Institute of Medical Molecular Genetics (University of Zurich), Medmolgen

General information

Institute of Medical Molecular Genetics, Medmolgen
University of Zurich
Wagistrasse 12
CH-8952 Schlieren
Schwerzenbach
Zurich
Switzerland - 8603
https://www.medmolgen.uzh.ch/en
Organization ID: 300471

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 189

Gene

GeneSubmissionsLast Updated
ABCA484Mar 19, 2021
ADAR1Mar 17, 2020
ATOH72Aug 23, 2019
BEST111Mar 19, 2021
C1QTNF53Mar 17, 2020
CDHR12Mar 19, 2021
CDKL54Mar 19, 2021
CEP2902Mar 19, 2021
CNGA32Mar 19, 2021
CNGB12Mar 19, 2021
CNGB33Mar 19, 2021
CRB17Mar 19, 2021
CRX1Mar 19, 2021
CYP1B16Mar 9, 2020
CYP4V22Mar 19, 2021
EFEMP11Mar 19, 2021
ELOVL41Mar 19, 2021
FAM111A1Mar 17, 2020
FOXC14Mar 9, 2020
GIGYF21Mar 19, 2021
GUCA1A1Mar 19, 2021
GUCY2D3Mar 19, 2021
KCNJ131Mar 19, 2021
KCNV22Mar 19, 2021
LOC1181427571Mar 19, 2021
MFRP3Mar 17, 2020
MFSD83Mar 19, 2021
OPA13Mar 19, 2021
OPA31Aug 23, 2019
PCARE1Mar 19, 2021
PDE6C1Mar 19, 2021
PROM13Mar 19, 2021
PRPH27Mar 19, 2021
PRSS561Mar 17, 2020
RGR1Mar 19, 2021
RP12Mar 19, 2021
RP1L12Mar 19, 2021
RP21Mar 19, 2021
RPGR12Mar 19, 2021
RS16Mar 19, 2021
SNRNP2001Mar 19, 2021

Condition

NameSubmissionsLast Updated
Achromatopsia 22Mar 19, 2021
Achromatopsia 33Mar 19, 2021
Aicardi-Goutieres syndrome 61Mar 17, 2020
Anterior segment dysgenesis 32Mar 9, 2020
Autosomal dominant optic atrophy classic form3Mar 19, 2021
Bestrophinopathy, autosomal recessive7Mar 19, 2021
Bietti crystalline corneoretinal dystrophy2Mar 19, 2021
CRB1-related maculopathy4Mar 19, 2021
Cone dystrophy 31Mar 19, 2021
Cone dystrophy 41Mar 19, 2021
Cone dystrophy with supernormal rod response3Mar 19, 2021
Cone-rod dystrophy 123Mar 19, 2021
Cone-rod dystrophy 152Mar 19, 2021
Cone-rod dystrophy 21Mar 19, 2021
Cone-rod dystrophy 34Mar 19, 2021
Cone-rod dystrophy 61Mar 19, 2021
Congenital miosis1Dec 21, 2020
Doyne honeycomb retinal dystrophy1Mar 19, 2021
Glaucoma 3, primary congenital, A6Mar 9, 2020
Glaucoma of childhood1Mar 9, 2020
Hypoplasia of the fovea3Aug 23, 2019
Juvenile retinoschisis6Mar 19, 2021
Kenny-Caffey syndrome type 21Mar 17, 2020
Late onset congenital glaucoma1Mar 9, 2020
Leber congenital amaurosis 12Mar 19, 2021
Leber congenital amaurosis 102Mar 19, 2021
Leber congenital amaurosis 83Mar 19, 2021
Macular degeneration, X-linked atrophic1Dec 21, 2020
Macular dystrophy with central cone involvement3Mar 19, 2021
Macular dystrophy, patterned, 14Mar 19, 2021
Microphthalmia, isolated 61Mar 17, 2020
Nanophthalmos 23Mar 17, 2020
Optic nerve hypoplasia2Aug 23, 2019
Retinitis pigmentosa 12Mar 19, 2021
Retinitis pigmentosa 1511Mar 19, 2021
Retinitis pigmentosa 194Mar 19, 2021
Retinitis pigmentosa 21Mar 19, 2021
Retinitis pigmentosa 331Mar 19, 2021
Retinitis pigmentosa 441Mar 19, 2021
Retinitis pigmentosa 452Mar 19, 2021
Retinitis pigmentosa 541Mar 19, 2021
Retinitis pigmentosa 71Mar 19, 2021
Retinitis pigmentosa 882Mar 19, 2021
Snowflake vitreoretinal degeneration1Mar 19, 2021
Stargardt Disease 31Mar 19, 2021
Stargardt disease 176Mar 19, 2021
Vitelliform macular dystrophy type 25Mar 19, 2021
vitelliform macular dystrophy 31Mar 19, 2021
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