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: 1424

    Gene

    GeneSubmissionsLast Updated
    AARS11Aug 22, 2017
    ABAT1Aug 22, 2017
    ABCA410Apr 20, 2020
    ABCB41Mar 13, 2018
    ABCC11Nov 17, 2017
    ABCC62Aug 22, 2017
    ABCC91Nov 17, 2017
    ABHD111Apr 20, 2020
    ABL11Apr 20, 2020
    ACAD81Aug 22, 2017
    ACADM1Mar 13, 2018
    ACADS3Aug 22, 2017
    ACBD61Aug 22, 2017
    ACD1Mar 13, 2018
    ACKR31Mar 13, 2018
    ACO23Apr 20, 2020
    ACOT21Jan 30, 2019
    ACSM51Jan 30, 2019
    ACTG21Jan 30, 2019
    ACTN22Apr 20, 2020
    ACYP11Mar 13, 2018
    ADGRB11Apr 20, 2020
    ADNP1Apr 20, 2020
    AGL1Aug 22, 2017
    AGRN1Apr 20, 2020
    AGTPBP11Aug 22, 2017
    AHDC12Jan 30, 2019
    AHNAK21Aug 22, 2017
    AIMP11Mar 13, 2018
    AIRE1Apr 20, 2020
    AKT31Apr 20, 2020
    ALDH18A11Aug 22, 2017
    ALDH1B11Apr 20, 2020
    ALDH3A21Jan 30, 2019
    ALDH5A12Mar 13, 2018
    ALDOB1Mar 13, 2018
    ALG21Apr 20, 2020
    ALMS12Jan 30, 2019
    ALOXE32Apr 20, 2020
    ALPL2Jan 30, 2019
    AMPD11Aug 22, 2017
    ANK23Apr 20, 2020
    ANKRD11Apr 20, 2020
    ANKRD112Aug 22, 2017
    ANKRD261Apr 20, 2020
    ANLN1Jan 30, 2019
    ANO53Mar 13, 2018
    AP2B11Apr 20, 2020
    AP4S12Apr 20, 2020
    APC5Apr 20, 2020
    APOB1Mar 13, 2018
    AR1Apr 20, 2020
    ARFGEF21Aug 22, 2017
    ARG11Mar 13, 2018
    ARHGAP81Jan 30, 2019
    ARID1A1Aug 22, 2017
    ARID1B1Apr 20, 2020
    ARSA2Apr 20, 2020
    ASAH11Mar 13, 2018
    ASH1L1Apr 20, 2020
    ASS11Aug 22, 2017
    ASTN11Aug 22, 2017
    ASXL34Apr 20, 2020
    ATAD3A1Apr 20, 2020
    ATM8Apr 20, 2020
    ATP13A22Mar 13, 2018
    ATP7B8Apr 20, 2020
    ATRX2Apr 20, 2020
    ATXN7L3-AS11Jan 30, 2019
    AVPR21Aug 22, 2017
    AXIN21Mar 13, 2018
    B4GALNT11Apr 20, 2020
    B4GALT73Jan 30, 2019
    BARD12Apr 20, 2020
    BAZ1B1Aug 22, 2017
    BBS12Apr 20, 2020
    BCAP311Aug 22, 2017
    BCHE1Aug 22, 2017
    BCKDHB1Apr 20, 2020
    BCL11B1Jan 30, 2019
    BICD21Aug 22, 2017
    BIN11Mar 13, 2018
    BLOC1S1-RDH51Jan 30, 2019
    BMPR1A2Apr 20, 2020
    BMPR1B1Aug 22, 2017
    BPTF1Apr 20, 2020
    BRAF2Aug 22, 2017
    BRAT11Apr 20, 2020
    BRCA15Apr 20, 2020
    BRCA216Apr 20, 2020
    BRIP11Mar 13, 2018
    BRPF11Aug 22, 2017
    BRWD11Mar 13, 2018
    BRWD31Jan 30, 2019
    BTD3Apr 20, 2020
    C11orf654Jan 30, 2019
    C16orf741Mar 13, 2018
    C19orf121Aug 22, 2017
    CACHD13Apr 20, 2020
    CACNA1A3Apr 20, 2020
    CACNA1C2Jan 30, 2019
    CACNA1G3Apr 20, 2020
    CACNA1H3Jan 30, 2019
    CACNA2D32Apr 20, 2020
    CACNB21Aug 22, 2017
    CALML41Aug 22, 2017
    CAMK2G1Aug 22, 2017
    CAMSAP12Apr 20, 2020
    CAMTA12Apr 20, 2020
    CAPG1Jan 30, 2019
    CAPN32Apr 20, 2020
    CARS21Mar 13, 2018
    CASK4Jan 30, 2019
    CASR1Jan 30, 2019
    CATSPER41Mar 13, 2018
    CBL2Apr 20, 2020
    CBS1Mar 13, 2018
    CCDC1901Mar 13, 2018
    CCDC221Mar 13, 2018
    CCSER11Apr 20, 2020
    CD191Mar 13, 2018
    CDH11Apr 20, 2020
    CDH232Jan 30, 2019
    CDK131Apr 20, 2020
    CDK5RAP22Mar 13, 2018
    CDKL51Apr 20, 2020
    CDKN2A1Apr 20, 2020
    CDT11Aug 22, 2017
    CEBPA1Aug 22, 2017
    CEP1521Mar 13, 2018
    CEP2901Aug 22, 2017
    CFAP1571Mar 13, 2018
    CFTR7Apr 20, 2020
    CFTR-AS12Jan 30, 2019
    CGAS1Mar 13, 2018
    CHAT1Mar 13, 2018
    CHCHD101Mar 13, 2018
    CHD11Aug 22, 2017
    CHD23Apr 20, 2020
    CHD32Apr 20, 2020
    CHD71Aug 22, 2017
    CHD82Mar 13, 2018
    CHEK27Apr 20, 2020
    CHIT11Mar 13, 2018
    CHN12Mar 13, 2018
    CHRNA41Jan 30, 2019
    CHRNG1Aug 22, 2017
    CHST141Aug 22, 2017
    CIZ11Mar 13, 2018
    CLCN41Aug 22, 2017
    CLN51Apr 20, 2020
    CLN81Aug 22, 2017
    CLTC1Jan 30, 2019
    CNGA11Jan 30, 2019
    CNOT12Apr 20, 2020
    CNOT31Apr 20, 2020
    CNTNAP22Apr 20, 2020
    COASY1Aug 22, 2017
    COG61Mar 13, 2018
    COL11A11Apr 20, 2020
    COL11A26Apr 20, 2020
    COL12A12Apr 20, 2020
    COL1A13Apr 20, 2020
    COL1A26Apr 20, 2020
    COL2A11Mar 13, 2018
    COL3A110Apr 20, 2020
    COL4A12Mar 13, 2018
    COL4A51Jan 30, 2019
    COL5A19Apr 20, 2020
    COL5A25Apr 20, 2020
    COL6A12Mar 13, 2018
    COL6A24Apr 20, 2020
    COL6A31Apr 20, 2020
    COL7A13Apr 20, 2020
    COL9A21Aug 22, 2017
    CORO7-PAM161Mar 13, 2018
    CPLANE11Apr 20, 2020
    CPNE61Mar 13, 2018
    CPOX1Aug 22, 2017
    CPS16Mar 13, 2018
    CPT22Apr 20, 2020
    CRAT1Jan 30, 2019
    CREBBP1Aug 22, 2017
    CRPPA1Apr 20, 2020
    CRTAP1Apr 20, 2020
    CSF1R1Apr 20, 2020
    CSMD31Apr 20, 2020
    CSNK2A11Aug 22, 2017
    CSNK2B1Apr 20, 2020
    CTCF1Apr 20, 2020
    CTNNB11Apr 20, 2020
    CTR91Apr 20, 2020
    CTSC1Mar 13, 2018
    CUBN1Aug 22, 2017
    CYP11B21Apr 20, 2020
    CYP17A13Apr 20, 2020
    CYP17A1-AS11Mar 13, 2018
    CYP1B11Jul 17, 2020
    CYP27A11Apr 20, 2020
    CYP3A51Mar 13, 2018
    DAG11Apr 20, 2020
    DARS23Mar 13, 2018
    DBNL1Aug 22, 2017
    DCTN12Jan 30, 2019
    DDHD11Apr 20, 2020
    DDOST2Mar 13, 2018
    DDX112Mar 13, 2018
    DDX3X2Apr 20, 2020
    DEPDC52Aug 22, 2017
    DES1Apr 20, 2020
    DGUOK1Jan 30, 2019
    DHCR73Apr 20, 2020
    DHTKD11Mar 13, 2018
    DHX291Mar 13, 2018
    DIABLO1Apr 20, 2020
    DIP2C1Mar 13, 2018
    DLG32Apr 20, 2020
    DMAC21Jan 30, 2019
    DMD6Apr 20, 2020
    DNAH11Jan 30, 2019
    DNAH141Aug 22, 2017
    DNAJB131Mar 13, 2018
    DNMT11Aug 22, 2017
    DNMT3A2Apr 20, 2020
    DOCK31Apr 20, 2020
    DOCK61Mar 13, 2018
    DOCK83Apr 20, 2020
    DPAGT11Jan 30, 2019
    DPYD1Mar 13, 2018
    DPYD-AS11Mar 13, 2018
    DRP21Jan 30, 2019
    DSC21Apr 20, 2020
    DSG1-AS11Mar 13, 2018
    DSG21Aug 22, 2017
    DSG41Mar 13, 2018
    DSPP1Apr 20, 2020
    DTNA1Apr 20, 2020
    DVL11Apr 20, 2020
    DYNC1H12Apr 20, 2020
    DYNC2H12Apr 20, 2020
    DYRK1A1Aug 22, 2017
    DYSF3Jan 30, 2019
    DYTN1Mar 13, 2018
    EARS23Apr 20, 2020
    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
    EPCAM1Apr 20, 2020
    EPHB21Mar 13, 2018
    EPS82Jan 30, 2019
    ERBB41Aug 22, 2017
    ESPN1Mar 13, 2018
    ETHE11Aug 22, 2017
    EXOC41Jan 30, 2019
    EXOSC81Mar 13, 2018
    EXT21Apr 20, 2020
    EZH21Apr 20, 2020
    F111Apr 20, 2020
    FAM111A1Apr 20, 2020
    FANCC1Aug 22, 2017
    FANCM2Mar 13, 2018
    FASN2Jan 30, 2019
    FAT11Apr 20, 2020
    FBLN51Apr 20, 2020
    FBN17Apr 20, 2020
    FBN23Apr 20, 2020
    FBP11Aug 22, 2017
    FDPS1Jan 30, 2019
    FERMT12Jan 30, 2019
    FGF121Apr 20, 2020
    FGFR31Mar 13, 2018
    FH2Apr 20, 2020
    FHL11Apr 20, 2020
    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
    FOXG11Apr 20, 2020
    FYB21Mar 13, 2018
    FZD41Aug 22, 2017
    G6PD1Mar 13, 2018
    GAA1Apr 20, 2020
    GABRA61Aug 22, 2017
    GABRB22Apr 20, 2020
    GABRB31Apr 20, 2020
    GABRG21Aug 22, 2017
    GADD45GIP11Jan 30, 2019
    GALC1Apr 20, 2020
    GARS11Aug 22, 2017
    GATA31Mar 13, 2018
    GATA61Apr 20, 2020
    GATAD11Aug 22, 2017
    GATAD2B2Jan 30, 2019
    GBA2Jan 30, 2019
    GBA21Aug 22, 2017
    GBE12Mar 13, 2018
    GCK1Apr 20, 2020
    GFER1Mar 13, 2018
    GH-LCR1Aug 22, 2017
    GIPC31Aug 22, 2017
    GJB23Apr 20, 2020
    GJC21Aug 22, 2017
    GLA3Mar 13, 2018
    GLB11Mar 13, 2018
    GLMN1Mar 13, 2018
    GML1Apr 20, 2020
    GNB11Apr 20, 2020
    GNB52Mar 13, 2018
    GNE1Apr 20, 2020
    GOLGA6L62Aug 22, 2017
    GOSR22Aug 22, 2017
    GP1BA1Mar 13, 2018
    GP91Mar 13, 2018
    GRHPR1Mar 13, 2018
    GRIA12Mar 13, 2018
    GRIA21Aug 22, 2017
    GRIA31Aug 22, 2017
    GRIN13Apr 20, 2020
    GRIN2A2Apr 20, 2020
    GRIN2B2Apr 21, 2020
    GRM51Mar 13, 2018
    GRM61Aug 22, 2017
    GTPBP32Apr 20, 2020
    GYS12Apr 20, 2020
    HBA11Mar 13, 2018
    HBA22Apr 20, 2020
    HBB1Mar 13, 2018
    HEATR91Aug 22, 2017
    HECW21Aug 22, 2017
    HERC21Mar 13, 2018
    HFE2Apr 20, 2020
    HFE-AS11Apr 20, 2020
    HIVEP21Aug 22, 2017
    HK31Jan 30, 2019
    HLA-A1Aug 22, 2017
    HMBS1Jan 30, 2019
    HNRNPC1Apr 20, 2020
    HNRNPU1Apr 20, 2020
    HRAS2Aug 22, 2017
    HSD17B101Aug 22, 2017
    HSD17B41Aug 22, 2017
    HSF41Mar 13, 2018
    HSPB11Aug 22, 2017
    HSPB82Apr 20, 2020
    HUWE12Apr 20, 2020
    IARS21Jan 30, 2019
    IDUA1Apr 20, 2020
    IFIH11Apr 20, 2020
    IFT741Jan 30, 2019
    IGF1R2Apr 20, 2020
    IGH3Apr 20, 2020
    IL1RAPL11Aug 22, 2017
    IL36RN1Aug 22, 2017
    INHBA1Mar 13, 2018
    INSL61Mar 13, 2018
    IQCE1Jan 30, 2019
    IQSEC21Mar 13, 2018
    ITGA72Apr 20, 2020
    ITPR11Mar 13, 2018
    JAK21Mar 13, 2018
    JAK31Aug 22, 2017
    KANK11Mar 13, 2018
    KANSL11Apr 20, 2020
    KAT6B1Aug 22, 2017
    KCNA11Mar 13, 2018
    KCNA21Apr 20, 2020
    KCNE11Aug 22, 2017
    KCNH24Apr 20, 2020
    KCNJ101Jan 30, 2019
    KCNJ111Aug 22, 2017
    KCNJ61Mar 13, 2018
    KCNQ11Apr 20, 2020
    KCNQ22Apr 20, 2020
    KCNQ31Apr 20, 2020
    KCNV21Aug 22, 2017
    KDM1A1Jan 30, 2019
    KDM3B1Apr 20, 2020
    KDM5B1Mar 13, 2018
    KDM5C2Apr 20, 2020
    KIAA12101Aug 22, 2017
    KIDINS2201Aug 22, 2017
    KIF1A3Apr 20, 2020
    KIF21B1Jan 30, 2019
    KIF5C1Apr 20, 2020
    KIRREL31Mar 13, 2018
    KLF81Aug 22, 2017
    KMT2B1Apr 20, 2020
    KMT2D3Apr 20, 2020
    KRAS1Aug 22, 2017
    LAMA12Jan 30, 2019
    LAMA29Apr 20, 2020
    LAMA41Apr 20, 2020
    LDB31Apr 20, 2020
    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
    LOC1014482022Apr 20, 2020
    LOC1019270551Aug 22, 2017
    LOC1019271571Jan 30, 2019
    LOC1019290571Aug 22, 2017
    LOC1060990621Mar 13, 2018
    LOC1066279812Jan 30, 2019
    LOC1066943161Aug 22, 2017
    LOC1067998341Apr 20, 2020
    LOC1068046121Apr 20, 2020
    LOC1071335101Mar 13, 2018
    LOC1101214651Jan 30, 2019
    LOC1125298951Aug 22, 2017
    LOX2Apr 20, 2020
    LOXHD12Jan 30, 2019
    LPIN21Mar 13, 2018
    LRATD21Aug 22, 2017
    LRIT31Jan 30, 2019
    LRP12Jan 30, 2019
    LRP23Jan 30, 2019
    LRP41Apr 20, 2020
    LRP4-AS11Apr 20, 2020
    LRP61Jan 30, 2019
    LRPPRC1Jan 30, 2019
    LRRC37A23Mar 13, 2018
    LRRC562Aug 22, 2017
    LRRK12Jan 30, 2019
    LRSAM12Aug 22, 2017
    LTBP21Aug 22, 2017
    LTBP43Apr 20, 2020
    LZTR12Apr 20, 2020
    MAGEC11Aug 22, 2017
    MAGEL21Apr 20, 2020
    MANBA1Mar 13, 2018
    MAP1A1Apr 20, 2020
    MAP2K23Aug 22, 2017
    MAP3K71Jan 30, 2019
    MARS12Mar 13, 2018
    MARS21Apr 20, 2020
    MASP21Aug 22, 2017
    MATR31Aug 22, 2017
    MAVS1Mar 13, 2018
    MBD52Nov 17, 2017
    MBL21Aug 22, 2017
    MCCC11Aug 22, 2017
    MCCC21Aug 22, 2017
    MDN12Aug 22, 2017
    MECP22Apr 20, 2020
    MECR2Apr 20, 2020
    MED13L2Apr 20, 2020
    MED232Mar 13, 2018
    MEF2C4Jan 30, 2019
    MEFV3Apr 20, 2020
    MEIS21Aug 22, 2017
    MEN12Apr 20, 2020
    MFAP51Apr 20, 2020
    MFN11Jan 30, 2019
    MGME11Mar 13, 2018
    MHRT1Apr 20, 2020
    MITD11Mar 13, 2018
    MITF1Mar 13, 2018
    MLH12Jan 30, 2019
    MMACHC1Jan 30, 2019
    MORC21Jan 30, 2019
    MPDU11Jan 30, 2019
    MPI1Mar 13, 2018
    MPO2Aug 22, 2017
    MPST1Jan 30, 2019
    MPV172Apr 20, 2020
    MPV17L21Mar 13, 2018
    MPZ2Jan 30, 2019
    MRE111Apr 20, 2020
    MRPL31Aug 22, 2017
    MRPL442Mar 13, 2018
    MRPS121Mar 13, 2018
    MRPS301Mar 13, 2018
    MSH27Apr 20, 2020
    MSH31Mar 13, 2018
    MSH63Apr 20, 2020
    MSL21Aug 22, 2017
    MSL32Apr 20, 2020
    MSRB32Mar 13, 2018
    MT-ATP69Apr 20, 2020
    MT-ATP81Apr 20, 2020
    MT-CO11Aug 22, 2017
    MT-CO31Aug 22, 2017
    MT-CYB3Apr 20, 2020
    MT-ND12Apr 20, 2020
    MT-ND22Mar 13, 2018
    MT-ND42Jan 30, 2019
    MT-ND52Apr 20, 2020
    MT-ND62Apr 20, 2020
    MT-RNR12Aug 22, 2017
    MT-RNR21Aug 22, 2017
    MT-TE1Mar 13, 2018
    MT-TG1Aug 22, 2017
    MT-TH2Apr 20, 2020
    MT-TI1Apr 20, 2020
    MT-TL21Jan 30, 2019
    MT-TT3Apr 20, 2020
    MT-TV1Jan 30, 2019
    MT-TW2Apr 20, 2020
    MT-TY1Aug 22, 2017
    MTFMT1Aug 22, 2017
    MTHFD2L1Jan 30, 2019
    MTOR3Apr 20, 2020
    MUTYH1Mar 13, 2018
    MXRA51Jan 30, 2019
    MYBPC37Jan 30, 2019
    MYH113Apr 20, 2020
    MYH141Apr 20, 2020
    MYH21Mar 13, 2018
    MYH61Apr 20, 2020
    MYH75Apr 20, 2020
    MYH93Jan 30, 2019
    MYHAS1Mar 13, 2018
    MYL101Jan 30, 2019
    MYLK1Aug 22, 2017
    MYO3B1Aug 22, 2017
    MYO7A3Apr 20, 2020
    MYOM11Aug 22, 2017
    NAGS4Aug 22, 2017
    NALCN1Apr 20, 2020
    NARS21Aug 22, 2017
    NBN3Apr 20, 2020
    NCOA41Jan 30, 2019
    NDUFA11Aug 22, 2017
    NDUFAF71Jan 30, 2019
    NDUFB11Apr 20, 2020
    NDUFS11Apr 20, 2020
    NDUFS41Aug 22, 2017
    NDUFV11Mar 13, 2018
    NEB2Apr 20, 2020
    NECTIN41Aug 22, 2017
    NEFH1Aug 22, 2017
    NEXMIF1Jan 30, 2019
    NF15Apr 20, 2020
    NFATC11Apr 20, 2020
    NFIA1Jan 30, 2019
    NIPBL1Apr 20, 2020
    NKAIN21Jan 30, 2019
    NLRP122Apr 20, 2020
    NLRP31Aug 22, 2017
    NMI1Mar 13, 2018
    NODAL1Mar 13, 2018
    NOTCH13Jan 30, 2019
    NOTCH31Apr 20, 2020
    NOXA11Aug 22, 2017
    NPC11Aug 22, 2017
    NPC21Mar 13, 2018
    NPR21Apr 20, 2020
    NRAS1Mar 13, 2018
    NRL1Aug 22, 2017
    NRN1L1Mar 13, 2018
    NRXN11Aug 22, 2017
    NRXN21Jan 30, 2019
    NSF1Mar 13, 2018
    NSUN21Apr 20, 2020
    NTRK11Aug 22, 2017
    NUBPL1Mar 13, 2018
    OBI1-AS12Apr 20, 2020
    OCA22Mar 13, 2018
    OPA13Mar 13, 2018
    OPA31Mar 13, 2018
    OR6K21Aug 22, 2017
    ORC11Aug 22, 2017
    OTOG1Aug 22, 2017
    OTOGL4Apr 21, 2020
    P2RX71Nov 17, 2017
    P3H11Apr 20, 2020
    PACS11Jan 30, 2019
    PAFAH1B11Mar 13, 2018
    PAH2Mar 13, 2018
    PALB24Apr 20, 2020
    PALS21Aug 22, 2017
    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
    PHKA21Apr 20, 2020
    PIGO2Mar 13, 2018
    PIGT3Apr 21, 2020
    PIK3R11Mar 13, 2018
    PIK3R21Jan 30, 2019
    PINK11Aug 22, 2017
    PITRM11Jan 30, 2019
    PKD12Jan 30, 2019
    PKD21Jan 30, 2019
    PKHD15Jan 30, 2019
    PKP21Apr 20, 2020
    PLEC2Aug 22, 2017
    PLEKHG51Jan 30, 2019
    PLOD31Apr 20, 2020
    PLXNA31Mar 13, 2018
    PLXNB31Mar 13, 2018
    PMP221Jan 30, 2019
    PMS28Apr 20, 2020
    PNKP1Apr 20, 2020
    PNPT11Jan 30, 2019
    POGLUT11Apr 20, 2020
    POLD12Mar 13, 2018
    POLE3Apr 20, 2020
    POLG8Jan 30, 2019
    POLR2F1Apr 20, 2020
    POLR3B1Apr 20, 2020
    POMGNT11Apr 20, 2020
    POMT22Jan 30, 2019
    POU1F11Mar 13, 2018
    POU4F12Apr 20, 2020
    PPA21Jan 30, 2019
    PPM1D1Aug 22, 2017
    PPOX1Aug 22, 2017
    PPP2R1A1Jan 30, 2019
    PPP2R2B1Apr 20, 2020
    PPT11Jan 30, 2019
    PRB21Aug 22, 2017
    PREX21Apr 20, 2020
    PRICKLE11Mar 13, 2018
    PRKAR1A1Aug 22, 2017
    PRKG12Apr 20, 2020
    PRMT72Mar 13, 2018
    PROM11Apr 20, 2020
    PRPH21Apr 20, 2020
    PRR5-ARHGAP81Jan 30, 2019
    PRRT21Apr 20, 2020
    PRSS121Aug 22, 2017
    PRSS331Aug 22, 2017
    PRUNE21Aug 22, 2017
    PSMD121Apr 20, 2020
    PTRH11Mar 13, 2018
    PTRH21Jan 30, 2019
    PUF601Mar 13, 2018
    PUM11Apr 20, 2020
    PYGM3Aug 22, 2017
    PYY4Aug 22, 2017
    QRFPR1Aug 22, 2017
    RAB11FIP51Aug 22, 2017
    RAD51C2Apr 20, 2020
    RAD51D2Apr 20, 2020
    RAD51L3-RFFL2Apr 20, 2020
    RAF11Apr 20, 2020
    RAI11Apr 20, 2020
    RBFOX11Apr 20, 2020
    RDH51Jan 30, 2019
    RECQL41Jan 30, 2019
    RELN1Mar 13, 2018
    RET1Aug 22, 2017
    RGPD41Mar 13, 2018
    RHAG1Apr 20, 2020
    RHBDF21Apr 20, 2020
    RHO1Aug 22, 2017
    RHOBTB21Apr 20, 2020
    RHOT11Jan 30, 2019
    RIF11Aug 22, 2017
    RMND11Aug 22, 2017
    ROCK21Mar 13, 2018
    ROR21Aug 22, 2017
    RP1L11Jan 30, 2019
    RPE652Apr 20, 2020
    RPL36A-HNRNPH23Mar 13, 2018
    RPS231Aug 22, 2017
    RRM2B1Apr 20, 2020
    RSPH4A1Aug 22, 2017
    RTEL11Mar 13, 2018
    RTEL1-TNFRSF6B1Mar 13, 2018
    RUSC1-AS11Jan 30, 2019
    RYR18Apr 20, 2020
    RYR22Apr 20, 2020
    RYR34Apr 20, 2020
    SACS2Mar 13, 2018
    SARS22Mar 13, 2018
    SATB21Mar 13, 2018
    SCAPER2Apr 20, 2020
    SCN10A1Aug 22, 2017
    SCN11A2Apr 20, 2020
    SCN1A2Nov 18, 2020
    SCN1B2Mar 13, 2018
    SCN2A5Apr 20, 2020
    SCN2B1Apr 20, 2020
    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
    SIM11Apr 20, 2020
    SIRT51Apr 20, 2020
    SIX51Jan 30, 2019
    SLC12A61Aug 22, 2017
    SLC19A21Aug 22, 2017
    SLC22A51Mar 13, 2018
    SLC25A121Mar 13, 2018
    SLC25A231Apr 20, 2020
    SLC25A241Apr 20, 2020
    SLC26A41Aug 22, 2017
    SLC27A41Jan 30, 2019
    SLC2A13Apr 20, 2020
    SLC2A101Apr 20, 2020
    SLC4A12Mar 13, 2018
    SLC6A13Jan 30, 2019
    SLC6A21Aug 22, 2017
    SLC6A81Mar 13, 2018
    SMAD32Jan 30, 2019
    SMARCA21Apr 20, 2020
    SMCHD11Aug 22, 2017
    SMS1Aug 22, 2017
    SNAP251Apr 20, 2020
    SNED11Aug 22, 2017
    SNHG141Aug 22, 2017
    SOD11Apr 20, 2020
    SON1Aug 22, 2017
    SOS21Mar 13, 2018
    SOX101Apr 20, 2020
    SOX21Apr 20, 2020
    SOX2-OT1Apr 20, 2020
    SP1101Mar 13, 2018
    SP1401Mar 13, 2018
    SPAST5Jan 30, 2019
    SPG112Apr 20, 2020
    SPG73Mar 13, 2018
    SPI11Mar 13, 2018
    SPINK11Aug 22, 2017
    SPINK51Mar 13, 2018
    SPTAN11Apr 20, 2020
    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
    STRC3Apr 20, 2020
    STT3B1Mar 13, 2018
    STX111Aug 22, 2017
    STX1B1Mar 13, 2018
    STXBP14Aug 22, 2017
    SUCLG21Apr 20, 2020
    SURF11Mar 13, 2018
    SYNE12Apr 20, 2020
    SYT121Aug 22, 2017
    SYT41Mar 13, 2018
    SZT23Apr 20, 2020
    TALDO11Jan 30, 2019
    TANGO21Aug 22, 2017
    TAOK11Aug 22, 2017
    TBC1D241Mar 13, 2018
    TBCEL-TECTA1Mar 13, 2018
    TBCK1Apr 20, 2020
    TBL1XR12Apr 20, 2020
    TBR11Aug 22, 2017
    TCAP1Jan 30, 2019
    TCF122Jan 30, 2019
    TCIRG11Aug 22, 2017
    TCOF11Mar 13, 2018
    TCP102Aug 22, 2017
    TECPR23Apr 20, 2020
    TECTA1Mar 13, 2018
    TENM11Apr 20, 2020
    TERT2Aug 22, 2017
    TFG1Jan 30, 2019
    TG1Jan 30, 2019
    TGFB21Aug 22, 2017
    TGFBR22Aug 22, 2017
    TH1Mar 13, 2018
    THG1L1Aug 22, 2017
    TIGD11Aug 22, 2017
    TIMM441Apr 20, 2020
    TJP21Mar 13, 2018
    TKT1Mar 13, 2018
    TLK22Apr 20, 2020
    TMLHE1Jan 30, 2019
    TNFRSF13B1Mar 13, 2018
    TNFRSF1A1Mar 13, 2018
    TNRC6B1Aug 22, 2017
    TNXB1Aug 22, 2017
    TOPORS1Jan 30, 2019
    TP531Apr 20, 2020
    TPO1Jul 17, 2020
    TPP13Jul 17, 2020
    TRAF71Apr 20, 2020
    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
    TSPAN11Apr 20, 2020
    TSPEAR2Jan 30, 2019
    TSPEAR-AS11Jan 30, 2019
    TSTD31Aug 22, 2017
    TTC21B1Aug 22, 2017
    TTN25Apr 20, 2020
    TTN-AS113Apr 20, 2020
    TTR1Apr 20, 2020
    TUBA1A2Apr 20, 2020
    TUBB1Apr 20, 2020
    TUBB2A1Apr 20, 2020
    TUBB4A1Apr 20, 2020
    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
    USP9X2Apr 20, 2020
    VARS21Mar 13, 2018
    VCL1Mar 13, 2018
    VPS13B4Mar 13, 2018
    VRK11Mar 13, 2018
    WDR371Aug 22, 2017
    WDR452Jan 30, 2019
    WDR811Jan 30, 2019
    WFS12Mar 13, 2018
    WRN1Apr 20, 2020
    WWOX1Jan 30, 2019
    ZBTB201Jan 30, 2019
    ZC4H21Mar 13, 2018
    ZDHHC241Apr 20, 2020
    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
    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
    ABL1-Related Disorder1Apr 20, 2020
    ACO2-related disorder1Aug 22, 2017
    ACO2-related disorders1Aug 22, 2017
    ACTG2-Related Disorder1Jan 30, 2019
    AKT3-Related Disorder1Apr 20, 2020
    ALG2-CDG1Apr 20, 2020
    AP4S1-related disorder1Apr 20, 2020
    APS41-Related disorder1Apr 20, 2020
    ASH1L-Related Disorder1Apr 20, 2020
    ATRX-Related Disorder1Aug 22, 2017
    Abnormality of the pancreas1Apr 20, 2020
    Achondroplasia1Mar 13, 2018
    Acromelic frontonasal dysostosis2Jan 30, 2019
    Acromesomelic dysplasia, Maroteaux type1Apr 20, 2020
    Acute Porphyria2Aug 22, 2017
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Aug 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
    Agenesis of the corpus callosum with peripheral neuropathy1Aug 22, 2017
    Aicardi-Goutieres syndrome 71Apr 20, 2020
    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
    Amyloidogenic transthyretin amyloidosis1Apr 20, 2020
    Amyotrophic lateral sclerosis type 11Apr 20, 2020
    Angelman syndrome2Apr 20, 2020
    Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Mar 13, 2018
    Anterior segment dysgenesis 11Jan 30, 2019
    Aortic aneurysm, familial thoracic 101Apr 20, 2020
    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
    Arterial tortuosity syndrome1Apr 20, 2020
    Ataxia-telangiectasia syndrome2Jan 30, 2019
    Ataxia-telangiectasia-like disorder 11Apr 20, 2020
    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 distal renal tubular acidosis1Mar 13, 2018
    Autosomal dominant familial acute myeloid leukemia1Aug 22, 2017
    Autosomal dominant nonsyndromic deafness 171Aug 22, 2017
    Autosomal dominant nonsyndromic deafness 63Mar 13, 2018
    Autosomal dominant optic atrophy classic form2Mar 13, 2018
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12Mar 13, 2018
    Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 51Apr 20, 2020
    Autosomal dominant retinitis pigmentosa1Aug 22, 2017
    Autosomal dominant torsion dystonia 41Apr 20, 2020
    Autosomal recessive DOPA responsive dystonia1Mar 13, 2018
    Autosomal recessive congenital ichthyosis 32Apr 20, 2020
    Autosomal recessive cutis laxa type IA1Apr 20, 2020
    Autosomal recessive limb-girdle muscular dystrophy type 2B1Jan 30, 2019
    Autosomal recessive limb-girdle muscular dystrophy type 2G1Jan 30, 2019
    Autosomal recessive multiple pterygium syndrome1Aug 22, 2017
    Autosomal recessive osteopetrosis 11Aug 22, 2017
    Autosomal recessive polycystic kidney disease5Jan 30, 2019
    BRWD3-Related Disorder1Jan 30, 2019
    Bainbridge-Ropers syndrome3Apr 20, 2020
    Bardet-Biedl syndrome1Aug 22, 2017
    Bardet-Biedl syndrome 11Apr 20, 2020
    Bardet-Biedl syndrome 201Jan 30, 2019
    Becker muscular dystrophy4Apr 20, 2020
    Benign familial neonatal seizures1Apr 20, 2020
    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 14Apr 20, 2020
    Bethlem myopathy 21Apr 20, 2020
    Bifunctional peroxisomal enzyme deficiency1Aug 22, 2017
    Biotinidase deficiency3Apr 20, 2020
    Brachydactyly1Apr 20, 2020
    Brachydactyly type A21Aug 22, 2017
    Brachydactyly type B11Aug 22, 2017
    Brain small vessel disease 1 with or without ocular anomalies1Mar 13, 2018
    Brain small vessel disease with hemorrhage1Mar 13, 2018
    Breast cancer, susceptibility to1Jan 30, 2019
    Breast-ovarian cancer, familial 11Apr 20, 2020
    Breast-ovarian cancer, familial 23Apr 20, 2020
    Breast-ovarian cancer, familial 32Apr 20, 2020
    Breast-ovarian cancer, familial 41Apr 20, 2020
    Brittle cornea syndrome 12Jan 30, 2019
    Bronze diabetes2Apr 20, 2020
    Brugada syndrome3Aug 22, 2017
    CACNA1A-Related Disorder2Apr 20, 2020
    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 Disorder2Apr 20, 2020
    CHD8-Related Disorders1Mar 13, 2018
    CLCN4-related disorder1Aug 22, 2017
    CLTC-Related Disorder1Jan 30, 2019
    CNOT1-Related Disorder2Apr 20, 2020
    COL11A2- Related Disorder1Jan 30, 2019
    COL12A1- Related Disorder1Apr 20, 2020
    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
    CSNK2A1- Related Disorders1Aug 22, 2017
    CTCF-Related Disorder1Apr 20, 2020
    Camptodactyly-tall stature-scoliosis-hearing loss syndrome1Mar 13, 2018
    Cardiac arrhythmia1Aug 22, 2017
    Cardiac arrhythmia, ankyrin B-related2Apr 20, 2020
    Cardiac valvular dysplasia, X-linked1Aug 22, 2017
    Cardiomyopathy2Dec 15, 2017
    Carney complex1Aug 22, 2017
    Carney-Stratakis syndrome1Mar 13, 2018
    Carnitine palmitoyltransferase II deficiency1Apr 20, 2020
    Carnitine palmitoyltransferase II deficiency, lethal neonatal1Apr 20, 2020
    Cataract 5 multiple types1Mar 13, 2018
    Catecholaminergic polymorphic ventricular tachycardia type 12Apr 20, 2020
    Central core myopathy3Apr 20, 2020
    Centronuclear myopathy1Aug 22, 2017
    Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21Jan 30, 2019
    Cerebellar ataxia, nonprogressive, with mental retardation1Apr 20, 2020
    Ceroid lipofuscinosis neuronal 23Jul 17, 2020
    Charcot-Marie-Tooth disease and deafness1Jan 30, 2019
    Charcot-Marie-Tooth disease axonal type 2C1Jan 30, 2019
    Charcot-Marie-Tooth disease type 2B12Jan 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 2O1Apr 20, 2020
    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 2L2Apr 20, 2020
    Charcot-Marie-Tooth disease, type 2N1Aug 22, 2017
    Charcot-Marie-Tooth disease, type 4k1Mar 13, 2018
    Charcot-Marie-Tooth disease, type IA1Jan 30, 2019
    Charlevoix-Saguenay spastic ataxia2Mar 13, 2018
    Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia2Jul 17, 2020
    Cholestanol storage disease1Apr 20, 2020
    Chromosome 15q13.3 microdeletion syndrome1Aug 22, 2017
    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
    Cobalamin C disease1Jan 30, 2019
    Coffin-Siris syndrome2Apr 20, 2020
    Coffin-Siris syndrome 11Apr 20, 2020
    Cohen syndrome4Mar 13, 2018
    Collagen VI-related myopathy2Mar 13, 2018
    Colon cancer, susceptibility to1Jan 30, 2019
    Combined oxidative phosphorylation deficiency 111Aug 22, 2017
    Combined oxidative phosphorylation deficiency 123Apr 20, 2020
    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 231Apr 20, 2020
    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 contractural arachnodactyly2Apr 20, 2020
    Congenital contractures of the limbs and face, hypotonia, and developmental delay1Apr 20, 2020
    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 heart defects, dysmorphic facial features, and intellectual developmental disorder1Apr 20, 2020
    Congenital hyperammonemia, type I1Mar 13, 2018
    Congenital hypomyelinating neuropathy1Jan 30, 2019
    Congenital hypothyroidism1Jan 30, 2019
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1Jan 30, 2019
    Congenital muscular dystrophy, LMNA-related2Jan 30, 2019
    Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A22Jan 30, 2019
    Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B22Jan 30, 2019
    Congenital myasthenic syndrome 131Jan 30, 2019
    Congenital myopathy with fiber type disproportion1Apr 20, 2020
    Congenital primary aphakia1Jan 30, 2019
    Congenital stationary night blindness1Aug 22, 2017
    Congenital stationary night blindness, type 1F1Jan 30, 2019
    Cornelia de Lange syndrome 11Apr 20, 2020
    Coronary artery disease1Jan 30, 2019
    Cortical dysplasia, complex, with other brain malformations 21Apr 20, 2020
    Cortical dysplasia, complex, with other brain malformations 61Apr 20, 2020
    Corticosterone methyloxidase type 2 deficiency1Apr 20, 2020
    Cowden syndrome 11Mar 13, 2018
    Craniosynostosis 31Jan 30, 2019
    Creatine transporter deficiency1Mar 13, 2018
    Crouzon syndrome with acanthosis nigricans1Mar 13, 2018
    Cutis Laxa Syndrome1Aug 22, 2017
    Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities2Apr 20, 2020
    Cutis laxa, autosomal dominant 11Mar 13, 2018
    Cutis laxa, autosomal dominant 21Apr 20, 2020
    Cutis laxa, autosomal dominant 31Aug 22, 2017
    Cutis laxa, autosomal recessive IIIA1Aug 22, 2017
    Cystic fibrosis5Apr 20, 2020
    DCTN1-Related Disorder2Jan 30, 2019
    DDX3X-Related Disorder2Apr 20, 2020
    DEPDC5-Related Disorder2Aug 22, 2017
    DIABLO-Related Hearing Loss1Apr 20, 2020
    DLG3-Related Disorder1Apr 20, 2020
    DMD-Related Disorder1Apr 20, 2020
    DNMT1-Related Disorder1Aug 22, 2017
    DNMT3A-Related Disorder1Apr 20, 2020
    DPAGT1-CDG1Jan 30, 2019
    DSPP-Related Disorder1Apr 20, 2020
    DYNC1H1-related disorders1Aug 22, 2017
    DYNC2H1-Related Disorder2Apr 20, 2020
    DYSF- Related Disorder1Aug 22, 2017
    Deafness3Aug 22, 2017
    Deafness, autosomal dominant 111Jan 30, 2019
    Deafness, autosomal dominant 132Jan 30, 2019
    Deafness, autosomal dominant 3a1Apr 20, 2020
    Deafness, autosomal dominant 41Apr 20, 2020
    Deafness, autosomal recessive 1061Jan 30, 2019
    Deafness, autosomal recessive 122Jan 30, 2019
    Deafness, autosomal recessive 162Apr 20, 2020
    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 84b3Apr 21, 2020
    Deafness, autosomal recessive 981Jan 30, 2019
    Deficiency of butyryl-CoA dehydrogenase3Aug 22, 2017
    Deficiency of butyrylcholine esterase2Aug 22, 2017
    Deficiency of iodide peroxidase1Jul 17, 2020
    Deficiency of isobutyryl-CoA dehydrogenase1Aug 22, 2017
    Deficiency of steroid 17-alpha-monooxygenase3Apr 20, 2020
    Deficiency of transaldolase1Jan 30, 2019
    Dejerine-Sottas disease2Jan 30, 2019
    Desmoid disease, hereditary1Mar 13, 2018
    Developmental and epileptic encephalopathy, 641Apr 20, 2020
    Developmental delay1Apr 20, 2020
    Dihydropyrimidine dehydrogenase deficiency1Mar 13, 2018
    Dilatation of the thoracic aorta1Aug 22, 2017
    Dilated cardiomyopathy 1A3Jan 30, 2019
    Dilated cardiomyopathy 1G6Apr 20, 2020
    Dilated cardiomyopathy 1GG1Aug 22, 2017
    Dilated cardiomyopathy 1O1Nov 17, 2017
    Dilated cardiomyopathy 1W1Mar 13, 2018
    Dilated cardiomyopathy 3B1Aug 22, 2017
    Distal hereditary motor neuronopathy type 51Aug 22, 2017
    Distal spinal muscular atrophy, autosomal recessive 41Jan 30, 2019
    Donnai-Barrow syndrome3Jan 30, 2019
    Duane syndrome type 11Mar 13, 2018
    Duchenne muscular dystrophy4Apr 20, 2020
    Dystonia 28, childhood-onset1Apr 20, 2020
    Dystonia 91Aug 22, 2017
    Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Apr 20, 2020
    Dystonia, primary cervical1Mar 13, 2018
    Dystrophic epidermolysis bullosa2Apr 20, 2020
    EAST syndrome1Jan 30, 2019
    ELP2-Related Disorders2Aug 22, 2017
    EMC1-Related Disorder2Jan 30, 2019
    EZH2-related disorder1Apr 20, 2020
    Early infantile epileptic encephalopathy 101Apr 20, 2020
    Early infantile epileptic encephalopathy 112Apr 20, 2020
    Early infantile epileptic encephalopathy 184Apr 20, 2020
    Early infantile epileptic encephalopathy 21Apr 20, 2020
    Early onset epileptic encephalopathy3Apr 20, 2020
    Ectodermal dysplasia-syndactyly syndrome 11Aug 22, 2017
    Ectopia lentis1Jan 30, 2019
    Ehlers-Danlos syndrome1Aug 22, 2017
    Ehlers-Danlos syndrome classic type 21Apr 20, 2020
    Ehlers-Danlos syndrome progeroid type3Jan 30, 2019
    Ehlers-Danlos syndrome, cardiac valvular type2Apr 20, 2020
    Ehlers-Danlos syndrome, classic type13Apr 20, 2020
    Ehlers-Danlos syndrome, musculocontractural type1Aug 22, 2017
    Ehlers-Danlos syndrome, procollagen proteinase deficient3Apr 20, 2020
    Ehlers-Danlos syndrome, type 32Jan 30, 2019
    Ehlers-Danlos syndrome, type 48Apr 20, 2020
    Ehlers-danlos syndrome, arthrochalasia type, 21Apr 20, 2020
    Elliptocytosis 11Mar 13, 2018
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant2Jan 30, 2019
    Emery-Dreifuss muscular dystrophy 3, autosomal recessive1Jan 30, 2019
    Endometrial carcinoma1Mar 13, 2018
    Epidermolysis bullosa simplex with 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, focal, with speech disorder and with or without mental retardation1Apr 20, 2020
    Epilepsy, idiopathic generalized, susceptibility to, 121Aug 22, 2017
    Epilepsy, nocturnal frontal lobe, type 11Jan 30, 2019
    Epileptic encephalopathy, childhood-onset2Apr 20, 2020
    Epileptic encephalopathy, early infantile, 321Apr 20, 2020
    Epileptic encephalopathy, early infantile, 331Jan 30, 2019
    Epileptic encephalopathy, early infantile, 431Apr 20, 2020
    Epileptic encephalopathy, early infantile, 541Apr 20, 2020
    Epileptic encephalopathy, infantile or early childhood 22Apr 20, 2020
    Epiphyseal dysplasia, multiple, 21Aug 22, 2017
    Episodic ataxia type 11Mar 13, 2018
    Episodic ataxia type 21Jan 30, 2019
    Episodic kinesigenic dyskinesia 11Apr 20, 2020
    Episodic pain syndrome, familial, 31Apr 20, 2020
    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 fever3Apr 20, 2020
    Familial adenomatous polyposis 13Apr 20, 2020
    Familial adenomatous polyposis 41Mar 13, 2018
    Familial amyloid nephropathy with urticaria AND deafness1Aug 22, 2017
    Familial cancer of breast2Apr 20, 2020
    Familial cardiomyopathy1Aug 22, 2017
    Familial cold autoinflammatory syndrome 11Aug 22, 2017
    Familial cold autoinflammatory syndrome 21Apr 20, 2020
    Familial exudative vitreoretinopathy1Aug 22, 2017
    Familial hemiplegic migraine type 11Jan 30, 2019
    Familial hemophagocytic lymphohistiocytosis1Aug 22, 2017
    Familial hypercholesterolemia 12Mar 13, 2018
    Familial hypercholesterolemia 21Mar 13, 2018
    Familial hypertrophic cardiomyopathy 12Apr 20, 2020
    Familial hypertrophic cardiomyopathy 151Mar 13, 2018
    Familial hypertrophic cardiomyopathy 42Aug 22, 2017
    Familial hypertrophic cardiomyopathy 95Apr 20, 2020
    Familial infantile myasthenia1Mar 13, 2018
    Familial medullary thyroid carcinoma1Aug 22, 2017
    Familial thoracic aortic aneurysm3Jan 30, 2019
    Familial thoracic aortic aneurysm and aortic dissection4Apr 20, 2020
    Fanconi anemia1Aug 22, 2017
    Fanconi anemia, complementation group D11Aug 22, 2017
    Fanconi anemia, complementation group M1Mar 13, 2018
    Fanconi anemia, complementation group N1Apr 20, 2020
    Farber disease1Mar 13, 2018
    Fetal hemoglobin quantitative trait locus 11Mar 13, 2018
    Fibrochondrogenesis 11Apr 20, 2020
    Fibrochondrogenesis 23Apr 20, 2020
    Focal cortical dysplasia type II1Apr 20, 2020
    Focal segmental glomerulosclerosis 81Jan 30, 2019
    Frontometaphyseal dysplasia 11Aug 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 syndrome1Apr 20, 2020
    GLUT1 deficiency syndrome 11Aug 22, 2017
    GLUT1 deficiency syndrome 22Mar 13, 2018
    GNB1-Related Disorder1Apr 20, 2020
    GNE myopathy1Apr 20, 2020
    GRIA3-Related Disorder1Aug 22, 2017
    GRIN1-Related Disorder2Jan 30, 2019
    GRIN2B-Related Disorder1Jan 30, 2019
    Gamma-aminobutyric acid transaminase deficiency1Aug 22, 2017
    Gastrointestinal stromal 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
    Generalized juvenile polyposis/juvenile polyposis coli1Apr 20, 2020
    Gillespie syndrome1Mar 13, 2018
    Glaucoma 3, primary congenital, A1Jul 17, 2020
    Glomerulopathy with fibronectin deposits 21Mar 13, 2018
    Glomuvenous malformations1Mar 13, 2018
    Glucose 6 phosphate dehydrogenase deficiency1Mar 13, 2018
    Glycogen phosphorylase kinase deficiency1Apr 20, 2020
    Glycogen storage disease 0, muscle2Apr 20, 2020
    Glycogen storage disease due to muscle beta-enolase deficiency1Aug 22, 2017
    Glycogen storage disease type III1Aug 22, 2017
    Glycogen storage disease type X1Aug 22, 2017
    Glycogen storage disease, type II1Apr 20, 2020
    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
    Growth delay due to insulin-like growth factor I resistance1Apr 20, 2020
    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
    Harel-Yoon syndrome1Apr 20, 2020
    Hb SS disease1Mar 13, 2018
    Hearing loss3Aug 22, 2017
    Helsmoortel-Van der Aa Syndrome1Apr 20, 2020
    Hemiplegia-hemiconvulsion-epilepsy syndrome1Jan 30, 2019
    Hepatic veno-occlusive disease-immunodeficiency syndrome1Mar 13, 2018
    Hereditary Paraganglioma-Pheochromocytoma Syndromes1Aug 22, 2017
    Hereditary breast and ovarian cancer syndrome4Mar 13, 2018
    Hereditary cancer4Aug 22, 2017
    Hereditary cancer-predisposing syndrome1Apr 20, 2020
    Hereditary diffuse leukoencephalopathy with spheroids1Apr 20, 2020
    Hereditary factor XI deficiency disease1Apr 20, 2020
    Hereditary fructosuria1Mar 13, 2018
    Hereditary insensitivity to pain with anhidrosis1Aug 22, 2017
    Hereditary leiomyomatosis and renal cell cancer2Apr 20, 2020
    Hereditary liability to pressure palsies1Jan 30, 2019
    Hereditary motor and sensory neuropathy, Okinawa type1Jan 30, 2019
    Hereditary nonpolyposis colon cancer1Apr 20, 2020
    Hereditary nonpolyposis colorectal cancer type 51Jan 30, 2019
    Hereditary nonpolyposis colorectal cancer type 81Apr 20, 2020
    Hereditary nonpolyposis colorectal neoplasms1Aug 22, 2017
    Hereditary pancreatitis1Aug 22, 2017
    Hereditary sensory and autonomic neuropathy type IC1Aug 22, 2017
    Hereditary sensory and autonomic neuropathy type IIC2Apr 20, 2020
    Hereditary spastic paraplegia 73Mar 13, 2018
    Hereditary spastic paraplegia 9A1Aug 22, 2017
    Heterotopia, periventricular, autosomal recessive1Aug 22, 2017
    Hirschsprung disease 21Mar 13, 2018
    Hutchinson-Gilford syndrome2Jan 30, 2019
    Hyperammonemia, type III1Aug 22, 2017
    Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3Apr 20, 2020
    Hyperphosphatasia with mental retardation syndrome 21Mar 13, 2018
    Hypertrophic cardiomyopathy4Jan 30, 2019
    Hypertrophic cardiomyopathy 251Jan 30, 2019
    Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis2Mar 13, 2018
    Hypobetalipoproteinemia, familial, 11Mar 13, 2018
    Hypochondroplasia1Mar 13, 2018
    Hypogonadism with anosmia1Apr 20, 2020
    Hypomyelinating leukodystrophy 31Mar 13, 2018
    Hypomyelination, global cerebral1Mar 13, 2018
    Hypoparathyroidism-deafness-renal disease syndrome1Mar 13, 2018
    Hypophosphatasia1Mar 13, 2018
    Hypophosphatemia1Jan 30, 2019
    Hypotonia, ataxia, and delayed development syndrome1Jan 30, 2019
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Apr 20, 2020
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Apr 20, 2020
    Hypotrichosis 61Mar 13, 2018
    IGF1R-Related Disorder1Jan 30, 2019
    IL1RAPL1-Related Disorder1Aug 22, 2017
    ISPD-Related Disorder1Apr 20, 2020
    Ichthyosis prematurity syndrome1Jan 30, 2019
    Ichthyosis vulgaris2Jan 30, 2019
    Imerslund-Gräsbeck syndrome1Aug 22, 2017
    Immunodeficiency 31C1Jan 30, 2019
    Immunodeficiency 31a1Jan 30, 2019
    Immunodeficiency 361Mar 13, 2018
    Infantile convulsions and choreoathetosis1Apr 20, 2020
    Infantile cortical hyperostosis1Apr 20, 2020
    Infantile encephalopathy2Aug 22, 2017
    Intellectual developmental disorder and retinitis pigmentosa; IDDRP2Apr 20, 2020
    Intellectual developmental disorder with cardiac arrhythmia2Mar 13, 2018
    Intellectual disability6Apr 20, 2020
    Intellectual disability, autosomal dominant 92Apr 20, 2020
    Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1Jan 30, 2019
    Intellectual disability-developmental delay-contractures syndrome1Mar 13, 2018
    Irido-corneo-trabecular dysgenesis1Jul 17, 2020
    Juvenile myoclonic epilepsy2Mar 13, 2018
    KANK1- Related Disorder1Mar 13, 2018
    KBG syndrome2Aug 22, 2017
    KCNQ2-Related Disorders1Apr 20, 2020
    Kabuki syndrome 13Apr 20, 2020
    Kenny-Caffey syndrome type 21Apr 20, 2020
    Keppen-Lubinsky syndrome1Mar 13, 2018
    Kufor-Rakeb syndrome2Mar 13, 2018
    LOX-Related Disorder1Jan 30, 2019
    LRP4-Related Disorder1Apr 20, 2020
    LTBP2-related Disorder1Aug 22, 2017
    LZTR1-Related Disorder1Aug 22, 2017
    Laminin alpha 2-related dystrophy3Apr 20, 2020
    Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia2Mar 13, 2018
    Leber's optic atrophy3Apr 20, 2020
    Left ventricular noncompaction1Apr 20, 2020
    Leigh syndrome4Mar 13, 2018
    Lennox-Gastaut syndrome1Apr 20, 2020
    Lethal multiple pterygium syndrome1Aug 22, 2017
    Leukodystrophy, hypomyelinating, 61Apr 20, 2020
    Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3Mar 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 2A2Apr 20, 2020
    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 C22Jan 30, 2019
    Lissencephaly1Apr 20, 2020
    Lissencephaly 31Mar 13, 2018
    Lissencephaly due to LIS1 mutation1Mar 13, 2018
    Loeys-Dietz syndrome2Aug 22, 2017
    Loeys-Dietz syndrome 31Jan 30, 2019
    Long QT syndrome3Aug 22, 2017
    Long QT syndrome 11Aug 22, 2017
    Long QT syndrome 22Apr 20, 2020
    Lynch syndrome7Apr 20, 2020
    Lynch syndrome II1Mar 13, 2018
    MARS-Related Disorder2Mar 13, 2018
    MASS syndrome1Jan 30, 2019
    MATR3-Related Disorder1Aug 22, 2017
    MECP2-Related Disorder1Apr 20, 2020
    MED13L-Related Disorder1Apr 20, 2020
    MEF2C-Related Disorder1Aug 22, 2017
    MEIS2-related disorder1Aug 22, 2017
    MPDU1-CDG1Jan 30, 2019
    MPI-CDG1Mar 13, 2018
    MSL3-Related Disorder1Apr 20, 2020
    MYH-associated polyposis1Mar 13, 2018
    MYH2-related myopathy1Mar 13, 2018
    MYH7-Related Disorders1Apr 20, 2020
    MYH7-related late-onset scapuloperoneal muscular dystrophy1Apr 20, 2020
    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
    Majeed syndrome1Mar 13, 2018
    Malignant hyperthermia susceptibility1Aug 22, 2017
    Malignant hyperthermia, susceptibility to, 14Apr 20, 2020
    Malignant tumor of breast1Jan 30, 2019
    Mannose-binding protein deficiency1Aug 22, 2017
    Maple syrup urine disease type 1B1Apr 20, 2020
    Marfan syndrome5Apr 20, 2020
    Marshall syndrome1Apr 20, 2020
    Maturity-onset diabetes of the young, type 21Apr 20, 2020
    Medium-chain acyl-coenzyme A dehydrogenase deficiency1Mar 13, 2018
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Jan 30, 2019
    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, X-linked 991Apr 20, 2020
    Mental retardation, autosomal dominant 11Nov 17, 2017
    Mental retardation, autosomal dominant 131Apr 20, 2020
    Mental retardation, autosomal dominant 41Mar 13, 2018
    Mental retardation, autosomal dominant 571Apr 20, 2020
    Mental retardation, autosomal dominant 61Apr 21, 2020
    Mental retardation, autosomal recessive 11Aug 22, 2017
    Mental retardation, autosomal recessive 131Mar 13, 2018
    Mental retardation, autosomal recessive 181Aug 22, 2017
    Mental retardation, autosomal recessive 51Apr 20, 2020
    Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations3Jan 30, 2019
    Mental retardation, syndromic, Claes-Jensen type, X-linked2Apr 20, 2020
    Mercaptolactate-cysteine disulfiduria1Jan 30, 2019
    Merosin deficient congenital muscular dystrophy6Jan 30, 2019
    Metachromatic leukodystrophy2Apr 20, 2020
    Methylmalonic aciduria and homocystinuria type cblF2Jan 30, 2019
    Microcephalic osteodysplastic primordial dwarfism type II1Mar 13, 2018
    Microcephaly, normal intelligence and immunodeficiency1Apr 20, 2020
    Minicore myopathy with external ophthalmoplegia3Apr 20, 2020
    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)1Apr 20, 2020
    Mitochondrial DNA depletion syndrome, hepatocerebral form2Apr 20, 2020
    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 1 deficiency, nuclear type 51Apr 20, 2020
    Mitochondrial complex I deficiency4Mar 13, 2018
    Mitochondrial complex IV deficiency3Aug 22, 2017
    Mitochondrial-DNA disorder1Mar 13, 2018
    Miyoshi muscular dystrophy 11Jan 30, 2019
    Miyoshi muscular dystrophy 33Mar 13, 2018
    Mucopolysaccharidosis type 11Apr 20, 2020
    Mucopolysaccharidosis, MPS-IV-B1Mar 13, 2018
    Multiminicore Disease1Aug 22, 2017
    Multiple endocrine neoplasia, type 12Apr 20, 2020
    Multiple endocrine neoplasia, type 2a1Aug 22, 2017
    Multiple exostoses type 21Apr 20, 2020
    Multiple fibrofolliculomas2Aug 22, 2017
    Muscle AMP deaminase deficiency1Aug 22, 2017
    Muscular dystrophy2Aug 22, 2017
    Muscular dystrophy, congenital, due to integrin alpha-7 deficiency2Apr 20, 2020
    Myasthenic syndrome, congenital, 81Apr 20, 2020
    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 with postural muscle atrophy, X-linked1Apr 20, 2020
    Myopathy, centronuclear, 21Mar 13, 2018
    Myopathy, distal, 41Mar 13, 2018
    Myopathy, distal, with anterior tibial onset1Jan 30, 2019
    Myopathy, early-onset, with fatal cardiomyopathy4Apr 20, 2020
    Myopathy, isolated mitochondrial, autosomal dominant1Mar 13, 2018
    Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1Mar 13, 2018
    Myopathy, myofibrillar, 9, with early respiratory failure7Apr 20, 2020
    Myosin storage myopathy1Apr 20, 2020
    NARP syndrome1Mar 13, 2018
    NFIA-related disorders1Jan 30, 2019
    NOTCH1-Related Disorders1Mar 13, 2018
    NRXN-Related Disorder1Aug 22, 2017
    Nemaline myopathy1Aug 22, 2017
    Nemaline myopathy 21Apr 20, 2020
    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
    Neurodegeneration with brain iron accumulation 81Jan 30, 2019
    Neurodevelopmental and congenital anomalies1Jan 30, 2019
    Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1Apr 20, 2020
    Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Apr 20, 2020
    Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Apr 20, 2020
    Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Apr 20, 2020
    Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1Apr 20, 2020
    Neurofibromatosis, type 14Apr 20, 2020
    Neuronal ceroid lipofuscinosis 11Jan 30, 2019
    Neuronal ceroid lipofuscinosis 51Apr 20, 2020
    Neuronal ceroid lipofuscinosis 81Aug 22, 2017
    Neuropathy, hereditary sensory and autonomic, type VII2Apr 20, 2020
    Nicolaides-Baraitser syndrome1Apr 20, 2020
    Niemann-Pick disease type C11Aug 22, 2017
    Niemann-Pick disease, type C21Mar 13, 2018
    Non-syndromic intellectual disability1Mar 13, 2018
    Nonsyndromic Hearing Loss, Recessive1Aug 22, 2017
    Noonan syndrome1Mar 13, 2018
    Noonan syndrome 101Apr 20, 2020
    Noonan syndrome 61Mar 13, 2018
    Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Apr 20, 2020
    Norman-Roberts syndrome1Mar 13, 2018
    Optic atrophy1Mar 13, 2018
    Optic atrophy 31Mar 13, 2018
    Osteocraniostenosis1Apr 20, 2020
    Osteogenesis imperfecta2Jan 30, 2019
    Osteogenesis imperfecta type 71Apr 20, 2020
    Osteogenesis imperfecta type 81Apr 20, 2020
    Osteogenesis imperfecta type I3Apr 20, 2020
    Osteogenesis imperfecta, recessive perinatal lethal1Mar 13, 2018
    Oto-palato-digital syndrome, type I1Aug 22, 2017
    Oto-palato-digital syndrome, type II1Aug 22, 2017
    Otospondylomegaepiphyseal dysplasia, autosomal dominant3Apr 20, 2020
    Otospondylomegaepiphyseal dysplasia, autosomal recessive3Apr 20, 2020
    PHIP-Related Disorder1Jan 30, 2019
    PHIP-Related disorders1Jan 30, 2019
    PIGT-related disorder3Apr 21, 2020
    PINK1-Related Parkinsonism1Aug 22, 2017
    PLOD3-Related Disorder1Apr 20, 2020
    POLG- Related Disorder1Mar 13, 2018
    POLG- Related Disorders1Mar 13, 2018
    POLG-related disorders4Jan 30, 2019
    POLR3B-Related Disorder1Apr 20, 2020
    PPP2R1A-related disorder1Jan 30, 2019
    PPP2R2B-Related Disorder1Apr 20, 2020
    Palmoplantar keratoderma-esophageal carcinoma syndrome1Apr 20, 2020
    Pancreatic agenesis and congenital heart disease1Apr 20, 2020
    Pancreatitis1Jan 30, 2019
    Paragangliomas 41Mar 13, 2018
    Parkinson disease, late-onset1Jan 30, 2019
    Partial androgen insensitivity syndrome1Apr 20, 2020
    Periodic fever syndrome1Aug 22, 2017
    Peripheral neuropathy, myopathy, hoarseness, and hearing loss1Apr 20, 2020
    Periventricular nodular heterotopia 13Jan 30, 2019
    Permanent neonatal diabetes mellitus1Apr 20, 2020
    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
    Phenylketonuria2Mar 13, 2018
    Pheochromocytoma1Mar 13, 2018
    Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1Aug 22, 2017
    Pitt-Hopkins-like syndrome 12Apr 20, 2020
    Pituitary hormone deficiency, combined, 11Mar 13, 2018
    Plasma fibronectin deficiency1Mar 13, 2018
    Polycystic kidney disease 21Jan 30, 2019
    Polycystic kidney disease, adult type2Jan 30, 2019
    Polycythemia vera1Mar 13, 2018
    Polyglandular autoimmune syndrome, type 11Apr 20, 2020
    Polymerase proofreading associated polyposis1Apr 20, 2020
    Polymicrogyria1Apr 20, 2020
    Pontocerebellar hypoplasia type 1A1Mar 13, 2018
    Pontocerebellar hypoplasia, type 1c1Mar 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 cardiomyopathy4Apr 20, 2020
    Primary hyperoxaluria, type II1Mar 13, 2018
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Mar 13, 2018
    Progressive sclerosing poliodystrophy2Mar 13, 2018
    Propionic acidemia1Mar 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
    Qualitative or quantitative defects of dysferlin1Aug 22, 2017
    RPE65-Related Disorders2Apr 20, 2020
    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, with hemolytic anemia1Mar 13, 2018
    Renier-Gabreels-Jasper syndrome1Apr 20, 2020
    Retinitis pigmentosa2Apr 20, 2020
    Retinitis pigmentosa 311Jan 30, 2019
    Retinitis pigmentosa 402Jan 30, 2019
    Rett syndrome1Apr 20, 2020
    Rett syndrome, congenital variant1Apr 20, 2020
    Rh-null, regulator type1Apr 20, 2020
    Roussy-Lévy syndrome1Jan 30, 2019
    Rubinstein-Taybi syndrome 11Aug 22, 2017
    Rubinstein-Taybi syndrome due to 16p13.3 microdeletion2Apr 20, 2020
    SATB2-Related Disorder1Mar 13, 2018
    SCN10A-Related Disorder1Aug 22, 2017
    SCN1B-Related Disorder1Mar 13, 2018
    SCN2A-related disorder2Apr 20, 2020
    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
    SOX2-Related Disorder1Apr 20, 2020
    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
    Schaaf-Yang syndrome1Apr 20, 2020
    Schizophrenia1Mar 13, 2018
    Schuurs-hoeijmakers syndrome1Jan 30, 2019
    Seckel syndrome 51Mar 13, 2018
    Seizure disorder1Nov 17, 2017
    Seizures1Apr 20, 2020
    Seizures, benign familial infantile, 21Apr 20, 2020
    Seizures, benign familial infantile, 32Apr 20, 2020
    Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome2Mar 13, 2018
    Severe combined immunodeficiency disease1Aug 22, 2017
    Severe myoclonic epilepsy in infancy2Nov 18, 2020
    Short stature, brachydactyly, intellectual developmental disability, and seizures2Mar 13, 2018
    Short stature, developmental delay, and congenital heart defects1Mar 13, 2018
    Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Aug 22, 2017
    Sick sinus syndrome1Aug 22, 2017
    Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1Nov 17, 2017
    Singleton-Merten syndrome 11Apr 20, 2020
    Sjögren-Larsson syndrome1Jan 30, 2019
    Smith-Kingsmore syndrome2Apr 20, 2020
    Smith-Lemli-Opitz syndrome2Apr 20, 2020
    Smith-Magenis syndrome1Apr 20, 2020
    Spastic paraplegia 11, autosomal recessive2Apr 20, 2020
    Spastic paraplegia 30, autosomal recessive2Apr 20, 2020
    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 recessive3Apr 20, 2020
    Spastic paraplegia 57, autosomal recessive1Jan 30, 2019
    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
    Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Apr 20, 2020
    Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1Mar 13, 2018
    Spinocerebellar ataxia 421Apr 20, 2020
    Spinocerebellar ataxia 471Apr 20, 2020
    Spinocerebellar ataxia type 15/161Mar 13, 2018
    Spinocerebellar ataxia type 261Aug 22, 2017
    Spinocerebellar ataxia type 291Mar 13, 2018
    Spinocerebellar ataxia type 52Mar 13, 2018
    Spinocerebellar ataxia type 61Jan 30, 2019
    Spinocerebellar ataxia, autosomal recessive 121Jan 30, 2019
    Spinocerebellar ataxia, autosomal recessive 142Mar 13, 2018
    Spinocerebellar ataxia, autosomal recessive 82Apr 20, 2020
    Spondylometaphyseal dysplasia, megarbane-dagher-melki type1Mar 13, 2018
    Stankiewicz-Isidor syndrome1Apr 20, 2020
    Stargardt disease5Apr 20, 2020
    Stargardt disease 12Aug 22, 2017
    Stickler syndrome type 21Apr 20, 2020
    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
    Syndromic X-linked intellectual disability Siderius type1Aug 22, 2017
    Syndromic X-linked intellectual disability Turner type1Apr 20, 2020
    TANGO2-Related disorder1Aug 22, 2017
    TBL1XR1-Related Disorder2Apr 20, 2020
    TERT-associated disorder1Aug 22, 2017
    TLK2-Related Disorder1Jan 30, 2019
    TRAF7-Related Disorder1Apr 20, 2020
    TSC2-Related Disorder1Aug 22, 2017
    TTN-Related Disorders4Apr 20, 2020
    TTN-Related disorder1Aug 22, 2017
    Tatton-Brown-rahman syndrome3Apr 20, 2020
    Thiamine-responsive megaloblastic anemia1Aug 22, 2017
    Thoracic aortic dissection1Aug 22, 2017
    Thrombocythemia 31Mar 13, 2018
    Tibial muscular dystrophy6Mar 13, 2018
    Transposition of the great arteries, dextro-looped 11Aug 22, 2017
    Treacher Collins syndrome 11Mar 13, 2018
    Tuberous sclerosis 11Jan 30, 2019
    Tuberous sclerosis syndrome1Aug 22, 2017
    Turcot syndrome3Apr 20, 2020
    Type 2 diabetes mellitus2Apr 20, 2020
    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 13Apr 20, 2020
    Ullrich congenital muscular dystrophy 21Apr 20, 2020
    Undetermined early-onset epileptic encephalopathy1Apr 20, 2020
    Usher syndrome type 12Apr 20, 2020
    Usher syndrome type 1D2Jan 30, 2019
    Verheij syndrome1Mar 13, 2018
    Visceral heterotaxy 5, autosomal1Mar 13, 2018
    Vitelliform macular dystrophy 11Aug 22, 2017
    Waardenburg syndrome type 4A1Mar 13, 2018
    Warsaw breakage syndrome2Mar 13, 2018
    Weill-Marchesani syndrome1Jan 30, 2019
    Werner syndrome1Apr 20, 2020
    Wilson disease6Apr 20, 2020
    Wolfram syndrome 13Mar 13, 2018
    Wolfram-like syndrome, autosomal dominant3Mar 13, 2018
    X-linked intellectual disability syndrome1Aug 22, 2017
    X-linked intellectual disability-hypotonic face syndrome1Aug 22, 2017
    Xia-Gibbs syndrome2Jan 30, 2019
    alpha Thalassemia1Apr 20, 2020
    beta Thalassemia1Mar 13, 2018
    mtDNA-related disorders1Aug 22, 2017
    not provided476Apr 20, 2020
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