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
506 224 1338 358 227 2453

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 122 35 292 85 43 523
NSD1 183 38 95 56 19 386
RPGRIP1L 47 10 196 46 28 301
CC2D2A 31 35 209 32 27 295
MKS1 26 32 131 43 11 217
TMEM67 19 36 83 10 14 141
NPHP3, NPHP3-ACAD11 4 1 88 11 5 109
TCTN2 8 1 65 9 19 91
SIL1 11 2 39 12 13 73
TMEM216 5 13 38 4 5 61
TMEM231 7 1 18 15 10 49
NFIX 15 6 6 6 2 35
TCTN1 4 1 8 12 8 33
B9D1 3 1 20 6 7 32
B9D2 4 2 17 3 5 30
C12orf29, CEP290 7 1 16 2 1 27
ATP6V0A2, TCTN2 0 0 1 5 6 10
B9D2, TMEM91 0 0 8 0 0 8
CTDP1 1 0 0 0 4 5
KIF14 2 0 2 0 0 4
TMEM107 3 0 0 0 0 3
TXNDC15 1 2 0 0 0 3
APC2 1 0 1 0 0 2
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
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: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 252 41 569 242 172 1276
Illumina Clinical Services Laboratory,Illumina 1 1 741 106 84 932
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
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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 10 10
Baylor Genetics 7 0 2 0 0 9
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
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
Institute of Human Genetics,Klinikum rechts der Isar 5 0 0 0 0 5
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
Integrated Genetics/Laboratory Corporation of America 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 0 1 0 1
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
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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
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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 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

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