ClinVar Miner

Variants from Department of Ophthalmology and Visual Sciences Kyoto University

Location: Japan — Primary collection method: not provided
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
48 65 0 58 0 21 192

Gene and significance breakdown #

Total genes and gene combinations: 73
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic likely benign not provided total
USH2A 7 11 2 0 20
EYS 6 10 1 0 17
ABCA4 7 0 8 0 15
RPGR 0 5 3 0 8
RHO 4 2 1 0 7
​intergenic 0 0 0 5 5
ABCC6 0 0 5 0 5
GUCY2D 1 0 4 0 5
PDE6B 3 2 0 0 5
RP1 0 4 1 0 5
CNGA1, LOC101927157 0 4 0 0 4
CRX 2 1 1 0 4
PRPH2 3 0 1 0 4
ADGRV1 0 3 0 0 3
CYP4V2 1 0 2 0 3
JAG1 0 1 2 0 3
MAK 0 3 0 0 3
MERTK 0 3 0 0 3
MYO7A 0 1 2 0 3
PRPF31 0 3 0 0 3
RP1L1 0 2 1 0 3
SNRNP200 2 1 0 0 3
ARMS2 0 0 0 2 2
BBS4 0 0 2 0 2
CEP290 0 0 2 0 2
CNGB1 0 2 0 0 2
MKKS 0 0 2 0 2
NR2E3 0 1 1 0 2
PCARE 0 2 0 0 2
RPE65 2 0 0 0 2
TULP1 1 1 0 0 2
WFS1 0 0 2 0 2
ADAMTS9 0 0 0 1 1
AHI1 0 0 1 0 1
B3GLCT 0 0 0 1 1
BEST1 1 0 0 0 1
C1QTNF5, MFRP 0 0 1 0 1
C3 0 0 0 1 1
CDH23 0 0 1 0 1
CFH 0 0 0 1 1
CHM 1 0 0 0 1
CNGB3 0 0 1 0 1
COL10A1, NT5DC1 0 0 0 1 1
COL8A1 0 0 0 1 1
CRB1 1 0 0 0 1
CYGB, PRCD 1 0 0 0 1
FSCN2 0 0 1 0 1
FZD4 0 0 1 0 1
GPHN, RDH12 1 0 0 0 1
GPHN, RDH12, ZFYVE26 1 0 0 0 1
GRM6, LOC100130798 0 0 1 0 1
GUCA1B 0 0 1 0 1
HTRA1 0 0 0 1 1
IMPG2 1 0 0 0 1
KCNV2 0 0 1 0 1
LOC111255645, LOC389641 0 0 0 1 1
LRAT 0 1 0 0 1
MCUB 0 0 0 1 1
MMP20 0 0 0 1 1
NRL 0 1 0 0 1
OPA3 0 0 1 0 1
PRPF6 0 1 0 0 1
RAD51B 0 0 0 1 1
ROM1 1 0 0 0 1
RPGRIP1 0 0 1 0 1
RPGRIP1L 0 0 1 0 1
SAG 0 0 1 0 1
SKIV2L 0 0 0 1 1
SLC16A8 0 0 0 1 1
SLC24A1 0 0 1 0 1
SPATA7 0 0 1 0 1
TGFBR1 0 0 0 1 1
TOPORS 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic likely benign not provided total
Retinitis pigmentosa 34 57 0 0 91
not provided 0 0 58 21 79
Stargardt disease 1 6 0 0 0 6
Usher syndrome, type 2A 2 3 0 0 5
Usher syndrome, type 2C 0 3 0 0 3
Alagille syndrome 1 0 1 0 0 1
Bietti crystalline corneoretinal dystrophy 1 0 0 0 1
Choroideremia 1 0 0 0 1
Cone-rod dystrophy 2 1 0 0 0 1
Cone-rod dystrophy 3 1 0 0 0 1
Cone-rod dystrophy 6 1 0 0 0 1
Leber congenital amaurosis 8 1 0 0 0 1
Retinitis pigmentosa 38 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.