ClinVar Miner

Variants studied for cerebral disease with cataract

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
739 293 1751 790 212 3535

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 198 46 387 273 43 887
NSD1 257 67 187 36 4 534
RPGRIP1L 78 19 252 147 28 494
CC2D2A 48 41 290 92 27 448
MKS1 36 38 168 97 11 316
TMEM67 25 36 91 23 14 165
NPHP3, NPHP3-ACAD11 7 1 91 11 5 115
TCTN2 9 4 72 15 19 105
SIL1 14 2 48 14 13 84
TMEM231 8 2 32 21 10 71
TMEM216 5 13 38 4 5 61
TCTN1 4 1 21 22 8 56
NFIX 18 9 9 10 2 48
B9D1 3 1 25 9 7 40
C12orf29, CEP290 12 1 19 6 1 38
B9D2 4 2 3 2 5 16
ATP6V0A2, TCTN2 0 0 1 5 6 10
APC2 1 0 7 0 0 8
KIF14 2 1 5 0 0 8
CTDP1 1 0 0 1 4 6
TMEM107 3 0 0 0 0 3
TXNDC15 1 2 0 0 0 3
TMEM218 2 0 0 0 0 2
ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LMAN2, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 0 0 1
C12orf29, C12orf50, CEP290, KITLG, TMTC3 1 0 0 0 0 1
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 0 1
CCDC172 0 0 1 0 0 1
CEP295 0 0 1 0 0 1
CSPP1 0 1 0 0 0 1
DUOX2 0 0 0 1 0 1
EVC2 0 1 0 0 0 1
EXOC3L2 0 1 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 1
FAM166B 0 0 1 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
KIAA0586 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 1
TMEM138 0 1 0 0 0 1
TMEM237 0 1 0 0 0 1
TTC6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 490 94 1016 718 172 2490
Illumina Clinical Services Laboratory,Illumina 1 2 680 59 68 809
Genetic Services Laboratory, University of Chicago 160 32 31 0 0 223
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 83
Fulgent Genetics,Fulgent Genetics 20 5 47 0 0 72
Counsyl 1 31 33 5 0 70
OMIM 67 0 0 0 0 67
Baylor Genetics 18 2 34 0 0 54
Natera, Inc. 3 1 25 6 5 40
Center for Human Genetics, Inc,Center for Human Genetics, Inc 4 5 6 5 1 21
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 4 13 4 0 0 21
Mendelics 7 2 3 1 3 16
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 2 5 1 0 13
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 6 7 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 3 1 8 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 10 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 5 1 0 8
Kasturba Medical College, Manipal University 2 6 0 0 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 6 7
Institute of Human Genetics, Klinikum rechts der Isar 5 1 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 2 1 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 5 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 2 4 0 0 0 6
Clinical Genetics laboratory, University of Goettingen 0 3 0 1 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 0 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 1 2 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 2 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 2 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 2
UW Hindbrain Malformation Research Program,University of Washington 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 1 1 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Molecular Genetics Laboratory Heidelberg, Heidelberg University 1 0 0 0 0 1

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