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Institute of Human Genetics (University of Ulm), IHG-UU

General information

Institute of Human Genetics, IHG-UU
University of Ulm
Albert-Einstein-Allee 11
Ulm
Baden-Wurttemberg
Germany - 89081
https://www.uniklinik-ulm.de/humangenetik/
Organization ID: 320388

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 41

    Gene

    GeneSubmissionsLast Updated
    ARMC31Oct 27, 2022
    BNC21Apr 8, 2020
    BNC2-AS11Apr 8, 2020
    BRF14Dec 4, 2014
    CABP21Nov 23, 2023
    CCN61May 13, 2019
    CHCHD21Apr 8, 2020
    CNNM41May 14, 2019
    CREBBP1Jun 28, 2023
    DYM1Feb 27, 2020
    EDAR2Jun 13, 2019
    FERMT11Mar 6, 2023
    HCFC11Mar 20, 2024
    HYCC11Jan 8, 2024
    KAT81Jan 8, 2024
    LAMB32Mar 6, 2023
    LAMC21Mar 6, 2023
    LOC1300060301Nov 28, 2023
    LTBP33Nov 28, 2023
    MLPH1Jul 23, 2019
    MN11Mar 11, 2024
    MPV171Nov 7, 2022
    NSUN22Nov 8, 2022
    PRX1Nov 7, 2022
    PSPH1Apr 8, 2020
    RANBP22Jun 13, 2019
    RANBP3-DT1Oct 25, 2021
    RFX21Oct 25, 2021
    SACS3Nov 7, 2022
    SACS-AS11Nov 7, 2022
    SLC13A31May 24, 2023
    SLC24A41Sep 12, 2019
    SLC9A61May 24, 2023
    TANGO21Jun 28, 2023
    UBA21Nov 23, 2022
    WNT10A1Jun 13, 2019

    Condition

    NameSubmissionsLast Updated
    ACCES syndrome1Nov 23, 2022
    Amelogenesis imperfecta3Apr 8, 2020
    Amelogenesis imperfecta hypomaturation type 2A51Sep 12, 2019
    Autosomal recessive nonsyndromic hearing loss 931Nov 23, 2023
    Brachyolmia-amelogenesis imperfecta syndrome3Nov 28, 2023
    CEBALID syndrome1Mar 11, 2024
    Cerebellar-facial-dental syndrome4Dec 4, 2014
    Charcot-Marie-Tooth disease X-linked dominant 11Nov 7, 2022
    Charcot-Marie-Tooth disease type 4F1Nov 7, 2022
    Charcot-Marie-Tooth disease, axonal, type 2EE1Nov 7, 2022
    Charlevoix-Saguenay spastic ataxia2Nov 7, 2022
    Christianson syndrome1May 24, 2023
    Dyggve-Melchior-Clausen syndrome1Feb 27, 2020
    Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive2Jun 13, 2019
    Epidermolysis bullosa, junctional 3A, intermediate1Mar 6, 2023
    Griscelli syndrome type 31Jul 23, 2019
    Hypomyelination and Congenital Cataract1Jan 8, 2024
    Intellectual disability, autosomal recessive 52Nov 8, 2022
    Jalili syndrome1May 14, 2019
    Junctional epidermolysis bullosa, non-Herlitz type2Mar 6, 2023
    Kindler syndrome1Mar 6, 2023
    Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate1May 24, 2023
    Li-Ghorbani-Weisz-Hubshman syndrome1Jan 8, 2024
    Methylmalonic acidemia with homocystinuria, type cblX1Mar 20, 2024
    Progressive pseudorheumatoid dysplasia1May 13, 2019
    Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Jun 28, 2023
    Rubinstein-Taybi syndrome due to CREBBP mutations1Jun 28, 2023
    Stuttering, familial persistent, 41Oct 27, 2022
    Tooth agenesis1Oct 25, 2021
    Tooth agenesis, selective, 41Jun 13, 2019