Institute of Human Genetics (University of Wuerzburg)

General information

Institute of Human Genetics
University of Wuerzburg
Am Hubland
Wuerzburg
Bayern
Germany - 97074

Organization ID: 505911

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 236

    Gene

    GeneSubmissionsLast Updated
    ALPL16Sep 14, 2019
    AMHR21Sep 14, 2019
    ANKRD111Mar 18, 2021
    ANO55Aug 5, 2021
    AP5Z11Sep 14, 2019
    ASTN21Nov 21, 2016
    ATM3Sep 5, 2018
    BAG31Sep 8, 2021
    BRCA11Sep 5, 2018
    BRCA24Sep 14, 2019
    CACNA1A1Sep 5, 2018
    CDH11Sep 5, 2018
    CFL21Sep 14, 2019
    CHEK21Sep 14, 2019
    CKAP2L1Jul 21, 2021
    CLCN41Aug 5, 2021
    COL12A11Sep 14, 2019
    COL6A32Nov 17, 2020
    COQ8A1Jul 21, 2021
    COX6A11Sep 5, 2018
    CTF11Sep 14, 2019
    DHTKD11Sep 14, 2019
    DIAPH12Mar 18, 2021
    DMD9Sep 8, 2021
    DNAH92Sep 8, 2021
    DNMT3A1Mar 18, 2021
    DSP1Sep 5, 2018
    DYNC1H11Sep 14, 2019
    DYSF4Sep 14, 2019
    EGR21Sep 14, 2019
    F91Jul 23, 2019
    FBN12Sep 14, 2019
    FBXO111Mar 18, 2021
    FHL11Sep 14, 2019
    FLNC7Jul 21, 2021
    FLNC-AS11Sep 14, 2019
    FPGT-TNNI3K1Sep 14, 2019
    GAA1Sep 5, 2018
    GABBR21Mar 18, 2021
    GABRB31Sep 14, 2019
    GAN1Oct 1, 2020
    GCH11Sep 5, 2018
    GDAP11Nov 17, 2020
    GJB11Mar 18, 2021
    GMPPB2Jan 13, 2021
    GRM11Sep 5, 2018
    HARS11Oct 1, 2020
    HCN41Sep 14, 2019
    HINT11Sep 5, 2018
    INCA11Sep 5, 2018
    ISCU1Aug 5, 2021
    ITPR11Sep 14, 2019
    KCNQ11Sep 5, 2018
    KDM1A1Sep 14, 2019
    KIF1C1Sep 5, 2018
    KIF5A1Sep 5, 2018
    KMT2A1Sep 5, 2018
    LAMA23Jul 21, 2021
    LARP71Sep 5, 2018
    LMNA3Jan 13, 2021
    LOC1053710492Sep 5, 2018
    LRP51Sep 5, 2018
    LRP61Sep 14, 2019
    MED13L1Mar 18, 2021
    MED253Sep 14, 2019
    MHRT1Nov 21, 2016
    MLH11Mar 17, 2017
    MME1Jul 21, 2021
    MPZ1Jul 21, 2021
    MSH22Sep 14, 2019
    MSH62Mar 17, 2017
    MYBPC35Jul 21, 2021
    MYH22Oct 1, 2020
    MYH77Mar 18, 2021
    MYHAS2Oct 1, 2020
    MYOT1Sep 14, 2019
    NF14Jul 23, 2019
    NONO1Sep 14, 2019
    PALB21Aug 25, 2017
    PIEZO22Sep 5, 2018
    PKD15Sep 14, 2019
    PKD2L2-DT1Sep 14, 2019
    PLA2G62Sep 14, 2019
    PLP11Oct 1, 2020
    PMP221Jul 21, 2021
    PNPLA21Aug 5, 2021
    POLG1Sep 14, 2019
    POMGNT11Oct 1, 2020
    PRKCG1Jul 29, 2021
    PTCH11Sep 5, 2018
    PTEN2Sep 5, 2018
    PYGM3Mar 18, 2021
    RAB9B1Oct 1, 2020
    RBM202Sep 14, 2019
    RECQL41Sep 14, 2019
    RTEL11Sep 14, 2019
    RTEL1-TNFRSF6B1Sep 14, 2019
    RYR15Jan 13, 2021
    RYR22Sep 14, 2019
    SACS1Sep 14, 2019
    SCN5A1Sep 14, 2019
    SERPING14Sep 14, 2019
    SGCG1Sep 14, 2019
    SHANK21Mar 18, 2021
    SLC12A21Mar 18, 2021
    SMCHD118Sep 8, 2021
    SPG72Sep 14, 2019
    SPTAN11Mar 18, 2021
    STK381Sep 14, 2019
    STXBP12Jul 29, 2021
    TCAP1Sep 6, 2017
    TCF121Sep 5, 2018
    TG1Sep 14, 2019
    TGM61Sep 14, 2019
    TNNC11Mar 18, 2021
    TNNI31Mar 18, 2021
    TNNI3K1Sep 14, 2019
    TNNT21Sep 14, 2019
    TRAPPC111Jul 21, 2021
    TRAPPC121Mar 18, 2021
    TRIM21Sep 14, 2019
    TRIM321Nov 21, 2016
    TRIM631Sep 14, 2019
    TRPM41Jul 21, 2021
    TSPAN11Oct 1, 2020
    TTN6Mar 18, 2021
    TTN-AS15Mar 18, 2021
    TWIST12Jul 23, 2019
    VAC141Mar 18, 2021
    VCL1Sep 14, 2019
    WASHC53Jul 21, 2021
    WDR621Sep 14, 2019
    ZFYVE271Sep 5, 2018

    Condition

    NameSubmissionsLast Updated
    Abnormality of connective tissue2Sep 14, 2019
    Absent radius1Sep 14, 2019
    Angioedema4Sep 14, 2019
    Aortic dissection1Sep 14, 2019
    Arrhythmia2Sep 14, 2019
    Basal cell carcinoma1Sep 5, 2018
    Breast carcinoma5Sep 14, 2019
    Breast neoplasm2Sep 14, 2019
    Cardiomyopathy5Jul 21, 2021
    Cardiomyopathy, left ventricular noncompaction2Sep 14, 2019
    Cerebellar ataxia4Jul 29, 2021
    Congenital contracture2Sep 5, 2018
    Congenital muscular dystrophy2Jul 21, 2021
    Coronal craniosynostosis3Jul 23, 2019
    Delayed speech and language development1Mar 18, 2021
    Distal amyotrophy1Sep 14, 2019
    Distal lower limb muscle weakness2Mar 18, 2021
    Distal muscle weakness1Nov 21, 2016
    Dystonia1Sep 5, 2018
    Elevated serum creatine phosphokinase20Sep 8, 2021
    Epileptic encephalopathy1Jul 29, 2021
    Episodic ataxia1Sep 5, 2018
    Global developmental delay3Aug 5, 2021
    Hereditary nonpolyposis colorectal carcinoma2Mar 17, 2017
    Hydrocephalus2Sep 8, 2021
    Hypertrophic cardiomyopathy8Mar 18, 2021
    Hypogonadism1Jul 21, 2021
    Hypothyroidism1Sep 14, 2019
    Immunodeficiency1Sep 14, 2019
    Intellectual disability9Jul 21, 2021
    Iron accumulation in brain2Sep 14, 2019
    Left ventricular noncompaction1Jul 23, 2019
    Low alkaline phosphatase16Sep 14, 2019
    Lower limb spasticity1Jul 21, 2021
    Male pseudohermaphroditism1Sep 14, 2019
    Malignant hyperthermia2Nov 21, 2016
    Malignant tumor of colon2Jul 23, 2019
    Microcephaly1Sep 14, 2019
    Mild global developmental delay1Sep 14, 2019
    Multiple joint contractures1Sep 14, 2019
    Muscle weakness5Mar 18, 2021
    Muscular dystrophy1Sep 14, 2019
    Muscular hypotonia4Oct 1, 2020
    Myopathy13Aug 5, 2021
    Neonatal seizure2Mar 18, 2021
    Neoplasm2Sep 5, 2018
    Neoplasm of ovary2Sep 5, 2018
    Neoplasm of the rectum1Sep 14, 2019
    Neurodegeneration1Mar 18, 2021
    Neurofibroma1Jul 23, 2019
    Neurofibromatosis type 62Sep 5, 2018
    Oligodontia1Sep 14, 2019
    Peripheral axonal neuropathy1Sep 14, 2019
    Peripheral neuropathy5Jul 21, 2021
    Pes cavus2Nov 17, 2020
    Polycystic kidney disease4Sep 5, 2018
    Polyneuropathy8Sep 14, 2019
    Primary dilated cardiomyopathy20Mar 18, 2021
    Profound global developmental delay1Mar 18, 2021
    Prolonged QT interval1Sep 5, 2018
    Proximal muscle weakness3Jan 13, 2021
    Proximal muscle weakness in upper limbs1Sep 8, 2021
    Reduced factor IX activity1Jul 23, 2019
    Renal insufficiency1Sep 14, 2019
    Restrictive cardiomyopathy2Mar 18, 2021
    Scapular winging1Sep 8, 2021
    Scapulohumeral muscular dystrophy12Sep 14, 2019
    Sensory axonal neuropathy1Sep 5, 2018
    Severe hydrocephalus1Mar 18, 2021
    Shoulder girdle muscle weakness1Oct 7, 2020
    Skeletal muscle atrophy1Jan 13, 2021
    Spastic ataxia1Sep 5, 2018
    Spastic paraplegia6Sep 14, 2019
    Spasticity2Mar 18, 2021
    Spinal neurofibromas1Aug 25, 2017
    Syncope1Sep 14, 2019
    Thyroid cancer, nonmedullary, 21Sep 5, 2018
    Vitreoretinopathy1Sep 5, 2018
    Weakness of facial musculature1Oct 7, 2020
    not provided1Aug 25, 2017
    not specified1Nov 21, 2016
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