ClinVar Miner

Variants from Molecular Genetics Laboratory, Institute for Ophthalmic Research

Location: Germany  Primary collection method: research
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 total
554 64 47 1 6 663

Gene and significance breakdown #

Total genes and gene combinations: 114
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNGB3 87 11 7 0 0 103
CNGA3 20 39 14 1 5 79
USH2A 53 0 0 0 0 53
RPGR 36 0 0 0 0 36
ABCA4 30 0 1 0 0 31
CRB1 18 0 1 0 0 19
GNAT2 11 4 5 0 0 19
PRPF31 16 0 0 0 0 16
PDE6C 7 1 7 0 0 15
PDE6B 11 5 3 0 0 14
EYS 13 0 0 0 0 13
PDE6A 9 0 0 0 0 9
PRPH2 9 0 0 0 0 9
RP1 9 0 0 0 0 9
ATF6 8 0 0 0 0 8
CEP290 8 0 0 0 0 8
IMPG2 8 0 0 0 0 8
RPGRIP1 8 0 0 0 0 8
PROM1 7 0 0 0 0 7
CNGA1, LOC101927157 6 0 0 0 0 6
BEST1 5 0 0 0 0 5
CNGB1 5 0 0 0 0 5
PRPF8 5 0 0 0 0 5
RP2 4 0 1 0 0 5
RPE65 2 0 3 0 0 5
AIPL1 2 0 2 0 0 4
ALMS1 4 0 0 0 0 4
BBS4 4 0 0 0 0 4
CACNA1F 4 0 0 0 0 4
CLN3 4 0 0 0 0 4
FAM161A 4 0 0 0 0 4
MYO7A 4 0 0 0 0 4
SAG 4 0 0 0 0 4
SNRNP200 4 0 0 0 0 4
VPS13B 3 0 0 0 1 4
ABCA4, LOC126805793 3 0 0 0 0 3
ADGRV1 3 0 0 0 0 3
BBS1, ZDHHC24 3 0 0 0 0 3
CDH23 3 0 0 0 0 3
CDKL5, RS1 3 0 0 0 0 3
CHM 3 0 0 0 0 3
CHM, LOC129391306 3 0 0 0 0 3
GNAT2, LOC129388577 2 0 2 0 0 3
IMPG1 3 0 0 0 0 3
KCNV2 3 0 0 0 0 3
MERTK 3 0 0 0 0 3
NR2E3 3 0 0 0 0 3
TTLL5 3 0 0 0 0 3
TULP1 3 0 0 0 0 3
USH1C 3 0 0 0 0 3
ABCA4, LOC126805794 2 0 0 0 0 2
ARL6 2 0 0 0 0 2
BBS10 2 0 0 0 0 2
BBS12 2 0 0 0 0 2
CEP78 2 0 0 0 0 2
CERKL 2 0 0 0 0 2
CERKL, ITGA4 2 0 0 0 0 2
EYS, PHF3 2 0 0 0 0 2
FLVCR1 2 0 0 0 0 2
GUCA1A, GUCA1ANB-GUCA1A 2 0 0 0 0 2
LCA5 2 0 0 0 0 2
MAK 2 0 0 0 0 2
NMNAT1 2 0 0 0 0 2
PCARE 2 0 0 0 0 2
PRPF3 2 0 0 0 0 2
RBP3 2 0 0 0 0 2
RHO 2 0 0 0 0 2
RLBP1 2 0 0 0 0 2
SEMA4A 2 0 0 0 0 2
​intergenic 1 0 0 0 0 1
AHI1 1 0 0 0 0 1
AHR 0 1 0 0 0 1
BBS1 1 0 0 0 0 1
BBS2 1 0 0 0 0 1
BBS7 1 0 0 0 0 1
BLOC1S1-RDH5, RDH5 1 0 0 0 0 1
C10orf105, CDH23 1 0 0 0 0 1
CACNA2D4 1 0 0 0 0 1
CDH23, LOC111982869 1 0 0 0 0 1
CDHR1 0 0 1 0 0 1
CFAP410 1 0 0 0 0 1
COL18A1, SLC19A1 1 0 0 0 0 1
COL4A5 1 0 0 0 0 1
COL9A2 0 1 0 0 0 1
CRNDE, IRX5, IRX6, LOC101927480, LOC110120574, LOC110120575, LOC110120576, LOC110120835, LOC125177315, LOC126862355, LOC126862356, LOC126862357, LOC130059036, LOC130059037, LOC130059038, LOC130059039, LPCAT2, MMP2 1 0 0 0 0 1
CRNDE, IRX5, IRX6, LOC110120574, LOC110120575, LOC110120576, LOC110120835, LOC125177315, LOC126862355, LOC126862356, LOC126862357, LOC130059036, LOC130059037, LOC130059038, LOC130059039, MMP2 1 0 0 0 0 1
CYGB, PRCD 1 0 0 0 0 1
GALK1 1 0 0 0 0 1
GPHN, RDH12 1 0 0 0 0 1
IMPDH1 1 0 0 0 0 1
IMPDH1, LOC129999258 1 0 0 0 0 1
IQCB1 1 0 0 0 0 1
KIAA1549 1 0 0 0 0 1
KIZ, LOC130065509 1 0 0 0 0 1
KLHL7 1 0 0 0 0 1
LOC112806037, MERTK 1 0 0 0 0 1
LOC122152296, USH2A 1 0 0 0 0 1
LOC125467793, OPN1LW, OPN1MW, OPSIN-LCR 1 0 0 0 0 1
LOC126806932, PCYT1A 1 0 0 0 0 1
LOC130056224, LOC130056225, LOC130056226, SPATA7 1 0 0 0 0 1
LOC130068202, RP2 1 0 0 0 0 1
LOXL3 1 0 0 0 0 1
LRAT 1 0 0 0 0 1
OAT 1 0 0 0 0 1
PDE6G 1 0 0 0 0 1
PITPNM3 1 0 0 0 0 1
POC1B 1 0 0 0 0 1
PXDN 0 1 0 0 0 1
RIMS1 1 0 0 0 0 1
SNX10 0 1 0 0 0 1
TOPORS 1 0 0 0 0 1
USH1G 1 0 0 0 0 1
VCAN 1 0 0 0 0 1
VSX2 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Retinitis pigmentosa 235 0 0 0 1 236
Achromatopsia 3 81 11 6 0 0 98
Achromatopsia 2 6 36 13 1 5 61
Achromatopsia 31 4 10 0 0 45
Usher syndrome type 2 32 0 0 0 0 32
Cone-rod dystrophy 29 0 1 0 0 30
Achromatopsia 4 11 4 7 0 0 22
Isolated macular dystrophy 18 0 0 0 0 18
Cone dystrophy 16 0 0 0 0 16
Leber congenital amaurosis 14 0 0 0 0 14
Stargardt disease 12 0 0 0 0 12
Retinitis pigmentosa 40 2 5 3 0 0 10
Achromatopsia 7 8 0 0 0 0 8
Bardet-Biedl syndrome 8 0 0 0 0 8
Vitelliform macular dystrophy 2 8 0 0 0 0 8
Choroideremia 6 0 0 0 0 6
Leber congenital amaurosis 8 4 0 1 0 0 5
Usher syndrome type 1 5 0 0 0 0 5
Congenital isolated adrenocorticotropic hormone deficiency 1 0 3 0 0 4
Alstrom syndrome 3 0 0 0 0 3
Autosomal dominant cone dystrophy with early tritanopia 3 0 0 0 0 3
Central areolar choroidal dystrophy 3 0 0 0 0 3
Congenital stationary night blindness 3 0 0 0 0 3
Early-onset retinal dystrophy 3 0 0 0 0 3
Juvenile retinoschisis 3 0 0 0 0 3
Leber congenital amaurosis 4 0 0 2 0 0 2
Leber congenital amaurosis 6 2 0 0 0 0 2
Ornithine aminotransferase deficiency 2 0 0 0 0 2
Stickler syndrome 1 1 0 0 0 2
Anterior segment dysgenesis 0 1 0 0 0 1
Cone monochromatism 1 0 0 0 0 1
Cone-rod dystrophy 15 0 0 1 0 0 1
Cone-rod dystrophy 2 1 0 0 0 0 1
Cone-rod dystrophy 3 1 0 0 0 0 1
Congenital stationary night blindness 2A 1 0 0 0 0 1
Deficiency of galactokinase 1 0 0 0 0 1
Helicoid peripapillary chorioretinal degeneration 1 0 0 0 0 1
Infantile nystagmus with foveal hypoplasia 0 1 0 0 0 1
Infantile osteopetrosis 0 1 0 0 0 1
Knobloch syndrome 1 0 0 0 0 1
Microphthalmia; Anophthalmia 1 0 0 0 0 1
Pigmentary retinal dystrophy 1 0 0 0 0 1
Retinitis pigmentosa 2 0 0 1 0 0 1
Retinitis pigmentosa, juvenile 1 0 0 0 0 1
Retinitis pigmentosa; Retinitis punctata albescens 1 0 0 0 0 1
Usher syndrome 1 0 0 0 0 1
Wagner syndrome 1 0 0 0 0 1

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