ClinVar Miner

Variants studied for cone-rod dystrophy 2

Included ClinVar conditions (4):
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 not provided total
66 18 181 32 119 1 412

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRX 15 5 117 19 69 0 221
PRPH2 5 2 37 8 35 0 87
UNC119 1 0 18 5 15 0 38
ABCA4 10 3 0 0 0 1 14
PROM1 7 0 0 0 0 0 7
USH2A 4 1 2 0 0 0 7
CERKL 2 1 0 0 0 0 3
ACBD5 0 0 2 0 0 0 2
CABP4 0 2 0 0 0 0 2
CEP78 2 0 0 0 0 0 2
CLN3 2 0 0 0 0 0 2
NMNAT1 2 0 0 0 0 0 2
NR2E3 2 0 0 0 0 0 2
RPGRIP1 2 0 0 0 0 0 2
AIPL1 0 1 0 0 0 0 1
CACNA1F 0 0 1 0 0 0 1
CEP290 0 1 0 0 0 0 1
CERKL, ITGA4 1 0 0 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CRB1 1 0 0 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 1
FAM161A 1 0 0 0 0 0 1
GUCA1A, LOC118142757 1 0 0 0 0 0 1
GUCY2D 0 0 1 0 0 0 1
MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 1
PANK2 1 0 0 0 0 0 1
PCARE 1 0 0 0 0 0 1
PDE6B 1 0 0 0 0 0 1
POC1B 1 0 0 0 0 0 1
RHO 1 0 0 0 0 0 1
RPE65 0 0 1 0 0 0 1
RPGR 0 1 0 0 0 0 1
TTLL5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 107 23 113 0 243
Invitae 12 2 65 11 8 0 98
Molecular Genetics Laboratory,Institute for Ophthalmic Research 31 0 0 0 0 0 31
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 7 11 1 0 0 0 19
Human Genetics - Radboudumc,Radboudumc 6 0 5 0 0 0 11
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 4 1 4 0 0 0 9
OMIM 7 0 0 0 0 0 7
Laboratory of Genetics in Ophthalmology,Institut Imagine 3 0 0 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
Eye Genetics Research Group,Children's Medical Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1

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