ClinVar Miner

Variants studied for Retinitis pigmentosa

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
103 234 78 4 0 1 415

Gene and significance breakdown #

Total genes and gene combinations: 80
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
USH2A 16 41 19 1 0 75
EYS 10 30 10 1 0 51
RP1 6 14 3 0 0 23
RPGR 6 14 0 0 0 20
PDE6B 7 10 3 0 0 19
CNGB1 2 12 3 0 0 15
RHO 4 8 2 0 1 15
CNGA1, LOC101927157 2 5 3 0 0 10
ABCA4 4 5 0 0 0 9
PRPF31 0 8 0 0 0 8
CLN3 2 5 0 0 0 7
CRB1 3 4 0 0 0 7
IMPG2 1 4 2 0 0 7
MERTK 1 4 2 0 0 7
PCARE 2 2 3 0 0 7
AHI1 1 4 1 0 0 6
CERKL 1 2 3 0 0 6
PDE6A 1 4 1 0 0 6
RCBTB1 0 4 2 0 0 6
PRPH2 3 2 0 0 0 5
CRX 1 2 1 0 0 4
FAM161A 2 2 0 0 0 4
MAK 0 3 1 0 0 4
SNRNP200 2 2 0 0 0 4
CEP290 2 0 1 0 0 3
GPHN, RDH12, ZFYVE26 2 0 1 0 0 3
KLHL7 0 2 1 0 0 3
NRL 0 1 2 0 0 3
ROM1 1 1 1 0 0 3
TOPORS 3 0 0 0 0 3
TULP1 1 2 0 0 0 3
BBS1, ZDHHC24 0 2 0 0 0 2
BBS10 1 1 0 0 0 2
BEST1 1 1 0 0 0 2
CACNA1F 0 0 1 1 0 2
CDHR1 0 2 0 0 0 2
CFAP410 0 2 0 0 0 2
CLRN1 1 1 0 0 0 2
CNGB3 0 0 2 0 0 2
GPHN, RDH12 1 0 1 0 0 2
LOC102723833, USH2A 0 2 0 0 0 2
PHYH 0 2 0 0 0 2
PROM1 1 1 0 0 0 2
PRPF8 0 1 1 0 0 2
RBP3 0 0 2 0 0 2
RGR 0 0 2 0 0 2
RLBP1 0 2 0 0 0 2
RP1L1 0 2 0 0 0 2
RPE65 2 0 0 0 0 2
SLC24A1 2 0 0 0 0 2
VSX2 1 0 1 0 0 2
ARL6 0 1 0 0 0 1
BBS1 0 1 0 0 0 1
CA4 1 0 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, NEUROD1 0 1 0 0 0 1
COL18A1 0 1 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 1
CYGB, PRCD 1 0 0 0 0 1
CYP4V2 0 1 0 0 0 1
DHDDS 1 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 1
GUCA1A 0 1 0 0 0 1
GUCA1B 0 0 1 0 0 1
IDH3B 0 0 1 0 0 1
IFT140 1 0 0 0 0 1
IFT140, LOC105371046 0 1 0 0 0 1
IMPDH1 0 1 0 0 0 1
KIAA1549 0 0 0 1 0 1
LOC112806037, MERTK 0 1 0 0 0 1
LRAT 0 1 0 0 0 1
MFSD8 0 1 0 0 0 1
MYO7A 0 1 0 0 0 1
NR2E3 0 1 0 0 0 1
PANK2 1 0 0 0 0 1
POC5 0 0 1 0 0 1
PRPF6 0 1 0 0 0 1
RP2 0 1 0 0 0 1
RPGRIP1 0 1 0 0 0 1
SCAPER 1 0 0 0 0 1
TTLL5 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
NIHR Bioresource Rare Diseases,University of Cambridge 38 162 22 2 0 224
Department of Ophthalmology and Visual Sciences Kyoto University 34 57 0 0 0 91
Illumina Clinical Services Laboratory,Illumina 5 6 45 0 0 56
Human Genetics - Radboudumc,Radboudumc 10 1 7 0 0 18
Genetics Research Center,University of Social Welfare and Rehabilitation Sciences 8 0 0 0 0 8
Center for Medical Genetics Ghent,University of Ghent 0 4 2 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 0 0 4
Rui Chen Lab,Baylor College of Medicine 2 0 0 2 0 4
GeneReviews 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Personalis, Inc. 1 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 1
Centro de Genética y Biología Molecular,Universidad de San Martín de Porres 1 0 0 0 0 1
Rappaport Faculty of Medicine,Technion-Israel Institute of Technology 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 0 1 0 0 1

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