo rearrangement: 46,X,der(X)t(X;15)(p11.4;q11.2).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677927 SCV000804082 pathogenic not provided 2018-04-05 criteria provided, single submitter provider interpretation This deletion was identified in a 4 year old female with global developmental delays, hearing impairment, sleep problems, short stature, esotropia, chronic constipation, anemia, and small PFO. Renal ultrasound was normal. Notable facial features include a long, narrow face, upslanting palpebral fissures, infraorbital creases, bulbous nasal tip, anteverted nares, and mild retrognathia. This patient also has a pathogenic 71 Mb terminal duplication of 15q13.2q26.3. These copy number variants are a result of a de novo rearrangement: 46,X,der(X)t(X;15)(p11.4;q11.2).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677928 SCV000804083 likely benign not provided 2018-02-26 criteria provided, single submitter provider interpretation This duplication was identified in a 6 year old male with a language disorder, delayed adaptive skills, hypotonia, and short stature. It was inherited from his clinically unaffected mother, who also has no vision abnormalities. Copy number gains of the GUCA1A and GUCA1B genes have been observed in the ExAC database.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677929 SCV000804084 uncertain significance not provided 2017-06-12 criteria provided, single submitter provider interpretation This duplication was identified in a 3 year old female with develomental delays. She is non-dysmorphic and has a strong maternal family history of psychiatric disorders, seizures, and intellectual disability. Paternal history is unknown. Parental samples were not available for testing. Additionally, a variant of uncertain significance was identified by whole exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677930 SCV000804085 uncertain significance not provided 2017-08-03 criteria provided, single submitter provider interpretation This deletion was identified in a 3 year old male with global developmental delay, expressive language disorder, mild hypotonia, short stature, dolichocephaly, laterally arched eyebrows, epicanthal folds, bulbous nasal tip, bowed upper lip, small toes, sleep disorder, and a history of prematurity. It was inherited from an unaffected mother. It is also a fairly gene-poor region. Additionally, whole exome sequencing identified a de novo, likely pathogenic sequence variant which most likely explains this patient's clinical history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677931 SCV000804086 pathogenic Becker muscular dystrophy 2017-05-16 criteria provided, single submitter provider interpretation This deletion was identified in a 10 year old male with mild intellectual disability, ADHD, oppositional-defiant disorder, and a history of gastroschisis. Muscle tone and strength appeared normal on exam and there were no gait abnormalities. CK levels, taken after identification of DMD deletion, were significantly elevated (2287).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677932 SCV000804087 pathogenic not provided 2017-10-31 criteria provided, single submitter provider interpretation This deletion was identified in a 4 year old female with autism spectrum disorder, global developmental delay, and mild hypotonia. She walked at age 2 but currently there are no motor concerns. She has significant language delay with no spoken words, does not point to request, and appears to understand only a few words (receptive age equivalent 10 months). She is slightly short (5th percentile). She has a long philtrum but is otherwise non-dysmorphic.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677933 SCV000804088 uncertain significance not provided 2018-03-29 criteria provided, single submitter provider interpretation This deletion was identified in a 6 year old male with autism spectrum disorder, disruptive behavior, hyperactivity, persistent insomnia, coordination disorder, and cyclic vomiting syndrome. Only a maternal sample was available for testing, and the patient's mother does not carry the deletion. Of note, this patient also carries a variant of uncertain significance in the ADCY5 gene.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677934 SCV000804089 pathogenic Schizophrenia 17 2017-07-29 criteria provided, single submitter provider interpretation This deletion was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. There is an extensive family history of substance abuse, psychiatric diagnoses, and learning disabilities. Two additional copy number variants were also identified in this patient, one likely pathogenic and one of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677935 SCV000804090 likely pathogenic Spinocerebellar ataxia 27 2017-07-29 criteria provided, single submitter provider interpretation This deletion was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. There is no family history of movement disorders. The patient does not currently show any signs of tremor, dyskinesia, or ataxia. He is described by his family as more uncoordinated than his peers. There are reports of individuals with FGF14-related cerebellar ataxia not presenting with motor abnormalities until later in childhood, so the patient will continue to be monitored. Two additional copy number variants were also identified in this patient, one that is pathogenic and one of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677936 SCV000804091 uncertain significance not provided 2017-07-29 criteria provided, single submitter provider interpretation This duplication was identified in a 5 year old male with mild intellectual disability, ADHD, mild phonological disorder, and disruptive behavior disorder. Parental testing was not completed. The region is not known to vary in copy number in the normal population, but none of the genes in the region are currently associated with known clinical disorders. Two additional copy number variants were also identified in this patient, one that is pathogenic and one that is likely pathogenic.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677937 SCV000804092 uncertain significance not provided 2014-11-12 criteria provided, single submitter provider interpretation This deletion was identified in a 7 year old male with global developmental delays, phonological disorder, ADHD, and disruptive behavior. The deletion was inherited from his mother, who has a history of learning disabilities and ADHD. The deletion is also present in the patient's brother, who has a history of abnormal number of umbilical cord vessel, cardiac defect, and bilateral clubfoot deformity.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677938 SCV000804093 pathogenic Deafness, autosomal recessive 16 2018-03-29 criteria provided, single submitter provider interpretation This deletion was identified in a 3 year old female with bilateral sensorineural hearing loss, mixed receptive-expressive language disorder, mild visual-motor delay, mild hypotonia, and gross motor delay. While parental studies have not been done, both of the patient's sisters are homozygous for the same 15q15.3 deletion and both have hearing impairments, suggesting that the parents are each a carrier of the deletion.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677939 SCV000804094 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2017-02-06 criteria provided, single submitter provider interpretation This deletion was identified in an 8 year old female with autism spectrum disorder and intellectual disability. The deletion was maternally inherited, and the mother has a history of language delays in childhood, learning impairment, depression, anxiety, and bipolar disorder. She reported a family history of Duchenne muscular dystrophy. One of the patient's maternal uncles died at age 21, and another maternal uncle died at age 12 following anesthesia complications during surgery; they were both reported to have DMD. Neither the patient nor her mother have been evaluated by cardiology to assess for cardiomyopathy. Additionally, neither the patient nor her mother have a history of muscle weakness or gait abnormalities.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677940 SCV000804095 likely pathogenic Nemaline myopathy 6 2018-04-12 criteria provided, single submitter provider interpretation This deletion was identified in a 12 year old male with autism spectrum disorder, history of right talipes equinovarus, and leg length discrepancy. Parental studies (targeted microarray and FISH analysis) revealed that this deletion arose de novo.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677942 SCV000804097 pathogenic not provided 2018-04-15 criteria provided, single submitter provider interpretation This duplication was identified in a 5 year old female with global developmental delays, short stature, basiocciput hyperplasia and associated basilar invagination, and an arachnoid cyst. Parental studies were performed, and the duplication was found to be de novo.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677943 SCV000804098 pathogenic Axenfeld-Rieger syndrome type 3 2018-04-16 criteria provided, single submitter provider interpretation This deletion was identified in a 9 year old female with intellectual disability, microcephaly, craniosynostosis, left hemifacial microsomia, feeding disorder, congenital heart defects, congenital hypothyroidism, renal hypodysplasia/stage 3 chronic kidney disease, ptosis, alternating esotropia, recurrent otitis media, small teeth, and history of prematurity (born at 34 weeks). The deletion was inherited from the patient's father who carries a balanced chromosome translocation (46,XX,der(21),t(6;21)(p21.3q22.3)pat). Because of the patient's intolerance to opthalmological exams, it is not known whether or not she shows signs of glaucoma.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677944 SCV000804099 pathogenic not provided 2018-04-16 criteria provided, single submitter provider interpretation This duplication was identified in a 9 year old female with intellectual disability, microcephaly, craniosynostosis, left hemifacial microsomia, feeding disorder, congenital heart defects, congenital hypothyroidism, renal hypodysplasia/stage 3 chronic kidney disease, ptosis, alternating esotropia, recurrent otitis media, small teeth, and history of prematurity (born at 34 weeks). The duplication was inherited from the patient's father who carries a balanced chromosome translocation (46,XX,der(21),t(6;21)(p21.3q22.3)pat).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677945 SCV000804100 uncertain significance not provided 2017-10-09 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with global developmental delays. The duplication was paternally inherited, and the patient's father has a history of learning disabilities and bipolar disorder. The region is not known to vary in copy number in the normal population. The two genes in this region that are associated with human disease (SUMF1, ITPR1) are not known to cause disease when duplicated. Of note, this patient also carries the recurrent 22q11.2 duplication.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677946 SCV000804101 uncertain significance not provided 2018-04-15 criteria provided, single submitter provider interpretation This duplication was identified in an 18 year old male with mild intellectual disability, ADHD, disruptive behavior, and microcephaly (5th percentile). The patient's mother does not carry the duplication, and a paternal sample is unavailable.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677947 SCV000804102 uncertain significance not provided 2017-01-10 criteria provided, single submitter provider interpretation This deletion was identified in a 6 year old male with intellectual disability and motor stereotypies. The deletion was found to be maternailly-inherited; the patient's mother is unaffected. The deletion encompasses the non-coding exon 1 of RBFOX1. Haploinsuffiency of RBFOX1 has been implicated in several neurodevelopmental phenotypes, and some deletions have been inherited from a phenotypically normal parent. Of note, this patient also carries a paternally-inherited VUS in the SHANK2 gene.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677948 SCV000804103 uncertain significance Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 2015-10-30 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old female with autism spectrum disorder, global developmental delays, and a feeding disorder. Parental testing has not been performed. Family history is significant for a cerebrovascular accident in the patient's mother at age 36, but there is no known history of cardiomyopathy. Of note, this patient's whole exome sequencing has thus far been negative.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677949 SCV000804104 uncertain significance Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 2017-03-23 criteria provided, single submitter provider interpretation This duplication was identified in a 7 year old male with autism spectrum disorder. The duplication was maternally inherited, and his mother does not have a history of hearing impairment or learning disabilities. She does have a history of kidney stones; loss of function variants in AMMECR1, which is within this duplicated region, are associated with nephrocalcinosis. The patient does not have a history of any kidney concerns. Of note, the patient's whole exome sequencing has thus far been normal.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677950 SCV000804105 uncertain significance not provided 2017-06-13 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with autism spectrum disorder and global developmental delays. The duplication was maternally inherited, and this individual's mother does not have a history of neurodevelopmental disorders.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677951 SCV000804106 uncertain significance Mental retardation, autosomal dominant 26 2017-03-30 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with autism spectrum disorder, global developmental delays, and agenesis of the corpus callosum. The duplication was maternally-inherited, and the patient's mother has a history of depression and anxiety. The patient also carries a maternally inherited duplication of uncertain significance at 18q21.2. Of note, this patient's whole exome sequencing has thus far been normal.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677952 SCV000804107 uncertain significance Mirror movements 1 2017-03-30 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with autism spectrum disorder, global developmental delays, and agenesis of the corpus callosum. The duplcation was inherited from his mother, who has a history of anxiety and depression. The patient also carries a duplication of uncertain significance at 7q11.22. Of note, his whole exome sequencing has thus far been negative.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677953 SCV000804108 uncertain significance not provided 2017-03-26 criteria provided, single submitter provider interpretation This duplication was identified in a 7 year old male with autism spectrum disorder, history of developmental delays with uncertain intellectual abilities, and self-injurious behaviors. The duplication is maternally-inherited; the patient's mother has a history of anxiety and depression. Of note, the patient was found to carry a variant of uncertain significance in KIF4A through whole exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677954 SCV000804109 uncertain significance not provided 2014-01-24 criteria provided, single submitter provider interpretation This deletion was identified in a 15 year old male with autism spectrum disorder, intellecutal disability, disruptive behavior, sleep disturbances, and staring episodes. The deletion was found to be maternally inherited; his mother has a history of depression and phenomic disorder.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677955 SCV000804110 uncertain significance not provided 2017-05-01 criteria provided, single submitter provider interpretation This duplication was identified in a 16 year old female with autism spectrum disorder and intellectual disbaility. Parental studies were never performed, so inheritance is unknown.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677956 SCV000804111 uncertain significance not provided 2016-12-08 criteria provided, single submitter provider interpretation This duplication was identified in a 3 year old male with autism spectrum disorder and global developmental delays. The duplication was paternally inherited, and the patient's father has a history of learning disabilities, childhood speech delay, childhood seizures, and anxiety.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677957 SCV000804112 uncertain significance not provided 2017-06-08 criteria provided, single submitter provider interpretation This deletion was identified in a 16 year old male with intellectual disability and growth failure. Of note, this patient also carries a de novo likely pathogenic variant in the ZNF711 gene, which is felt to explain his intellectual disability. The patient's mother is unaffected.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677958 SCV000804113 pathogenic Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 2017-04-25 criteria provided, single submitter provider interpretation This deletion was identified in a 13 year old female with borderline intellectual disability, motor coordination disorder, ADHD, skull anomalies, history of neonatal seizure, and amblyopia. The patient's biological parents are unavailable for parental studies. There is no known family history of parathyroid cancer or thyroid disease. Of note, the patient also carries a pathogenic deletion at 16p11.2.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677959 SCV000804114 uncertain significance not provided 2017-05-01 criteria provided, single submitter provider interpretation This duplication was identified in a 3 year old female with autism spectrum disorder and global developmental delays. The duplication is maternally-inherited, and the mother has no history of neurodevelopmental disorders.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677960 SCV000804115 uncertain significance not provided 2017-05-17 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old female with global developmental delays and autism spectrum disorder. The duplication was found to be paternally inherited. The patient's father required learning supports in school.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677961 SCV000804116 uncertain significance not provided 2017-05-19 criteria provided, single submitter provider interpretation This deletion was identified in an 11 year old male with left hemiplegia, mild intellectual disability, seizure disorder, and hypothyroidism. Parental samples are unavailable, so inheritance is unknown.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677962 SCV000804117 uncertain significance Kallmann syndrome 1 2017-08-10 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old female with global developmental delays. Parental samples are unavailable, so inheritance is unknown.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677963 SCV000804118 uncertain significance not provided 2018-01-31 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with autism spectrum disorder and speech delay. The duplication was found to be maternally inherited, and the patient's mother received learning supports in school.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677964 SCV000804119 pathogenic Exudative vitreoretinopathy 1 2017-10-18 criteria provided, single submitter provider interpretation This deletion was identified in an 11 year old male with autism spectrum disorder and intellectual disability. The patient does not tolerate thorough opthalmological evaluations, but he is not reported to show any signs of retinopathy at his current age.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677965 SCV000804120 uncertain significance Plasminogen activator inhibitor type 1 deficiency 2017-10-18 criteria provided, single submitter provider interpretation This duplication was identified in an 11 year old male with autism spectrum disorder and intellectual disability. The duplication was maternally-inherited, and neither the patient nor his mother are reported to have abnormal bleeding after trauma or surgery.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677966 SCV000804121 uncertain significance not provided 2018-04-11 criteria provided, single submitter provider interpretation This duplication was identified in a 12 year old male with autism spectrum disorder, ADHD, history of global developmental delay (resolved, IQ currently in average range), and history of bilateral clubfoot deformity. The duplication was paternally inherited, and the patient's father has learning difficulties and a history of anxiety and depression.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677967 SCV000804122 uncertain significance not provided 2018-04-13 criteria provided, single submitter provider interpretation This duplication was identified in a 6 year old male with autism spectrum disorder, global developmental delay, hypotonia, a heart murmur, feeding problems, GERD, and a history of a unilaterial inguinal hernia, and was found to be maternally inherited. The patient's mother does not have a history of any neurodevelopmental disorders. Notably, neither this patient nor his mother have any hand, foot, or bone defects.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677968 SCV000804123 uncertain significance not provided 2018-04-13 criteria provided, single submitter provider interpretation This duplication was identified in a 6 year old male with autism spectrum disorder, global developmental delay, hypotonia, a heart murmur, feeding problems, GERD, and a history of a unilaterial inguinal hernia. The duplication was found to be maternally inherited. The patient's mother does not have a history of any neurodevelopmental disorders.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677969 SCV000804124 uncertain significance Macrocephaly, macrosomia, facial dysmorphism syndrome 2018-02-23 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with autism spectrum disorder, global developmental delay, and history of prematurity (born at 28 weeks). The duplication was maternally inherited, and the mother has a history of learning disability and depression.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677970 SCV000804125 uncertain significance not provided 2017-08-21 criteria provided, single submitter provider interpretation This 924 kilobase duplication includes portions of the NKAIN2 and TRDN genes. TRDN is associated with autosomal recessive catecholaminergic polymorphic ventricular tachycardia-5 with or without muscle weakness. NKAIN2 is not currently associated with any known disorders. Disruption of NKAIN2 due to de novo rearrangements have been reported in two patients previously (Yue et al. 2006; Bocciardi et al. 2005). One individual with disruption at exon 4 had a clinical history of a congenital heart defect, macrocephaly, undescended testes, recurrent infections, and developmental delays (Yue et al. 2006). The second individual's translocation disrupted the gene in intron 4 had a history of neurologic abnormalities including including epileptic encephalopathy with spastic tetraparesis and severe psychomotor retardation associated with cerebral atrophy with involvement of the periventricular white matter (Bocciardi et al. 2005). Similar, overlapping duplications have been reported in several individuals in DECIPHER including in an individual with cognitive impairment (Case: 300577) and an individual with short stature (Case:331671). Overlapping variants have also been submitted to dbVar/ClinVar previously (nssv582678; nsv2777188; nsv534388) and reported in developmental delay cohorts as well as in controls (nsv1022195; nsv1018599). A similar duplication has been reported in the literature in an individual with facial dysmorphism, severe developmental delay, complex neurological impairment and spasticity (Sheth et al. 2015). Both unaffected, consanguinous parents carried that duplication, however. Given that similar duplications have been reported in individuals with neurodevelopmental concerns as well as in control populations and unaffected parents, the clinical significance of this variant is unclear. This patient also had a maternally inherited, pathogenic 1q21.1q21.2 duplication identified on chromosomal microarray that provides an explanation for his autism spectrum disoder, speech delay, and other phenotypic features.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677971 SCV000804126 uncertain significance not provided 2017-10-31 criteria provided, single submitter provider interpretation This 259 kilobase duplication includes a portion of the PARK2 gene. The PARK2 gene is associated with autosomal recessive juvenile parkison disease type 2. Copy number variants (deletions and duplications) including PARK2 have been reported at a higher prevalence in individuals with ADHD compared to controls, suggesting deletions and duplications of PARK2 may be associated with increased susceptibility of ADHD (Jarick et al. 2014). Deletions and duplications including PARK2 have been suggested as a possible genetic suscpetibility of autism spectrum disorder (Glessner et al. 2009; Yin et al. 2016). A duplication also has been identified in an individual with cognitive impairments who is underweight and has short stature (Scheuerle & Wilson 2011). PARK2 partial gene duplications have been reported in DECIPHER in individuals with intellectual disability and behavioral abnormalities (279450; 279451). The copy number variants reported previously contain multiple exons, whereas, this patient's duplication only includes exon 2 of the gene. PARK2 copy number variants have also been identified in control populations (nsv605163; nsv605167; nsv1034495; nsv1021711; nsv1019976). Follow-up quantitative PCR confirmed overexpression of PARK2 in both the patient and his father suggesting this duplication was paternally inherited. The patient's father has a reported history of dyslexia and learning disability in early schooling. Based on the relatively low number of patients reported in the literature and the presence of duplications and deletions in healthy controls/unaffected parents, further evidence is needed to definitively classify this variant. Whole exome sequencing was also completed for this patient and a paternally inherited variant of uncertain significance was identified.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677972 SCV000804127 uncertain significance not provided 2017-10-07 criteria provided, single submitter provider interpretation This 758 kilobase deletion includes four genes - BEND3, PDSS2, SOBP, and SCML4. PDSS2 is associated with primary coenzyme Q10 deficiency -3 (OMIM 614652) and SOBP is associated with intellectual disability, anterior maxillary protrusion and strabismus (OMIM 613671). Smaller overlapping deletions have been reported in DECIPHER, including in an individual with global developmental delay, macrocephaly, and abnormality of the philtrum who was large for gestational age (Case 262370) and an individual with a de novo deletion with a history of autism spectrum disorder, delayed speech and language, intellectual disability, microcephaly, and ventricular septal defect (Case 254740). The deletion in our patient was found to be maternally inherited. The patient's mother reportedly had difficulty in reading and math but did not require additional learning supports. The patient also underwent clinical whole exome sequencing that was negative.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677973 SCV000804128 uncertain significance not provided 2017-10-30 criteria provided, single submitter provider interpretation The 211 kilobase duplication on chromosome 22 contains 4 genes (TXN2, FOXRED2, EIF3D, and a portion of CACNG2), none of which are known to be associated with a clinical disorder when duplicated. The TXN2 gene is associated with autosomal recessive oxidative phosphylation deficiency- 29 and CACNG2 has been reported to cause autosomal dominant intellectual disability due to loss of function variants. A smaller overlapping duplication was identified in a developmental delay cohort (nsv1064827). An overlapping duplication has also been reported in a control (nsv1060004). Parental testing for our patient showed that this variant was paternally inherited. The patient's father does not have a history of autism spectrum disorders or developmental differences making this variant less likely to be anexplanation for the patient's neurodevelopmental history. The patient also underwent whole exome sequencing that identified a de novo variant in a gene of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677974 SCV000804129 uncertain significance not provided 2018-02-02 criteria provided, single submitter provider interpretation This 507 kilobase duplication was detected in an individual with developmental delay, autism spectrum disorder, dermititis, and sleep difficulties. This duplication includes a portion of the TWIST2 and HDAC4 genes. TWIST2 is associated with the autosomal recessive disorder focal facial dermal dysplasis 3, Setleis type. Haploinsufficiency of HDAC4 is associated with brachydactyly-mental retardation syndrome. Duplications of these genes have not been associated with any particular conditions, however. The genetic testing laboratory indicated that they have seen duplications in the area, and several other duplications have been reported in DECIPHER, including a smaller overlapping variant in an individual with an abnormal face shape and intellectual disability (Case: 282651). This area is not known to vary in the general population. Parental testing has not been completed to date to determine if this variant is de novo or inherited.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677975 SCV000804130 likely pathogenic not provided 2017-11-16 criteria provided, single submitter provider interpretation This approximately 9.1 Mb deletion was detected in a 10 year old male with a history of expressive language disorder, autism spectrum disorder, sleep difficulties, and ADHD. This deletion includes 25 genes, 4 of which have been associated with clinical disorders. Two genes, NEK1 and MSMO1, are associated with autosomal recessive conditions indicating the patient is a carrier for these conditions. Heterozygous missense variants in the TLL1 gene have been associated with atrial septal defects (Stanczak et al. 2009). A single missense variant in PALLD has been reported to increase susceptibility to pancreatic cancer. PALLD has conflicting literature regarding its link to pancreatic cancer risk, however. Some publications indicate a risk while other literature refutes this. Functionally, this variant has been shown to result in overexpression of the gene, and overexpression of the gene is not expected with a gene deletion (Pogue-Geile et al. 2006). Overlapping deletions have been reported in the literature in an individual with Robin sequence, mild developmental delays and ulnar anomalies and another individual with congenital heart defect, growth delay, and minor skeletal anomalies (Keeling et al. 2001; Xu et al. 2012). Overlapping deletions have been identified in several individuals in DECIPHER including an individual with a broad forehead, downslanted palpebral fissures, high anterior hairline, and intellectual disability (Case 257358). An overlapping variant was also submitted to ClinVar/dbVar in an individual with abnormal facial shape and learning disability (nsv532029). A follow-up echocardiogram for the patient was normal. Parental follow-up testing identified that this deletion is secondary to a maternal balanced rearrangement. Maternal family history includes a relative with multiple miscarriages, a pregnancy with congenital anomaly of the brain/skull, and a child with a congenital heart defect suggesting others in the family may also carry the balanced rearrangement.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677976 SCV000804131 uncertain significance not provided 2018-03-16 criteria provided, single submitter provider interpretation This 305 kilobase duplication was identified in an individual with autism spectrum disorder, delayed milestones, hyperopia, and asthma. This duplication includes portions of the SHOX and PPP2R3B genes. Nonsense variants and deletions of SHOX have been reported in individuals with idiopathic short stature and Leri-Weill dyschondrosteosis (Huber et al. 2001; Niesler et al. 2002; Rappold et al. 2002). Partial or complete duplications of SHOX and/or its enhancer regions have also been reported in patients with these conditions (Thomas et al. 2009; Benito-Sanz et al. 2011). Duplications of SHOX have also been reported in individuals with tall stature. Tropeano et al. 2016 identified an enrichment of SHOX microduplications in individuals with neurodevelopmental disorders including autism sprectrum disorders compared to controls. The patient's father also was found to carry this duplication although testing could not determine if the variant is on his father's X or Y chromosome since its location on the Y chromosome in the patient could be the result of recombination between the X and Y chromosomes in his father. The patient's father is also of typical height but does have a reported history of speech delay and learning disability. The patient was found to also carry a maternally inherited, distal 16p11.2 deletion.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677977 SCV000804132 uncertain significance not provided 2018-03-19 criteria provided, single submitter provider interpretation This 393 kilobase duplication was identified in an individual with autism spectrum disorder, intellectual disability, ADHD, constipation, hypotonia, and expressive language disorder. This duplication is within cytogenetic band 16p13.3. The duplication includes 15 entire genes and the portion of two additional genes. Four genes are associated with clinical conditions - TSC2, PKD1, ABCA3, and TBC1D24. A portion of TSC2 is included in this duplication. Heterozygous loss of function variants in TSC2 are associated with tuberous sclerosis-2 and heterozygous loss of function variants in PKD1 are associated with adult type 1 polycystic kidney disease. ABCA3 is associated with autsomal recessive pulmonary surfactant metabolism dysfunction, and TBC1D24 is associated with several autosomal recessive conditions including early infantile epileptic encephalopathy, familial infantile myoclonic epilepsy, autosomal recessive deaness, and DOOR syndrome. Slightly larger duplications have been reported in DECIPHER in an individual with a kidney abnormality and mild intellectual disability (Case 263885) and in the general population in a single individual (chr16:2124547-2679656). No smaller overlapping duplications have been reported.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677978 SCV000804133 pathogenic not provided 2018-03-19 criteria provided, single submitter provider interpretation This 13.9 Mb duplication from cytogenetic band 20p12.2 to 20q11.21 was determined to be present in the form of a supernumerary marker chromosome in an 8 year old male with a history of syndactyly of the toes, speech delay, developmental delay, nystagmus, and spontaneous pneumothorax. In particular, this result likely is indicative of a ring chromosome. This supernumerary chromosome was identifid in 88% of cells. Ring chromosomes of a similar size have been reported in databases in and in the literature (http://ssmc-tl.com/sSMC.html; Daber et al. 2012; Kitsiou-Tzeli et al. 2009; Guediche et al. 2010). Reported phenotypes of individuals with supernumerary marker chromosome are highly variable with unaffected individuals, growth retardation, atrial septal defect, facial dysmorphism, and developmental delay (Daber et al. 2012; Guediche et al. 2010; Kitsiou-Tzeli et al. 2009).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677979 SCV000804134 uncertain significance not provided 2018-03-19 criteria provided, single submitter provider interpretation This 82 kilobase duplication was identified in a patient with a history of autism spectrum disorder and global developmental delay. The duplication includes only the NDP gene. Loss of function of the NDP is associated with Norrie disease and exudative vitreoretinopathy, features of which include blindness in infancy, progressive hearing loss, developmental delays, intellectual disability, and psychosis. Females may rarely have some clinical manifestations. The impact of duplications of the NDP gene are unclear. This region is not known to vary in the general population. The patient's mother was found to carry this same duplication.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677980 SCV000804135 uncertain significance not provided 2018-03-27 criteria provided, single submitter provider interpretation This 960 kilobase duplication was identified in a patient with a history of macrocephaly, dysmorphic features, atrial septal defect, agenesis of the corpus callosum, seizures, feeding disorder and global developmental delays. Parental testing confirmed this duplication was maternally inherited. This patient's mother has a reported history of anxiety, depression, and a mild learning disability. The duplication includes a portion of the CTNND2 gene, a gene that has been suggested to play a role in severity of intellectual disability in cri-du-chat syndrome. The impact of a partial duplication of this gene is unclear. Partial duplications have been reported in association with schizophrenia and in an individual with cerebral palsy (Vrijenhock et al. 2008; McMichael et al. 2014).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677981 SCV000804136 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This 1.1 Mb duplication within Xq12 was identified in a patient with a history of autism spectrum disorder and expressive speech delay. The duplication includes the EDA2R and AR genes. Smaller duplications within this region have been identified in individuals with intellectual disability (Madrigal et al. 2007; DECIPHER Case 249562). This duplication was identified in this patient's mother who has a reported history of a learning disability. A 15q11.2 deletion was also identified in this patient and his mother.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677982 SCV000804137 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This 431 kilobase duplication was identified in a female patient with a history of developmental delay, eczema, and a receptive-expressive language disorder. This duplication was inherited from the patient's mother who reportedly has a history of learning difficulties and anxiety. This duplication includes 13 genes. Of those genes, only STK13 has been associated with a clinical condition. Specifically, STK13 is associated with autosomal recessive spermatogenic failure in males. The relevance of a duplication of this, or any of the other included genes, is unknown. Smaller, overlapping duplications in this region have been reported in DECHIPER in an individual with macrocephaly, hydrocephalus, and intellectual disability (Case 288189), an individual with inappropriate behavior and intellectual disability (Case 288524), and an individual with intellectual disability and psychosis (Case 290429). Smaller, overlapping duplications have also been reported in controls (Cooper et al. 2011).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677983 SCV000804138 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This 804 kilobase deletion was identified in a patient with speech delay , hypotonia, disruptive behaviors, learning disorder and dysmorphic features. The deletion includes seven genes, none of which have been associated with clinical disorders. The deletion was not identified in the patient's mother. His father has not undergone testing to date.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677984 SCV000804139 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This 184 kilobase duplication was identified in a male with global developmental delay, microcephaly, autism spectrum disorder, hearing impairment, idiopathic toe walking, and dysmorphic features. The duplication includes 6 genes, only one of which, NSDHL, has been associated with a clinical condition. The effect of a duplication of this gene, or the others included, is unclear. The patient's mother was found to also carry this duplication. His mother does not have a reported history of neurodevelopmental concerns. The patient also underwent whole exome sequencing and was found to carry two variants of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677985 SCV000804140 likely pathogenic Dilated cardiomyopathy 1G 2017-12-04 criteria provided, single submitter provider interpretation This deletion was identified in a patient with a history of intellectual disability, autism spectrum disorder, and insomnia. A mitochondrial disorder has previously been suspected. The deletion includes a portion of the TTN and PLEKHA3 genes. PLEKHA3 has not been associated with a known condition at this time. TTN, however, is expressed in the skeletal and cardiac muscles and has been associated with several conditions including isolated cardiomyopathies, limb-girdle muscular dystrophy, proximal myopathy with early respiratory involvement, Salih myopathy, and Tibial muscular dystrophy. The deletion includes exons 229-313 of the TTN gene. This deletion includes the A and M bands of the protein and this particular deletion has not been reported previously. Deletions and loss of function variants in TTN that impact the A and M bands, such as the deletion found in this patient, are associated with isolated cardiomyopathies. 18-25% of dilated cardiomyopathies have been associated with such TTN variants. Deletions such as this have also been detected in healthy individuals (Herman et al. 2012). This could be due to reduced penetrance, however. The variant was also detected in the patient's mother who does not have a reported history of cardiomyopathy.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677986 SCV000804141 likely pathogenic not provided 2017-07-28 criteria provided, single submitter provider interpretation This 0.4 kilobase deletion was identified in a patient with autism spectrum disorder. The deletion includes exon 4 of the NRXN1 gene. Variants in the NRXN1 gene, including intragenic copy number variants, have been associated with variable neurodevelopmental diagnoses including autism spectrum disorders, intellectual disability, epilepsy, and schizophrenia. The features are variable from individual to individual. 2p16.3 deletions and variants in the NRXN1 gene have also been reported in healthy controls and unaffected parents of individuals with neuropsychiatric disorders indicating reduced penetrance or variable expressivity (Schaaf et al. 2012; Bena et al. 2013).
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677987 SCV000804142 uncertain significance not provided 2018-02-01 criteria provided, single submitter provider interpretation This 468 kilobase deletion was identified in a male with a history of mild intellectual disability and autism spectrum disorder. The deletion includes four genes, two of which (FANF and ANO5) are associated with a clinical disorder via autosomal recessive or dominant negative mechanisms.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677988 SCV000804143 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This deletion was identified in a patient with a history of developmental delay, learning disorder, articulation disorder, stereotypic movements, and ADHD. The deletion overlaps with the Williams-Beuren critical region but does not include the ELN gene. The effect of this deletion is unclear. The patient also carries a 22q11.21 duplication and both copy number variants were found to be paternally inherited.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677989 SCV000804144 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This 625 kilobase duplication was identified in an individual with a history autism and global developmental delay/intellectual disability. This duplication includes 15 genes, none of which are known to be triplosensitive at this time. This duplication was also identified in the patient's mother who reportedly has a history of speech and learning delays, asthma, and reflux.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677990 SCV000804145 uncertain significance not provided 2018-03-22 criteria provided, single submitter provider interpretation This 98 kilobase duplication was identified in a patient with a history of learning disability, large stature, and overgrowth. The duplication includes ANKRD11 and SPG7 genes. These genes are associated with autosomal dominant KBG syndrome and spastic paraplegia type 7, respectively, but the effect of a duplication involving these genes is unclear. Copy number variation in this region has been reported in the general population. The duplication was detected in the patient's mother who does not have a reported history of neurodevelopmental concerns and is of typical stature. Additional genetic testing, including whole exome sequencing, has been performed and has not yieled an explanation for the patient's phenotype.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677991 SCV000804146 uncertain significance not provided 2018-03-27 criteria provided, single submitter provider interpretation This duplication was identified in a 5 year old female with autism spectrum disorder and speech delay. The duplication was also found to be maternally inherited. Nonsense variants and deletions of SHOX have been reported in individuals with idiopathic short stature and Leri-Weill dyschondrosteosis (Huber et al. 2001; Niesler et al. 2002; Rappold et al. 2002). Partial or complete duplications of SHOX and/or its enhancer regions have also been reported in patients with these conditions (Thomas et al. 2009; Benito-Sanz et al. 2011). Tall stature has also been reported with duplications. This patient and her mother are of typical height. Whole exome sequencing also identified a variant of uncertain significance in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677992 SCV000804147 uncertain significance not provided 2018-03-27 criteria provided, single submitter provider interpretation This 421 kilobase duplication was identified in a female with a history of short stature, ADHD, developmental language disorder, and borderline delays in visual-motor/problem-solving adaptive skills. Similar duplications that involve the ARX gene have been reported in males in the literature. Two males had developmental delay and intellectual disability while two others had typical intelligence, causing the authors to postulate that another genetic varaint explained or contributed to the two patients' neurodevelopmental phenotype (Popoviel et al. 2014). A likely pathogenic 22q11.21 atypical deletion was also identified in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677993 SCV000804148 likely pathogenic not provided 2018-03-27 criteria provided, single submitter provider interpretation This 412 kilobase deletion was identified in an 11 year old patient with a history of intellectual disability, autism spectrum disorder, amblyopia, and congenital pes planus. Copy number variants of Xq28 have been associated with intellectual disability in males. Females in the literature have been reportedly asymptomatic due to skewed X-inactivation. X-inactivation studies for this patient demonstrated completely skewed X-inactivation (100:0). Similar deletions have been reported in the literature and are thought to be embryonic lethal in males (El-Hattab 2011; El-Hattab 2015). A likely benign 19p13.2 duplication was also identified, and parental testing indicated that the Xq28 deletion was maternally inherited. This patient's mother has a history of 3 miscarriages. Given the skewed X-inactivation in this patient, this deletion does not explain her neurodevelopmental phenotype. The deletion is likely associated with the mother's increased risk for miscarriage.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677994 SCV000804149 pathogenic not provided 2018-03-27 criteria provided, single submitter provider interpretation This 2.6 Mb deletion was identified in a 10 year old male with a history of autism spectrum disorder, intellectual disability, and ADHD. Overlapping deletions of 15q24.1q24.2 have been identified in individuals with developmental delay, intellectual disability, dysmorphic features, hypotonia, digital anomalies, joint laxity and genital anomalies (Mefford et al. 2012; El-Hattab et al 2009; Van Esch et al. 2009). In the literature, deletions were de novo in each case. Parental follow-up testing has not been completed for this family to date.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677995 SCV000804150 uncertain significance not provided 2018-03-27 criteria provided, single submitter provider interpretation This 1.6 Mb deletion was identified in a 16 year old male with a history of migraines, autism spectrum disoder, and anxiety. Maternal inheritance has been ruled out, but paternal testing has not been completed to date. A pathogenic 16p11.2 duplication was also identified in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677996 SCV000804151 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This 41 kilobase deletion was identified in a 15 year old with a history of mild intellectual disability, speech and language disorder, and ADHD. The deletion includes a portion of the TPRX1 gene and the entire CRX gene. Deletions and loss of function variants in CRX have been associated with Leber congenital amaurosis 7, cone-rod dystrophy 2, and late-onset retinitis pigmentosa. Aside from a history of strabismus, the patient does not have a history of vision concerns. This deletion was determined to be maternally inherited. The patient's mother does not have a reported history of vision concerns.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677997 SCV000804152 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This 156 kilobase duplication was identified in a 7 year old with a history of intellectual disability, autism spectrum disorder, pica, hyperkinesis, sleep disturbance, and polyuria. The duplication was found to be maternally inherited. The duplicated region includes a portion of the UPRT and ZDHHC15 genes. A loss of function variant in ZDHHC15 has been reported in an individual with intellectual disability (Manosouri et al. 2015), but the impact of a duplication of this variant is unclear.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677998 SCV000804153 pathogenic not provided 2018-04-03 criteria provided, single submitter provider interpretation This approximately 2.2 Mb deletion was identified in a 13 year old female with a history of autism spectrum disorder, intellectual disability, and disruptive behavior. The deleted region includes 4 genes, including FOXP2. Loss of function FOXP2 variants are associated with speech and language disorders (Watkins et al 2002; Laffin et al. 2012; Fedorenko et al. 2016). Parental testing has not been completed to date.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000677999 SCV000804154 uncertain significance not provided 2018-04-03 criteria provided, single submitter provider interpretation This 323 kilobase duplication was identified in a male with a history of obesity, acanthosis nigricans, mixed receptive-expressive language disorder, motor stereotypy. The duplication includes 15 genes, but none are known to be triplosensitive.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678000 SCV000804155 uncertain significance Mitochondrial complex I deficiency 2018-03-28 criteria provided, single submitter provider interpretation This deletion was identified in a 6 year old female with microcephaly, history of developmental delays, Duane's syndrome, and alopecia. Parental testing was not completed. This deletion includes 10 genes including, STRN3, CPR33, ARGHAP5, NUBPL, and APA4S1. NUBPL sequencing and del/dup was negative for any additional changes in this gene. Individuals with deletions of NUBPL are typically asymptomatic carriers for complex 1 defiencicy. The clinical significance of this deletion is unknown.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678001 SCV000804156 uncertain significance not provided 2018-03-28 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old female with global developmental delay, mild dysmorphic features, and esotropia. Parental testing was not completed. This deletion included a portion of the gene AUTS2. Additionally, a variant of uncertain significance in the LRRC7 gene was identified through whole exome sequencing. The clinical significance of this duplication remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678002 SCV000804157 uncertain significance not provided 2018-03-28 criteria provided, single submitter provider interpretation This duplication was identified in a 9 year old male with language disorder, mild intellectual disability, mild hypotonia, disruptive behavior, sleep problems, and a history of global developmental delay. Parental testing was not completed. This duplication includes ten genes, three of which are associated with known clinical disorders; LRRK2, CNTN1, and PRICKLE1. The clinical significance of this duplication remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678003 SCV000804158 uncertain significance not provided 2018-03-28 criteria provided, single submitter provider interpretation This duplication was identified in a 8 year old male with autism spectrum disorder, ADHD, and unspecified cognitive abilities. Parental testing was not completed. This duplication includes a portion of two genes, FSCN2 and RAAP100. The clinical consequences of a partial duplication of FSCN2 and FAAP100 remain unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678004 SCV000804159 uncertain significance Autistic disorder of childhood onset 2018-03-28 criteria provided, single submitter provider interpretation This deletion was identified in a 13 year old male with autism spectrum disorder, intellectual disability, bipolar disorder, conduct disorder, periventricular leukomalacia, and asthma. Parental testing was not completed. This deletion includes a portion of CNTN4. Disruptions of CNTN4 have been reported in individuals with autism spectrum disorders, individuals with 3p- syndrome, and unaffected parents. It is not clear whether this deletion is related to the patient's neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678005 SCV000804160 likely pathogenic Parkinson disease 2 2018-03-01 criteria provided, single submitter provider interpretation This deletion was identified in a 3 year old male with bilateral intra-abdominal testicle, hypertelorism, conductive hearing loss, exotropia, global developmental delay, echogenic kidneys, abnormality of gait, and hyperkinesis. Parental testing was not completed. This deletion includes a portion of PARK2. Individuals with deletions of PARK2 are typically asymptomatic carriers for juvenile onset Parkinson Disease. There is a maternal family history of Parkinson Disease that onset before 30 years of age. This deletion does not explain the findings in this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678006 SCV000804161 uncertain significance not provided 2018-03-28 criteria provided, single submitter provider interpretation This deletion was identified in a 18 year old female with autism spectrum disorder, ADHD, and epilepsy. Parental testing was not completed. This deletion includes a portion of TMEM132C and the entirity of TMEM132B, SLC15A4, and GLT1D1, none of which are associated with a known clinical disorder at present. The clinical significance of this deletion remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678007 SCV000804162 uncertain significance Epilepsy, focal, with speech disorder and with or without mental retardation 2018-03-28 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with macrocephaly, speech delay, autism spectrum disorder, large ears, and developmental delays, and was maternally inherited. Patient's mother has a history of anxiety, with a family history of depression, learning disabilities, and seizures. This duplication includes a portion of GRIN2A, which is associated with focal epilepsy and speech disorder with or without intellectual disability for heterozygous variants. However the clinical signifiance of this duplication is not known at this time. A maternally inherited variant of uncertain significance in the TB1X gene was also identified through whole exome sequencing.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678009 SCV000804164 uncertain significance not provided 2018-03-30 criteria provided, single submitter provider interpretation This duplication was identified in a 3 year old male with global developmental delays and a mixed receptive-expressive language disorder, and was found to be paternally inherited. Proband's father is reportedly unaffected, with no history of developmental delays. This duplication includes a portion of CBX7 and RPL3 genes, and the entirety of PDGFB. The clinical significance of a duplication of these genes is not currently known.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678010 SCV000804165 uncertain significance Autistic disorder of childhood onset 2018-03-30 criteria provided, single submitter provider interpretation This deletion was identified in a 7 year old male with developmental speech disorder, disruptive behavior disorder, hypermetropia, constipation, ADHD, dysmorphic features, and a history of failure to thrive. Parental testing was not completed. This deletion includes a portion of CNTN4 and is within the larger distal 3p deletion syndrome region. CNTN4 is a candidate gene for autism spectrum disorders. The clinical significance of this deletion remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678011 SCV000804166 uncertain significance Acrodysostosis 2, with or without hormone resistance 2018-03-30 criteria provided, single submitter provider interpretation This deletion was identified in a 10 year old male with autism spectrum disorder, macrocephaly, some hyperpigmented patches, some joint hypermobility, and anxiety. This deletion was also identified in the proband's twin brother who is similarly affected, but parental testing was not completed. This deletion includes three genes, including PDE4D , and is within the region for the much larger 5q12.1 deletion syndrome. The clinical significance of a deletion of these genes is not currently known.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678012 SCV000804167 likely pathogenic not provided 2018-03-30 criteria provided, single submitter provider interpretation This duplication was identified in a 11 year old male with intellectual disability, autism spectrum disorder, ADHD, and a seizure disorder. Parental testing was not completed. This duplication includes 18 OMIM genes and 31 other genes. Identical duplications have not been reported, though overlapping duplications have been noted in DECIPHER in individuals with autism, intellectual disability, seizures, and dysmorphic features. Due to the size of this duplication, it is likely the explanation for this patient's presentation.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678013 SCV000804168 pathogenic Breast-ovarian cancer, familial 1 2018-03-30 criteria provided, single submitter provider interpretation This deletion was identified in a 4 year old male with global developmental delays, macrocephaly, and craniosynostosis. Parental testing was not completed and there was a strong maternal family history of breast and ovarian cancer. This deletion includes BRCA2 and explains this family history, but is likely non-contributory to the proband's medical and developmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678014 SCV000804169 uncertain significance Leri Weill dyschondrosteosis 2018-03-30 criteria provided, single submitter provider interpretation This deletion was identified in a 7 year old male with autism spectrum disorder and mild intellectual disability. Parental testing was not completed. This deletion is within the pseudoautosomal region on the short arm terminus of both chromosome X and Y, and involves SHOX enhancers. Of note, this patient is of normal height. Similar deletions have been seen in patients with microcephaly, developmental delays, and/or speech delays. The clinical signifiance of this deletion is currently unclear.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678015 SCV000804170 pathogenic Mental retardation, autosomal recessive 7 2018-03-30 criteria provided, single submitter provider interpretation This homozygous deletion was identified in a 6 year old male with global developmental delays, short stature, chiari malformation type I, exotropia, and microcephaly. Microarray showed 5-6% homozygosity. Analysis of a maternal sample confirmed she is a heterozygous carrier for this deletion. This deletion includes at least exons 2-6 of TUSC3, which is associated with an autosomal recessive form of intellectual disability. This deletion explains the neurodevelopmental phenotype of this patient.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678016 SCV000804171 uncertain significance Pigmented nodular adrenocortical disease, primary, 2 2018-03-30 criteria provided, single submitter provider interpretation This duplication was identified in a 9 year old male with history of global developmental delay, unspecified intellectual disability, ADHD, and esotropia. This patient also has a 15q11.2 deletion that is a known recurrent deletion associated with neurodevelopmental phenotypes and is believed to be the cause of this patient's symptoms. Parental testing was not completed for either variant, though there is a maternal family history for the 15q11.2 deletion. This duplication involves a portion of PDE11A. The clinical significance of the duplication of a portion of this gene is unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678017 SCV000804172 uncertain significance not provided 2018-03-30 criteria provided, single submitter provider interpretation This deletion was identified in a 19 year old female with mild intellectual disability, ADHD, anxiety, and hyperphagia, and was found to be de novo. This patient has had normal whole exome sequencing. This deletion includes no genes that are associated with a known clinical phenotype at present. It is unclear at this time if this deletion is related to the patient's neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678018 SCV000804173 uncertain significance Witteveen-kolk syndrome 2018-03-30 criteria provided, single submitter provider interpretation This duplication was identified in a 12 year old male with autism spectrum disorder, dysmorphic features, ADHD, a patent foramen ovale, and intellectual disability. Parental testing was not completed. This duplication includes 10 genes, including SIN3A. This duplication is within the 15q24 region, and similar duplications have been reported in patients with a similar phenotype to the recurrent deletion. The clinical significance of this duplication remains unclear.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678019 SCV000804174 uncertain significance not provided 2018-03-30 criteria provided, single submitter provider interpretation This deletion was identified in a 8 year old male with autism spectrum disorder, ADHD, and obesity. Parental testing was not completed. This deletion contains the non-coding exon 1 of RBFOX1. Deletions within RBFOX1 have conflicting reports of clinical significance ranging from causing epilepsy and autism spectrum disorders to being normal variation. The clinical significance of the deletion of a portion of this gene is remains unclear.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678020 SCV000804175 uncertain significance not provided 2018-04-02 criteria provided, single submitter provider interpretation This deletion was identified in a 18 year old female with autism spectrum disorder, intellectual disability, disruptive behavior disorder, and irritability. Parental testing was not completed. This deletion includes a portion of HIPK2, which is not currently associated with any genetic disorders. This individual also has a maternally inherited 15p11.2 deletion that fits with the recurrent microdeletion syndrome. It is unclear at this time if this 7q34 deletion contributes to this patient's neurodevelopmental history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678021 SCV000804176 pathogenic not provided 2018-04-02 criteria provided, single submitter provider interpretation This deletion was identified in a 16 year old male with intellectual disability, seizure disorder, irritability, submucosal cleft palate, microcephaly, short stature, sleep disturbances, and Emery-Driefuss muscular dystrophy. Parental testing was not completed. This region contains at least 36 genes and was also identified on a karyotype. A 16p13.11 intragenic deletion of ABCC6 was also identified through array and a FHL1 likely pathogenic variant identified through a HCM gene panel. Due to its size, this deletion is believed to explain this patient's neurodevelopmental history in combination with his FHL1 mutation.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678022 SCV000804177 uncertain significance not provided 2018-04-12 criteria provided, single submitter provider interpretation This duplication was identified in a 5 year old male with microcephaly, dysmorphic features (large ears, close set eyes, pointed chin), behavioral concerns, pica, myopia, astigmatism, and was found to be maternally inherited. This patient's mother has a history of learning problems and a bicornuate uterus, and a family history of ADHD, special education needs, schizophrenia, depression, deafness, and substance abuse. This duplication includes 18 genes, including MYO9B, CPAMD8, and GTPBP3. The clinical significance of the duplication of these genes remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678023 SCV000804178 pathogenic Pitt-Hopkins-like syndrome 2 2018-04-12 criteria provided, single submitter provider interpretation This deletion was identified in a 17 year old male with autism spectrum disorder, intellectual disability, ADHD, aggression, constipation, and weight loss. Parental testing was not completed. This deletion includes a portion of NRXN1, and similar other deletions are have been reported in individuals with autism, intellectual disability, ADHD, schizophrenia, and/or seizures. Biallelic mutations in NRXN1 are associated with Pitt-Hopkins-like syndrome 2. Of note this patient does not have hyperbreathing, developmental regression, or facial dysmorphism. This deletion appears to explain the patient's medical history.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678024 SCV000804179 uncertain significance Deafness, autosomal dominant 56 2018-04-12 criteria provided, single submitter provider interpretation This duplication was identified in a 13 year old male with learning disabilities, ADHD, articulation disorder, and mild dysmorphic features, and was maternally inherited. The patient's mother has a history of depression, anxiety, and five first trimester miscarriages. This duplication includes the entirity of TNC and DEC1, and a portion of PAPPA and TNFSF8. There is no family history of hearing loss. The clinical significance of carrying three copies of these genes is unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678025 SCV000804180 uncertain significance Familial hypertrophic cardiomyopathy 16 2018-04-12 criteria provided, single submitter provider interpretation This duplication was identified in a 10 year old male with intellectual disability, macrocephaly, autism spectrum disorder, hyperkinesis, sleep disturbances, and hypodontia. Parental testing was not completed. This duplication includes the gene MYOZ2, which is associated with hypertrophic cardiomyopathy. There is one overlapping duplication reported in the literature that includes two additional genes in a patient with Cantu syndrome. The clinical significance of this duplication remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678026 SCV000804181 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-04-12 criteria provided, single submitter provider interpretation This duplication was identified in a 9 year old male with autism spectrum disorder, and a history of ADHD and developmental delays. Parental testing was not completed. This duplication includes two genes, KCTD3 and USH2A. Of note this patient is negative for hearing loss or retinitis pigmentosa. The clinical significance of this duplication remain unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678027 SCV000804182 uncertain significance Charcot-Marie-Tooth disease type 2K 2018-04-13 criteria provided, single submitter provider interpretation This deletion was identified in a 3 year old female with receptive-expressive language disorder, premature birth, hypotonia, poor feeding, posteriorly rotated ears, and up-slanting palpebral fissures, and is maternally inherited. This deletion includes six genes, including TMEM70, GDAP1, and JPH1. Individuals with single variants in TMEM70 are typically asymptomatic carriers for mitochondrial complex V deficiency. GADP1 and JPH1 have been described to cause an autosomal dominant Charcot-Marie-Tooth disease type 2K with muscle weakness and atrophy. Patient's mother reportedly has similar facial features and short stature, though no muscle concerns reported. The clinical significance of this deletion remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678028 SCV000804183 uncertain significance not provided 2018-04-13 criteria provided, single submitter provider interpretation This deletion was identified in a 7 year old female with short stature, macrocephaly, intellectual disability, global developmental delays, dysmorphic features (midface hypoplasia, high forehead, periorbital fullness, thick eyebrows, broad nasal root, low nasal bridge, up-turned nasal tip, short philtrum, full lips, wide mouth, pointed chin), decreased motor strength, joint hyperflexibility, increased lordosis, hyperextensible joints, flat feet, and was found to be maternally inherited. This patient's mother has anxiety, asthma, required learning supports, and had a heart murmur. Mother and maternal grandmother reportedly had a history of infertility. This deleted region contains three genes (RPS6KC1, VASH2, ANGEL2) that are not associated with any known clinical disorders. The clinical significance of this deletion remains unclear at this time. A second maternally-inherited variant was identified through chromosomal microarray, a 10q23.1 duplication of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678029 SCV000804184 uncertain significance not provided 2018-04-13 criteria provided, single submitter provider interpretation This duplication was identified in a 7 year old female with short stature, macrocephaly, intellectual disability, global developmental delays, midface hypoplasia, high forehead, periorbital fullness, thick eyebrows, broad nasal root, low nasal bridge, up-turned nasal tip, short philtrum, full lips, wide mouth, pointed chin, decreased motor strength, joint hyperflexibility, increased lordosis, hyperextensible joints, flat feet, and was found to be maternally inherited. This patient's mother has anxiety, asthma, required learning supports, and had a heart murmur. Mother and maternal grandmother reportedly had a history of infertility. This duplicated region contains six regions, including CDHR1, RGR, and a portion of CCSER2. The clinical significance of carrying three copies of these genes is unclear at this time. A second maternally inherited variant was identified through chromosomal microarray, a 1q32.3 deletion of uncertain significance.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678030 SCV000804185 uncertain significance not provided 2018-04-13 criteria provided, single submitter provider interpretation This duplication was identified in a 3 year old female with autism spectrum disorder, overgrowth, macrocephaly, fine motor delay and speech delay, and was maternally inherited. This patient's mother has average cognitive abilities and has anxiety, depression, and OCD. This duplication includes a portion of VCX3A and VCX2, and the entirety of HDHD1, STS, VCX, and PNPLA4. Identical duplications in this region have been reported with conflicting reported pathogenicity (benign-pathogenic) in individuals with features including developmental delay, seizures, autism spectrum disorder, and intellectual disability. The clinical significance of three copies of these genes remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678031 SCV000804186 uncertain significance not provided 2018-04-13 criteria provided, single submitter provider interpretation This deletion was identified in a 9 year old male with intellectual disability, gross motor delay, infantile benign external hydrocephaly, ADHD, overweight, and sleep difficulties, and was paternally inherited. This patient's father has bipolar and intellectual disability. This deletion includes ADARB2 and a portion of WDR37. Neither of these genes is associated with a known clinical disorder at present. Overlapping deletions have been seen in individuals with developmental delay or dysmorphic features, with some including the gene ZMYND11 that is known to cause intellectual disability. The clinical significance of this deletion remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678033 SCV000804188 uncertain significance not provided 2018-04-16 criteria provided, single submitter provider interpretation This duplication was identified in a 5 year old male with overgrowth, developmental regression, speech delay, autism spectrum disorder, with history of an EEG with paroxysmal discharges that were considered epileptiform, and a brain MRI that noted scattered foci of T2 hyperintensity in the cerebral white matter bilaterally. Parental testing was not completed. This duplication contains seven genes, including GCSH, and a portion of an eighth gene. The clinical significance of three copies of these genes remains unclear at this time.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678034 SCV000804189 pathogenic Spinocerebellar ataxia 15 2018-04-16 criteria provided, single submitter provider interpretation This deletion was identified in a 4 year old male with global developmental delays, seizures, hypermetropia of both eyes, amblyopia of right eye, hemangioma, dysmorphic features (triangular facies, broad forehead, prominent crus, almond shaped eyes, thick eyebrows, hypoplastic alae, prominent nasal tip, thin lips, narrow palate, pointed chin, decreased motor strength), partial agenesis of the corpus callosum, and prenatal exposure to cigarettes. Parental testing was not completed for the patient's father and the patient's mother tested negative. This deletion contains two genes SUMF1 and SETMAR, and a portion of ITPR1. Heterozygous carriers of SUMF1 variants are most often asymptomatic carriers for multiple sulfatase deficiency. Deletions of ITPF1 have been shown to cause spinocerebellar ataxia type 15. Microarray also identified a likely pathogenic duplication at 13q13.3.
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678035 SCV000804190 likely pathogenic not provided 2018-04-16 criteria provided, single submitter provider interpretation This duplication was identified in a 4 year old male with global developmental delays, seizures, hypermetropia of both eyes, amblyopia of right eye, hemangioma, dysmorphic features (triangular facies, broad forehead, prominent crus, almond shaped eyes, thick eyebrows, hypoplastic alae, prominent nasal tip, thin lips, narrow palate, pointed chin, decreased motor strength), partial agenesis of the corpus callosum, and prenatal exposure to cigarettes. Parental testing was not completed for the patient's father and the patient's mother tested negative. This duplication contains two genes, MIR17HG and GPC5, and a portion of GPC6. Similar duplications including MIR17HG and a portion of GPC5 have been reported in two individuals: one with postaxial polydactyly, overgrowth, autistic features, and dysmorphic features and was inherited from a similarly affected mother, and in a patient with developmental delay, autism spectrum disorder, short stature, macrocephaly, brachydactyly, clinodactyly, and dysmorphic features that was also identified in a parent and sibling with similar features. This duplication likely contributes to the phenotype of this patient. Microarray in our patient also identified a pathogenic deletion at 3q26.1, which is associated with spinocerebellar ataxia type 15.
Daryl Scott Lab,Baylor College of Medicine RCV000681464 SCV000808912 pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2017-09-12 criteria provided, single submitter clinical testing
Medical Genetics Lab,Policlinico S. Orsola.Malpighi RCV000681666 SCV000809058 uncertain significance Intellectual disability, mild 2018-09-27 criteria provided, single submitter clinical testing This is a homozygous deletion that involves only the BTBD9 gene, identified in a patient with mild intellectual disability, microcephaly, mild dismorphism. Parents are healthy, second-degree cousins of Italian origin, and are heterozygous carriers of the deletion. A healthy brother is also heterozygous. BTBD9 has not been currently associated to any monogenic disorder in humans, but it is expressed in brain and is a good candidate for neurodevelopmental disorders.
Undiagnosed Diseases Network,NIH RCV000708564 SCV000837681 pathogenic Combined oxidative phosphorylation deficiency 31 2017-08-14 criteria provided, single submitter clinical testing Our patient inherited a p.L162W variant from his father and a partial gene deletion of MIPEP (exons 7 and 8) from his mother. Our analysis identified a loss of copy number encompassing at least 6,956 bp (nucleotide 24,436,682 to 24,443,638) in the long arm of chromosome 13, involving exons 7 and 8 of the MIPEP gene. The signal pattern detected is consistent with a heterozygous deletion.
Undiagnosed Diseases Network,NIH RCV000708570 SCV000837689 pathogenic Cornelia de Lange syndrome 5 2018-03-16 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000708593 SCV000837720 likely pathogenic Combined oxidative phosphorylation deficiency 31 2018-01-04 criteria provided, single submitter clinical testing
Genetics - Viapath,Viapath, Guy's Hospital RCV000722071 SCV000845782 pathogenic Split-hand/foot malformation 2018-10-31 criteria provided, single submitter clinical testing Duplications of this region are associated with split hand/foot malformation 3.
Genetics - Viapath,Viapath, Guy's Hospital RCV000722072 SCV000845790 pathogenic Split-hand/foot malformation criteria provided, single submitter clinical testing Duplications of this region are associated with split hand/foot malformation 3.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730072 SCV000857783 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000735205 SCV000863411 uncertain significance Branched-chain keto acid dehydrogenase kinase deficiency 2018-03-16 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000735209 SCV000863416 likely pathogenic TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing A hemizygous c.233T>C (p.M78T) variant in the TAX1BP3 gene was detected in three brothers (14yo male, 20yo male, and male that died suddently at age 17) with similar symptoms. Exome sequencing showed that all three brothers are hemizygous, the mother is heterozygous, and the father is negative for this change. Concurrent array analysis revealed a heterozygous copy number loss of approximately 238 Kb in size (genomic position chr17:3394299- 3632836) in all three brothers. This large deletion encompasses the entire TAX1BP3 gene. SNP arrays detected this deletion as heterozygous in all three brothers and the father. The mother is negative for the deletion. Therefore, the 238 Kb deletion and the c.233T>C (p.M78T) variant are located on two chromosomes (in trans configuration). We believe the combination of the missense variant and deletion in trans is likely pathogenic.
Undiagnosed Diseases Network,NIH RCV000735211 SCV000863419 pathogenic Early infantile epileptic encephalopathy 4 2017-10-23 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000735214 SCV000863422 pathogenic Charcot-Marie-Tooth disease, type IA 2018-06-26 criteria provided, single submitter clinical testing 1.4Mb pathogenic copy number gain on chromosome 17 at 17p12. Detected by chromosomal microarray.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000735900 SCV000864012 pathogenic Trichorhinophalangeal dysplasia type I 2018-12-17 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000735901 SCV000864013 pathogenic Barakat syndrome 2018-12-17 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000735904 SCV000864016 uncertain significance Cerebellar ataxia, nonprogressive, with mental retardation 2018-12-17 criteria provided, single submitter research
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000735906 SCV000864018 uncertain significance Cerebellar ataxia, nonprogressive, with mental retardation 2018-12-17 criteria provided, single submitter research
Raymond Lab,University of Cambridge RCV000850220 SCV000897737 pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research
Department of Clinical Genetics,Tartu University Hospital RCV000768549 SCV000898485 pathogenic Dihydropteridine reductase deficiency 2019-04-20 criteria provided, single submitter research
Biochemistry Laboratory of CDMU,Chengde Medical University RCV000768460 SCV000899223 likely pathogenic not provided criteria provided, single submitter case-control
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852264 SCV000900011 likely pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852268 SCV000900013 likely pathogenic Reduced antithrombin III activity 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852266 SCV000900014 likely pathogenic Factor X deficiency 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852267 SCV000900015 likely pathogenic Abnormal bleeding 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852274 SCV000900016 uncertain significance Abnormal bleeding 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852258 SCV000900022 likely pathogenic 11q partial monosomy syndrome 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852260 SCV000900023 likely pathogenic Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852273 SCV000900024 pathogenic Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852269 SCV000900025 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852261 SCV000900027 likely pathogenic Reduced antithrombin III activity 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852271 SCV000900030 likely pathogenic Deep venous thrombosis 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852272 SCV000900031 likely pathogenic Reduced protein S activity 2019-02-01 criteria provided, single submitter research
Undiagnosed Diseases Network,NIH RCV000786772 SCV000924629 likely pathogenic 1p13.3 deletion syndrome 2019-06-06 criteria provided, single submitter clinical testing Both loss- and gain-of-function mutations in the KCNA2 gene cause early infantile epileptic encephalopathy-32 (EIEE-32; # 616366) (Allen, et al. Epilepsia. 2016 Jan;57(1):e12-7.). EIEE causes severe epilepsy with variable types of seizures, and neurological deficits, including intellectual disability, and delay of psychomotor and language development. Ataxia, tremor, and myoclonus have also been associated with EIEE. The onset of seizures has been reported to typically occur at less than five years of age and may remit later in childhood, however, one individual with a deletion involving all of the KCNA2 gene was reported to have onset of generalized tonic-clonic seizures at the age of 14 along with intellectual disability (Lal, et al. PLoS Genet. 2015 May 7;11(5):e1005226.) Within this deletion, two other genes, SLC25A24 and GNAI3 have been associated with autosomal dominant disorders. Mutations in SLC25A24 have been associated with Gorlin-Chaudhry-Moss syndrome and Fontaine progeroid syndrome (FPS, OMIM #612289), which have overlapping clinical features. Several studies suggest that the SLC25A24 mutations for these indiviudals induce a gain of function. Mutations of GNAI3 have been identified in patients with auriculocondylar syndrome-1 (ARCND1 or ACS, OMIM #602483), and it is thought that ACS is not caused by GNAI3 haploinsufficiency. For both of these disorders, whole gene deletions would not be expected to result in the same mechanism or clinical features of these disorders. Additionally, six genes are associated with autosomal recessive conditions, for which this deletion likely infers a carrier status. Chudley-McCullough syndrome (CMCS; #604213) is caused by homozygous or compound heterozygous mutation in the GPSM2 gene, while autosomal recessive mental retardation-60 (MRT60; # 617432) and autosomal recessive mental retardation-48 (MRT48; #616269) are caused by mutations in the TAF13 and SLC6A17 genes, respectively. Pontocerebellar hypoplasia type 9 (PCH9; #615809) is caused by mutations in both copies of the AMPD2 gene and frontonasal dysplasia-1 (FND1; OMIM #136760), are caused by mutations in both copies of the ALX3 gene.
Undiagnosed Diseases Network,NIH RCV000754630 SCV000930559 pathogenic Kilquist Syndrome 2019-01-01 criteria provided, single submitter clinical testing Homozygous deletion of SLC12A2 due to uniparental paternal isodisomy. Deletion from intron 1 to the beginning of exon 7 (chr5:127441491‐ 127471419) including an inversion of 34 base pairs (chr5:127441491‐127471419delins34). As a carrier, the father shows no symptoms of Kilquist syndrome. This family has been reported in PMID: 30740830.
Undiagnosed Diseases Network,NIH RCV000791288 SCV000930566 likely pathogenic Kleefstra syndrome 2 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000794161 SCV000933551 pathogenic Biotinidase deficiency 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg15Aspfs*55) in the BTD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTD-related conditions. Loss-of-function variants in BTD are known to be pathogenic (PMID: 20083419). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000807358 SCV000947406 uncertain significance Biotinidase deficiency 2018-10-24 criteria provided, single submitter clinical testing This variant, c.1176_1178delCAC, results in the deletion of 1 amino acid(s) of the BTD protein (p.Thr393del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTD-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000824954 SCV000965989 pathogenic Intellectual disability, severe 2016-01-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000824957 SCV000965998 pathogenic Marfan syndrome 2016-01-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000825024 SCV000966219 pathogenic Leptin receptor deficiency 2018-07-17 criteria provided, single submitter clinical testing Observed as a homozygote.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000825026 SCV000966221 pathogenic Chromosome 15q11-q13 duplication syndrome 2018-10-16 criteria provided, single submitter clinical testing
Academic Department of Medical Genetics, University of Cambridge RCV000850066 SCV000992232 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research
Academic Department of Medical Genetics, University of Cambridge RCV000850067 SCV000992233 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research
Academic Department of Medical Genetics, University of Cambridge RCV000850068 SCV000992234 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research
Academic Department of Medical Genetics, University of Cambridge RCV000850148 SCV000992321 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research
Academic Department of Medical Genetics, University of Cambridge RCV000850149 SCV000992322 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research
Academic Department of Medical Genetics, University of Cambridge RCV000850150 SCV000992323 pathogenic Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research Observed in an individual with phenotype specific for variants in one of the deted genes
UT Southwestern Medical Center, UT Southwestern Medical Center RCV000853070 SCV000992360 drug response Imatinib response 2019-09-09 criteria provided, single submitter clinical testing The variant in PDGRFB has been reported in a patient with multi focal infantile myofibromatosis (Hassan 2019) and was reported to be activating, tumorigenic in mice, and sensitive to imatinib in vitro. Review of this variant suggests a complicated deletion/duplication in which 13 nt are deleted from within exon 12 (breakpoints Chr 5: 149,505,080, Chr 5:149,505,067) and replaced by a duplicated portion of intron 14 and exon 15 (breakpoints intron 14-Chr 5: 149,502,780, exon 15-Chr 5:F2 149,502,629)
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850756 SCV000992989 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.4388A>G variant in MT-TQ gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000851017 SCV000993251 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.12153C>T variant in MT-TH gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000851027 SCV000993261 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.12175T>C variant in MT-TH gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000851053 SCV000993287 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.12236G>A variant in MT-TS2 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000851176 SCV000993410 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research
Invitae RCV000884662 SCV001028057 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Invitae RCV000906026 SCV001050642 benign not provided 2018-11-15 criteria provided, single submitter clinical testing
Invitae RCV000924704 SCV001070224 likely benign not provided 2019-01-15 criteria provided, single submitter clinical testing
Invitae RCV000929314 SCV001074942 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV000946500 SCV001092642 benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Invitae RCV000958490 SCV001105338 benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Invitae RCV000961049 SCV001108078 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV000967060 SCV001114430 benign not provided 2018-12-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992385 SCV001144614 benign not provided 2018-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993350 SCV001146238 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993351 SCV001146239 pathogenic not provided 2018-10-04 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. Moderate co-segregation with disease. However, available data lack unaffected family members.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996094 SCV001150564 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Endocrinology Clinic, Seth G.S. Medical College RCV000050247 SCV000082856 pathogenic Isolated growth hormone deficiency type 1B 2013-04-22 no assertion criteria provided case-control Converted during submission to Pathogenic.
ITMI RCV000122425 SCV000083976 not provided not specified 2013-09-19 no assertion provided reference population
ITMI RCV000122426 SCV000083977 not provided not specified 2013-09-19 no assertion provided reference population
ITMI RCV000122428 SCV000083979 not provided not specified 2013-09-19 no assertion provided reference population
ITMI RCV000122429 SCV000083980 not provided not specified 2013-09-19 no assertion provided reference population
ITMI RCV000122430 SCV000083981 not provided not specified 2013-09-19 no assertion provided reference population
ITMI RCV000119920 SCV000084050 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000111479 SCV000143921 uncertain significance Breast-ovarian cancer, familial 1 1997-09-04 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111480 SCV000143922 uncertain significance Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111482 SCV000143924 uncertain significance Breast-ovarian cancer, familial 1 2013-05-21 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111483 SCV000143925 pathogenic Breast-ovarian cancer, familial 1 2003-11-25 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111484 SCV000143926 pathogenic Breast-ovarian cancer, familial 1 2013-05-21 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111485 SCV000143927 uncertain significance Breast-ovarian cancer, familial 1 2000-01-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111486 SCV000143928 uncertain significance Breast-ovarian cancer, familial 1 1997-09-04 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111487 SCV000143929 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111491 SCV000143933 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000240951 SCV000165997 likely pathogenic Seizures; Intellectual disability no assertion criteria provided case-control
Center for Medical Genetics Ghent,University of Ghent RCV000240885 SCV000165998 likely pathogenic Seizures; Intellectual disability no assertion criteria provided case-control
University of British Columbia RCV000148350 SCV000172278 likely pathogenic Adams-Oliver syndrome 5 2014-07-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208726 SCV000172690 likely pathogenic Autism spectrum disorder; Epilepsy 2010-12-23 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208738 SCV000172691 uncertain significance Autism spectrum disorder; Epilepsy 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208716 SCV000172692 uncertain significance Autism spectrum disorder; Epilepsy 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208725 SCV000172693 likely pathogenic Autism spectrum disorder 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208737 SCV000172694 likely pathogenic Autism spectrum disorder 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208719 SCV000172695 likely pathogenic Autism spectrum disorder 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208728 SCV000172696 likely pathogenic Autism spectrum disorder 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208742 SCV000172697 likely pathogenic Autism spectrum disorder 2011-08-12 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208718 SCV000172698 pathogenic Autism spectrum disorder; Epilepsy 2011-08-12 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208731 SCV000172699 pathogenic Autism spectrum disorder 2011-08-12 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208741 SCV000172700 pathogenic Autism spectrum disorder; Epilepsy 2011-08-12 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208724 SCV000172701 uncertain significance Autism spectrum disorder; Epilepsy 2011-08-12 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208735 SCV000172702 uncertain significance Autism spectrum disorder; Epilepsy 2011-08-12 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208739 SCV000172703 uncertain significance Autism spectrum disorder 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208722 SCV000172704 uncertain significance Autism spectrum disorder 2012-01-01 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208734 SCV000172705 uncertain significance Autism spectrum disorder 2011-08-12 no assertion criteria provided research
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo RCV000208746 SCV000172706 uncertain significance Autism spectrum disorder; Epilepsy 2012-01-01 no assertion criteria provided research
Dept. of Medical Genetics, Telemark Hospital Trust RCV000170334 SCV000189426 uncertain significance Charcot-Marie-Tooth disease 2014-10-01 no assertion criteria provided research
Dept. of Medical Genetics, Telemark Hospital Trust RCV000170335 SCV000189427 likely pathogenic Charcot-Marie-Tooth disease 2014-10-01 no assertion criteria provided research
Dept. of Medical Genetics, Telemark Hospital Trust RCV000170336 SCV000189428 uncertain significance Charcot-Marie-Tooth disease 2014-10-01 no assertion criteria provided research
Department of Molecular Endocrinology,National Research Institute for Child Health and Development RCV000149431 SCV000190042 pathogenic Uniparental disomy, paternal, chromosome 14 2010-06-01 no assertion criteria provided clinical testing
Institute of Molecular and Cell Biology, University of Tartu RCV000161147 SCV000191104 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161148 SCV000191105 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161151 SCV000191108 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161152 SCV000191109 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161153 SCV000191110 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161154 SCV000191111 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161155 SCV000191112 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161156 SCV000191113 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161157 SCV000191114 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161158 SCV000191115 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161159 SCV000191116 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161160 SCV000191117 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161161 SCV000191118 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161163 SCV000191120 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161166 SCV000191123 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161167 SCV000191124 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161168 SCV000191125 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161169 SCV000191126 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161170 SCV000191127 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161171 SCV000191128 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161172 SCV000191129 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161173 SCV000191130 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161174 SCV000191131 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161175 SCV000191132 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161176 SCV000191133 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161177 SCV000191134 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161178 SCV000191135 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161179 SCV000191136 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161180 SCV000191137 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161181 SCV000191138 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161182 SCV000191139 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161183 SCV000191140 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161184 SCV000191141 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161185 SCV000191142 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161187 SCV000191144 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161188 SCV000191145 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161189 SCV000191146 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161190 SCV000191147 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161192 SCV000191149 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161193 SCV000191150 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161194 SCV000191151 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161197 SCV000191154 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161199 SCV000191156 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161200 SCV000191157 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161202 SCV000191159 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161203 SCV000191160 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161204 SCV000191161 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161205 SCV000191162 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161206 SCV000191163 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161207 SCV000191164 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161208 SCV000191165 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161209 SCV000191166 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161210 SCV000191167 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161212 SCV000191169 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161217 SCV000191174 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161218 SCV000191175 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161222 SCV000191179 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161223 SCV000191180 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161224 SCV000191181 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161225 SCV000191182 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161226 SCV000191183 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161227 SCV000191184 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161228 SCV000191185 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161229 SCV000191186 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161230 SCV000191187 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161232 SCV000191189 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161233 SCV000191190 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161234 SCV000191191 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161236 SCV000191193 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161237 SCV000191194 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161238 SCV000191195 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161239 SCV000191196 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161240 SCV000191197 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161241 SCV000191198 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161242 SCV000191199 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161243 SCV000191200 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161244 SCV000191201 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161245 SCV000191202 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161246 SCV000191203 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161248 SCV000191205 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161249 SCV000191206 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161250 SCV000191207 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161252 SCV000191209 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161253 SCV000191210 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161254 SCV000191211 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161255 SCV000191212 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161256 SCV000191213 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161261 SCV000191218 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161262 SCV000191219 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161263 SCV000191220 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161264 SCV000191221 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161265 SCV000191222 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161266 SCV000191223 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161267 SCV000191224 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161268 SCV000191225 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161269 SCV000191226 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161270 SCV000191227 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161271 SCV000191228 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161278 SCV000191235 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161279 SCV000191236 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161280 SCV000191237 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161281 SCV000191238 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161282 SCV000191239 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161283 SCV000191240 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161284 SCV000191241 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161285 SCV000191242 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161286 SCV000191243 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161287 SCV000191244 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161288 SCV000191245 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161289 SCV000191246 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161290 SCV000191247 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161291 SCV000191248 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161292 SCV000191249 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161293 SCV000191250 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161294 SCV000191251 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161298 SCV000191255 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161300 SCV000191257 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161301 SCV000191258 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161302 SCV000191259 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161303 SCV000191260 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161304 SCV000191261 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161305 SCV000191262 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161306 SCV000191263 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161307 SCV000191264 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161311 SCV000191268 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161312 SCV000191269 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161313 SCV000191270 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161314 SCV000191271 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161315 SCV000191272 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161316 SCV000191273 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161317 SCV000191274 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161318 SCV000191275 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161319 SCV000191276 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161320 SCV000191277 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161321 SCV000191278 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161327 SCV000191284 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161328 SCV000191285 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161329 SCV000191286 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161331 SCV000191288 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161332 SCV000191289 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161333 SCV000191290 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161334 SCV000191291 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161335 SCV000191292 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161336 SCV000191293 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161337 SCV000191294 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161339 SCV000191296 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161340 SCV000191297 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161341 SCV000191298 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161342 SCV000191299 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161343 SCV000191300 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161344 SCV000191301 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161345 SCV000191302 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161346 SCV000191303 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161347 SCV000191304 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161349 SCV000191306 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161352 SCV000191309 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161353 SCV000191310 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161354 SCV000191311 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161356 SCV000191313 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161358 SCV000191315 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161359 SCV000191316 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161360 SCV000191317 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161361 SCV000191318 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161362 SCV000191319 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161363 SCV000191320 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161364 SCV000191321 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161365 SCV000191322 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161366 SCV000191323 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161367 SCV000191324 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161368 SCV000191325 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161369 SCV000191326 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161370 SCV000191327 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161371 SCV000191328 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161372 SCV000191329 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161373 SCV000191330 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161374 SCV000191331 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161375 SCV000191332 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161376 SCV000191333 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161377 SCV000191334 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161378 SCV000191335 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161379 SCV000191336 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161380 SCV000191337 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161381 SCV000191338 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161382 SCV000191339 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161383 SCV000191340 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161384 SCV000191341 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161385 SCV000191342 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161386 SCV000191343 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161387 SCV000191344 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161388 SCV000191345 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161389 SCV000191346 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161390 SCV000191347 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161391 SCV000191348 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161392 SCV000191349 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161393 SCV000191350 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161394 SCV000191351 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161395 SCV000191352 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161396 SCV000191353 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161397 SCV000191354 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161400 SCV000191357 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161404 SCV000191361 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161405 SCV000191362 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161406 SCV000191363 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161407 SCV000191364 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161409 SCV000191366 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161410 SCV000191367 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161411 SCV000191368 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161412 SCV000191369 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161413 SCV000191370 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161414 SCV000191371 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161415 SCV000191372 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161416 SCV000191373 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161417 SCV000191374 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161418 SCV000191375 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161419 SCV000191376 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161420 SCV000191377 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161422 SCV000191379 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161423 SCV000191380 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161424 SCV000191381 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161425 SCV000191382 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161426 SCV000191383 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161427 SCV000191384 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161431 SCV000191388 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161432 SCV000191389 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161435 SCV000191392 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161436 SCV000191393 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161437 SCV000191394 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161438 SCV000191395 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161439 SCV000191396 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161440 SCV000191397 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161441 SCV000191398 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161442 SCV000191399 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161443 SCV000191400 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161444 SCV000191401 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161445 SCV000191402 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161446 SCV000191403 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161447 SCV000191404 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161448 SCV000191405 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161449 SCV000191406 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161450 SCV000191407 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161453 SCV000191410 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161454 SCV000191411 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161455 SCV000191412 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161456 SCV000191413 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161459 SCV000191416 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161460 SCV000191417 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161462 SCV000191419 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161463 SCV000191420 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161464 SCV000191421 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161465 SCV000191422 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161466 SCV000191423 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161467 SCV000191424 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161468 SCV000191425 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161469 SCV000191426 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161470 SCV000191427 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161472 SCV000191429 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161474 SCV000191431 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161475 SCV000191432 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161476 SCV000191433 not provided Large for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161477 SCV000191434 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161478 SCV000191435 not provided Gestational diabetes mellitus uncontrolled no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161479 SCV000191436 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161480 SCV000191437 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161481 SCV000191438 not provided Small for gestational age no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161482 SCV000191439 not provided Preeclampsia no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161484 SCV000191441 not provided Normal pregnancy no assertion provided case-control
Institute of Molecular and Cell Biology, University of Tartu RCV000161485 SCV000191442 not provided Large for gestational age no assertion provided case-control