Variants studied for Retinitis pigmentosa

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
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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