ClinVar

General information

ClinVar

Bethesda
United States - 20892
http://www.ncbi.nlm.nih.gov/clinvar
Organization ID: 500139

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 1153

    Gene

    GeneSubmissionsLast Updated
    ACVRL12Jan 2, 2013
    ADAR8Jun 27, 2013
    ADD31Jun 17, 2016
    ALB19Sep 6, 2012
    APOC34Jul 2, 2014
    AQP21Mar 17, 2010
    ATM1Jan 2, 2013
    ATP7B6Mar 16, 2011
    ATRX1Mar 18, 2012
    B3GALNT24Jun 27, 2013
    BRCA1264Mar 30, 2013
    BRCA2180Mar 30, 2013
    C11orf651Jan 2, 2013
    CACNA1S1Oct 27, 2010
    CFTR440Mar 30, 2013
    CFTR-AS126Mar 30, 2013
    CNGA31Mar 20, 2012
    COL7A11Sep 16, 2008
    CSRP31Jan 2, 2013
    EGFR5Jun 27, 2013
    EGFR-AS11Jun 27, 2013
    EPB422Nov 10, 2016
    ESR12Dec 4, 2014
    FAM111A5Jun 27, 2013
    FAM126A1Jun 9, 2008
    FGFR21Jul 10, 2016
    GALC1Jun 27, 2013
    GALT1Mar 3, 2014
    GLRA11Jun 9, 2012
    HARS22Jun 27, 2013
    HBB1Jan 2, 2013
    HLA-B1Nov 13, 2012
    IGH2Jan 2, 2013
    IGHM2Jan 2, 2013
    KCNQ130Mar 30, 2013
    KCNQ1-AS11Mar 30, 2013
    KCNQ1OT12Mar 30, 2013
    KCNQ418May 10, 2018
    KRAS1Jun 9, 2012
    LOC1019273181Mar 17, 2010
    LOC1071335101Jan 2, 2013
    LOC1100063191Jan 2, 2013
    LOC11167447244Mar 30, 2013
    LOC11167447515Mar 30, 2013
    LOC1116744772Mar 30, 2013
    LOC1136641067Mar 30, 2013
    MAN2B141Aug 25, 2015
    MECP22Mar 21, 2012
    MMAB1Dec 21, 2016
    MMP21Oct 27, 2010
    MVK1Dec 21, 2016
    MYH111Jan 2, 2013
    MYPN15Jun 27, 2013
    NOTCH31Mar 3, 2014
    PACS11Jun 27, 2013
    PAX211Sep 4, 2012
    PAX81Oct 27, 2010
    PAX8-AS11Oct 27, 2010
    PECAM11Jan 2, 2013
    PEX11Jan 22, 2013
    POU3F41Jan 2, 2013
    PRKAG310Jun 27, 2013
    PTCH11Jan 2, 2013
    PTPRQ2Jan 2, 2013
    PYGM1Jan 2, 2013
    RBP339Jun 27, 2013
    RHCE2Jan 2, 2013
    SACS2Feb 27, 2012
    SCG51Mar 3, 2014
    SCN1A1Nov 19, 2020
    SLC45A21Jan 22, 2013
    SPTLC21Jun 27, 2013
    STAT31Apr 29, 2011
    TMEM701Oct 27, 2010
    USB11May 20, 2011
    VWF1Jul 28, 2011
    ZNF1411Jun 27, 2013

    Condition

    NameSubmissionsLast Updated
    Achromatopsia 21Mar 20, 2012
    Agammaglobulinemia, non-Bruton type2Jan 2, 2013
    Aicardi-Goutieres syndrome 68Jun 27, 2013
    Alloalbuminemia10May 15, 2009
    Allopurinol response1Nov 13, 2012
    Alpha thalassemia-X-linked intellectual disability syndrome1Mar 18, 2012
    Analbuminemia9Sep 6, 2012
    Aortic aneurysm, familial thoracic 41Jan 2, 2013
    Ataxia-telangiectasia syndrome1Jan 2, 2013
    Autosomal dominant nonsyndromic deafness 2A17May 10, 2018
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11Mar 3, 2014
    Cerebral palsy1Jun 17, 2016
    Coronary heart disease4Jul 2, 2014
    Cystic fibrosis440Mar 30, 2013
    Deafness, X-linked 21Jan 2, 2013
    Deafness, autosomal recessive 842Jan 2, 2013
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Mar 3, 2014
    Deficiency of alpha-mannosidase41Aug 25, 2015
    Dilated cardiomyopathy 1KK15Jun 27, 2013
    Dominant dystrophic epidermolysis bullosa with absence of skin1Sep 16, 2008
    Estrogen resistance1Aug 8, 2013
    Familial cancer of breast445Dec 4, 2014
    Familial hypertrophic cardiomyopathy 121Jan 2, 2013
    Galactosylceramide beta-galactosidase deficiency1Jun 27, 2013
    Glycogen content in skeletal muscle, increased10Jun 27, 2013
    Glycogen storage disease, type V1Jan 2, 2013
    Gorlin syndrome1Jan 2, 2013
    Hereditary mixed polyposis syndrome 11Mar 3, 2014
    Hereditary sensory and autonomic neuropathy type IC1Jun 27, 2013
    Hyperekplexia 11Jun 9, 2012
    Hypomyelination and Congenital Cataract1Jun 9, 2008
    Jervell and Lange-Nielsen syndrome 14Mar 30, 2013
    Kenny-Caffey syndrome type 22Jun 27, 2013
    Leber congenital amaurosis1Jan 22, 2013
    Long QT syndrome, LQT1 subtype26Mar 30, 2013
    Lung carcinoma5Jun 27, 2013
    Malignant melanoma of skin1Jan 22, 2013
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 114Jun 27, 2013
    Noonan syndrome 11Jun 9, 2012
    Osteocraniostenosis3Jun 27, 2013
    Perrault syndrome 22Jun 27, 2013
    Pfeiffer syndrome1Jul 10, 2016
    Poikiloderma with neutropenia1May 20, 2011
    Postaxial polydactyly type A61Jun 27, 2013
    Retinitis pigmentosa 6639Jun 27, 2013
    Schuurs-hoeijmakers syndrome1Jun 27, 2013
    Severe myoclonic epilepsy in infancy1Nov 19, 2020
    Spherocytosis type 52Nov 10, 2016
    Telangiectasia, hereditary hemorrhagic, type 22Jan 2, 2013
    Vitamin B12-responsive methylmalonic acidemia type cblB1Dec 21, 2016
    Wilson disease6Mar 16, 2011
    not provided27Jan 2, 2013
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