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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: 1179

    Gene

    GeneSubmissionsLast Updated
    ACVRL12Jan 2, 2013
    ADAR8Jun 27, 2013
    ADD31Jun 17, 2016
    ALB19Sep 6, 2012
    APOC34Jul 2, 2014
    AQP21Mar 17, 2010
    AQP5-AS11Mar 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
    COL5A11Jul 13, 2022
    COL7A11Sep 16, 2008
    CRYGC1Jun 13, 2024
    CSRP31Jan 2, 2013
    DYNC1H11Jul 22, 2015
    EGFR5Jun 27, 2013
    EGFR-AS11Jun 27, 2013
    EPB422Nov 10, 2016
    ESR12Dec 4, 2014
    F71Jun 5, 2024
    FAAH1Jul 11, 2024
    FAM111A5Jun 27, 2013
    FGFR21Jul 10, 2016
    GALC1Jun 27, 2013
    GALT1Mar 3, 2014
    GAN1Oct 14, 2021
    GLRA11Jun 9, 2012
    HARS22Jun 27, 2013
    HBB1Jan 2, 2013
    HLA-B1Nov 13, 2012
    HYCC11Jun 9, 2008
    IGH2Jan 2, 2013
    IGHM2Jan 2, 2013
    IRF2BP21Jun 4, 2024
    KCNQ130Mar 30, 2013
    KCNQ1-AS11Mar 30, 2013
    KCNQ1OT12Mar 30, 2013
    KCNQ418May 10, 2018
    KRAS1Jun 9, 2012
    LMO11Jul 8, 2024
    LOC1005074431Jun 13, 2024
    LOC1071335101Jan 2, 2013
    LOC1100063191Jan 2, 2013
    LOC11167447244Mar 30, 2013
    LOC11167447515Mar 30, 2013
    LOC1116744772Mar 30, 2013
    LOC1136641067Mar 30, 2013
    LOC1268058743Jun 27, 2013
    LOC12686257139Mar 30, 2013
    LOC1293910644Aug 25, 2015
    LOC1299302821May 10, 2018
    LOC1299328121Jun 4, 2024
    LOC1300057401Jun 27, 2013
    LOC1300636481Aug 25, 2015
    MAN2B141Jul 15, 2024
    MECP23May 29, 2024
    MED251Apr 30, 2013
    MMAB1Dec 21, 2016
    MMP21Oct 27, 2010
    MVK1Dec 21, 2016
    MYH111Jan 2, 2013
    MYPN15Jun 27, 2013
    NAGLU1Mar 24, 2016
    NEFL1Apr 30, 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
    PSEN11Apr 24, 2024
    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
    Aicardi-Goutieres syndrome 68Jun 27, 2013
    Alloalbuminemia10May 15, 2009
    Allopurinol response1Nov 13, 2012
    Alpha thalassemia-X-linked intellectual disability syndrome1Mar 18, 2012
    Alzheimer disease 31Apr 24, 2024
    Analbuminemia9Sep 6, 2012
    Aortic aneurysm, familial thoracic 41Jan 2, 2013
    Ataxia-telangiectasia syndrome1Jan 2, 2013
    Autosomal dominant Kenny-Caffey syndrome2Jun 27, 2013
    Autosomal dominant nonsyndromic hearing loss 2A17May 10, 2018
    Autosomal dominant nonsyndromic hearing loss 581Jul 11, 2024
    Autosomal recessive agammaglobulinemia 12Jan 2, 2013
    Autosomal recessive nonsyndromic hearing loss 84A2Jan 2, 2013
    Cataract 2, multiple types1Jun 13, 2024
    Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Mar 3, 2014
    Cerebral palsy1Jun 17, 2016
    Charcot-Marie-Tooth disease1Jul 22, 2015
    Charcot-Marie-Tooth disease axonal type 2V1Mar 24, 2016
    Charcot-Marie-Tooth disease type 2B21Apr 30, 2013
    Charcot-Marie-Tooth disease type 2E1Apr 30, 2013
    Chromosome 16q12 duplication syndrome3Jun 21, 2024
    Congenital factor VII deficiency1Jun 5, 2024
    Coronary heart disease4Jul 2, 2014
    Cystic fibrosis440Mar 30, 2013
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Mar 3, 2014
    Deficiency of alpha-mannosidase41Jul 15, 2024
    Dilated cardiomyopathy 1KK15Jun 27, 2013
    Dominant dystrophic epidermolysis bullosa with absence of skin1Sep 16, 2008
    Dowling-Degos disease 21Jul 11, 2024
    Ehlers-Danlos syndrome, classic type, 11Jul 13, 2022
    Endove syndrome, limb-only type1Jul 10, 2024
    Estrogen resistance syndrome1Aug 8, 2013
    Familial cancer of breast445Dec 4, 2014
    Familial median cleft of the upper and lower lips1Jul 11, 2024
    Galactosylceramide beta-galactosidase deficiency1Jun 27, 2013
    Generalized hypotonia1May 29, 2024
    Giant axonal neuropathy 11Oct 14, 2021
    Global developmental delay1May 29, 2024
    Glycogen storage disease, type V1Jan 2, 2013
    Gorlin syndrome1Jan 2, 2013
    Hearing loss, autosomal recessive 118, with cochlear aplasia2Jul 4, 2024
    Hereditary spherocytosis type 52Nov 10, 2016
    Hyperekplexia 11Jun 9, 2012
    Hypertrophic cardiomyopathy 121Jan 2, 2013
    Hypomyelination and Congenital Cataract1Jun 9, 2008
    Hypoplastic femurs and pelvis2Jul 5, 2024
    Inborn error of immunity1Jun 4, 2024
    Increased muscle glycogen content10Jun 27, 2013
    Jervell and Lange-Nielsen syndrome 14Mar 30, 2013
    Leber congenital amaurosis1Jan 22, 2013
    Long QT syndrome 126Mar 30, 2013
    Lung carcinoma5Jun 27, 2013
    Malignant melanoma of skin1Jan 22, 2013
    Metatarsus adductus1May 29, 2024
    Methylmalonic aciduria, cblB type1Dec 21, 2016
    Monocytopenia with susceptibility to infections1May 21, 2024
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 114Jun 27, 2013
    Neuroblastoma, susceptibility to, 71Jul 8, 2024
    Neuropathy, hereditary sensory and autonomic, type 1C1Jun 27, 2013
    Noonan syndrome 11Jun 9, 2012
    Obesity and hypopigmentation1Jun 29, 2024
    Osteocraniostenosis3Jun 27, 2013
    PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 11Jul 11, 2024
    Perrault syndrome 22Jun 27, 2013
    Pfeiffer syndrome1Jul 10, 2016
    Poikiloderma with neutropenia1May 20, 2011
    Polydactyly, postaxial, type A61Jun 27, 2013
    Polyposis syndrome, hereditary mixed, 11Mar 3, 2014
    Retinitis pigmentosa 6639Jun 27, 2013
    Schuurs-Hoeijmakers syndrome1Jun 27, 2013
    Severe myoclonic epilepsy in infancy1Nov 19, 2020
    Telangiectasia, hereditary hemorrhagic, type 22Jan 2, 2013
    Wilson disease6Mar 16, 2011
    X-linked mixed hearing loss with perilymphatic gusher1Jan 2, 2013
    not provided27Jan 2, 2013