ClinVar Miner

Variants from DBGen Ocular Genomics

Location: Spain  Primary collection method: clinical testing
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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 total
155 103 113 0 2 372

Gene and significance breakdown #

Total genes and gene combinations: 121
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
USH2A 13 12 8 0 33
ABCA4 6 9 7 0 22
RPGR 10 2 7 0 19
EYS 7 2 5 0 14
CRB1 4 8 1 0 13
RPE65 6 1 3 0 10
CEP290 4 0 5 0 9
RP1 3 3 2 0 8
GUCY2D 5 2 0 0 7
PCARE 4 3 0 0 7
ALMS1 3 3 0 0 6
PDE6A 4 1 1 0 6
CLN3 0 1 4 0 5
CNGA3 1 4 0 0 5
IFT140, LOC105371046 1 0 4 0 5
OPA1 2 1 2 0 5
PRPF8 0 0 5 0 5
RHO 1 3 1 0 5
RP2 2 2 1 0 5
ABCA4, LOC126805793 1 0 3 0 4
ADGRV1 0 0 4 0 4
CDHR1 1 2 1 0 4
EYS, PHF3 2 1 1 0 4
GPHN, RDH12 1 3 1 0 4
IMPDH1 1 1 1 1 4
IMPG2 4 0 0 0 4
MYO7A 1 3 0 0 4
PROM1 3 1 0 0 4
PRPF31 1 1 2 0 4
RP1L1 3 1 0 0 4
ACO2 1 1 1 0 3
BEST1 2 1 0 0 3
CHM 3 0 0 0 3
COL2A1 2 0 1 0 3
GPHN, RDH12, ZFYVE26 0 1 2 0 3
LCA5 3 0 0 0 3
LRAT 2 1 0 0 3
MERTK 0 0 3 0 3
NYX 1 0 2 0 3
PDE6B 1 2 0 0 3
PDE6C 2 1 0 0 3
POC1B 2 0 1 0 3
PRPH2 1 2 0 0 3
RPGRIP1 1 1 1 0 3
ADAMTS18 0 0 1 1 2
AIPL1 2 0 0 0 2
BBS5 2 0 0 0 2
CABP4 1 0 1 0 2
CDH23 0 1 1 0 2
CFAP410 0 1 1 0 2
CNGB1 1 0 1 0 2
CRX 1 1 0 0 2
FOXC1 0 1 1 0 2
IQCB1 2 0 0 0 2
KRT3, LOC126861527 0 2 0 0 2
NDP 1 1 0 0 2
OAT 1 0 1 0 2
PANK2 1 0 1 0 2
REEP6 1 0 1 0 2
RIMS1 0 0 2 0 2
RTN4IP1 1 0 1 0 2
SPATA7 1 1 0 0 2
TSPAN12 1 1 0 0 2
WDR19 1 0 1 0 2
ABCA4, LOC126805794 1 0 0 0 1
AGBL5 0 0 1 0 1
ARL6 0 0 1 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 1
BBS12 0 0 1 0 1
BBS2 0 1 0 0 1
BBS4 1 0 0 0 1
BBS7 0 0 1 0 1
BCOR, LOC126863239 0 0 1 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 1
CACNA1F 1 0 0 0 1
CACNA1F, LOC126863257 0 1 0 0 1
CAPN5 0 0 1 0 1
CDKL5, RS1 0 1 0 0 1
CERKL 0 0 1 0 1
CFH 0 0 1 0 1
CNGA1, LOC101927157 0 1 0 0 1
CNGB3 0 0 1 0 1
COL4A1 1 0 0 0 1
COL4A5 1 0 0 0 1
CPAMD8 1 0 0 0 1
CTC1 1 0 0 0 1
CWC27 1 0 0 0 1
CYP1B1 0 1 0 0 1
EPHA2 1 0 0 0 1
FAM161A 1 0 0 0 1
FOXC1, LOC129995601 0 1 0 0 1
FZD4, PRSS23 1 0 0 0 1
GNAT1 1 0 0 0 1
GPR143 1 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 1 0 0 1
HK1 0 0 1 0 1
HMX1 1 0 0 0 1
IFT140 0 0 1 0 1
IFT140, LOC126862260 0 0 1 0 1
IFT172 0 0 1 0 1
KIAA1549 1 0 0 0 1
KRT12 0 1 0 0 1
LOC105369889, POC1B 0 0 1 0 1
LOC122152296, USH2A 0 1 0 0 1
LOC126860392, RP1 0 1 0 0 1
LYST 0 0 1 0 1
NR2E3 1 0 0 0 1
OPA3 0 1 0 0 1
OPN1MW 1 0 0 0 1
OTX2 1 0 0 0 1
P3H2 1 0 0 0 1
PRDM13 0 0 1 0 1
PTCH1 1 0 0 0 1
PXDN 1 0 0 0 1
RAB28 0 0 1 0 1
RPGRIP1L 0 1 0 0 1
SEMA3E 0 0 1 0 1
SNRNP200 0 0 1 0 1
TRAF3IP1 0 0 1 0 1
TTC8 1 0 0 0 1
TULP1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 112
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Condition pathogenic likely pathogenic uncertain significance benign total
Retinitis pigmentosa 3 6 18 1 28
Retinitis pigmentosa 39 6 11 8 0 25
Severe early-childhood-onset retinal dystrophy 7 8 8 0 23
Retinitis pigmentosa 25 9 3 6 0 18
Retinitis pigmentosa 3 10 2 6 0 18
Leber congenital amaurosis 6 4 2 0 12
Retinitis pigmentosa 1 3 4 2 0 9
Usher syndrome type 2A 7 2 0 0 9
Leber congenital amaurosis 2 4 1 3 0 8
Retinitis pigmentosa 12 3 4 1 0 8
Retinal dystrophy 3 3 1 0 7
Retinitis pigmentosa 54 4 3 0 0 7
Retinitis pigmentosa 43 4 1 1 0 6
Retinitis pigmentosa 80 1 0 5 0 6
Cone-rod dystrophy 1 1 3 0 5
Leber congenital amaurosis 1 4 1 0 0 5
Leber congenital amaurosis 10 3 0 2 0 5
Retinitis pigmentosa 13 0 0 5 0 5
Retinitis pigmentosa 2 2 2 1 0 5
Retinitis pigmentosa 4 1 3 1 0 5
Achromatopsia 2 2 0 0 4
Achromatopsia 2 1 3 0 0 4
Cone-rod dystrophy 15 1 2 1 0 4
Cone-rod dystrophy 20 2 0 2 0 4
Retinitis pigmentosa 10 1 1 1 1 4
Retinitis pigmentosa 11 1 1 2 0 4
Retinitis pigmentosa 41 3 1 0 0 4
Retinitis pigmentosa 88 3 1 0 0 4
Axenfeld-Rieger syndrome type 3 0 2 1 0 3
Choroideremia 3 0 0 0 3
Cone dystrophy 1 1 1 0 3
Glaucoma 3A 2 1 0 0 3
Leber congenital amaurosis 14 2 1 0 0 3
Leber congenital amaurosis 5 3 0 0 0 3
Leber congenital amaurosis 8 1 2 0 0 3
Macular dystrophy 0 1 2 0 3
Retinitis pigmentosa 38 0 0 3 0 3
Retinitis pigmentosa 40 1 2 0 0 3
Stargardt disease 2 1 0 0 3
Usher syndrome type 1 1 2 0 0 3
Atrophia bulborum hereditaria 1 1 0 0 2
Autosomal dominant optic atrophy classic form 1 1 0 0 2
Autosomal recessive optic atrophy 1 1 0 0 2
Bardet-Biedl syndrome 5 2 0 0 0 2
Corneal dystrophy, Meesmann, 2 0 2 0 0 2
Exudative vitreoretinopathy 5 1 1 0 0 2
Isolated macular dystrophy 1 1 0 0 2
Leber congenital amaurosis 13 1 0 1 0 2
Leber congenital amaurosis 3 1 1 0 0 2
Leber congenital amaurosis 4 2 0 0 0 2
Leber congenital amaurosis 6 1 1 0 0 2
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 1 0 1 0 2
Optic atrophy 9 1 0 1 0 2
Ornithine aminotransferase deficiency 1 0 1 0 2
Retinitis pigmentosa 19 1 0 1 0 2
Retinitis pigmentosa 20 2 0 0 0 2
Retinitis pigmentosa 45 1 0 1 0 2
Retinitis pigmentosa 56 2 0 0 0 2
Retinitis pigmentosa 77 1 0 1 0 2
Stickler syndrome type 1 2 0 0 0 2
Usher syndrome type 1D 0 1 1 0 2
Vitelliform macular dystrophy 3 1 1 0 0 2
Achromatopsia 3 0 0 1 0 1
Age related macular degeneration 4 0 0 1 0 1
Anterior segment dysgenesis 8 0 0 1 0 1
Autosomal recessive bestrophinopathy 1 0 0 0 1
Bardet-Biedl syndrome 2 0 1 0 0 1
Bardet-Biedl syndrome 4 1 0 0 0 1
Bardet-Biedl syndrome 7 0 0 1 0 1
Cataract 6 multiple types 1 0 0 0 1
Cerebroretinal microangiopathy with calcifications and cysts 1 1 0 0 0 1
Cone-rod dystrophy 13 0 0 1 0 1
Cone-rod dystrophy 18 0 0 1 0 1
Cone-rod dystrophy 3 0 1 0 0 1
Cone-rod synaptic disorder, congenital nonprogressive 1 0 0 0 1
Congenital stationary night blindness 0 0 1 0 1
Congenital stationary night blindness 1A 0 0 1 0 1
Congenital stationary night blindness 2A 0 1 0 0 1
Congenital stationary night blindness autosomal dominant 3 1 0 0 0 1
Corneal dystrophy, Meesmann, 1 0 1 0 0 1
Exudative vitreoretinopathy 1 1 0 0 0 1
Irido-corneo-trabecular dysgenesis 1 0 0 0 1
Isolated anophthalmia-microphthalmia syndrome 0 0 1 0 1
Isolated microphthalmia 6 1 0 0 0 1
Juvenile retinoschisis 0 1 0 0 1
Leber congenital amaurosis 15 1 0 0 0 1
Leber congenital amaurosis 7 1 0 0 0 1
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 1 0 0 0 1
Neuronal ceroid lipofuscinosis 3 0 0 1 0 1
North Carolina macular dystrophy 0 0 1 0 1
Occult macular dystrophy 0 0 1 0 1
Ocular albinism, type I 1 0 0 0 1
Optic neuropathy 0 0 1 0 1
Patterned dystrophy of the retinal pigment epithelium 0 1 0 0 1
Rare isolated myopia 1 0 0 0 1
Retinal dystrophy with or without macular staphyloma 0 1 0 0 1
Retinitis pigmentosa 26 0 0 1 0 1
Retinitis pigmentosa 28 1 0 0 0 1
Retinitis pigmentosa 33 0 0 1 0 1
Retinitis pigmentosa 37 1 0 0 0 1
Retinitis pigmentosa 49 0 1 0 0 1
Retinitis pigmentosa 51 1 0 0 0 1
Retinitis pigmentosa 71 0 0 1 0 1
Retinitis pigmentosa 75 0 0 1 0 1
Retinitis pigmentosa 86 1 0 0 0 1
Senior-Loken syndrome 9 0 0 1 0 1
Turner syndrome 1 0 0 0 1
Usher syndrome type 2C 0 0 1 0 1
Vitelliform macular dystrophy 2 0 1 0 0 1
Vitelliform macular dystrophy 5 1 0 0 0 1
X-linked Alport syndrome 1 0 0 0 1
X-linked cone-rod dystrophy 1 0 0 1 0 1

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