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
331 438 150 9 3 2 904

Gene and significance breakdown #

Total genes and gene combinations: 118
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
USH2A 24 73 30 1 0 0 122
EYS 33 36 13 1 0 0 76
RPGR 33 26 1 2 0 0 62
RP1 16 22 7 0 0 0 44
RHO 12 19 2 0 0 1 33
PRPF31 12 19 1 0 0 0 32
PDE6B 13 13 5 0 2 0 31
CNGB1 8 17 7 1 0 0 30
CRB1 9 15 2 0 0 0 26
ABCA4 11 13 0 0 0 0 23
PDE6A 12 11 1 0 1 0 23
PRPH2 6 10 4 0 0 0 20
CNGA1, LOC101927157 5 9 4 0 0 1 19
PCARE 7 3 5 0 0 0 15
EYS, PHF3 6 6 2 0 0 0 14
RP2 8 6 0 0 0 0 14
NR2E3 4 8 0 0 0 0 12
IMPG2 3 5 3 0 0 0 11
MERTK 1 8 2 0 0 0 11
CERKL 4 4 3 0 0 0 10
FAM161A 5 4 0 0 0 0 9
GPHN, RDH12 4 4 1 0 0 0 9
LOC102723833, USH2A 1 6 2 0 0 0 9
SNRNP200 3 6 0 1 0 0 9
AHI1 3 4 1 0 0 0 8
CRX 1 3 4 0 0 0 8
GPHN, RDH12, ZFYVE26 4 2 2 0 0 0 8
MAK 3 5 1 0 0 0 8
BBS2 5 2 0 0 0 0 7
CEP290 4 0 3 0 0 0 7
CLN3 2 5 0 0 0 0 7
PROM1 2 3 2 0 0 0 7
RPE65 5 1 1 0 0 0 7
TULP1 2 3 2 0 0 0 7
MYO7A 1 2 3 0 0 0 6
RCBTB1 0 4 2 0 0 0 6
TOPORS 4 1 1 0 0 0 6
IMPDH1 0 4 1 0 0 0 5
PRPF8 1 2 2 0 0 0 5
RPGRIP1 3 2 0 0 0 0 5
BBS1, ZDHHC24 1 3 1 0 0 0 4
BEST1 2 1 1 0 0 0 4
CDH23 1 2 1 0 0 0 4
CDHR1 3 2 0 0 0 0 4
KLHL7 0 3 1 0 0 0 4
NRL 1 1 2 0 0 0 4
RGR 0 1 3 0 0 0 4
RLBP1 1 3 0 0 0 0 4
CACNA1F 0 1 1 1 0 0 3
CFAP410 1 2 0 0 0 0 3
CLRN1 1 2 0 0 0 0 3
CNGB3 1 0 2 0 0 0 3
GNAT1 2 0 1 0 0 0 3
PITPNM3 0 0 2 1 0 0 3
ROM1 1 1 1 0 0 0 3
ADGRV1 0 2 0 0 0 0 2
AIPL1 1 1 0 0 0 0 2
ARL2BP 2 0 0 0 0 0 2
BBS10 1 1 0 0 0 0 2
BBS12 0 2 0 0 0 0 2
C8orf37 1 1 0 0 0 0 2
CDH3 0 2 0 0 0 0 2
CHM 1 1 0 0 0 0 2
CYGB, PRCD 2 0 0 0 0 0 2
DHDDS 1 1 0 0 0 0 2
GPR179 0 0 2 0 0 0 2
HGSNAT 2 0 0 0 0 0 2
IDH3A 2 0 0 0 0 0 2
IFT140, LOC105371046 1 1 0 0 0 0 2
IQCB1 0 2 0 0 0 0 2
LRAT 0 2 0 0 0 0 2
PHYH 0 2 0 0 0 0 2
PRPF6 1 1 0 0 0 0 2
RBP3 0 0 2 0 0 0 2
RP1L1 0 2 0 0 0 0 2
SLC24A1 2 0 0 0 0 0 2
TRPM1 0 0 2 0 0 0 2
TTC8 0 0 2 0 0 0 2
TTLL5 2 0 0 0 0 0 2
USH1C 2 0 0 0 0 0 2
VSX2 1 0 1 0 0 0 2
ADAM9 1 0 0 0 0 0 1
ADGRA3 0 1 0 0 0 0 1
AGBL5 1 0 0 0 0 0 1
ALMS1 0 1 0 0 0 0 1
ARL6 0 1 0 0 0 0 1
BBS1 1 1 0 0 0 0 1
BBS7 0 1 0 0 0 0 1
BBS9 0 1 0 0 0 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 0 1
CA4 1 0 0 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, NEUROD1 0 1 0 0 0 0 1
CNNM4 0 0 1 0 0 0 1
COL18A1 0 1 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 1
CYP4V2 0 1 0 0 0 0 1
DHX38 0 1 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 0 1
GUCA1A 0 1 0 0 0 0 1
GUCA1B 0 0 1 0 0 0 1
IDH3B 0 0 1 0 0 0 1
IFT140 1 0 0 0 0 0 1
KIAA1549 0 0 0 1 0 0 1
KIZ 1 0 0 0 0 0 1
LARGE1 1 0 0 0 0 0 1
LOC112806037, MERTK 0 1 0 0 0 0 1
MERTK, MKS1 1 0 0 0 0 0 1
MFSD8 0 1 0 0 0 0 1
P3H2 1 0 0 0 0 0 1
PANK2 1 0 0 0 0 0 1
PCDH15 0 1 0 0 0 0 1
PDE6G 1 0 0 0 0 0 1
POC5 0 0 1 0 0 0 1
PRPF3 1 0 0 0 0 0 1
RAB28 0 0 1 0 0 0 1
SAG 0 1 0 0 0 0 1
SCAPER 1 0 0 0 0 0 1
SPATA7 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 72 145 70 0 0 0 287
Sharon lab,Hadassah-Hebrew University Medical Center 144 74 0 0 0 0 218
NIHR Bioresource Rare Diseases, University of Cambridge 38 151 22 2 0 0 213
Department of Ophthalmology and Visual Sciences Kyoto University 34 57 0 0 0 0 91
Illumina Clinical Services Laboratory,Illumina 5 6 45 0 0 0 56
Mendelics 35 9 3 5 3 0 55
Human Genetics - Radboudumc,Radboudumc 10 1 7 0 0 0 18
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 8 0 0 0 0 0 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 3 0 0 0 0 6
Center for Medical Genetics Ghent,University of Ghent 0 4 2 0 0 0 6
Rui Chen Lab,Baylor College of Medicine 2 0 0 2 0 0 4
GeneReviews 3 0 0 0 0 0 3
Ocular Genomics Institute,Massachusetts Eye and Ear 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 0 2
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 1 1
Personalis, Inc. 1 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 1
Rappaport Faculty of Medicine,Technion-Israel Institute of Technology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 0 1 0 0 0 1
Leeds Institute of Medical Research,University of Leeds 1 0 0 0 0 0 1
The Cell Therapy Center,The University of Jordan 1 0 0 0 0 0 1

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