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Shieh Lab (University of California, San Francisco)

General information

Shieh Lab
University of California, San Francisco
San Francisco
California
United States

Organization ID: 507802

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 23

    Gene

    GeneSubmissionsLast Updated
    ACAN1Nov 5, 2020
    ATRX1Nov 5, 2020
    BCKDHA1Nov 5, 2020
    FRAS12Nov 5, 2020
    INTS12Nov 5, 2020
    KCNB11Nov 5, 2020
    LHX31Nov 5, 2020
    MAP2K11Nov 5, 2020
    MMAB1Nov 5, 2020
    NECTIN11Nov 5, 2020
    NHEJ11Nov 5, 2020
    OGDH1Nov 5, 2020
    PHF81Nov 5, 2020
    RPS6KA31Nov 5, 2020
    SMAD41Nov 5, 2020
    TANGO22Nov 5, 2020
    TSPEAR2Nov 5, 2020
    USP341Nov 5, 2020
    WAC1Nov 5, 2020

    Condition

    NameSubmissionsLast Updated
    Alpha thalassemia-X-linked intellectual disability syndrome1Nov 5, 2020
    Cardiofaciocutaneous syndrome 31Nov 5, 2020
    Chromosome 2p16.1-p15 deletion syndrome1Nov 5, 2020
    Cleft lip/palate-ectodermal dysplasia syndrome1Nov 5, 2020
    Coffin-Lowry syndrome1Nov 5, 2020
    DeSanto-Shinawi syndrome due to WAC point mutation1Nov 5, 2020
    Developmental and epileptic encephalopathy, 261Nov 5, 2020
    Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2Nov 5, 2020
    Fraser syndrome 12Nov 5, 2020
    Maple syrup urine disease1Nov 5, 2020
    Methylmalonic aciduria, cblB type1Nov 5, 2020
    Myhre syndrome1Nov 5, 2020
    Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies2Nov 5, 2020
    Non-acquired combined pituitary hormone deficiency with spine abnormalities1Nov 5, 2020
    Osteochondritis dissecans1Nov 5, 2020
    Oxoglutaricaciduria1Nov 5, 2020
    Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Nov 5, 2020
    Syndactyly type 11Nov 5, 2020
    Syndromic X-linked intellectual disability Siderius type1Nov 5, 2020