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: 79
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Gene or gene combination pathogenic likely pathogenic likely benign not provided total
USH2A 6 11 2 0 19
ABCA4 7 0 7 0 14
EYS 4 9 1 0 14
RPGR 0 5 3 0 8
RHO 4 2 1 0 7
ABCC6 0 0 5 0 5
GUCY2D 1 0 4 0 5
PDE6B 3 2 0 0 5
​intergenic 0 0 0 4 4
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
EYS, PHF3 2 1 0 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
RP1 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
CYP4V2 1 0 1 0 2
LOC126860392, RP1 0 1 1 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
ABCA4, LOC126805794 0 0 1 0 1
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
CASP6, MCUB 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
CYP4V2, LOC129993526 0 0 1 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, ZNF454 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, TNFRSF10A-DT 0 0 0 1 1
LOC122152296, USH2A 1 0 0 0 1
LOC126859653, SKIC2 0 0 0 1 1
LRAT 0 1 0 0 1
MMP20 0 0 0 1 1
NRL 0 1 0 0 1
OPA3 0 0 1 0 1
POLR1C 0 0 0 1 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
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
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Condition pathogenic likely pathogenic likely benign not provided total
Retinitis pigmentosa 34 57 0 0 91
not provided 0 0 58 21 79
Severe early-childhood-onset retinal dystrophy 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 due to a JAG1 point mutation 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

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