ClinVar Miner

Variants from Institute of Medical Molecular Genetics, University of Zurich

Location: Switzerland  Primary collection method: clinical testing
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
25 161 3 0 0 189

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCA4 0 78 0 78
RPGR 8 4 0 12
BEST1 0 10 0 10
CRB1 0 7 0 7
PRPH2 0 7 0 7
ABCA4, LOC126805793 0 6 0 6
CYP1B1 6 0 0 6
CDKL5, RS1 0 4 0 4
C1QTNF5, MFRP 3 0 0 3
CNGB3 0 3 0 3
GUCY2D 0 3 0 3
KCNV2 0 3 0 3
MFSD8 0 3 0 3
OPA1 0 3 0 3
PROM1 0 3 0 3
ATOH7 2 0 0 2
CDHR1 0 2 0 2
CEP290 0 2 0 2
CNGA3 0 2 0 2
CNGB1 0 2 0 2
CYP4V2 0 2 0 2
FOXC1 1 0 1 2
FOXC1, FOXF2, FOXQ1, GMDS 2 0 0 2
RP1 0 2 0 2
RP1L1 0 2 0 2
RS1 0 2 0 2
ADAR, LOC126805874 1 0 0 1
BEST1, FTH1 0 1 0 1
CRX 0 1 0 1
EFEMP1 0 1 0 1
ELOVL4 0 1 0 1
FAM111A 0 0 1 1
GIGYF2, KCNJ13 0 1 0 1
GPR180, TGDS 1 0 0 1
GUCA1A, LOC118142757 0 1 0 1
LOC130064709, OPA3 0 0 1 1
PCARE 0 1 0 1
PDE6C 0 1 0 1
PRSS56 1 0 0 1
RGR 0 1 0 1
RP2 0 1 0 1
SNRNP200 0 1 0 1

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance total
Severe early-childhood-onset retinal dystrophy 0 76 0 76
Retinitis pigmentosa 3 7 4 0 11
Autosomal recessive bestrophinopathy 0 7 0 7
Glaucoma 3A 6 0 0 6
Juvenile retinoschisis 0 6 0 6
Vitelliform macular dystrophy 2 0 5 0 5
CRB1-related maculopathy 0 4 0 4
Cone-rod dystrophy 3 0 4 0 4
Patterned macular dystrophy 1 0 4 0 4
Retinitis pigmentosa 19 0 4 0 4
Achromatopsia 3 0 3 0 3
Autosomal dominant optic atrophy classic form 0 3 0 3
Cone dystrophy with supernormal rod response 0 3 0 3
Cone-rod dystrophy 12 0 3 0 3
Leber congenital amaurosis 8 0 3 0 3
Macular dystrophy with central cone involvement 0 3 0 3
Nanophthalmos 2 3 0 0 3
Achromatopsia 2 0 2 0 2
Anterior segment dysgenesis 3 1 0 1 2
Bietti crystalline corneoretinal dystrophy 0 2 0 2
Cone-rod dystrophy 15 0 2 0 2
Foveal hypoplasia; Optic nerve hypoplasia 2 0 0 2
Leber congenital amaurosis 1 0 2 0 2
Leber congenital amaurosis 10 0 2 0 2
Retinitis pigmentosa 1 0 2 0 2
Retinitis pigmentosa 45 0 2 0 2
Retinitis pigmentosa 88 0 2 0 2
Aicardi-Goutieres syndrome 6 1 0 0 1
Autosomal dominant Kenny-Caffey syndrome 0 0 1 1
Cone dystrophy 3 0 1 0 1
Cone dystrophy 4 0 1 0 1
Cone-rod dystrophy 2 0 1 0 1
Cone-rod dystrophy 6 0 1 0 1
Congenital miosis 1 0 0 1
Doyne honeycomb retinal dystrophy 0 1 0 1
Foveal hypoplasia 0 0 1 1
Glaucoma of childhood 1 0 0 1
Isolated microphthalmia 6 1 0 0 1
Late onset congenital glaucoma 1 0 0 1
Macular degeneration, X-linked atrophic 1 0 0 1
Retinitis pigmentosa 2 0 1 0 1
Retinitis pigmentosa 33 0 1 0 1
Retinitis pigmentosa 44 0 1 0 1
Retinitis pigmentosa 54 0 1 0 1
Retinitis pigmentosa 7 0 1 0 1
Snowflake vitreoretinal degeneration 0 1 0 1
Stargardt disease 3 0 1 0 1
Vitelliform macular dystrophy 3 0 1 0 1

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