ClinVar Miner

Variants studied for CRX-related retinopathy

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:

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
218 67 315 136 128 3 808

Gene and significance breakdown #

Total genes and gene combinations: 86
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRX 105 24 218 119 72 2 483
PRPH2 5 2 37 8 35 0 87
UNC119 0 0 12 4 14 0 30
ABCA4 17 5 4 0 0 1 27
PROM1 14 2 2 0 0 0 17
USH2A 4 1 4 0 0 0 9
CACNA1F 5 1 1 0 0 0 7
CRB1 2 3 2 0 0 0 7
LOC130060555, UNC119 0 0 5 1 1 0 7
GUCY2D 1 3 1 0 0 0 5
TTLL5 4 1 0 0 0 0 5
ABCA4, LOC126805793 2 2 0 0 0 0 4
ADAM9 4 0 0 0 0 0 4
CDHR1 2 2 0 0 0 0 4
CEP78 4 0 0 0 0 0 4
CERKL 3 1 0 0 0 0 4
CNGA3 1 3 0 0 0 0 4
GPHN, RDH12 3 1 0 0 0 0 4
NMNAT1 2 2 0 0 0 0 4
ABCA4, LOC126805794 2 1 0 0 0 0 3
CABP4 1 2 0 0 0 0 3
EYS 1 0 2 0 0 0 3
RPGRIP1 3 0 0 0 0 0 3
ACBD5 0 0 2 0 0 0 2
C10orf105, CDH23 0 0 1 1 0 0 2
CDH23 0 0 1 1 0 0 2
CFAP410 0 1 1 0 0 0 2
CLN3 2 0 0 0 0 0 2
ERCC6 0 0 0 0 2 0 2
GUCA1A, GUCA1ANB-GUCA1A 1 1 0 0 0 0 2
KCNV2 2 0 0 0 0 0 2
MERTK 0 0 2 0 0 0 2
MFSD8 0 1 1 0 0 0 2
MYO7A 0 0 2 0 0 0 2
NR2E3 2 0 0 0 0 0 2
PCARE 2 0 0 0 0 0 2
RAB28 1 1 0 0 0 0 2
RPGR 1 1 0 0 0 0 2
SETX 0 0 0 2 0 0 2
SGSH 2 0 0 0 0 0 2
ADAM9, LOC130000261 1 0 0 0 0 0 1
AIPL1 0 1 0 0 0 0 1
ALMS1 1 0 0 0 0 0 1
ARL6 0 0 1 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541 0 0 1 0 0 0 1
CACNA2D4 1 0 0 0 0 0 1
CEP290 0 1 0 0 0 0 1
CERKL, ITGA4 1 0 0 0 0 0 1
CERKL, LOC129935214 1 0 0 0 0 0 1
CFAP410, LOC130066823 1 0 0 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2 0 0 1 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 1
CRX, TPRX2 0 0 1 0 1 0 1
CUX2 0 0 1 0 0 0 1
DRAM2 0 1 0 0 0 0 1
EYS, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132089426, LOC132089427, LOC132089428, LOC132089429, LOC132090758, LOC132090759, LOC132205963, LOC132205964 0 0 1 0 0 0 1
FAM161A 1 0 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 0 0 0 0 0 1
IFT81 0 1 0 0 0 0 1
IMPG1 0 0 1 0 0 0 1
IMPG2 1 0 0 0 0 0 1
LOC125384566, LOC130065345, LOC130065346, LOC130065347, MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 1
LOC130068202, RP2 1 0 0 0 0 0 1
MECP2 0 0 1 0 0 0 1
NLGN3 0 0 0 0 1 0 1
OCA2 0 0 1 0 0 0 1
OPA1 0 0 1 0 0 0 1
PANK2 1 0 0 0 0 0 1
PDE6B 1 0 0 0 0 0 1
POC1B, POC1B-DUSP6 1 0 0 0 0 0 1
PRPF31 1 0 0 0 0 0 1
RAD21 0 0 1 0 0 0 1
RBP3 1 0 0 0 0 0 1
RHO 1 0 0 0 0 0 1
RP1 1 0 0 0 0 0 1
RP1L1 0 0 1 0 0 0 1
RPE65 0 0 1 0 0 0 1
SCLT1 0 0 1 0 0 0 1
SEMA4A 0 0 0 0 1 0 1
SNRNP200 0 0 1 0 0 0 1
SSBP1 1 0 0 0 0 0 1
TRPM1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 85 10 142 93 14 0 344
Illumina Laboratory Services, Illumina 0 0 127 41 113 0 242
Sharon lab, Hadassah-Hebrew University Medical Center 26 9 0 0 0 0 35
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 5 3 17 4 5 0 34
Molecular Genetics Laboratory, Institute for Ophthalmic Research 30 0 1 0 0 0 31
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 19 8 4 0 0 0 31
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 13 9 6 0 0 0 28
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 7 11 1 0 0 0 19
Laboratory of Genetics in Ophthalmology, Institut Imagine 15 0 0 0 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 0 5 0 0 0 11
3billion 3 6 1 0 0 0 10
OMIM 10 0 0 0 0 0 10
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 4 1 4 0 0 0 9
DBGen Ocular Genomics 2 1 3 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Mendelics 2 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 1 1 0 0 0 0 2
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1

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