ClinVar Miner

Variants from Human Genetics - Radboudumc,Radboudumc

Location: Netherlands — 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
110 16 52 0 0 178

Gene and significance breakdown #

Total genes and gene combinations: 59
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
USH2A 9 5 12 26
EYS 13 0 4 17
ABCA4 5 5 2 12
PDE6B 7 1 1 9
RPGR 7 0 1 8
RPE65 2 1 3 6
CNGB3 3 0 2 5
CNGA3 2 0 2 4
GUCY2D 3 0 1 4
IQCB1 4 0 0 4
PROM1 2 0 2 4
RP1 4 0 0 4
BBS1, ZDHHC24 2 0 1 3
CEP290 3 0 0 3
CLN3 2 1 0 3
CRB1 2 0 1 3
LOC102723833, USH2A 3 0 0 3
NR2E3 3 0 0 3
ABHD12 1 0 1 2
ACBD5 0 0 2 2
AHI1 1 0 1 2
BBS5 2 0 0 2
BEST1 0 1 1 2
CDH23 1 0 1 2
CLRN1 1 0 1 2
CYGB, PRCD 1 0 1 2
FAM161A 2 0 0 2
PANK2 1 0 1 2
PRPF31 1 0 1 2
RP2 2 0 0 2
RPGRIP1 2 0 0 2
SLC24A1 2 0 0 2
SPATA7 1 0 1 2
VSX2 1 0 1 2
ADGRV1 0 0 1 1
BBS12 0 0 1 1
C10orf105, CDH23 1 0 0 1
C1QTNF5, MFRP 0 1 0 1
CABP4 1 0 0 1
CACNA1F 0 0 1 1
CDH3 0 0 1 1
CERKL 1 0 0 1
CNGB1 1 0 0 1
CRX 0 0 1 1
CRYBA1 1 0 0 1
ELP4, LOC106007485, LOC106007493, PAX6 1 0 0 1
EYA1 0 0 1 1
GPHN, RDH12 0 0 1 1
GPHN, RDH12, ZFYVE26 1 0 0 1
IMPDH1 0 0 1 1
IMPG2 1 0 0 1
MIR103A2, MIR103B2, PANK2 1 0 0 1
NRL 1 0 0 1
OPA1 0 1 0 1
PRPH2 1 0 0 1
RHO 1 0 0 1
TOPORS 1 0 0 1
TTLL5 1 0 0 1
WDR35 1 0 0 1

Condition and significance breakdown #

Total conditions: 53
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Condition pathogenic likely pathogenic uncertain significance total
Retinitis pigmentosa 39 8 3 9 20
Retinitis pigmentosa 10 1 7 18
Retinitis pigmentosa 25 12 0 3 15
Cone-rod dystrophy 6 0 5 11
Retinitis pigmentosa 40 7 1 1 9
Usher syndrome, type 2A 4 2 1 7
Leber congenital amaurosis 5 0 1 6
Retinitis pigmentosa 15 5 0 1 6
Stargardt disease 1 0 5 1 6
Retinal dystrophy 3 0 2 5
Macular dystrophy 2 0 2 4
Retinitis pigmentosa 1 4 0 0 4
Achromatopsia 2 2 0 1 3
Age-related macular degeneration 2 3 0 0 3
Bardet-Biedl syndrome 1 2 0 1 3
Cone-rod dystrophy 6 2 0 1 3
Cone/cone-rod dystrophy 2 0 1 3
Retinitis pigmentosa 19 2 0 1 3
Retinitis pigmentosa 20 1 1 1 3
Usher syndrome, type 1D 2 0 1 3
Bardet-Biedl syndrome 5 2 0 0 2
Leber congenital amaurosis 2 1 0 1 2
Leber congenital amaurosis 3 1 0 1 2
Leber congenital amaurosis 6 2 0 0 2
Retinitis pigmentosa 11 1 0 1 2
Retinitis pigmentosa 36 1 0 1 2
Senior-Loken syndrome 5 2 0 0 2
Stargardt disease 1 0 1 2
Usher syndrome 1 0 1 2
Usher syndrome, type 3A 1 0 1 2
Aniridia 1 0 0 1
Bardet-Biedl syndrome 12 0 0 1 1
Cataract, congenital zonular, with sutural opacities 1 0 0 1
Cone-rod dystrophy 12 1 0 0 1
Cone-rod dystrophy, X-linked 1 1 0 0 1
Congenital stationary night blindness, type 2B 1 0 0 1
Cranioectodermal dysplasia 2 1 0 0 1
Dominant hereditary optic atrophy 0 1 0 1
Leber congenital amaurosis 1 1 0 0 1
Leber congenital amaurosis 10 1 0 0 1
Macular dystrophy, vitelliform, 5 1 0 0 1
Melnick-Fraser syndrome 0 0 1 1
Nanophthalmos 0 1 0 1
Retinitis pigmentosa 10 0 0 1 1
Retinitis pigmentosa 2 1 0 0 1
Retinitis pigmentosa 27 1 0 0 1
Retinitis pigmentosa 28 1 0 0 1
Retinitis pigmentosa 31 1 0 0 1
Retinitis pigmentosa 4 1 0 0 1
Retinitis pigmentosa 41 0 0 1 1
Retinitis pigmentosa 45 1 0 0 1
Usher syndrome, type 2C 0 0 1 1
Vitelliform macular dystrophy type 2 0 1 0 1

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