Human Genetics - Radboudumc (Radboudumc)

General information

Human Genetics - Radboudumc
Radboudumc
Geert grooteplein zuid 10
Nijmegen
Netherlands - 6525 GA
https://www.radboudumc.nl/Research/Organisationofresearch/Departments/HumanGenetics/Pages/default.aspx
Organization ID: 505925

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 189

    Gene

    GeneSubmissionsLast Updated
    ABCA412Sep 14, 2016
    ABHD122Sep 14, 2016
    ACBD52Sep 14, 2016
    ADGRV11Sep 14, 2016
    AHI12Sep 14, 2016
    BBS13Sep 14, 2016
    BBS121Sep 14, 2016
    BBS52Sep 14, 2016
    BEST12Sep 14, 2016
    C10orf1051Sep 14, 2016
    C1QTNF51Sep 14, 2016
    CABP41Sep 14, 2016
    CACNA1F1Sep 14, 2016
    CDH233Sep 14, 2016
    CDH31Sep 14, 2016
    CEP2903Sep 14, 2016
    CERKL1Sep 14, 2016
    CLN33Sep 14, 2016
    CLRN12Sep 14, 2016
    CNGA34Sep 14, 2016
    CNGB11Sep 14, 2016
    CNGB35Sep 14, 2016
    CRB13Sep 14, 2016
    CRX1Sep 14, 2016
    CRYBA11Sep 14, 2016
    CYGB2Sep 14, 2016
    DYNC2H19Mar 30, 2021
    EYA11Sep 14, 2016
    EYS17Sep 14, 2016
    FAM161A2Sep 14, 2016
    GPHN2Sep 14, 2016
    GUCY2D4Sep 14, 2016
    IMPDH11Sep 14, 2016
    IMPG21Sep 14, 2016
    IQCB14Sep 14, 2016
    MFRP1Sep 14, 2016
    NR2E33Sep 14, 2016
    NRL1Sep 14, 2016
    OPA11Sep 14, 2016
    PANK23Sep 14, 2016
    PAX61Sep 14, 2016
    PDE6B9Sep 14, 2016
    PDE6B-AS12Sep 14, 2016
    PHF31Sep 14, 2016
    PRCD2Sep 14, 2016
    PRDM161Sep 14, 2016
    PROM14Sep 14, 2016
    PRPF312Sep 14, 2016
    PRPH21Sep 14, 2016
    RDH122Sep 14, 2016
    RHO1Sep 14, 2016
    RP14Sep 14, 2016
    RP22Sep 14, 2016
    RPE656Sep 14, 2016
    RPGR8Sep 14, 2016
    RPGRIP12Sep 14, 2016
    SLC24A12Sep 14, 2016
    SPATA72Sep 14, 2016
    TOPORS1Sep 14, 2016
    TTLL51Sep 14, 2016
    USH2A29Sep 14, 2016
    USH2A-AS13Sep 14, 2016
    USH2A-AS21Sep 14, 2016
    VSX22Sep 14, 2016
    WDR353Mar 30, 2021
    ZDHHC243Sep 14, 2016
    ZFYVE261Sep 14, 2016

    Condition

    NameSubmissionsLast Updated
    Achromatopsia 23Sep 14, 2016
    Age-related macular degeneration 23Sep 14, 2016
    Autosomal dominant optic atrophy classic form1Sep 14, 2016
    Bardet-Biedl syndrome 13Sep 14, 2016
    Bardet-Biedl syndrome 121Sep 14, 2016
    Bardet-Biedl syndrome 52Sep 14, 2016
    Branchiootorenal Syndrome 11Sep 14, 2016
    Cataract, congenital zonular, with sutural opacities1Sep 14, 2016
    Cone dystrophy3Sep 14, 2016
    Cone-rod dystrophy11Sep 14, 2016
    Cone-rod dystrophy 121Sep 14, 2016
    Cone-rod dystrophy 63Sep 14, 2016
    Cone-rod dystrophy, X-linked 11Sep 14, 2016
    Congenital aniridia1Sep 14, 2016
    Congenital stationary night blindness, type 2B1Sep 14, 2016
    Cranioectodermal dysplasia 23Mar 30, 2021
    Leber congenital amaurosis6Sep 14, 2016
    Leber congenital amaurosis 11Sep 14, 2016
    Leber congenital amaurosis 101Sep 14, 2016
    Leber congenital amaurosis 22Sep 14, 2016
    Leber congenital amaurosis 32Sep 14, 2016
    Leber congenital amaurosis 62Sep 14, 2016
    Macular dystrophy4Sep 14, 2016
    Macular dystrophy, vitelliform, 51Sep 14, 2016
    Nanophthalmos1Sep 14, 2016
    Retinal dystrophy5Sep 14, 2016
    Retinitis pigmentosa18Sep 14, 2016
    Retinitis pigmentosa 14Sep 14, 2016
    Retinitis pigmentosa 101Sep 14, 2016
    Retinitis pigmentosa 112Sep 14, 2016
    Retinitis pigmentosa 156Sep 14, 2016
    Retinitis pigmentosa 193Sep 14, 2016
    Retinitis pigmentosa 21Sep 14, 2016
    Retinitis pigmentosa 203Sep 14, 2016
    Retinitis pigmentosa 2515Sep 14, 2016
    Retinitis pigmentosa 271Sep 14, 2016
    Retinitis pigmentosa 281Sep 14, 2016
    Retinitis pigmentosa 311Sep 14, 2016
    Retinitis pigmentosa 362Sep 14, 2016
    Retinitis pigmentosa 3920Sep 14, 2016
    Retinitis pigmentosa 41Sep 14, 2016
    Retinitis pigmentosa 409Sep 14, 2016
    Retinitis pigmentosa 411Sep 14, 2016
    Retinitis pigmentosa 451Sep 14, 2016
    Senior-Loken syndrome 52Sep 14, 2016
    Short-rib thoracic dysplasia 3 with or without polydactyly9Mar 30, 2021
    Stargardt disease2Sep 14, 2016
    Stargardt disease 16Sep 14, 2016
    Usher Syndrome, Type III2Sep 14, 2016
    Usher syndrome2Sep 14, 2016
    Usher syndrome type 1D3Sep 14, 2016
    Usher syndrome, type 2A7Sep 14, 2016
    Usher syndrome, type 2C1Sep 14, 2016
    Vitelliform macular dystrophy type 21Sep 14, 2016
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