ClinVar Miner

Variants studied for congenital nystagmus

Included ClinVar conditions (32):
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
35 18 5 0 0 58

Gene and significance breakdown #

Total genes and gene combinations: 29
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
FRMD7 13 0 0 13
GPR143 4 1 0 5
TMEM67 1 3 0 4
​intergenic 0 0 3 3
CASK 0 2 0 2
CEP290 2 0 0 2
GALC 0 2 0 2
GNB1 2 0 0 2
GUCY2D 0 1 1 2
MKS1 2 0 0 2
RUBCN 2 0 0 2
TYR 2 0 0 2
BCORL1 0 0 1 1
CLUH, METTL16, PAFAH1B1, RAP1GAP2 1 0 0 1
CNGB3 1 0 0 1
COL18A1 0 1 0 1
COL18A1, SLC19A1 0 1 0 1
COQ8A 0 1 0 1
ELP4, PAX6 0 1 0 1
FRMD7, GPC3, GPC4, HS6ST2, IGSF1, MBNL3, OR13H1, RAP2C, STK26, TFDP3, USP26 1 0 0 1
KIF7 0 1 0 1
MYO5A 1 0 0 1
NDP 0 1 0 1
OPHN1 0 1 0 1
OTX2 0 1 0 1
RHO 1 0 0 1
SETX 0 1 0 1
SIX6 1 0 0 1
TFAP2A 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 11 15 1 27
OMIM 15 0 0 15
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 3
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 3 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 2
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 2 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 1
Mutsuddi Laboratory, Department of Molecular and Human Genetics,Banaras Hindu University 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 1
Leeds Institute of Medical Research,University of Leeds 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.