ClinVar Miner

Variants studied for congenital nystagmus

Included ClinVar conditions (40):
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
43 21 31 5 12 112

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
FRMD7 13 1 23 5 12 54
GPR143 4 1 1 0 0 6
TMEM67 1 3 0 0 0 4
​intergenic 0 0 3 0 0 3
CASK 0 2 0 0 0 2
CEP290 2 0 0 0 0 2
GALC 0 2 0 0 0 2
GNB1 2 0 0 0 0 2
GUCY2D 0 1 1 0 0 2
HARS1 2 0 0 0 0 2
MKS1 2 0 0 0 0 2
NDUFA13 2 0 0 0 0 2
RUBCN 2 0 0 0 0 2
SGSH 2 0 0 0 0 2
TYR 2 0 0 0 0 2
BCORL1 0 0 1 0 0 1
CLUH, METTL16, PAFAH1B1, RAP1GAP2 1 0 0 0 0 1
CNGB3 1 0 0 0 0 1
COL18A1 0 1 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 1
COQ8A 0 1 0 0 0 1
ELP4, PAX6 0 1 0 0 0 1
FRMD7, GPC3, GPC4, HS6ST2, IGSF1, MBNL3, OR13H1, RAP2C, STK26, TFDP3, USP26 1 0 0 0 0 1
INPP4A 0 1 0 0 0 1
KCNV2 1 0 0 0 0 1
KIF7 0 1 0 0 0 1
MIP 0 0 1 0 0 1
MYO5A 1 0 0 0 0 1
NDP 0 1 0 0 0 1
NMNAT1 0 1 0 0 0 1
OPHN1 0 1 0 0 0 1
OTX2 0 1 0 0 0 1
RHO 1 0 0 0 0 1
RPE65 1 0 0 0 0 1
SETX 0 1 0 0 0 1
SIX6 1 0 0 0 0 1
TBC1D24 0 0 1 0 0 1
TFAP2A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 23 5 12 40
Centre for Mendelian Genomics,University Medical Centre Ljubljana 11 15 2 0 0 28
OMIM 15 0 0 0 0 15
NIHR Bioresource Rare Diseases, University of Cambridge 3 1 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 3 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 2
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 2 0 0 0 0 2
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 2 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit,IRCCS Fondazione Stella Maris 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Mutsuddi Laboratory, Department of Molecular and Human Genetics,Banaras Hindu University 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Leeds Institute of Medical Research,University of Leeds 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 1

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