U.S. flag

An official website of the United States government

ISCA site 1

General information

ISCA site 1

Bethesda
Maryland
United States

Organization ID: 505237

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 7274

    Gene

    GeneSubmissionsLast Updated
    ABCA133Sep 26, 2017
    ADGRL31Sep 26, 2017
    ADGRV11Sep 26, 2017
    ADK1Sep 26, 2017
    AGAP13Sep 26, 2017
    AGBL46Sep 26, 2017
    AK91Sep 26, 2017
    AKAP91Sep 26, 2017
    AKT34Sep 26, 2017
    ALG131Sep 26, 2017
    ANKRD113Feb 4, 2019
    ANKS1B1Sep 26, 2017
    ANOS12Sep 26, 2017
    APP1Sep 26, 2017
    ARB2A1Sep 26, 2017
    ARHGAP151Sep 26, 2017
    ARID1B2Sep 26, 2017
    ASTN24Sep 26, 2017
    ATP2C12Sep 26, 2017
    ATP2C21Sep 26, 2017
    ATP8A22Sep 26, 2017
    ATRNL15Sep 26, 2017
    ATXN11Sep 26, 2017
    AUTS29Feb 4, 2019
    BABAM21Sep 26, 2017
    BAZ2B1Sep 26, 2017
    BBS91Sep 26, 2017
    BCKDHB1Sep 26, 2017
    BMPR1A1Sep 26, 2017
    BMPR21Sep 26, 2017
    BRCA11Sep 26, 2017
    BRCA21Sep 26, 2017
    BRWD31Sep 26, 2017
    C16orf471Sep 26, 2017
    CACNA1A1Sep 26, 2017
    CACNA1C1Sep 26, 2017
    CACNA2D11Sep 26, 2017
    CACNA2D34Sep 26, 2017
    CADM11Sep 26, 2017
    CADM21Sep 26, 2017
    CADPS22Sep 26, 2017
    CALCRL-AS11Sep 26, 2017
    CALN11Sep 26, 2017
    CAMKMT1Sep 26, 2017
    CAMTA13Sep 26, 2017
    CASK4Sep 26, 2017
    CCSER11Sep 26, 2017
    CD363Sep 26, 2017
    CDH123Sep 26, 2017
    CDH132Sep 26, 2017
    CDH43Sep 26, 2017
    CDH81Sep 26, 2017
    CDK141Sep 26, 2017
    CDKL53Sep 26, 2017
    CEP1121Sep 26, 2017
    CEP1281Sep 26, 2017
    CHEK21Sep 26, 2017
    CHRNA72Sep 26, 2017
    CLCN51Sep 26, 2017
    CMSS11Sep 26, 2017
    CNBD11Sep 26, 2017
    CNTN434Sep 26, 2017
    CNTNAP218Sep 26, 2017
    COL4A61Sep 26, 2017
    CPED11Sep 26, 2017
    CREBBP2Sep 26, 2017
    CSMD15Sep 26, 2017
    CSMD35Sep 26, 2017
    CTNNA22Sep 26, 2017
    CTNNA318Sep 26, 2017
    CTNND24Sep 26, 2017
    CUL4B1Sep 26, 2017
    DAB11Sep 26, 2017
    DCC1Sep 26, 2017
    DCX1Sep 26, 2017
    DIAPH31Sep 26, 2017
    DIP2C2Sep 26, 2017
    DLG23Sep 26, 2017
    DLGAP11Sep 26, 2017
    DLGAP25Sep 26, 2017
    DMD28Feb 4, 2019
    DOCK41Sep 26, 2017
    DOCK82Sep 26, 2017
    DOK61Sep 26, 2017
    DPP61Sep 26, 2017
    DPYD2Sep 26, 2017
    EHMT18Feb 4, 2019
    EMX21Sep 26, 2017
    ENTPD1-AS11Sep 26, 2017
    ERBB41Sep 26, 2017
    ERC11Sep 26, 2017
    EXOC43Sep 26, 2017
    EXT11Sep 26, 2017
    EXT23Sep 26, 2017
    EYS3Sep 26, 2017
    FAAH21Sep 26, 2017
    FARS21Sep 26, 2017
    FBN11Sep 26, 2017
    FBN21Sep 26, 2017
    FBXL172Sep 26, 2017
    FBXO111Sep 26, 2017
    FGF122Sep 26, 2017
    FGGY1Sep 26, 2017
    FHIT1Sep 26, 2017
    FOXP11Sep 26, 2017
    FOXP22Sep 26, 2017
    FSTL52Sep 26, 2017
    FTO1Sep 26, 2017
    G6PD1Sep 26, 2017
    GABRG22Sep 26, 2017
    GALNTL62Sep 26, 2017
    GLI21Sep 26, 2017
    GMDS2Sep 26, 2017
    GPC32Sep 26, 2017
    GPC54Sep 26, 2017
    GPC62Sep 26, 2017
    GPHN6Sep 26, 2017
    GRID11Sep 26, 2017
    GRID26Sep 26, 2017
    GRIN2A1Sep 26, 2017
    GRM71Sep 26, 2017
    HACE11Sep 26, 2017
    HDAC41Sep 26, 2017
    HDAC81Sep 26, 2017
    HDAC92Sep 26, 2017
    IGF1R1Sep 26, 2017
    IGH2Sep 26, 2017
    IKBKG1Sep 26, 2017
    IL1RAPL110Sep 26, 2017
    IMMP2L3Sep 26, 2017
    JARID21Sep 26, 2017
    JMJD1C1Sep 26, 2017
    KANK113Sep 26, 2017
    KATNAL25Sep 26, 2017
    KCNIP41Sep 26, 2017
    KHDRBS23Sep 26, 2017
    KIAA08251Sep 26, 2017
    KIF26B2Sep 26, 2017
    KIRREL31Sep 26, 2017
    LAMA21Sep 26, 2017
    LARGE14Sep 26, 2017
    LETM11Sep 26, 2017
    LINGO27Sep 26, 2017
    LOC1284623771Feb 4, 2019
    LPP3Sep 26, 2017
    LRBA1Sep 26, 2017
    LRP1B2Sep 26, 2017
    LRRC4C1Sep 26, 2017
    MACROD216Sep 26, 2017
    MBD56Feb 4, 2019
    MCTP21Sep 26, 2017
    MECP22Sep 26, 2017
    MED13L4Sep 26, 2017
    MEF2C2Sep 26, 2017
    MEIS21Sep 26, 2017
    MID12Sep 26, 2017
    MKLN11Sep 26, 2017
    MYCN1Sep 26, 2017
    NCKAP51Sep 26, 2017
    NEGR13Sep 26, 2017
    NELL11Sep 26, 2017
    NF11Sep 26, 2017
    NIPBL2Sep 26, 2017
    NLGN4X2Sep 26, 2017
    NOTCH22Sep 26, 2017
    NPAS31Sep 26, 2017
    NRG31Sep 26, 2017
    NRXN121Feb 4, 2019
    NRXN33Sep 26, 2017
    NTRK21Sep 26, 2017
    OCRL1Sep 26, 2017
    OPCML1Sep 26, 2017
    PACRG1Sep 26, 2017
    PAFAH1B11Sep 26, 2017
    PARD33Sep 26, 2017
    PAX91Sep 26, 2017
    PCCA1Sep 26, 2017
    PCDH151Sep 26, 2017
    PCDH92Sep 26, 2017
    PDE11A7Sep 26, 2017
    PDE11A-AS14Sep 26, 2017
    PDE1C1Sep 26, 2017
    PDHA12Sep 26, 2017
    PHACTR11Sep 26, 2017
    PHEX1Sep 26, 2017
    PHKA11Sep 26, 2017
    PLCB11Sep 26, 2017
    POLR1C1Sep 26, 2017
    POTEI11Sep 26, 2017
    POU6F22Sep 26, 2017
    PRKCA1Sep 26, 2017
    PRKN4Sep 26, 2017
    PSD31Sep 26, 2017
    PTCHD1-AS4Sep 26, 2017
    PTPRD1Sep 26, 2017
    PTPRN23Sep 26, 2017
    PTPRT2Sep 26, 2017
    RAD51B2Sep 26, 2017
    RARB1Sep 26, 2017
    RBFOX155Sep 26, 2017
    RBMS31Sep 26, 2017
    ROBO12Sep 26, 2017
    ROBO21Sep 26, 2017
    RPS6KA31Sep 26, 2017
    RSRC11Sep 26, 2017
    RYR21Sep 26, 2017
    SATB21Sep 26, 2017
    SCAPER1Sep 26, 2017
    SCN2A1Sep 26, 2017
    SDHC1Sep 26, 2017
    SDK13Sep 26, 2017
    SEMA5A1Sep 26, 2017
    SHANK23Sep 26, 2017
    SHANK31Sep 26, 2017
    SIM11Sep 26, 2017
    SIPA1L11Sep 26, 2017
    SLC16A121Sep 26, 2017
    SLC24A21Sep 26, 2017
    SLC3A11Sep 26, 2017
    SLC4A101Sep 26, 2017
    SMC1A3Sep 26, 2017
    SMYD34Sep 26, 2017
    SNHG145Sep 26, 2017
    SNRPN2Sep 26, 2017
    SNTG12Sep 26, 2017
    SNX291Sep 26, 2017
    SORCS11Sep 26, 2017
    SORCS31Sep 26, 2017
    SOX52Sep 26, 2017
    SPECC11Sep 26, 2017
    SPOCK11Sep 26, 2017
    STK32B2Sep 26, 2017
    STON1-GTF2A1L1Sep 26, 2017
    STPG26Sep 26, 2017
    STS1Sep 26, 2017
    STXBP5L1Sep 26, 2017
    SUGCT1Sep 26, 2017
    SUMF11Sep 26, 2017
    SUPT3H1Sep 26, 2017
    SYNE23Sep 26, 2017
    TARS31Sep 26, 2017
    TBC1D22A1Sep 26, 2017
    TBC1D51Sep 26, 2017
    TBX51Sep 26, 2017
    TENM12Sep 26, 2017
    TENM22Sep 26, 2017
    TENM31Sep 26, 2017
    TGIF11Sep 26, 2017
    THADA1Sep 26, 2017
    THSD41Aug 30, 2017
    THSD7B1Sep 26, 2017
    TIAM11Sep 26, 2017
    TMEM132D1Sep 26, 2017
    TMEM1631Sep 26, 2017
    TMEM38B1Sep 26, 2017
    TNXB1Sep 26, 2017
    TPO1Sep 26, 2017
    TRAPPC91Sep 26, 2017
    TSPAN121Sep 26, 2017
    UBE3A2Sep 26, 2017
    ULK44Sep 26, 2017
    USH2A1Sep 26, 2017
    USP71Sep 26, 2017
    VPS13B1Sep 26, 2017
    WWOX5Sep 26, 2017
    YWHAE1Sep 26, 2017
    ZDHHC141Sep 26, 2017
    ZEB11Sep 26, 2017
    ZFHX31Sep 26, 2017
    ZNF4071Sep 26, 2017
    ZNF411Sep 26, 2017

    Condition

    NameSubmissionsLast Updated
    See cases7274Feb 4, 2019