Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital (College of Medicine, The Catholic University of Korea)

General information

Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital
College of Medicine, The Catholic University of Korea
56, Dongsu-ro
Bupyeong-gu
Inch'on-jikhalsi
South Korea - 21431

Organization ID: 506870

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 49

    Gene

    GeneSubmissionsLast Updated
    ACTA11Feb 11, 2019
    ALDH3A22Feb 14, 2019
    ANO52Feb 26, 2019
    ATM2Nov 27, 2019
    BSCL21Feb 11, 2019
    CACNA1A3Feb 11, 2019
    CAPN32Feb 14, 2019
    CYP27A11Feb 11, 2019
    DES2Feb 11, 2019
    DMD2Feb 21, 2019
    DYSF4Feb 28, 2019
    EIF2B32Feb 6, 2019
    EMD1Feb 11, 2019
    GJB12Feb 11, 2019
    GNE3Mar 7, 2019
    HNRNPUL2-BSCL21Feb 11, 2019
    INF21Feb 11, 2019
    LMNA2Feb 11, 2019
    MFN21Feb 11, 2019
    MYH71Feb 8, 2019
    PMP221Feb 11, 2019
    REEP11Feb 8, 2019
    RYR12Feb 13, 2019
    SACS2Feb 14, 2019
    SPAST2Feb 11, 2019
    SPG112Feb 28, 2019
    TTN2Feb 28, 2019
    TTN-AS11Feb 19, 2019
    WDR622Jun 25, 2019

    Condition

    NameSubmissionsLast Updated
    ACTA1 gene related myopathy1Feb 11, 2019
    Ataxia _ Neurologic (child onset)1Feb 11, 2019
    Ataxia-telangiectasia syndrome2Nov 27, 2019
    Autosomal recessive limb-girdle muscular dystrophy type 2B4Feb 28, 2019
    Charcot-Marie-Tooth Neuropathy X Type 12Feb 11, 2019
    Charcot-Marie-Tooth disease and deafness1Feb 11, 2019
    Charcot-Marie-Tooth disease, dominant intermediate E1Feb 11, 2019
    Charcot-Marie-Tooth disease, type 2A2A1Feb 11, 2019
    Charlevoix-Saguenay spastic ataxia2Feb 14, 2019
    Cholestanol storage disease1Feb 11, 2019
    Congenital muscular dystrophy, LMNA-related1Feb 11, 2019
    Congenital myopathy with excess of thin filaments1Feb 11, 2019
    Congenital titinopathy2Feb 28, 2019
    Distal hereditary motor neuronopathy type 51Feb 11, 2019
    Duchenne muscular dystrophy2Feb 21, 2019
    Emery-Dreifuss muscular dystrophy 1, X-linked1Feb 11, 2019
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Feb 11, 2019
    Episodic ataxia type 22Feb 11, 2019
    GNE myopathy3Mar 7, 2019
    Leukoencephalopathy with vanishing white matter2Feb 6, 2019
    Limb-girdle muscular dystrophy, type 2A2Feb 14, 2019
    Limb-girdle muscular dystrophy, type 2L2Feb 26, 2019
    Minicore myopathy with external ophthalmoplegia2Feb 13, 2019
    Miyoshi muscular dystrophy 32Feb 26, 2019
    Myofibrillar myopathy 12Feb 11, 2019
    Myopathy, early-onset, with fatal cardiomyopathy2Feb 28, 2019
    Myosin storage myopathy1Feb 8, 2019
    Non-progressive congenital cerebellar ataxia1Feb 11, 2019
    Primary autosomal recessive microcephaly 22Jun 25, 2019
    Sjögren-Larsson syndrome2Feb 14, 2019
    Spastic paraplegia 11, autosomal recessive2Feb 28, 2019
    Spastic paraplegia 171Feb 11, 2019
    Spastic paraplegia 31, autosomal dominant1Feb 8, 2019
    Spastic paraplegia 4, autosomal dominant2Feb 11, 2019
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