ClinVar Miner

Variants studied for cone-rod dystrophy

Included ClinVar conditions (54):
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
554 193 2199 1341 574 16 4714

Gene and significance breakdown #

Total genes and gene combinations: 94
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GUCY2D 102 23 453 608 37 1 1213
RPGRIP1 94 20 448 281 39 2 842
AIPL1 50 15 230 192 39 7 488
CRX 50 13 209 87 72 0 418
CACNA2D4 4 3 106 22 66 1 194
CDHR1 12 7 127 11 11 0 163
PITPNM3 1 0 82 21 57 0 154
PROM1 18 11 56 25 38 1 142
ABCA4 64 35 28 1 20 3 141
RIMS1 0 1 68 21 51 0 141
PRPH2 5 2 37 8 35 0 87
SEMA4A 2 0 68 10 8 0 84
ADAM9 8 2 51 8 5 0 74
CFAP418 7 1 46 10 10 0 73
RAX2 3 0 38 5 25 0 71
RLBP1 3 1 33 7 12 0 56
RPGR 21 15 6 5 5 0 50
GUCA1A, GUCA1ANB-GUCA1A 8 7 22 3 2 0 40
UNC119 1 0 12 4 14 0 31
CACNA1F 14 2 4 4 5 0 28
TTLL5 10 2 0 0 3 1 16
CFAP418, LOC130000784 2 0 11 1 1 0 15
DRAM2 6 3 1 0 2 0 12
ABCA4, LOC126805793 5 1 4 0 2 0 11
POC1B 7 0 2 0 2 0 11
GUCA1A, LOC118142757 1 5 3 0 0 0 9
USH2A 4 1 4 0 0 0 9
CIMIP3, GUCA1A, GUCA1ANB-GUCA1A 0 0 6 0 2 0 8
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 1 1 5 1 0 8
LOC130060555, UNC119 1 0 6 1 1 0 8
RAB28 4 4 1 0 0 0 8
OPN1LW 4 0 1 0 2 0 7
CEP78 4 0 0 0 0 0 4
CNGA3 1 3 0 0 0 0 4
CRB1 1 1 2 0 0 0 4
PBX3 0 3 1 0 0 0 4
ABCA4, LOC126805794 2 1 1 0 0 0 3
ADAM9, LOC130000261 1 0 1 0 1 0 3
CABP4 1 2 0 0 0 0 3
CERKL 2 1 0 0 0 0 3
GPHN, RDH12 2 1 0 0 0 0 3
GUCA1A, GUCA1ANB, GUCA1ANB-GUCA1A 0 0 3 0 0 0 3
RPE65 0 0 3 0 0 0 3
ACBD5 0 0 2 0 0 0 2
CDHR1, LOC130004216 0 0 1 1 0 0 2
CFAP410 0 1 1 0 0 0 2
CLN3 2 0 0 0 0 0 2
KCNV2 0 0 1 0 1 0 2
LOC105369889, POC1B 0 1 1 0 0 0 2
LOC129996707, RIMS1 0 0 1 0 1 0 2
LOC130060086, PITPNM3 0 0 1 0 1 0 2
NMNAT1 2 0 0 0 0 0 2
NR2E3 2 0 0 0 0 0 2
OPN1MW 2 0 0 0 0 0 2
PCARE 2 0 0 0 0 0 2
PIMREG, PITPNM3 0 0 1 0 1 0 2
RHO 1 0 1 0 0 0 2
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
AIPL1, PIMREG, PITPNM3 0 0 1 0 0 0 1
ALMS1 1 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, CNTROB, GUCY2D 0 0 1 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, GUCY2D, HES7, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1 0 0 1 0 0 0 1
ARL6 0 0 1 0 0 0 1
BEST1 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
C16orf92, TLCD3B 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
CHD8, HNRNPC, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 0 0 1 0 0 0 1
CHD8, METTL3, RAB2B, RPGRIP1, SALL2, SUPT16H, TOX4 1 0 0 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CRLF1 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 0 0 1 0 1
FAM161A 1 0 0 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
LOC125467793, OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 0 1
LOC129996708, RIMS1 0 0 1 0 0 0 1
LOC130008356, POC1B, POC1B-GALNT4 0 1 0 0 0 0 1
LOC130060085, PITPNM3 0 0 0 0 1 0 1
LOC130068202, RP2 1 0 0 0 0 0 1
MFSD8 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
PDE6H 0 0 1 0 0 0 1
RBP3 1 0 0 0 0 0 1
SSBP1 1 0 0 0 0 0 1
TLCD3B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 267 43 1165 1134 119 0 2728
Illumina Laboratory Services, Illumina 0 0 875 166 409 0 1450
Genome-Nilou Lab 16 3 63 29 75 0 186
Fulgent Genetics, Fulgent Genetics 37 14 71 21 17 0 160
OMIM 106 0 1 0 0 0 107
Molecular Genetics Laboratory, Institute for Ophthalmic Research 32 0 4 0 0 0 36
Sharon lab, Hadassah-Hebrew University Medical Center 26 9 0 0 0 0 35
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 19 8 4 0 0 0 31
Mendelics 9 3 10 0 5 0 27
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 13 4 0 0 0 23
Laboratory of Genetics in Ophthalmology, Institut Imagine 20 2 1 0 0 0 23
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 6 9 0 0 0 21
3billion 6 10 5 0 0 0 21
Institute of Human Genetics, University of Leipzig Medical Center 11 4 5 0 0 0 20
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 7 11 1 0 0 0 19
DBGen Ocular Genomics 6 4 9 0 0 0 19
Baylor Genetics 6 4 8 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 11 1 1 0 18
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 0 6 0 0 0 16
SIB Swiss Institute of Bioinformatics 2 10 4 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 6 2 0 0 15
Institute of Medical Molecular Genetics, University of Zurich 1 12 0 0 0 0 13
Genetic Eye Disease Investigation Unit, University of Auckland 4 7 2 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 3 3 5 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 8 1 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 3 0 0 0 10
Revvity Omics, Revvity 4 4 1 0 0 0 9
MGZ Medical Genetics Center 4 4 1 0 0 0 9
GeneReviews 0 0 0 0 0 9 9
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 4 1 4 0 0 0 9
Genomics England Pilot Project, Genomics England 7 2 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 0 0 0 0 0 7
Ocular Genomics Institute, Massachusetts Eye and Ear 1 4 1 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 6 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 2 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 1 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 2 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 0 1 1 0 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 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
Noruzinia Laboratory, Tarbiat Modares University 0 0 1 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 1
Edmonton Ocular Genetics, Alberta Health Services 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Department of Ophthalmology, California Pacific Medical Center 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1

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