GenomeConnect (Clinical Genome Resource)

General information

GenomeConnect
Clinical Genome Resource
Lewisburg
Pennsylvania
United States - 17837
https://www.clinicalgenome.org/share-your-data/patients/
Organization ID: 506185

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 1063

    Gene

    GeneSubmissionsLast Updated
    AARS11Aug 22, 2017
    ABAT1Aug 22, 2017
    ABCA411Jan 30, 2019
    ABCB41Mar 13, 2018
    ABCC11Nov 17, 2017
    ABCC62Aug 22, 2017
    ABCC91Nov 17, 2017
    ACAD81Aug 22, 2017
    ACADM1Mar 13, 2018
    ACADS3Aug 22, 2017
    ACBD61Aug 22, 2017
    ACD1Mar 13, 2018
    ACKR31Mar 13, 2018
    ACO22Aug 22, 2017
    ACOT21Jan 30, 2019
    ACSM51Jan 30, 2019
    ACTG21Jan 30, 2019
    ACTN21Jan 30, 2019
    AGL1Aug 22, 2017
    AGTPBP11Aug 22, 2017
    AHDC12Jan 30, 2019
    AHNAK21Aug 22, 2017
    AIMP11Mar 13, 2018
    ALDH18A11Aug 22, 2017
    ALDH3A21Jan 30, 2019
    ALDH5A12Mar 13, 2018
    ALDOB1Mar 13, 2018
    ALMS12Jan 30, 2019
    ALPL2Jan 30, 2019
    AMPD11Aug 22, 2017
    ANK22Jan 30, 2019
    ANKRD112Aug 22, 2017
    ANLN1Jan 30, 2019
    ANO53Mar 13, 2018
    APC3Mar 13, 2018
    APOB1Mar 13, 2018
    AQP21Aug 22, 2017
    ARFGEF21Aug 22, 2017
    ARG11Mar 13, 2018
    ARHGAP81Jan 30, 2019
    ARID1A1Aug 22, 2017
    ASAH11Mar 13, 2018
    ASS11Aug 22, 2017
    ASTN11Aug 22, 2017
    ASXL33Aug 22, 2017
    ATM6Jan 30, 2019
    ATP13A22Mar 13, 2018
    ATP7B5Jan 30, 2019
    ATRX1Aug 22, 2017
    AVPR21Aug 22, 2017
    AXIN21Mar 13, 2018
    B4GALT73Jan 30, 2019
    BARD11Mar 13, 2018
    BAZ1B1Aug 22, 2017
    BBS11Aug 22, 2017
    BCAP311Aug 22, 2017
    BCHE1Aug 22, 2017
    BCL11B1Jan 30, 2019
    BICD21Aug 22, 2017
    BIN11Mar 13, 2018
    BLOC1S1-RDH51Jan 30, 2019
    BMPR1B1Aug 22, 2017
    BRAF2Aug 22, 2017
    BRCA13Aug 22, 2017
    BRCA213Jan 30, 2019
    BRIP11Mar 13, 2018
    BRPF11Aug 22, 2017
    BRWD11Mar 13, 2018
    BRWD31Jan 30, 2019
    BTD1Aug 22, 2017
    C11orf654Jan 30, 2019
    C16orf741Mar 13, 2018
    C19orf121Aug 22, 2017
    CACHD12Mar 13, 2018
    CACNA1A2Jan 30, 2019
    CACNA1C2Jan 30, 2019
    CACNA1G2Mar 13, 2018
    CACNA1H3Jan 30, 2019
    CACNA2D31Mar 13, 2018
    CACNB21Aug 22, 2017
    CALML41Aug 22, 2017
    CAMK2G1Aug 22, 2017
    CAPG1Jan 30, 2019
    CAPN31Jan 30, 2019
    CARS21Mar 13, 2018
    CASK4Jan 30, 2019
    CASR2Jan 30, 2019
    CATSPER41Mar 13, 2018
    CBL1Aug 22, 2017
    CBS1Mar 13, 2018
    CCDC1901Mar 13, 2018
    CCDC221Mar 13, 2018
    CD191Mar 13, 2018
    CDH232Jan 30, 2019
    CDK5RAP22Mar 13, 2018
    CDT11Aug 22, 2017
    CEBPA1Aug 22, 2017
    CEP1521Mar 13, 2018
    CEP2901Aug 22, 2017
    CFAP1571Mar 13, 2018
    CFTR3Jan 30, 2019
    CFTR-AS12Jan 30, 2019
    CGAS1Mar 13, 2018
    CHAT1Mar 13, 2018
    CHCHD101Mar 13, 2018
    CHD11Aug 22, 2017
    CHD22Jan 30, 2019
    CHD31Jan 30, 2019
    CHD71Aug 22, 2017
    CHD82Mar 13, 2018
    CHEK27Jan 30, 2019
    CHIT11Mar 13, 2018
    CHN12Mar 13, 2018
    CHRNA41Jan 30, 2019
    CHRNG1Aug 22, 2017
    CHST141Aug 22, 2017
    CIZ11Mar 13, 2018
    CLCN41Aug 22, 2017
    CLN81Aug 22, 2017
    CLTC1Jan 30, 2019
    CNGA11Jan 30, 2019
    COASY1Aug 22, 2017
    COG61Mar 13, 2018
    COL11A25Jan 30, 2019
    COL1A12Jan 30, 2019
    COL1A25Jan 30, 2019
    COL2A11Mar 13, 2018
    COL3A18Jan 30, 2019
    COL4A12Mar 13, 2018
    COL4A51Jan 30, 2019
    COL5A15Jan 30, 2019
    COL5A24Jan 30, 2019
    COL6A12Mar 13, 2018
    COL6A23Mar 13, 2018
    COL7A11Jan 30, 2019
    COL9A21Aug 22, 2017
    CORO7-PAM161Mar 13, 2018
    CPNE61Mar 13, 2018
    CPOX1Aug 22, 2017
    CPS16Mar 13, 2018
    CPT21Aug 22, 2017
    CRAT1Jan 30, 2019
    CREBBP1Aug 22, 2017
    CRPPA1Jan 30, 2019
    CSNK2A11Aug 22, 2017
    CSNK2B1Jan 30, 2019
    CTSC1Mar 13, 2018
    CUBN1Aug 22, 2017
    CYP17A12Mar 13, 2018
    CYP17A1-AS11Mar 13, 2018
    CYP1B11Mar 13, 2018
    CYP3A51Mar 13, 2018
    DARS23Mar 13, 2018
    DBNL1Aug 22, 2017
    DCTN12Jan 30, 2019
    DDOST2Mar 13, 2018
    DDX112Mar 13, 2018
    DDX3X1Aug 22, 2017
    DEPDC52Aug 22, 2017
    DGUOK1Jan 30, 2019
    DHCR72Jan 30, 2019
    DHTKD11Mar 13, 2018
    DHX291Mar 13, 2018
    DIP2C1Mar 13, 2018
    DMAC21Jan 30, 2019
    DMD4Jan 30, 2019
    DNAH11Jan 30, 2019
    DNAH141Aug 22, 2017
    DNAJB131Mar 13, 2018
    DNMT11Aug 22, 2017
    DNMT3A1Mar 13, 2018
    DOCK61Mar 13, 2018
    DOCK82Mar 13, 2018
    DPAGT11Jan 30, 2019
    DPYD1Mar 13, 2018
    DPYD-AS11Mar 13, 2018
    DRP21Jan 30, 2019
    DSG1-AS11Mar 13, 2018
    DSG21Aug 22, 2017
    DSG41Mar 13, 2018
    DYNC1H11Aug 22, 2017
    DYRK1A1Aug 22, 2017
    DYSF3Jan 30, 2019
    DYTN1Mar 13, 2018
    EARS22Aug 22, 2017
    EBF31Jan 30, 2019
    EDNRB1Mar 13, 2018
    EDNRB-AS11Mar 13, 2018
    EEF1A21Jan 30, 2019
    EEF21Aug 22, 2017
    EFCAB51Mar 13, 2018
    EFHC11Aug 22, 2017
    EIF2B22Jan 30, 2019
    ELN1Mar 13, 2018
    ELP22Aug 22, 2017
    ELP32Aug 22, 2017
    EMC12Jan 30, 2019
    EMC1-AS11Jan 30, 2019
    ENO33Aug 22, 2017
    EP3001Aug 22, 2017
    EPB411Mar 13, 2018
    EPHB21Mar 13, 2018
    EPS82Jan 30, 2019
    ERBB41Aug 22, 2017
    ERCC21Aug 22, 2017
    ESPN1Mar 13, 2018
    ETHE11Aug 22, 2017
    EXOC41Jan 30, 2019
    EXOSC81Mar 13, 2018
    FANCC1Aug 22, 2017
    FANCM2Mar 13, 2018
    FASN2Jan 30, 2019
    FBN14Jan 30, 2019
    FBN21Mar 13, 2018
    FBP11Aug 22, 2017
    FDPS1Jan 30, 2019
    FERMT12Jan 30, 2019
    FGFR31Mar 13, 2018
    FH1Aug 22, 2017
    FKRP1Jan 30, 2019
    FLCN2Aug 22, 2017
    FLG3Jan 30, 2019
    FLNA4Jan 30, 2019
    FLNB1Aug 22, 2017
    FLNC2Mar 13, 2018
    FLT31Mar 13, 2018
    FN11Mar 13, 2018
    FOXE31Jan 30, 2019
    FYB21Mar 13, 2018
    FZD41Aug 22, 2017
    G6PD1Mar 13, 2018
    GABRA61Aug 22, 2017
    GABRG21Aug 22, 2017
    GADD45GIP11Jan 30, 2019
    GARS11Aug 22, 2017
    GATA31Mar 13, 2018
    GATAD11Aug 22, 2017
    GATAD2B2Jan 30, 2019
    GBA2Jan 30, 2019
    GBA21Aug 22, 2017
    GBE12Mar 13, 2018
    GFER1Mar 13, 2018
    GH-LCR1Aug 22, 2017
    GIPC31Aug 22, 2017
    GJB22Aug 22, 2017
    GJC21Aug 22, 2017
    GLA3Mar 13, 2018
    GLB11Mar 13, 2018
    GLMN1Mar 13, 2018
    GNB52Mar 13, 2018
    GOLGA6L62Aug 22, 2017
    GOSR22Aug 22, 2017
    GP1BA1Mar 13, 2018
    GP91Mar 13, 2018
    GRHPR1Mar 13, 2018
    GRIA12Mar 13, 2018
    GRIA21Aug 22, 2017
    GRIA31Aug 22, 2017
    GRIN12Jan 30, 2019
    GRIN2A1Aug 22, 2017
    GRIN2B2Jan 30, 2019
    GRM51Mar 13, 2018
    GRM61Aug 22, 2017
    GTPBP31Mar 13, 2018
    GYS11Mar 13, 2018
    HBA11Mar 13, 2018
    HBA21Mar 13, 2018
    HBB1Mar 13, 2018
    HEATR91Aug 22, 2017
    HECW21Aug 22, 2017
    HERC21Mar 13, 2018
    HFE2Jan 30, 2019
    HIVEP21Aug 22, 2017
    HK31Jan 30, 2019
    HLA-A1Aug 22, 2017
    HMBS1Jan 30, 2019
    HRAS2Aug 22, 2017
    HSD17B101Aug 22, 2017
    HSD17B41Aug 22, 2017
    HSF41Mar 13, 2018
    HSPB11Aug 22, 2017
    HSPB81Mar 13, 2018
    HUWE11Mar 13, 2018
    IARS21Jan 30, 2019
    IFT741Jan 30, 2019
    IGF1R1Jan 30, 2019
    IL1RAPL11Aug 22, 2017
    IL36RN1Aug 22, 2017
    INHBA1Mar 13, 2018
    INSL61Mar 13, 2018
    IQCE1Jan 30, 2019
    IQSEC21Mar 13, 2018
    ITGA71Jan 30, 2019
    ITPR11Mar 13, 2018
    JAK21Mar 13, 2018
    JAK31Aug 22, 2017
    KANK11Mar 13, 2018
    KAT6B1Aug 22, 2017
    KCNA11Mar 13, 2018
    KCNE11Aug 22, 2017
    KCNH22Aug 22, 2017
    KCNJ101Jan 30, 2019
    KCNJ111Aug 22, 2017
    KCNJ61Mar 13, 2018
    KCNQ21Aug 22, 2017
    KCNV21Aug 22, 2017
    KDM1A1Jan 30, 2019
    KDM5B1Mar 13, 2018
    KDM5C1Mar 13, 2018
    KIAA12101Aug 22, 2017
    KIDINS2201Aug 22, 2017
    KIF1A2Aug 22, 2017
    KIF21B1Jan 30, 2019
    KIRREL31Mar 13, 2018
    KLF81Aug 22, 2017
    KMT2D2Aug 22, 2017
    KRAS1Aug 22, 2017
    LAMA12Jan 30, 2019
    LAMA27Jan 30, 2019
    LDLR2Mar 13, 2018
    LHX41Aug 22, 2017
    LHX4-AS11Aug 22, 2017
    LINC013891Jan 30, 2019
    LIPT11Mar 13, 2018
    LMBRD12Jan 30, 2019
    LMNA3Jan 30, 2019
    LOC1001307981Aug 22, 2017
    LOC1009968421Jan 30, 2019
    LOC1014482021Aug 22, 2017
    LOC1019270551Aug 22, 2017
    LOC1019271571Jan 30, 2019
    LOC1019273181Aug 22, 2017
    LOC1019290571Aug 22, 2017
    LOC1060990621Mar 13, 2018
    LOC1066279812Jan 30, 2019
    LOC1066943161Aug 22, 2017
    LOC1071335101Mar 13, 2018
    LOC1087836451Jan 30, 2019
    LOC1101214651Jan 30, 2019
    LOC1125298951Aug 22, 2017
    LOX1Jan 30, 2019
    LOXHD12Jan 30, 2019
    LPIN21Mar 13, 2018
    LRATD21Aug 22, 2017
    LRIT31Jan 30, 2019
    LRP12Jan 30, 2019
    LRP23Jan 30, 2019
    LRP61Jan 30, 2019
    LRPPRC1Jan 30, 2019
    LRRC37A23Mar 13, 2018
    LRRC562Aug 22, 2017
    LRRK12Jan 30, 2019
    LRSAM12Aug 22, 2017
    LTBP21Aug 22, 2017
    LTBP41Aug 22, 2017
    LZTR11Aug 22, 2017
    MAGEC11Aug 22, 2017
    MANBA1Mar 13, 2018
    MAP2K23Aug 22, 2017
    MAP3K71Jan 30, 2019
    MARS12Mar 13, 2018
    MASP21Aug 22, 2017
    MATR31Aug 22, 2017
    MAVS1Mar 13, 2018
    MBD52Nov 17, 2017
    MBL21Aug 22, 2017
    MCCC11Aug 22, 2017
    MCCC21Aug 22, 2017
    MDN12Aug 22, 2017
    MECR2Jan 30, 2019
    MED13L1Aug 22, 2017
    MED232Mar 13, 2018
    MEF2C4Jan 30, 2019
    MEFV1Aug 22, 2017
    MEIS21Aug 22, 2017
    MEN11Jan 30, 2019
    MFN11Jan 30, 2019
    MGME11Mar 13, 2018
    MITD11Mar 13, 2018
    MITF1Mar 13, 2018
    MLH12Jan 30, 2019
    MMACHC1Jan 30, 2019
    MORC21Jan 30, 2019
    MPDU11Jan 30, 2019
    MPI1Mar 13, 2018
    MPO2Aug 22, 2017
    MPP61Aug 22, 2017
    MPST1Jan 30, 2019
    MPV17L21Mar 13, 2018
    MPZ2Jan 30, 2019
    MRPL31Aug 22, 2017
    MRPL442Mar 13, 2018
    MRPS121Mar 13, 2018
    MRPS301Mar 13, 2018
    MSH26Jan 30, 2019
    MSH31Mar 13, 2018
    MSH62Jan 30, 2019
    MSL21Aug 22, 2017
    MSRB32Mar 13, 2018
    MT-ATP65Mar 13, 2018
    MT-CO11Aug 22, 2017
    MT-CO31Aug 22, 2017
    MT-CYB2Aug 22, 2017
    MT-ND11Mar 13, 2018
    MT-ND22Mar 13, 2018
    MT-ND42Jan 30, 2019
    MT-ND61Aug 22, 2017
    MT-RNR12Aug 22, 2017
    MT-RNR21Aug 22, 2017
    MT-TE1Mar 13, 2018
    MT-TG1Aug 22, 2017
    MT-TH1Aug 22, 2017
    MT-TL21Jan 30, 2019
    MT-TT1Aug 22, 2017
    MT-TV1Jan 30, 2019
    MT-TW1Aug 22, 2017
    MT-TY1Aug 22, 2017
    MTFMT1Aug 22, 2017
    MTHFD2L1Jan 30, 2019
    MUTYH1Mar 13, 2018
    MXRA51Jan 30, 2019
    MYBPC37Jan 30, 2019
    MYH112Jan 30, 2019
    MYH21Mar 13, 2018
    MYH71Mar 13, 2018
    MYH93Jan 30, 2019
    MYHAS1Mar 13, 2018
    MYL101Jan 30, 2019
    MYLK1Aug 22, 2017
    MYO3B1Aug 22, 2017
    MYO7A2Jan 30, 2019
    MYOM11Aug 22, 2017
    NAGS4Aug 22, 2017
    NARS21Aug 22, 2017
    NBN1Aug 22, 2017
    NCOA41Jan 30, 2019
    NDUFA11Aug 22, 2017
    NDUFAF71Jan 30, 2019
    NDUFS41Aug 22, 2017
    NDUFV11Mar 13, 2018
    NEB1Aug 22, 2017
    NECTIN41Aug 22, 2017
    NEFH1Aug 22, 2017
    NEXMIF1Jan 30, 2019
    NF12Jan 30, 2019
    NFIA1Jan 30, 2019
    NKAIN21Jan 30, 2019
    NLRP121Aug 22, 2017
    NLRP31Aug 22, 2017
    NMI1Mar 13, 2018
    NODAL1Mar 13, 2018
    NOTCH13Jan 30, 2019
    NOXA11Aug 22, 2017
    NPC11Aug 22, 2017
    NPC21Mar 13, 2018
    NRAS1Mar 13, 2018
    NRL1Aug 22, 2017
    NRN1L1Mar 13, 2018
    NRXN11Aug 22, 2017
    NRXN21Jan 30, 2019
    NSF1Mar 13, 2018
    NTRK11Aug 22, 2017
    NUBPL1Mar 13, 2018
    OCA22Mar 13, 2018
    OPA13Mar 13, 2018
    OPA31Mar 13, 2018
    OR6K21Aug 22, 2017
    ORC11Aug 22, 2017
    OTOG1Aug 22, 2017
    OTOGL3Jan 30, 2019
    P2RX71Nov 17, 2017
    PACS11Jan 30, 2019
    PAFAH1B11Mar 13, 2018
    PAH3Mar 13, 2018
    PALB22Mar 13, 2018
    PAM161Mar 13, 2018
    PAX21Mar 13, 2018
    PAX62Mar 13, 2018
    PC1Aug 22, 2017
    PCCB1Mar 13, 2018
    PCK21Aug 22, 2017
    PCNT1Mar 13, 2018
    PDE6B2Jan 30, 2019
    PDHX1Nov 17, 2017
    PDLIM31Aug 22, 2017
    PEX11Aug 22, 2017
    PEX161Jan 30, 2019
    PEX61Mar 13, 2018
    PFKM3Mar 13, 2018
    PGAM21Aug 22, 2017
    PGM11Aug 22, 2017
    PHEX1Aug 22, 2017
    PHF81Aug 22, 2017
    PHIP2Jan 30, 2019
    PHKA21Nov 17, 2017
    PIGO2Mar 13, 2018
    PIGT3Mar 13, 2018
    PIK3R11Mar 13, 2018
    PIK3R21Jan 30, 2019
    PINK11Aug 22, 2017
    PITRM11Jan 30, 2019
    PKD12Jan 30, 2019
    PKD21Jan 30, 2019
    PKHD15Jan 30, 2019
    PLEC2Aug 22, 2017
    PLEKHG51Jan 30, 2019
    PLXNA31Mar 13, 2018
    PLXNB31Mar 13, 2018
    PMP221Jan 30, 2019
    PMS26Jan 30, 2019
    PNPT11Jan 30, 2019
    POLD12Mar 13, 2018
    POLE2Mar 13, 2018
    POLG8Jan 30, 2019
    POMT23Jan 30, 2019
    POU1F11Mar 13, 2018
    PPA21Jan 30, 2019
    PPM1D1Aug 22, 2017
    PPOX1Aug 22, 2017
    PPP2R1A1Jan 30, 2019
    PPT11Jan 30, 2019
    PRB21Aug 22, 2017
    PRICKLE11Mar 13, 2018
    PRKAR1A1Aug 22, 2017
    PRKG11Jan 30, 2019
    PRMT72Mar 13, 2018
    PROM12Jan 30, 2019
    PRPH22Jan 30, 2019
    PRR5-ARHGAP81Jan 30, 2019
    PRSS121Aug 22, 2017
    PRSS331Aug 22, 2017
    PRUNE21Aug 22, 2017
    PTRH11Mar 13, 2018
    PTRH21Jan 30, 2019
    PUF601Mar 13, 2018
    PYGM3Aug 22, 2017
    PYY4Aug 22, 2017
    QRFPR1Aug 22, 2017
    RAB11FIP51Aug 22, 2017
    RAD51D1Jan 30, 2019
    RAD51L3-RFFL1Jan 30, 2019
    RDH51Jan 30, 2019
    RECQL41Jan 30, 2019
    RELN1Mar 13, 2018
    RET1Aug 22, 2017
    RGPD41Mar 13, 2018
    RHO1Aug 22, 2017
    RHOT11Jan 30, 2019
    RIF11Aug 22, 2017
    RMND11Aug 22, 2017
    ROCK21Mar 13, 2018
    ROR21Aug 22, 2017
    RP1L11Jan 30, 2019
    RPL36A-HNRNPH23Mar 13, 2018
    RPS231Aug 22, 2017
    RSPH4A1Aug 22, 2017
    RTEL11Mar 13, 2018
    RTEL1-TNFRSF6B1Mar 13, 2018
    RUSC1-AS11Jan 30, 2019
    RYR15Aug 22, 2017
    RYR21Aug 22, 2017
    RYR32Jan 30, 2019
    SACS2Mar 13, 2018
    SARS22Mar 13, 2018
    SATB21Mar 13, 2018
    SCN10A1Aug 22, 2017
    SCN1A2Nov 17, 2017
    SCN1B2Mar 13, 2018
    SCN2A3Jan 30, 2019
    SCN3A1Aug 22, 2017
    SCN4A1Aug 22, 2017
    SCN5A3Jan 30, 2019
    SCN8A2Nov 17, 2017
    SCO12Aug 22, 2017
    SCP21Mar 13, 2018
    SDHA1Aug 22, 2017
    SDHB1Mar 13, 2018
    SDHD1Aug 22, 2017
    SDK11Nov 17, 2017
    SDSL1Mar 13, 2018
    SERPINA11Aug 22, 2017
    SETBP12Aug 22, 2017
    SHANK21Mar 13, 2018
    SHANK32Jan 30, 2019
    SIX51Jan 30, 2019
    SLC12A61Aug 22, 2017
    SLC19A21Aug 22, 2017
    SLC22A51Mar 13, 2018
    SLC25A121Mar 13, 2018
    SLC26A41Aug 22, 2017
    SLC27A41Jan 30, 2019
    SLC2A12Mar 13, 2018
    SLC4A12Mar 13, 2018
    SLC6A13Jan 30, 2019
    SLC6A21Aug 22, 2017
    SLC6A81Mar 13, 2018
    SMAD32Jan 30, 2019
    SMCHD11Aug 22, 2017
    SMS1Aug 22, 2017
    SNED11Aug 22, 2017
    SNHG141Aug 22, 2017
    SON1Aug 22, 2017
    SOS21Mar 13, 2018
    SP1101Mar 13, 2018
    SP1401Mar 13, 2018
    SPAST5Jan 30, 2019
    SPG111Aug 22, 2017
    SPG73Mar 13, 2018
    SPI11Mar 13, 2018
    SPINK11Aug 22, 2017
    SPINK51Mar 13, 2018
    SPTBN22Mar 13, 2018
    SPTLC21Aug 22, 2017
    SQSTM11Aug 22, 2017
    SRFBP11Jan 30, 2019
    SRPK31Aug 22, 2017
    SSH31Jan 30, 2019
    STAG11Mar 13, 2018
    STAT12Jan 30, 2019
    STK112Aug 22, 2017
    STRA61Aug 22, 2017
    STT3B1Mar 13, 2018
    STX111Aug 22, 2017
    STX1B1Mar 13, 2018
    STXBP14Aug 22, 2017
    SUCLG22Jan 30, 2019
    SURF11Mar 13, 2018
    SYNE11Jan 30, 2019
    SYT121Aug 22, 2017
    SYT41Mar 13, 2018
    SZT21Aug 22, 2017
    TALDO11Jan 30, 2019
    TANGO21Aug 22, 2017
    TAOK11Aug 22, 2017
    TBC1D241Mar 13, 2018
    TBR11Aug 22, 2017
    TCAP1Jan 30, 2019
    TCF122Jan 30, 2019
    TCIRG11Aug 22, 2017
    TCOF11Mar 13, 2018
    TCP102Aug 22, 2017
    TECPR21Mar 13, 2018
    TECTA1Mar 13, 2018
    TERT2Aug 22, 2017
    TFG1Jan 30, 2019
    TG1Jan 30, 2019
    TGFB21Aug 22, 2017
    TGFBR22Aug 22, 2017
    TH1Mar 13, 2018
    THG1L1Aug 22, 2017
    TJP21Mar 13, 2018
    TKT1Mar 13, 2018
    TLK21Jan 30, 2019
    TMLHE1Jan 30, 2019
    TNFRSF13B1Mar 13, 2018
    TNFRSF1A1Mar 13, 2018
    TNRC6B1Aug 22, 2017
    TNXB1Aug 22, 2017
    TOPORS1Jan 30, 2019
    TPO1Mar 13, 2018
    TPP13Mar 13, 2018
    TRAPPC91Mar 13, 2018
    TRIM41Aug 22, 2017
    TRIOBP1Aug 22, 2017
    TRMU1Aug 22, 2017
    TRNT11Nov 17, 2017
    TRPM31Mar 13, 2018
    TRPV41Jan 30, 2019
    TSC11Jan 30, 2019
    TSC22Aug 22, 2017
    TSPEAR2Jan 30, 2019
    TSPEAR-AS11Jan 30, 2019
    TSTD31Aug 22, 2017
    TTC21B1Aug 22, 2017
    TTN14Jan 30, 2019
    TTN-AS16Jan 30, 2019
    TUBA1A1Mar 13, 2018
    UBE2A1Aug 22, 2017
    UBE3A1Aug 22, 2017
    UBR31Jan 30, 2019
    UBTF1Jan 30, 2019
    UGT1A1Mar 13, 2018
    UGT1A101Mar 13, 2018
    UGT1A51Mar 13, 2018
    UGT1A61Mar 13, 2018
    UGT1A71Mar 13, 2018
    UGT1A81Mar 13, 2018
    UGT1A91Mar 13, 2018
    UNC802Aug 22, 2017
    USP11Aug 22, 2017
    USP451Aug 22, 2017
    USP71Aug 22, 2017
    USP81Aug 22, 2017
    USP9X1Aug 22, 2017
    VARS21Mar 13, 2018
    VCL1Mar 13, 2018
    VPS13B4Mar 13, 2018
    VRK11Mar 13, 2018
    WDR371Aug 22, 2017
    WDR452Jan 30, 2019
    WDR811Jan 30, 2019
    WFS12Mar 13, 2018
    WWOX1Jan 30, 2019
    ZBTB201Jan 30, 2019
    ZC4H21Mar 13, 2018
    ZFHX42Aug 22, 2017
    ZFP36L21Mar 13, 2018
    ZIC51Mar 13, 2018
    ZMYND111Aug 22, 2017
    ZNF2271Aug 22, 2017
    ZNF2921Mar 13, 2018
    ZNF3352Mar 13, 2018
    ZNF4692Jan 30, 2019
    ZNF5952Aug 22, 2017
    ZNF8141Aug 22, 2017
    ZNF8441Jan 30, 2019
    ZSCAN251Mar 13, 2018
    ZSWIM62Jan 30, 2019

    Condition

    NameSubmissionsLast Updated
    15q13.3 microdeletion syndrome1Aug 22, 2017
    1q21.1 recurrent microdeletion1Jan 30, 2019
    2-aminoadipic 2-oxoadipic aciduria1Mar 13, 2018
    3 Methylcrotonyl-CoA carboxylase 1 deficiency1Aug 22, 2017
    3-Methylglutaconic aciduria type 31Mar 13, 2018
    3-methylcrotonyl CoA carboxylase 2 deficiency1Aug 22, 2017
    ABCB4-related disorders1Mar 13, 2018
    ABCD syndrome1Mar 13, 2018
    ACO2-related disorder1Aug 22, 2017
    ACO2-related disorders1Aug 22, 2017
    ACTG2-Related Disorder1Jan 30, 2019
    ATRX-Related Disorder1Aug 22, 2017
    Achondroplasia1Mar 13, 2018
    Acromelic frontonasal dysostosis2Jan 30, 2019
    Acute Porphyria2Aug 22, 2017
    Acute myeloid leukemia2Mar 13, 2018
    Acute neuronopathic Gaucher's disease1Jan 30, 2019
    Adams-Oliver syndrome 21Mar 13, 2018
    Adams-Oliver syndrome 52Jan 30, 2019
    Agammaglobulinemia 7, autosomal recessive1Mar 13, 2018
    Alpha-1-antitrypsin deficiency1Aug 22, 2017
    Alpha-thalassemia and related diseases1Mar 13, 2018
    Alport syndrome 1, X-linked recessive1Jan 30, 2019
    Alstrom syndrome2Jan 30, 2019
    Andermann syndrome1Aug 22, 2017
    Angelman syndrome1Aug 22, 2017
    Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Mar 13, 2018
    Anterior segment mesenchymal dysgenesis1Jan 30, 2019
    Aortic aneurysm, familial thoracic 41Jan 30, 2019
    Aortic aneurysm, familial thoracic 71Aug 22, 2017
    Aortic aneurysm, familial thoracic 81Jan 30, 2019
    Aortic valve disorder2Jan 30, 2019
    Arginase deficiency1Mar 13, 2018
    Ataxia-telangiectasia syndrome2Jan 30, 2019
    Atrial fibrillation, familial, 121Nov 17, 2017
    Autism spectrum disorder1Mar 13, 2018
    Autism, susceptibility to, 181Mar 13, 2018
    Autism, susceptibility to, X-linked 61Jan 30, 2019
    Autosomal dominant familial acute myeloid leukemia1Aug 22, 2017
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12Mar 13, 2018
    Autosomal dominant retinitis pigmentosa2Jan 30, 2019
    Autosomal recessive centronuclear myopathy1Mar 13, 2018
    Autosomal recessive polycystic kidney disease5Jan 30, 2019
    BRWD3-Related Disorder1Jan 30, 2019
    Bainbridge-Ropers syndrome2Aug 22, 2017
    Barakat syndrome1Mar 13, 2018
    Bardet-Biedl syndrome1Aug 22, 2017
    Bardet-Biedl syndrome 201Jan 30, 2019
    Becker muscular dystrophy3Aug 22, 2017
    Benign familial neonatal-infantile seizures1Mar 13, 2018
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy2Jan 30, 2019
    Bernard Soulier syndrome2Mar 13, 2018
    Bernard-Soulier syndrome, type A2, autosomal dominant1Mar 13, 2018
    Beta-D-mannosidosis1Mar 13, 2018
    Beta-thalassemia, dominant inclusion body type1Mar 13, 2018
    Bethlem myopathy 12Mar 13, 2018
    Bifunctional peroxisomal enzyme deficiency1Aug 22, 2017
    Biotinidase deficiency1Aug 22, 2017
    Brain small vessel disease with hemorrhage1Mar 13, 2018
    Breast cancer, susceptibility to1Jan 30, 2019
    Breast-ovarian cancer, familial 21Jan 30, 2019
    Brugada syndrome3Aug 22, 2017
    CACNA1A-Related Disorder1Jan 30, 2019
    CACNA1C-Related Disorder1Jan 30, 2019
    CACNA1G-related disorders1Aug 22, 2017
    CACNA1H-related disorder1Nov 17, 2017
    CASK-Related Disorder2Jan 30, 2019
    CEP290-related ciliopathies1Aug 22, 2017
    CHARGE association1Aug 22, 2017
    CHD2-Related Disorder1Jan 30, 2019
    CHD3-Related Disorder1Jan 30, 2019
    CHD8-Related Disorders1Mar 13, 2018
    CLCN4-related disorder1Aug 22, 2017
    CLTC-Related Disorder1Jan 30, 2019
    COL11A2- Related Disorder1Jan 30, 2019
    COL1A2-Related Disorder3Jan 30, 2019
    COL2A1-Related Disorder1Mar 13, 2018
    COL3A1-Related Disorder1Jan 30, 2019
    COL4A1-Related Disorder1Aug 22, 2017
    COL6A1-related Disorder1Aug 22, 2017
    COLON CANCER, SUSCEPTIBILITY TO1Jan 30, 2019
    CSNK2A1- Related Disorders1Aug 22, 2017
    Camptodactyly, tall stature, and hearing loss syndrome1Mar 13, 2018
    Cardiac arrhythmia1Aug 22, 2017
    Cardiac arrhythmia, ankyrin B-related1Jan 30, 2019
    Cardiac valvular dysplasia, X-linked1Aug 22, 2017
    Cardiomyopathy2Dec 15, 2017
    Carney complex1Aug 22, 2017
    Carnitine palmitoyltransferase II deficiency1Aug 22, 2017
    Catecholaminergic polymorphic ventricular tachycardia type 11Aug 22, 2017
    Centronuclear myopathy1Aug 22, 2017
    Cerebellar ataxia infantile with progressive external ophthalmoplegia2Mar 13, 2018
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21Jan 30, 2019
    Cerebrooculofacioskeletal syndrome 21Aug 22, 2017
    Ceroid lipofuscinosis neuronal 11Jan 30, 2019
    Ceroid lipofuscinosis neuronal 23Mar 13, 2018
    Ceroid lipofuscinosis neuronal 81Aug 22, 2017
    Charcot-Marie-Tooth disease and deafness1Jan 30, 2019
    Charcot-Marie-Tooth disease type 2B12Jan 30, 2019
    Charcot-Marie-Tooth disease type 2C1Jan 30, 2019
    Charcot-Marie-Tooth disease type 2D1Aug 22, 2017
    Charcot-Marie-Tooth disease type 2J1Jan 30, 2019
    Charcot-Marie-Tooth disease type 2P2Aug 22, 2017
    Charcot-Marie-Tooth disease, axonal, type 2Q1Mar 13, 2018
    Charcot-Marie-Tooth disease, axonal, type 2z1Jan 30, 2019
    Charcot-Marie-Tooth disease, demyelinating, type 1b2Jan 30, 2019
    Charcot-Marie-Tooth disease, recessive intermediate c1Jan 30, 2019
    Charcot-Marie-Tooth disease, type 2L1Mar 13, 2018
    Charcot-Marie-Tooth disease, type 2N1Aug 22, 2017
    Charcot-Marie-Tooth disease, type 4k1Mar 13, 2018
    Charcot-Marie-Tooth disease, type IA1Jan 30, 2019
    Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1Mar 13, 2018
    Chromosome 16p13.3 deletion syndrome, proximal1Jan 30, 2019
    Chromosome 2q23.1 deletion syndrome2Jan 30, 2019
    Chromosome Xp21 deletion syndrome1Jan 30, 2019
    Chromosome Xq28 deletion syndrome1Aug 22, 2017
    Chronic infantile neurological, cutaneous and articular syndrome1Aug 22, 2017
    Ciliary dyskinesia, primary, 111Aug 22, 2017
    Ciliary dyskinesia, primary, 341Mar 13, 2018
    Citrullinemia type I1Aug 22, 2017
    Coffin-Siris syndrome1Aug 22, 2017
    Cohen syndrome4Mar 13, 2018
    Collagen VI-related myopathy2Mar 13, 2018
    Combined oxidative phosphorylation deficiency 111Aug 22, 2017
    Combined oxidative phosphorylation deficiency 122Aug 22, 2017
    Combined oxidative phosphorylation deficiency 131Jan 30, 2019
    Combined oxidative phosphorylation deficiency 151Aug 22, 2017
    Combined oxidative phosphorylation deficiency 161Mar 13, 2018
    Combined oxidative phosphorylation deficiency 201Mar 13, 2018
    Combined oxidative phosphorylation deficiency 241Aug 22, 2017
    Combined oxidative phosphorylation deficiency 271Mar 13, 2018
    Combined oxidative phosphorylation deficiency 91Aug 22, 2017
    Common variable immunodeficiency 21Mar 13, 2018
    Cone-rod dystrophy1Jan 30, 2019
    Congenital aneurysm of ascending aorta1Jan 30, 2019
    Congenital aniridia1Mar 13, 2018
    Congenital disorder of glycosylation type 1B1Mar 13, 2018
    Congenital disorder of glycosylation type 1F1Jan 30, 2019
    Congenital disorder of glycosylation type 1J1Jan 30, 2019
    Congenital disorder of glycosylation type 1t1Aug 22, 2017
    Congenital disorder of glycosylation type 1x1Mar 13, 2018
    Congenital disorder of glycosylation type 2L1Mar 13, 2018
    Congenital disorder of glycosylation type Ir2Mar 13, 2018
    Congenital fiber-type disproportion1Aug 22, 2017
    Congenital hyperammonemia, type I1Mar 13, 2018
    Congenital hypomyelinating neuropathy1Jan 30, 2019
    Congenital hypothyroidism1Jan 30, 2019
    Congenital muscular dystrophy, LMNA-related2Jan 30, 2019
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A23Jan 30, 2019
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B23Jan 30, 2019
    Congenital myasthenic syndrome 131Jan 30, 2019
    Congenital primary aphakia1Jan 30, 2019
    Congenital stationary night blindness1Aug 22, 2017
    Congenital stationary night blindness, type 1F1Jan 30, 2019
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility2Jan 30, 2019
    Coronary artery disease1Jan 30, 2019
    Cowden syndrome 11Mar 13, 2018
    Craniosynostosis 31Jan 30, 2019
    Creatine deficiency, X-linked1Mar 13, 2018
    Crouzon syndrome with acanthosis nigricans1Mar 13, 2018
    Cutis Laxa Syndrome1Aug 22, 2017
    Cutis laxa, autosomal dominant 11Mar 13, 2018
    Cutis laxa, autosomal dominant 31Aug 22, 2017
    Cutis laxa-corneal clouding-oligophrenia syndrome1Aug 22, 2017
    Cystic fibrosis2Jan 30, 2019
    DCTN1-Related Disorder2Jan 30, 2019
    DDX3X-Related Disorder1Aug 22, 2017
    DEAFNESS, AUTOSOMAL RECESSIVE 1061Jan 30, 2019
    DEPDC5-Related Disorder2Aug 22, 2017
    DNMT1-Related Disorder1Aug 22, 2017
    DYNC1H1-related disorders1Aug 22, 2017
    DYSF- Related Disorder1Aug 22, 2017
    Deafness3Aug 22, 2017
    Deafness, autosomal dominant 111Jan 30, 2019
    Deafness, autosomal dominant 132Jan 30, 2019
    Deafness, autosomal dominant nonsyndromic sensorineural 171Aug 22, 2017
    Deafness, autosomal recessive 122Jan 30, 2019
    Deafness, autosomal recessive 21Jan 30, 2019
    Deafness, autosomal recessive 532Jan 30, 2019
    Deafness, autosomal recessive 701Jan 30, 2019
    Deafness, autosomal recessive 772Jan 30, 2019
    Deafness, autosomal recessive 84b2Jan 30, 2019
    Deafness, autosomal recessive 981Jan 30, 2019
    Deficiency of butyryl-CoA dehydrogenase3Aug 22, 2017
    Deficiency of butyrylcholine esterase2Aug 22, 2017
    Deficiency of iodide peroxidase1Mar 13, 2018
    Deficiency of isobutyryl-CoA dehydrogenase1Aug 22, 2017
    Deficiency of steroid 17-alpha-monooxygenase2Mar 13, 2018
    Deficiency of transaldolase1Jan 30, 2019
    Dejerine-Sottas disease2Jan 30, 2019
    Desmoid disease, hereditary1Mar 13, 2018
    Diabetes mellitus AND insipidus with optic atrophy AND deafness3Mar 13, 2018
    Diabetes mellitus type 21Aug 22, 2017
    Dihydropyrimidine dehydrogenase deficiency1Mar 13, 2018
    Dilatation of the thoracic aorta1Aug 22, 2017
    Dilated cardiomyopathy1Jan 30, 2019
    Dilated cardiomyopathy 1A3Jan 30, 2019
    Dilated cardiomyopathy 1G4Mar 13, 2018
    Dilated cardiomyopathy 1GG1Aug 22, 2017
    Dilated cardiomyopathy 1N1Jan 30, 2019
    Dilated cardiomyopathy 1O1Nov 17, 2017
    Dilated cardiomyopathy 1W1Mar 13, 2018
    Dilated cardiomyopathy 3B1Aug 22, 2017
    Distal hereditary motor neuronopathy type 51Aug 22, 2017
    Distal myopathy Markesbery-Griggs type6Mar 13, 2018
    Distal spinal muscular atrophy, autosomal recessive 41Jan 30, 2019
    Dominant hereditary optic atrophy2Mar 13, 2018
    Donnai Barrow syndrome3Jan 30, 2019
    Duane syndrome type 11Mar 13, 2018
    Duchenne muscular dystrophy3Jan 30, 2019
    Dysferlinopathy1Aug 22, 2017
    Dystonia 91Aug 22, 2017
    Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Jan 30, 2019
    Dystonia, primary cervical1Mar 13, 2018
    ELP2-Related Disorders2Aug 22, 2017
    EMC1-Related Disorder2Jan 30, 2019
    Early infantile epileptic encephalopathy 111Mar 13, 2018
    Early infantile epileptic encephalopathy 182Aug 22, 2017
    Early onset epileptic encephalopathy2Aug 22, 2017
    Ectodermal dysplasia-syndactyly syndrome 11Aug 22, 2017
    Ectopia lentis1Jan 30, 2019
    Ehlers-Danlos syndrome1Aug 22, 2017
    Ehlers-Danlos syndrome progeroid type3Jan 30, 2019
    Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form1Mar 13, 2018
    Ehlers-Danlos syndrome, classic type7Jan 30, 2019
    Ehlers-Danlos syndrome, musculocontractural type1Aug 22, 2017
    Ehlers-Danlos syndrome, procollagen proteinase deficient2Jan 30, 2019
    Ehlers-Danlos syndrome, type 32Jan 30, 2019
    Ehlers-Danlos syndrome, type 46Jan 30, 2019
    Elliptocytosis 11Mar 13, 2018
    Emery-Dreifuss muscular dystrophy 3, autosomal recessive1Jan 30, 2019
    Endometrial carcinoma1Mar 13, 2018
    Epidermolysa bullosa simplex and limb girdle muscular dystrophy1Aug 22, 2017
    Epidermolysis bullosa simplex with pyloric atresia1Aug 22, 2017
    Epidermolysis bullosa simplex, Ogna type1Aug 22, 2017
    Epilepsy, childhood absence 62Jan 30, 2019
    Epilepsy, familial temporal lobe, 71Mar 13, 2018
    Epilepsy, idiopathic generalized, susceptibility to, 121Aug 22, 2017
    Epilepsy, nocturnal frontal lobe, type 11Jan 30, 2019
    Epileptic encephalopathy, childhood-onset1Mar 13, 2018
    Epileptic encephalopathy, early infantile, 331Jan 30, 2019
    Episodic ataxia type 11Mar 13, 2018
    Episodic ataxia type 21Jan 30, 2019
    Essential hypertension1Mar 13, 2018
    Ethylmalonic encephalopathy1Aug 22, 2017
    FBN1-Related Disorders1Jan 30, 2019
    FG syndrome 21Aug 22, 2017
    FKRP-Related Disorder1Jan 30, 2019
    FLG-Related Disorder1Mar 13, 2018
    FLNA-related disorder1Aug 22, 2017
    FLNB-Related Disorder1Aug 22, 2017
    Fabry disease3Mar 13, 2018
    Facioscapulohumeral muscular dystrophy 21Aug 22, 2017
    Familial Mediterranean fever1Aug 22, 2017
    Familial adenomatous polyposis 12Mar 13, 2018
    Familial adenomatous polyposis 41Mar 13, 2018
    Familial amyloid nephropathy with urticaria AND deafness1Aug 22, 2017
    Familial cancer of breast1Jan 30, 2019
    Familial cardiomyopathy1Aug 22, 2017
    Familial cold urticaria1Aug 22, 2017
    Familial exudative vitreoretinopathy1Aug 22, 2017
    Familial hemiplegic migraine type 11Jan 30, 2019
    Familial hemophagocytic lymphohistiocytosis1Aug 22, 2017
    Familial hypercholesterolemia2Mar 13, 2018
    Familial hypertrophic cardiomyopathy 151Mar 13, 2018
    Familial hypertrophic cardiomyopathy 42Aug 22, 2017
    Familial hypertrophic cardiomyopathy 94Mar 13, 2018
    Familial infantile myasthenia1Mar 13, 2018
    Familial medullary thyroid carcinoma1Aug 22, 2017
    Familial thoracic aortic aneurysm3Jan 30, 2019
    Fanconi anemia1Aug 22, 2017
    Fanconi anemia, complementation group D11Aug 22, 2017
    Fanconi anemia, complementation group M1Mar 13, 2018
    Farber disease1Mar 13, 2018
    Fetal hemoglobin quantitative trait locus 11Mar 13, 2018
    Fibrochondrogenesis 22Jan 30, 2019
    Focal segmental glomerulosclerosis 81Jan 30, 2019
    Frontometaphyseal dysplasia1Aug 22, 2017
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 21Mar 13, 2018
    Fructose-biphosphatase deficiency1Aug 22, 2017
    Fundus albipunctatus, autosomal recessive1Jan 30, 2019
    GABRA6-Related Disorder1Aug 22, 2017
    GABRG2-Related Disorder1Aug 22, 2017
    GATAD2B-Related Disorder2Jan 30, 2019
    GLUT1 deficiency syndrome 11Aug 22, 2017
    GLUT1 deficiency syndrome 22Mar 13, 2018
    GRIA3-Related Disorder1Aug 22, 2017
    GRIN1-Related Disorder2Jan 30, 2019
    GRIN2B-Related Disorder1Jan 30, 2019
    Gamma-aminobutyric acid transaminase deficiency1Aug 22, 2017
    Gastrointestinal stroma tumor1Mar 13, 2018
    Gaucher disease1Aug 22, 2017
    Gaucher disease type 3C1Jan 30, 2019
    Gaucher disease, perinatal lethal1Jan 30, 2019
    Gaucher's disease, type 11Jan 30, 2019
    Gillespie syndrome1Mar 13, 2018
    Glaucoma 3, primary congenital, A1Mar 13, 2018
    Glomerulopathy with fibronectin deposits 21Mar 13, 2018
    Glomuvenous malformations1Mar 13, 2018
    Glucose 6 phosphate dehydrogenase deficiency1Mar 13, 2018
    Glycogen storage disease 0, muscle1Mar 13, 2018
    Glycogen storage disease type 131Aug 22, 2017
    Glycogen storage disease type III1Aug 22, 2017
    Glycogen storage disease type IXa11Nov 17, 2017
    Glycogen storage disease type X1Aug 22, 2017
    Glycogen storage disease, type IV2Mar 13, 2018
    Glycogen storage disease, type V1Aug 22, 2017
    Glycogen storage disease, type VII1Mar 13, 2018
    Gnathodiaphyseal dysplasia3Mar 13, 2018
    Guillain-Barre syndrome, familial1Jan 30, 2019
    HIVEP2-Related Disorder1Aug 22, 2017
    HSD17B10-Related Disorder1Aug 22, 2017
    HSPB1-Related Disorder1Aug 22, 2017
    HUWE1-Related Disorder1Mar 13, 2018
    Hb SS disease1Mar 13, 2018
    Hearing loss3Aug 22, 2017
    Hemiplegia-hemiconvulsion-epilepsy syndrome1Jan 30, 2019
    Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency3Aug 22, 2017
    Hepatic venoocclusive disease with immunodeficiency1Mar 13, 2018
    Hereditary Paraganglioma-Pheochromocytoma Syndromes1Aug 22, 2017
    Hereditary breast and ovarian cancer syndrome4Mar 13, 2018
    Hereditary cancer5Aug 22, 2017
    Hereditary fructosuria1Mar 13, 2018
    Hereditary hemochromatosis2Jan 30, 2019
    Hereditary insensitivity to pain with anhidrosis1Aug 22, 2017
    Hereditary liability to pressure palsies1Jan 30, 2019
    Hereditary myopathy with early respiratory failure6Jan 30, 2019
    Hereditary nonpolyposis colon cancer1Aug 22, 2017
    Hereditary nonpolyposis colorectal cancer type 51Jan 30, 2019
    Hereditary pancreatitis1Aug 22, 2017
    Hereditary sensory and autonomic neuropathy type IC1Aug 22, 2017
    Hereditary sensory and autonomic neuropathy type IIC1Aug 22, 2017
    Heterotopia, periventricular, autosomal recessive1Aug 22, 2017
    Hirschsprung disease 21Mar 13, 2018
    Hutchinson-Gilford syndrome2Jan 30, 2019
    Hyperammonemia, type III1Aug 22, 2017
    Hypercholesterolemia, autosomal dominant, type B1Mar 13, 2018
    Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2Mar 13, 2018
    Hyperphosphatasia with mental retardation syndrome 21Mar 13, 2018
    Hypertrophic cardiomyopathy4Jan 30, 2019
    Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis2Mar 13, 2018
    Hypobetalipoproteinemia, familial, 11Mar 13, 2018
    Hypocalciuric hypercalcemia, familial, type 11Jan 30, 2019
    Hypochondroplasia1Mar 13, 2018
    Hypomyelination, global cerebral1Mar 13, 2018
    Hypophosphatasia1Mar 13, 2018
    Hypophosphatemia1Jan 30, 2019
    Hypotonia, ataxia, and delayed development syndrome1Jan 30, 2019
    Hypotrichosis 61Mar 13, 2018
    IGF1R-Related Disorder1Jan 30, 2019
    IL1RAPL1-Related Disorder1Aug 22, 2017
    ISPD-Related Disorder1Jan 30, 2019
    Ichthyosis prematurity syndrome1Jan 30, 2019
    Ichthyosis vulgaris2Jan 30, 2019
    Immunodeficiency 31C1Jan 30, 2019
    Immunodeficiency 31a1Jan 30, 2019
    Immunodeficiency 361Mar 13, 2018
    Infantile encephalopathy2Aug 22, 2017
    Intellectual developmental disorder with cardiac arrhythmia2Mar 13, 2018
    Intellectual disability4Mar 13, 2018
    Intellectual disability, non syndromic1Mar 13, 2018
    Irido-corneo-trabecular dysgenesis1Mar 13, 2018
    Jankovic Rivera syndrome1Mar 13, 2018
    Juvenile myoclonic epilepsy2Mar 13, 2018
    KANK1- Related Disorder1Mar 13, 2018
    KBG syndrome2Aug 22, 2017
    Kabuki syndrome 12Aug 22, 2017
    Keppen-Lubinsky syndrome1Mar 13, 2018
    LOX-Related Disorder1Jan 30, 2019
    LTBP2-related Disorder1Aug 22, 2017
    LZTR1-Related Disorder1Aug 22, 2017
    Lamellar cataract1Mar 13, 2018
    Laminin alpha 2-related dystrophy1Mar 13, 2018
    Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia2Mar 13, 2018
    Leber's optic atrophy2Mar 13, 2018
    Leigh syndrome4Mar 13, 2018
    Leigh syndrome, French Canadian type1Jan 30, 2019
    Lethal multiple pterygium syndrome1Aug 22, 2017
    Leukodystrophy, hypomyelinating 31Mar 13, 2018
    Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation3Mar 13, 2018
    Leukoencephalopathy with dystonia and motor neuropathy1Mar 13, 2018
    Leukoencephalopathy with vanishing white matter2Jan 30, 2019
    Levy-Hollister syndrome1Mar 13, 2018
    Lewy body dementia1Jan 30, 2019
    Limb-girdle muscular dystrophy, type 1B1Jan 30, 2019
    Limb-girdle muscular dystrophy, type 2A1Jan 30, 2019
    Limb-girdle muscular dystrophy, type 2B1Jan 30, 2019
    Limb-girdle muscular dystrophy, type 2G1Jan 30, 2019
    Limb-girdle muscular dystrophy, type 2J4Mar 13, 2018
    Limb-girdle muscular dystrophy, type 2L3Mar 13, 2018
    Limb-girdle muscular dystrophy, type 2Q2Aug 22, 2017
    Limb-girdle muscular dystrophy-dystroglycanopathy, type C23Jan 30, 2019
    Lissencephaly 11Mar 13, 2018
    Lissencephaly 21Mar 13, 2018
    Lissencephaly 31Mar 13, 2018
    Liver failure acute infantile1Aug 22, 2017
    Loeys-Dietz syndrome2Aug 22, 2017
    Loeys-Dietz syndrome 31Jan 30, 2019
    Long QT syndrome3Aug 22, 2017
    Long QT syndrome 11Aug 22, 2017
    Lynch syndrome6Jan 30, 2019
    Lynch syndrome II1Mar 13, 2018
    MARS-Related Disorder2Mar 13, 2018
    MASS syndrome1Jan 30, 2019
    MATR3-Related Disorder1Aug 22, 2017
    MEF2C-Related Disorder1Aug 22, 2017
    MEIS2-related disorder1Aug 22, 2017
    METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE2Jan 30, 2019
    MUTYH-associated polyposis1Mar 13, 2018
    MYH2-related myopathy1Mar 13, 2018
    MYH9-related disorder1Jan 30, 2019
    MYO7A-related disorder1Jan 30, 2019
    MYOM1-related disorder1Aug 22, 2017
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Aug 22, 2017
    Macular dystrophy, atypical vitelliform1Aug 22, 2017
    Majeed syndrome1Mar 13, 2018
    Malignant hyperthermia susceptibility1Aug 22, 2017
    Malignant hyperthermia, susceptibility to, 11Aug 22, 2017
    Mannose-binding protein deficiency1Aug 22, 2017
    Marfan syndrome3Jan 30, 2019
    Medium-chain acyl-coenzyme A dehydrogenase deficiency1Mar 13, 2018
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Jan 30, 2019
    Megaloblastic anemia due to inborn errors of metabolism1Aug 22, 2017
    Meier-Gorlin syndrome 11Aug 22, 2017
    Meier-Gorlin syndrome 41Aug 22, 2017
    Melnick-Needles syndrome1Aug 22, 2017
    Mental retardation, X-linked 11Mar 13, 2018
    Mental retardation, X-linked 981Jan 30, 2019
    Mental retardation, autosomal dominant 11Nov 17, 2017
    Mental retardation, autosomal dominant 41Mar 13, 2018
    Mental retardation, autosomal dominant 61Nov 17, 2017
    Mental retardation, autosomal dominant 91Aug 22, 2017
    Mental retardation, autosomal recessive 11Aug 22, 2017
    Mental retardation, autosomal recessive 131Mar 13, 2018
    Mental retardation, autosomal recessive 181Aug 22, 2017
    Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3Jan 30, 2019
    Mental retardation, syndromic, Claes-Jensen type, X-linked1Mar 13, 2018
    Mental retardation-hypotonic facies syndrome X-linked, 11Aug 22, 2017
    Mercaptolactate-cysteine disulfiduria1Jan 30, 2019
    Merosin deficient congenital muscular dystrophy6Jan 30, 2019
    Methylmalonic acidemia with homocystinuria1Jan 30, 2019
    Microcephalic osteodysplastic primordial dwarfism type 21Mar 13, 2018
    Mitochondrial DNA depletion syndrome 111Mar 13, 2018
    Mitochondrial DNA depletion syndrome 4B, MNGIE type2Mar 13, 2018
    Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1Jan 30, 2019
    Mitochondrial DNA-Associated Leigh Syndrome and NARP1Mar 13, 2018
    Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Jan 30, 2019
    Mitochondrial DNA-related disorder3Aug 22, 2017
    Mitochondrial complex I deficiency4Mar 13, 2018
    Mitochondrial-DNA disorder1Mar 13, 2018
    Miyoshi muscular dystrophy 11Jan 30, 2019
    Miyoshi muscular dystrophy 33Mar 13, 2018
    Mucopolysaccharidosis, MPS-IV-B1Mar 13, 2018
    Multiminicore Disease1Aug 22, 2017
    Multiple cutaneous leiomyomas1Aug 22, 2017
    Multiple endocrine neoplasia, type 11Jan 30, 2019
    Multiple endocrine neoplasia, type 2a1Aug 22, 2017
    Multiple epiphyseal dysplasia 21Aug 22, 2017
    Multiple fibrofolliculomas2Aug 22, 2017
    Multiple pterygium syndrome Escobar type1Aug 22, 2017
    Muscle AMP deaminase deficiency1Aug 22, 2017
    Muscular dystrophy2Aug 22, 2017
    Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1Jan 30, 2019
    Mycobacterial and viral infections, susceptibility to, autosomal recessive1Jan 30, 2019
    Mycobacterium tuberculosis, susceptibility to1Mar 13, 2018
    Myeloperoxidase deficiency2Aug 22, 2017
    Myoclonic-atonic epilepsy1Aug 22, 2017
    Myofibrillar myopathy, filamin C-related2Mar 13, 2018
    Myopathy, distal, 41Mar 13, 2018
    Myopathy, distal, with anterior tibial onset1Jan 30, 2019
    Myopathy, early-onset, with fatal cardiomyopathy3Mar 13, 2018
    Myopathy, isolated mitochondrial, autosomal dominant1Mar 13, 2018
    Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1Mar 13, 2018
    NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 81Jan 30, 2019
    NFIA-related disorders1Jan 30, 2019
    NOTCH1-Related Disorders1Mar 13, 2018
    NRXN-Related Disorder1Aug 22, 2017
    Nemaline myopathy1Aug 22, 2017
    Nephrogenic diabetes insipidus1Aug 22, 2017
    Nephrogenic diabetes insipidus, X-linked1Aug 22, 2017
    Nephrogenic syndrome of inappropriate antidiuresis1Aug 22, 2017
    Netherton syndrome1Mar 13, 2018
    Neurodegeneration with brain iron accumulation1Jan 30, 2019
    Neurodegeneration with brain iron accumulation 41Aug 22, 2017
    Neurodegeneration with brain iron accumulation 51Jan 30, 2019
    Neurodegeneration with brain iron accumulation 61Aug 22, 2017
    Neurodevelopmental and congenital anomalies1Jan 30, 2019
    Neurofibromatosis, type 12Jan 30, 2019
    Neuropathy ataxia retinitis pigmentosa syndrome1Mar 13, 2018
    Neuropathy, hereditary motor and sensory, Okinawa type1Jan 30, 2019
    Niemann-Pick disease type C11Aug 22, 2017
    Niemann-Pick disease type C21Mar 13, 2018
    Nonsyndromic Hearing Loss, Recessive1Aug 22, 2017
    Noonan syndrome1Mar 13, 2018
    Noonan syndrome 61Mar 13, 2018
    Optic atrophy1Mar 13, 2018
    Optic atrophy and cataract, autosomal dominant1Mar 13, 2018
    Osteogenesis imperfecta2Jan 30, 2019
    Osteogenesis imperfecta type I1Jan 30, 2019
    Osteogenesis imperfecta, recessive perinatal lethal1Mar 13, 2018
    Osteopetrosis autosomal recessive 11Aug 22, 2017
    Oto-palato-digital syndrome, type I1Aug 22, 2017
    Oto-palato-digital syndrome, type II1Aug 22, 2017
    Otospondylomegaepiphyseal dysplasia2Jan 30, 2019
    PHIP-Related Disorder1Jan 30, 2019
    PHIP-Related disorders1Jan 30, 2019
    PIGT-related disorder3Mar 13, 2018
    PINK1-Related Parkinsonism1Aug 22, 2017
    POLG- Related Disorder1Mar 13, 2018
    POLG- Related Disorders1Mar 13, 2018
    POLG-Related Disorders2Jan 30, 2019
    POLG-Related disorder2Mar 13, 2018
    PPP2R1A-related disorder1Jan 30, 2019
    Pancreatitis1Jan 30, 2019
    Paraganglioma and gastric stromal sarcoma1Mar 13, 2018
    Paragangliomas 41Mar 13, 2018
    Parkinson disease 92Mar 13, 2018
    Parkinson disease, late-onset1Jan 30, 2019
    Periodic fever syndrome1Aug 22, 2017
    Periventricular nodular heterotopia 13Jan 30, 2019
    Peroxisome biogenesis disorder 1A (Zellweger)1Aug 22, 2017
    Peroxisome biogenesis disorder 1B1Aug 22, 2017
    Peroxisome biogenesis disorder 8A1Jan 30, 2019
    Peroxisome biogenesis disorder 8B1Jan 30, 2019
    Peroxisome biogenesis disorders, Zellweger syndrome spectrum1Mar 13, 2018
    Perrault syndrome 11Aug 22, 2017
    Peutz-Jeghers syndrome1Aug 22, 2017
    Phenylketonuria3Mar 13, 2018
    Pheochromocytoma1Mar 13, 2018
    Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1Aug 22, 2017
    Pituitary hormone deficiency, combined 11Mar 13, 2018
    Pituitary hormone deficiency, combined 41Aug 22, 2017
    Plasma fibronectin deficiency1Mar 13, 2018
    Polycystic kidney disease 21Jan 30, 2019
    Polycystic kidney disease, adult type2Jan 30, 2019
    Polycythemia vera1Mar 13, 2018
    Pontocerebellar hypoplasia type 1A1Mar 13, 2018
    Pontocerebellar hypoplasia, type 1c1Mar 13, 2018
    Porencephaly 11Mar 13, 2018
    Poretti-Boltshauser syndrome2Jan 30, 2019
    Primary autosomal recessive microcephaly 102Mar 13, 2018
    Primary autosomal recessive microcephaly 32Mar 13, 2018
    Primary autosomal recessive microcephaly 91Mar 13, 2018
    Primary dilated cardiomyopathy1Aug 22, 2017
    Primary hyperoxaluria, type II1Mar 13, 2018
    Primrose syndrome1Jan 30, 2019
    Progressive sclerosing poliodystrophy2Mar 13, 2018
    Propionyl-CoA carboxylase deficiency1Mar 13, 2018
    Pseudo von Willebrand disease1Mar 13, 2018
    Pseudoxanthoma elasticum2Aug 22, 2017
    Pustular psoriasis, generalized1Aug 22, 2017
    Pyruvate carboxylase deficiency1Aug 22, 2017
    Pyruvate dehydrogenase E3-binding protein deficiency1Nov 17, 2017
    RTEL1-related Disorders1Mar 13, 2018
    RYR1-Related Disorder3Aug 22, 2017
    Radial aplasia-thrombocytopenia syndrome1Mar 13, 2018
    Rasopathy2Aug 22, 2017
    Refractory anemia with ringed sideroblasts (clinical)1Aug 22, 2017
    Renal carnitine transport defect1Mar 13, 2018
    Renal coloboma syndrome1Mar 13, 2018
    Renal tubular acidosis, distal, autosomal dominant1Mar 13, 2018
    Renal tubular acidosis, distal, with hemolytic anemia1Mar 13, 2018
    Retinitis pigmentosa1Jan 30, 2019
    Retinitis pigmentosa 311Jan 30, 2019
    Retinitis pigmentosa 402Jan 30, 2019
    Retinitis pigmentosa 411Jan 30, 2019
    Retinitis pigmentosa 71Jan 30, 2019
    Roussy-Lévy syndrome1Jan 30, 2019
    Rubinstein-Taybi syndrome 11Aug 22, 2017
    SATB2-Related Disorder1Mar 13, 2018
    SCN10A-Related Disorder1Aug 22, 2017
    SCN1B-Related Disorder1Mar 13, 2018
    SCN2A-related disorder1Jan 30, 2019
    SCN3A- Related Disorder1Aug 22, 2017
    SCN4A-related disorder1Aug 22, 2017
    SCN5A-related disorder2Jan 30, 2019
    SCN8A-related disorder1Aug 22, 2017
    SETBP1-Related Disorder1Aug 22, 2017
    SHANK3-Related Disorder2Jan 30, 2019
    SHORT syndrome1Mar 13, 2018
    SLC6A1-Related Disorder2Jan 30, 2019
    SLC6A2-related disorder1Aug 22, 2017
    SMAD3-Related Disorder1Jan 30, 2019
    SMS-Related Disorder1Aug 22, 2017
    SQSTM1-related disorder1Aug 22, 2017
    STAG1-Related Disorders1Mar 13, 2018
    STAT1-Related Disorder1Aug 22, 2017
    STRA6-Related Disorder1Aug 22, 2017
    SUDDEN INFANT DEATH SYNDROME1Aug 22, 2017
    Schizophrenia1Mar 13, 2018
    Schuurs-hoeijmakers syndrome1Jan 30, 2019
    SeSAME syndrome1Jan 30, 2019
    Seckel syndrome 51Mar 13, 2018
    Segawa syndrome, autosomal recessive1Mar 13, 2018
    Seizure disorder1Nov 17, 2017
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Mar 13, 2018
    Severe combined immunodeficiency disease1Aug 22, 2017
    Severe myoclonic epilepsy in infancy2Nov 17, 2017
    Short stature, brachydactyly, intellectual developmental disability, and seizures2Mar 13, 2018
    Short stature, developmental delay, and congenital heart defects1Mar 13, 2018
    Sick sinus syndrome1Aug 22, 2017
    Siderius X-linked mental retardation syndrome1Aug 22, 2017
    Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1Nov 17, 2017
    Sjögren-Larsson syndrome1Jan 30, 2019
    Smith-Lemli-Opitz syndrome2Jan 30, 2019
    Spastic ataxia Charlevoix-Saguenay type2Mar 13, 2018
    Spastic paraplegia 11, autosomal recessive1Aug 22, 2017
    Spastic paraplegia 30, autosomal recessive1Aug 22, 2017
    Spastic paraplegia 4, autosomal dominant4Mar 13, 2018
    Spastic paraplegia 43, autosomal recessive1Aug 22, 2017
    Spastic paraplegia 44, autosomal recessive1Aug 22, 2017
    Spastic paraplegia 46, autosomal recessive1Aug 22, 2017
    Spastic paraplegia 49, autosomal recessive1Mar 13, 2018
    Spastic paraplegia 57, autosomal recessive1Jan 30, 2019
    Spastic paraplegia 73Mar 13, 2018
    Spastic paraplegia 91Aug 22, 2017
    Spastic paraplegia 9b, autosomal recessive1Aug 22, 2017
    Spastic paraplegia, intellectual disability, nystagmus, and obesity1Aug 22, 2017
    Spherocytosis type 41Mar 13, 2018
    Spinal muscular atrophy1Aug 22, 2017
    Spinal muscular atrophy, jokela type1Mar 13, 2018
    Spinocerebellar ataxia 261Aug 22, 2017
    Spinocerebellar ataxia 291Mar 13, 2018
    Spinocerebellar ataxia 52Mar 13, 2018
    Spinocerebellar ataxia 61Jan 30, 2019
    Spinocerebellar ataxia type 15/161Mar 13, 2018
    Spinocerebellar ataxia, autosomal recessive 121Jan 30, 2019
    Spinocerebellar ataxia, autosomal recessive 142Mar 13, 2018
    Spinocerebellar ataxia, autosomal recessive 81Jan 30, 2019
    Spondylometaphyseal dysplasia, megarbane-dagher-melki type1Mar 13, 2018
    Stargardt disease5Jan 30, 2019
    Stargardt disease 13Jan 30, 2019
    Stickler syndrome, type 32Jan 30, 2019
    Stickler syndrome, type 51Aug 22, 2017
    Subacute neuronopathic Gaucher's disease1Jan 30, 2019
    Succinate-semialdehyde dehydrogenase deficiency2Mar 13, 2018
    Supravalvar aortic stenosis1Mar 13, 2018
    Susceptibility to severe cutaneous adverse reaction1Aug 22, 2017
    TANGO2-Related disorder1Aug 22, 2017
    TERT-associated disorder1Aug 22, 2017
    TLK2-Related Disorder1Jan 30, 2019
    TSC2-Related Disorder1Aug 22, 2017
    TTN-Related Disorders1Mar 13, 2018
    TTN-Related disorder1Aug 22, 2017
    Tatton-Brown-rahman syndrome2Jan 30, 2019
    Thiamine-responsive megaloblastic anemia1Aug 22, 2017
    Thoracic aortic aneurysm and aortic dissection1Jan 30, 2019
    Thoracic aortic dissection1Aug 22, 2017
    Thrombocythemia 31Mar 13, 2018
    Transposition of the great arteries, dextro-looped 11Aug 22, 2017
    Treacher Collins syndrome 11Mar 13, 2018
    Trichothiodystrophy 1, photosensitive1Aug 22, 2017
    Tuberous sclerosis 11Jan 30, 2019
    Tuberous sclerosis syndrome1Aug 22, 2017
    Turcot syndrome2Jan 30, 2019
    Type A2 brachydactyly1Aug 22, 2017
    Type B brachydactyly1Aug 22, 2017
    Tyrosinase-positive oculocutaneous albinism2Mar 13, 2018
    UBTF-Related Disorder1Jan 30, 2019
    UNC80-Related Disorder2Aug 22, 2017
    USP9X related disorders1Aug 22, 2017
    Ullrich congenital muscular dystrophy 11Mar 13, 2018
    Usher syndrome, type 11Jan 30, 2019
    Usher syndrome, type 1D2Jan 30, 2019
    Verheij syndrome1Mar 13, 2018
    Visceral heterotaxy 5, autosomal1Mar 13, 2018
    WFS1-Related Disorders3Mar 13, 2018
    Waardenburg syndrome type 4A1Mar 13, 2018
    Warsaw breakage syndrome2Mar 13, 2018
    Weill-Marchesani syndrome1Jan 30, 2019
    Wieacker Wolff syndrome1Mar 13, 2018
    Wilson disease5Jan 30, 2019
    Wolfram-like syndrome, autosomal dominant3Mar 13, 2018
    X-linked intellectual disability syndrome1Aug 22, 2017
    Xia-Gibbs syndrome2Jan 30, 2019
    beta Thalassemia1Mar 13, 2018
    breast cancer1Jan 30, 2019
    mtDNA-related disorders1Aug 22, 2017
    not provided347Jan 30, 2019
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