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GenomeConnect - Invitae Patient Insights Network

General information

GenomeConnect - Invitae Patient Insights Network

Lewisburg
Pennsylvania
United States - 17837
https://pin.invitae.com/
Organization ID: 508034

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 1256

    Gene

    GeneSubmissionsLast Updated
    AARS11Dec 29, 2023
    ABCA42Apr 26, 2021
    ABCD13Dec 29, 2023
    ABRAXAS11Apr 26, 2021
    ACADS1Apr 26, 2021
    ACADSB1Apr 26, 2021
    ACBD52Apr 26, 2021
    ACD1Apr 26, 2021
    ACTA22Dec 29, 2023
    ACTC11Dec 29, 2023
    ADAM171Apr 26, 2021
    ADAMTS25Dec 29, 2023
    ADAMTSL41Apr 26, 2021
    ADAMTSL4-AS21Apr 26, 2021
    ADAR1Apr 26, 2021
    ADGRA31Apr 26, 2021
    ADGRV12Apr 26, 2021
    ADSL1Dec 29, 2023
    AGL1Apr 26, 2021
    AGRN3Dec 29, 2023
    AIMP11Dec 29, 2023
    AIP1Dec 29, 2023
    AIRE3Apr 26, 2021
    AKAP91Dec 29, 2023
    ALDH18A11Dec 29, 2023
    ALG11Dec 29, 2023
    ALK2Dec 29, 2023
    ALMS11Dec 29, 2023
    ALPL3Dec 29, 2023
    ANK21Sep 28, 2023
    ANK31Dec 29, 2023
    ANO55Dec 29, 2023
    AOPEP1Dec 29, 2023
    AP3B11Apr 26, 2021
    APC12Dec 29, 2023
    APC21Sep 28, 2023
    ARHGEF182Dec 29, 2023
    ARID1A1Dec 29, 2023
    ARID1B1Dec 29, 2023
    ARL13B1Apr 26, 2021
    ARSA1Apr 26, 2021
    ASH1L1Dec 29, 2023
    ASRGL11Dec 29, 2023
    ASTN21Apr 26, 2021
    ATL12Dec 29, 2023
    ATM45Dec 29, 2023
    ATP13A21Dec 29, 2023
    ATP2A13Dec 29, 2023
    ATP7A1Dec 29, 2023
    ATP7B3Dec 29, 2023
    ATR2Dec 29, 2023
    AXIN25Dec 29, 2023
    B3GALNT21Dec 29, 2023
    B4GALNT11Apr 26, 2021
    B4GAT11Apr 26, 2021
    BAP11Dec 29, 2023
    BARD112Dec 29, 2023
    BBS11Dec 29, 2023
    BBS41Apr 26, 2021
    BICD21Apr 26, 2021
    BIN11Dec 29, 2023
    BLM1Apr 26, 2021
    BLOC1S61Apr 26, 2021
    BMPR1A2Dec 29, 2023
    BRCA115Dec 29, 2023
    BRCA245Dec 29, 2023
    BRIP112Dec 29, 2023
    BTD1Apr 26, 2021
    C11orf6521Dec 29, 2023
    CACNA1A2Dec 29, 2023
    CACNA1H1Dec 29, 2023
    CACNA1S1Apr 26, 2021
    CACNA2D42Apr 26, 2021
    CAPN32Apr 26, 2021
    CAPN51Apr 26, 2021
    CARD112Apr 26, 2021
    CARD141Apr 26, 2021
    CARS21Apr 26, 2021
    CASR4Dec 29, 2023
    CBS1Apr 26, 2021
    CCDC782Apr 26, 2021
    CCDC88A1Dec 29, 2023
    CD2471Apr 26, 2021
    CDH114Dec 29, 2023
    CDH233Dec 29, 2023
    CDH23-AS11Apr 26, 2021
    CDKAL11Sep 28, 2023
    CDKL51Dec 29, 2023
    CDKN1C1Dec 29, 2023
    CDKN2A4Dec 29, 2023
    CEBPA2Sep 28, 2023
    CEP1041Sep 28, 2023
    CEP1521Sep 28, 2023
    CEP1642Dec 29, 2023
    CEP2901Dec 29, 2023
    CEP831Dec 29, 2023
    CFP1Apr 26, 2021
    CFTR4Dec 29, 2023
    CFTR-AS12Dec 29, 2023
    CHD21Apr 26, 2021
    CHD73Dec 29, 2023
    CHEK225Dec 29, 2023
    CHIT11Apr 26, 2021
    CHRNB11Apr 26, 2021
    CHRNB21Apr 26, 2021
    CIITA1Dec 29, 2023
    CLCC11Dec 29, 2023
    CLCN18Dec 29, 2023
    CLN81Sep 28, 2023
    CLPB1Apr 26, 2021
    CNGB11Apr 26, 2021
    CNGB31Apr 26, 2021
    CNTN13Sep 28, 2023
    CNTNAP21Apr 26, 2021
    COASY1Apr 26, 2021
    COL12A115Dec 29, 2023
    COL17A11Sep 28, 2023
    COL1A14Sep 28, 2023
    COL1A23Apr 26, 2021
    COL2A11Apr 26, 2021
    COL3A15Dec 29, 2023
    COL4A41Apr 26, 2021
    COL4A51Apr 26, 2021
    COL5A110Dec 29, 2023
    COL5A25Dec 29, 2023
    COL6A13Dec 29, 2023
    COL6A23Dec 29, 2023
    COL6A34Dec 29, 2023
    COL7A12Apr 26, 2021
    COL9A11Dec 29, 2023
    COPA1Dec 29, 2023
    CPS11Dec 29, 2023
    CPT22Dec 29, 2023
    CR22Dec 29, 2023
    CRB11Apr 26, 2021
    CREBBP2Apr 26, 2021
    CRTAP1Apr 26, 2021
    CSF2RA1Apr 26, 2021
    CTNNA12Dec 29, 2023
    CUBN1Dec 29, 2023
    CUL71Sep 28, 2023
    CYBA1Apr 26, 2021
    CYBB1Apr 26, 2021
    CYP7B12Dec 29, 2023
    D2HGDH1Dec 29, 2023
    DAG12Apr 26, 2021
    DCLRE1C1Dec 29, 2023
    DCTN14Apr 26, 2021
    DES1Dec 29, 2023
    DHX381Apr 26, 2021
    DICER15Dec 29, 2023
    DIS3L22Dec 29, 2023
    DLD1Dec 29, 2023
    DLX61Dec 29, 2023
    DLX6-AS11Dec 29, 2023
    DMD1Apr 26, 2021
    DNAAF22Dec 29, 2023
    DNAH11Apr 26, 2021
    DNAH113Dec 29, 2023
    DNAH81Sep 28, 2023
    DNAH8-AS11Sep 28, 2023
    DNAJB21Apr 26, 2021
    DNM21Apr 26, 2021
    DNMT11Apr 26, 2021
    DOCK23Sep 28, 2023
    DOCK82Dec 29, 2023
    DOK71Apr 26, 2021
    DSP2Dec 29, 2023
    DST5Dec 29, 2023
    DYNC1H14Dec 29, 2023
    DYNC2H11Sep 28, 2023
    DYNC2I11Dec 29, 2023
    DYSF3Sep 6, 2023
    EDA1Sep 28, 2023
    EEF1A21Apr 26, 2021
    EGFR3Dec 29, 2023
    ELP11Apr 26, 2021
    ENG1Apr 26, 2021
    ENTPD11Dec 29, 2023
    ENTPD1-AS11Dec 29, 2023
    EPG52Dec 29, 2023
    ERCC41Apr 26, 2021
    ESR21Dec 29, 2023
    EXOSC21Dec 29, 2023
    FANCA3Sep 28, 2023
    FANCC3Dec 29, 2023
    FANCD21Apr 26, 2021
    FANCG1Dec 29, 2023
    FANCI2Dec 29, 2023
    FANCM2Apr 26, 2021
    FAT41Sep 28, 2023
    FBN18Dec 29, 2023
    FBXO382Sep 6, 2023
    FERMT31Apr 26, 2021
    FGD42Dec 29, 2023
    FGFR11Dec 29, 2023
    FGFR31Dec 29, 2023
    FH3Dec 29, 2023
    FIG43Dec 29, 2023
    FKRP1Dec 29, 2023
    FLCN2Dec 29, 2023
    FLNA2Dec 29, 2023
    FLNC4Apr 26, 2021
    FLNC-AS11Apr 26, 2021
    FLVCR11Apr 26, 2021
    FSCN21Dec 29, 2023
    FZD41Dec 29, 2023
    G6PC31Apr 26, 2021
    G6PD2Apr 26, 2021
    GAA5Apr 26, 2021
    GALC1Apr 26, 2021
    GAN1Sep 28, 2023
    GARS11Apr 26, 2021
    GATA23Dec 29, 2023
    GATAD12Dec 29, 2023
    GCDH1Dec 29, 2023
    GDAP12Dec 29, 2023
    GEN11Dec 29, 2023
    GFI11Dec 29, 2023
    GH-LCR3Dec 29, 2023
    GJB11Dec 29, 2023
    GJC21Apr 26, 2021
    GJD2-DT1Dec 29, 2023
    GLA2Dec 29, 2023
    GLRA11Dec 29, 2023
    GNB41Dec 29, 2023
    GNE2Dec 29, 2023
    GNRHR1Sep 28, 2023
    GPHN2Dec 29, 2023
    GPR1792Dec 29, 2023
    GPSM21Apr 26, 2021
    GRIN2A1Dec 29, 2023
    GRIN2D1Dec 29, 2023
    GUCY2D1Apr 26, 2021
    HARS11Apr 26, 2021
    HCCS1Sep 28, 2023
    HDAC41Sep 28, 2023
    HFE2Apr 26, 2021
    HFE-AS11Apr 26, 2021
    HMBS2Apr 26, 2021
    HPRT11Apr 26, 2021
    HRAS1Apr 26, 2021
    HSPB11Apr 26, 2021
    IFIH13Apr 26, 2021
    IFNAR11Dec 29, 2023
    IFT1401Apr 26, 2021
    IFT1722Dec 29, 2023
    IFT801Dec 29, 2023
    IGHMBP24Dec 29, 2023
    IGLL11Apr 26, 2021
    IL10RA1Apr 26, 2021
    IL12RB12Apr 26, 2021
    IL36RN1Sep 28, 2023
    IL6R1Dec 29, 2023
    IMPG12Dec 29, 2023
    INF21Apr 26, 2021
    IQSEC21Apr 26, 2021
    IRAK41Apr 26, 2021
    IRF2BP21Apr 26, 2021
    ITGA71Apr 26, 2021
    JAK31Dec 29, 2023
    KCNA21Dec 29, 2023
    KCNJ21Apr 26, 2021
    KCNMA12Dec 29, 2023
    KCNQ21Dec 29, 2023
    KCNQ31Dec 29, 2023
    KCNT11Dec 29, 2023
    KCTD71Dec 29, 2023
    KIF111Dec 29, 2023
    KIF1A1Apr 26, 2021
    KIF71Dec 29, 2023
    KIT3Dec 29, 2023
    KLHL401Dec 29, 2023
    KLLN1Apr 26, 2021
    KMT2A1Dec 29, 2023
    KMT2C1Apr 26, 2021
    KMT2D1Apr 26, 2021
    KRTCAP31Dec 29, 2023
    L2HGDH1Dec 29, 2023
    LAMA22Dec 29, 2023
    LCA52Apr 26, 2021
    LCT1Dec 29, 2023
    LDB31Dec 29, 2023
    LDLR2Apr 26, 2021
    LIAS2Apr 26, 2021
    LIG42Apr 26, 2021
    LIPT11Dec 29, 2023
    LMNA3Dec 29, 2023
    LOC1014482021Dec 29, 2023
    LOC1019280081Dec 29, 2023
    LOC1027235661Apr 26, 2021
    LOC1027240581Apr 26, 2021
    LOC1053691491Dec 29, 2023
    LOC1073033381Apr 26, 2021
    LOC1073033402Apr 26, 2021
    LOC1101214861Dec 29, 2023
    LOC1148278271Apr 26, 2021
    LOC1268061731Dec 29, 2023
    LOC1268062111Sep 28, 2023
    LOC1268064221Sep 28, 2023
    LOC1268066521Dec 29, 2023
    LOC1268621241Dec 29, 2023
    LOC1268623911Apr 26, 2021
    LOC1268625714Dec 29, 2023
    LOC1268628641Dec 29, 2023
    LOC1268631601Apr 26, 2021
    LOC1268632751Apr 26, 2021
    LOC1293909031Apr 26, 2021
    LOC1293911062Apr 26, 2021
    LOC1299343331Apr 26, 2021
    LOC1299966921Dec 29, 2023
    LOC1299968811Dec 29, 2023
    LOC1299985331Dec 29, 2023
    LOC1299997361Apr 26, 2021
    LOC1300033741Dec 29, 2023
    LOC1300035571Apr 26, 2021
    LOC1300042732Dec 29, 2023
    LOC1300050971Dec 29, 2023
    LOC1300062351Apr 26, 2021
    LOC1300089871Apr 26, 2021
    LOC1300092661Apr 26, 2021
    LOC1300095731Sep 28, 2023
    LOC1300096622Dec 29, 2023
    LOC1300555421Sep 28, 2023
    LOC1300594981Sep 28, 2023
    LRBA3Dec 29, 2023
    LRP21Dec 29, 2023
    LRP41Dec 29, 2023
    LRP51Apr 26, 2021
    LRRC561Apr 26, 2021
    LRSAM13Dec 29, 2023
    LYST4Dec 29, 2023
    LZTR12Dec 29, 2023
    MAGT11Dec 29, 2023
    MAPKAPK31Apr 26, 2021
    MAX1Apr 26, 2021
    MCCC21Apr 26, 2021
    MED122Sep 28, 2023
    MED251Dec 29, 2023
    MEFV3Sep 28, 2023
    MEN13Dec 29, 2023
    MET3Apr 26, 2021
    MFN23Dec 29, 2023
    MITD11Dec 29, 2023
    MITF1Apr 26, 2021
    MLH110Sep 28, 2023
    MMAB1Apr 26, 2021
    MNX11Apr 26, 2021
    MOCS11Apr 26, 2021
    MORC21Dec 29, 2023
    MPDZ2Apr 26, 2021
    MPZ2Dec 29, 2023
    MRE111Apr 26, 2021
    MSH212Dec 29, 2023
    MSH34Dec 29, 2023
    MSH617Dec 29, 2023
    MTOR2Dec 29, 2023
    MUSK3Dec 29, 2023
    MUTYH11Dec 29, 2023
    MYBPC35Dec 29, 2023
    MYH151Sep 28, 2023
    MYH31Sep 28, 2023
    MYH72Dec 29, 2023
    MYLK3Dec 29, 2023
    MYO18B2Dec 29, 2023
    MYO191Dec 29, 2023
    MYO7A1Sep 28, 2023
    NAGA1Apr 26, 2021
    NAGLU1Apr 26, 2021
    NBAS1Apr 26, 2021
    NBN10Dec 29, 2023
    NDRG12Dec 29, 2023
    NEB7Dec 29, 2023
    NEK41Sep 28, 2023
    NEXMIF1Sep 28, 2023
    NF113Dec 29, 2023
    NF21Apr 26, 2021
    NFAT51Apr 26, 2021
    NGLY11Apr 26, 2021
    NHEJ12Apr 26, 2021
    NIN1Sep 28, 2023
    NLRP11Dec 29, 2023
    NLRP121Apr 26, 2021
    NOD24Apr 26, 2021
    NOP101Dec 29, 2023
    NOTCH16Dec 29, 2023
    NPHP42Sep 28, 2023
    NPPA1Apr 26, 2021
    NPPA-AS11Apr 26, 2021
    NPR21Apr 26, 2021
    NPRL31Apr 26, 2021
    NTHL19Dec 29, 2023
    NTRK11Dec 29, 2023
    OPA31Dec 29, 2023
    OPN1SW2Dec 29, 2023
    ORAI12Apr 26, 2021
    PALB215Dec 29, 2023
    PARN1Apr 26, 2021
    PCCB1Dec 29, 2023
    PCDH191Apr 26, 2021
    PDE6B2Dec 29, 2023
    PDE6C1Apr 26, 2021
    PDGFRA3Dec 29, 2023
    PDZD71Apr 26, 2021
    PEX12Dec 29, 2023
    PEX21Sep 28, 2023
    PGAP11Dec 29, 2023
    PGM31Apr 26, 2021
    PHYH1Dec 29, 2023
    PIGQ1Dec 29, 2023
    PIGW1Dec 29, 2023
    PIK3CD1Apr 26, 2021
    PLCG21Dec 29, 2023
    PLEC9Dec 29, 2023
    PLEKHG53Apr 26, 2021
    PLOD11Apr 26, 2021
    PMM21Apr 26, 2021
    PMP222Dec 29, 2023
    PMS215Dec 29, 2023
    PNLDC11Sep 28, 2023
    PNPLA22Dec 29, 2023
    PNPLA31Sep 28, 2023
    PNPLA63Dec 29, 2023
    PNPO2Dec 29, 2023
    POLD111Dec 29, 2023
    POLE16Dec 29, 2023
    POLG4Dec 29, 2023
    POLGARF4Dec 29, 2023
    POMGNT11Apr 26, 2021
    POMK1Dec 29, 2023
    POMT21Apr 26, 2021
    PORCN1Dec 29, 2023
    POT14Dec 29, 2023
    PRDM132Dec 29, 2023
    PRKAG21Dec 29, 2023
    PRKCD1Apr 26, 2021
    PRKDC2Dec 29, 2023
    PROM13Dec 29, 2023
    PROS11Dec 29, 2023
    PRPF81Apr 26, 2021
    PRPH21Apr 26, 2021
    PRX2Dec 29, 2023
    PSMG21Dec 29, 2023
    PSTPIP11Sep 28, 2023
    PTCH12Dec 29, 2023
    PTEN3Dec 29, 2023
    PTPRC4Dec 29, 2023
    PYGL1Dec 29, 2023
    RAD5017Dec 29, 2023
    RAD51C5Sep 28, 2023
    RAD51D4Dec 29, 2023
    RAD51L3-RFFL4Dec 29, 2023
    RAG21Dec 29, 2023
    RBM201Apr 26, 2021
    RBP32Apr 26, 2021
    RDH122Dec 29, 2023
    RECQL44Dec 29, 2023
    RELN1Apr 26, 2021
    RET4Dec 29, 2023
    RFXAP1Sep 28, 2023
    RHO3Dec 29, 2023
    RHOBTB21Dec 29, 2023
    RIF12Dec 29, 2023
    RIGI1Apr 26, 2021
    RIMS11Apr 26, 2021
    RINT11Apr 26, 2021
    RNASEH2C1Apr 26, 2021
    RPL36A-HNRNPH22Dec 29, 2023
    RPS6KA31Apr 26, 2021
    RS11Dec 29, 2023
    RUNX12Sep 28, 2023
    RXYLT11Dec 29, 2023
    RYR111Dec 29, 2023
    RYR24Dec 29, 2023
    RYR31Dec 29, 2023
    SAMHD11Apr 26, 2021
    SBF24Dec 29, 2023
    SBF2-AS11Dec 29, 2023
    SCN10A3Apr 26, 2021
    SCN11A4Dec 29, 2023
    SCN1A2Dec 29, 2023
    SCN1A-AS17Dec 29, 2023
    SCN1B1Dec 29, 2023
    SCN4A4Dec 29, 2023
    SCN5A4Dec 29, 2023
    SCN9A8Dec 29, 2023
    SDHA9Dec 29, 2023
    SDHD1Dec 29, 2023
    SERAC11Dec 29, 2023
    SERPINA11Apr 26, 2021
    SETX2Dec 29, 2023
    SGCB1Apr 26, 2021
    SH3TC23Dec 29, 2023
    SLC22A53Dec 29, 2023
    SLC34A31Apr 26, 2021
    SLC39A131Apr 26, 2021
    SLC52A21Dec 29, 2023
    SLC52A32Dec 29, 2023
    SLITRK61Sep 28, 2023
    SLX42Dec 29, 2023
    SMAD42Dec 29, 2023
    SMAD61Apr 26, 2021
    SMARCA44Dec 29, 2023
    SMARCAL11Apr 26, 2021
    SMC1A2Dec 29, 2023
    SMN11Apr 26, 2021
    SPART1Sep 28, 2023
    SPAST1Apr 26, 2021
    SPATA72Dec 29, 2023
    SPG1113Dec 29, 2023
    SPG73Dec 29, 2023
    SPINK12Dec 29, 2023
    SPINK51Apr 26, 2021
    SPINT21Dec 29, 2023
    SPTLC21Apr 26, 2021
    STAT11Dec 29, 2023
    STAT21Apr 26, 2021
    STAT31Dec 29, 2023
    STAT41Apr 26, 2021
    STAT5B1Dec 29, 2023
    STIM12Dec 29, 2023
    STK115Dec 29, 2023
    STX111Apr 26, 2021
    STXBP11Apr 26, 2021
    SUFU1Dec 29, 2023
    SUOX2Dec 29, 2023
    SYNE13Dec 29, 2023
    SYNE23Dec 29, 2023
    SYNJ11Dec 29, 2023
    SZT22Apr 26, 2021
    SZT2-AS11Apr 26, 2021
    TERT1Apr 26, 2021
    TGFB21Dec 29, 2023
    TGFB31Apr 26, 2021
    TH2-LCR2Dec 29, 2023
    TH2LCRR3Dec 29, 2023
    THOC61Sep 28, 2023
    TMC81Dec 29, 2023
    TMEM1271Apr 26, 2021
    TNFRSF13B1Apr 26, 2021
    TNFRSF1A1Dec 29, 2023
    TNFRSF41Apr 26, 2021
    TNFSF112Dec 29, 2023
    TNFSF121Apr 26, 2021
    TNFSF12-TNFSF131Apr 26, 2021
    TNPO31Dec 29, 2023
    TONSL1Apr 26, 2021
    TONSL-AS11Apr 26, 2021
    TP537Dec 29, 2023
    TPP11Dec 29, 2023
    TRDN1Sep 28, 2023
    TRIM21Apr 26, 2021
    TRIM321Apr 26, 2021
    TRIM59-IFT801Dec 29, 2023
    TRPV43Dec 29, 2023
    TSC23Dec 29, 2023
    TSPAN11Apr 26, 2021
    TTC7A2Dec 29, 2023
    TTLL51Dec 29, 2023
    TTN11Dec 29, 2023
    TTN-AS18Dec 29, 2023
    TTR3Apr 26, 2021
    TUBGCP61Apr 26, 2021
    TYK21Dec 29, 2023
    UNC45A1Dec 29, 2023
    UNC93B12Apr 26, 2021
    UNG1Dec 29, 2023
    USH2A3Sep 28, 2023
    VCP1Apr 26, 2021
    VDR1Dec 29, 2023
    VHL3Apr 26, 2021
    VPS13B3Dec 29, 2023
    WASHC51Apr 26, 2021
    WHRN1Apr 26, 2021
    WNK12Dec 29, 2023
    WNT10A2Apr 26, 2021
    WRN4Dec 29, 2023
    WT11Apr 26, 2021
    XRCC21Apr 26, 2021
    YARS11Apr 26, 2021
    ZAP701Apr 26, 2021
    ZBTB241Dec 29, 2023
    ZDHHC241Dec 29, 2023
    ZFYVE261Apr 26, 2021
    ZNF4081Apr 26, 2021
    ZNF4691Sep 28, 2023

    Condition

    NameSubmissionsLast Updated
    11p partial monosomy syndrome1Apr 26, 2021
    3-Methylglutaconic aciduria1Dec 29, 2023
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Dec 29, 2023
    3-methylglutaconic aciduria, type VIIB1Apr 26, 2021
    3M syndrome 11Sep 28, 2023
    AIP-Related Familial Isolated Pituitary Adenomas1Dec 29, 2023
    ALDH18A1-related de Barsy syndrome1Dec 29, 2023
    ALG12-congenital disorder of glycosylation1Dec 29, 2023
    ANO5-related disorder4Sep 28, 2023
    APC-Associated Polyposis Disorders5Dec 29, 2023
    APC-related attenuated familial adenomatous polyposis1Dec 29, 2023
    Achondrogenesis type II1Apr 26, 2021
    Achondroplasia1Dec 29, 2023
    Achromatopsia1Apr 26, 2021
    Achromatopsia 31Apr 26, 2021
    Acrocallosal syndrome1Dec 29, 2023
    Acromesomelic dysplasia 1, Maroteaux type1Apr 26, 2021
    Acromicric dysplasia1Dec 29, 2023
    Actin accumulation myopathy1Dec 29, 2023
    Acute intermittent porphyria2Apr 26, 2021
    Acute lymphoid leukemia1Dec 29, 2023
    Acute myeloid leukemia2Sep 28, 2023
    Adams-Oliver syndrome 21Apr 26, 2021
    Adams-Oliver syndrome 55Dec 29, 2023
    Adenomatous polyp of colon1Dec 29, 2023
    Adenylosuccinate lyase deficiency1Dec 29, 2023
    Adrenoleukodystrophy3Dec 29, 2023
    Agammaglobulinemia 2, autosomal recessive1Apr 26, 2021
    Age-related macular degeneration2Apr 26, 2021
    Aicardi-Goutieres syndrome 31Apr 26, 2021
    Aicardi-Goutieres syndrome 51Apr 26, 2021
    Aicardi-Goutieres syndrome 73Apr 26, 2021
    Alpha-1-antitrypsin deficiency1Apr 26, 2021
    Alpha-N-acetylgalactosaminidase deficiency type 11Apr 26, 2021
    Alpha-N-acetylgalactosaminidase deficiency type 21Apr 26, 2021
    Alpha-N-acetylgalactosaminidase deficiency type 31Apr 26, 2021
    Alstrom syndrome1Dec 29, 2023
    Amyotrophic lateral sclerosis type 14Apr 26, 2021
    Amyotrophic lateral sclerosis type 42Dec 29, 2023
    Amyotrophic lateral sclerosis type 59Dec 29, 2023
    Andersen Tawil syndrome1Apr 26, 2021
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Apr 26, 2021
    Angelman syndrome1Apr 26, 2021
    Angelman syndrome-like1Dec 29, 2023
    Anophthalmia-microphthalmia syndrome1Dec 29, 2023
    Aortic aneurysm, familial thoracic 62Dec 29, 2023
    Aortic aneurysm, familial thoracic 71Dec 29, 2023
    Aortic valve disease 11Dec 29, 2023
    Aortic valve disease 21Apr 26, 2021
    Aortic valve disorder5Apr 26, 2021
    Aplastic anemia1Dec 29, 2023
    Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2Dec 29, 2023
    Arrhythmogenic right ventricular cardiomyopathy1Dec 29, 2023
    Arrhythmogenic right ventricular dysplasia 24Dec 29, 2023
    Arrhythmogenic right ventricular dysplasia 81Dec 29, 2023
    Arthrogryposis multiplex congenita 3, myogenic type1Apr 26, 2021
    Asphyxiating thoracic dystrophy 12Dec 29, 2023
    Asphyxiating thoracic dystrophy 21Dec 29, 2023
    Ataxia-hypogonadism-choroidal dystrophy syndrome2Apr 26, 2021
    Ataxia-telangiectasia syndrome40Dec 29, 2023
    Ataxia-telangiectasia-like disorder1Apr 26, 2021
    Atrial fibrillation, familial, 11Dec 29, 2023
    Atrial fibrillation, familial, 91Apr 26, 2021
    Atrial septal defect 52Dec 29, 2023
    Attenuated familial adenomatous polyposis1Dec 29, 2023
    Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1Dec 29, 2023
    Autoimmune interstitial lung disease-arthritis syndrome1Dec 29, 2023
    Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1Apr 26, 2021
    Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1Dec 29, 2023
    Autosomal dominant Charcot-Marie-Tooth disease type 2K1Dec 29, 2023
    Autosomal dominant Charcot-Marie-Tooth disease type 2M1Apr 26, 2021
    Autosomal dominant Charcot-Marie-Tooth disease type 2W1Apr 26, 2021
    Autosomal dominant centronuclear myopathy1Apr 26, 2021
    Autosomal dominant cerebellar ataxia, deafness and narcolepsy1Apr 26, 2021
    Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Apr 26, 2021
    Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4Dec 29, 2023
    Autosomal dominant hypocalcemia 14Dec 29, 2023
    Autosomal dominant limb-girdle muscular dystrophy type 1F1Dec 29, 2023
    Autosomal dominant neovascular inflammatory vitreoretinopathy1Apr 26, 2021
    Autosomal dominant nocturnal frontal lobe epilepsy 31Apr 26, 2021
    Autosomal dominant nocturnal frontal lobe epilepsy 51Dec 29, 2023
    Autosomal dominant osteopetrosis 11Apr 26, 2021
    Autosomal dominant spastic paraplegia type 91Dec 29, 2023
    Autosomal recessive Alport syndrome1Apr 26, 2021
    Autosomal recessive ataxia, Beauce type2Dec 29, 2023
    Autosomal recessive centronuclear myopathy1Dec 29, 2023
    Autosomal recessive complex spastic paraplegia type 9B1Dec 29, 2023
    Autosomal recessive distal spinal muscular atrophy 14Dec 29, 2023
    Autosomal recessive hypophosphatemic bone disease1Apr 26, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2B2Apr 26, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2E1Apr 26, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2I1Dec 29, 2023
    Autosomal recessive limb-girdle muscular dystrophy type 2J8Dec 29, 2023
    Autosomal recessive limb-girdle muscular dystrophy type 2L1Dec 29, 2023
    Autosomal recessive limb-girdle muscular dystrophy type 2O1Apr 26, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2P2Apr 26, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2Q9Dec 29, 2023
    Autosomal recessive myogenic arthrogryposis multiplex congenita1Dec 29, 2023
    Autosomal recessive nonsyndromic hearing loss 121Dec 29, 2023
    Autosomal recessive nonsyndromic hearing loss 311Apr 26, 2021
    Autosomal recessive osteopetrosis 22Dec 29, 2023
    Autosomal recessive retinitis pigmentosa2Dec 29, 2023
    Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Apr 26, 2021
    Autosomal recessive spastic paraplegia type 781Dec 29, 2023
    Avascular necrosis of femoral head, primary, 11Apr 26, 2021
    BAP1-related tumor predisposition syndrome1Dec 29, 2023
    BENTA disease2Apr 26, 2021
    BRCA2-related disorder24Dec 29, 2023
    BRIP1-related disorder7Dec 29, 2023
    Baller-Gerold syndrome4Dec 29, 2023
    Bannayan-Riley-Ruvalcaba syndrome1Dec 29, 2023
    Bardet-Biedl syndrome2Dec 29, 2023
    Bardet-Biedl syndrome 111Apr 26, 2021
    Bartter disease type 31Dec 29, 2023
    Bartter syndrome with hypocalcemia3Dec 29, 2023
    Becker muscular dystrophy1Apr 26, 2021
    Beckwith-Wiedemann syndrome1Dec 29, 2023
    Bethlem myopathy 1A9Dec 29, 2023
    Bethlem myopathy 213Dec 29, 2023
    Biotinidase deficiency1Apr 26, 2021
    Birt-Hogg-Dube syndrome2Dec 29, 2023
    Blau syndrome3Apr 26, 2021
    Blepharocheilodontic syndrome 11Dec 29, 2023
    Blepharophimosis - intellectual disability syndrome, MKB type2Sep 28, 2023
    Bloom syndrome1Apr 26, 2021
    Blue color blindness1Dec 29, 2023
    Breast cancer, susceptibility to3Dec 29, 2023
    Breast-ovarian cancer, familial, susceptibility to, 11Dec 29, 2023
    Breast-ovarian cancer, familial, susceptibility to, 21Apr 26, 2021
    Breast-ovarian cancer, familial, susceptibility to, 35Sep 28, 2023
    Breast-ovarian cancer, familial, susceptibility to, 44Dec 29, 2023
    Brittle cornea syndrome 11Sep 28, 2023
    Brody myopathy3Dec 29, 2023
    Brown-Vialetto-van Laere syndrome 12Dec 29, 2023
    Brown-Vialetto-van Laere syndrome 21Dec 29, 2023
    Brugada syndrome 12Apr 26, 2021
    Brugada syndrome 51Dec 29, 2023
    CAPN3-related disorder2Apr 26, 2021
    CDH23-related disorder1Dec 29, 2023
    CEP290-related disorder1Dec 29, 2023
    CHARGE association3Dec 29, 2023
    CHEK2-Related Cancer Susceptibility21Dec 29, 2023
    COL12A1-related disorder1Dec 29, 2023
    Café-au-lait macules with pulmonary stenosis10Dec 29, 2023
    Cardiac valvular dysplasia, X-linked1Apr 26, 2021
    Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2Dec 29, 2023
    Carney-Stratakis syndrome1Dec 29, 2023
    Carnitine palmitoyltransferase II deficiency2Dec 29, 2023
    Catecholaminergic polymorphic ventricular tachycardia1Apr 26, 2021
    Catecholaminergic polymorphic ventricular tachycardia 14Dec 29, 2023
    Cenani-Lenz syndactyly syndrome1Dec 29, 2023
    Central core disease, autosomal recessive1Dec 29, 2023
    Central core myopathy6Dec 29, 2023
    Centronuclear myopathy1Dec 29, 2023
    Cerebellar atrophy, developmental delay, and seizures1Dec 29, 2023
    Cernunnos-XLF deficiency2Apr 26, 2021
    Channelopathy-associated congenital insensitivity to pain, autosomal recessive7Dec 29, 2023
    Charcot-Marie-Tooth disease X-linked dominant 11Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2C3Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2K2Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2N1Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2O4Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2P3Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2S4Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2V1Apr 26, 2021
    Charcot-Marie-Tooth disease axonal type 2X13Dec 29, 2023
    Charcot-Marie-Tooth disease axonal type 2Z1Dec 29, 2023
    Charcot-Marie-Tooth disease dominant intermediate B1Apr 26, 2021
    Charcot-Marie-Tooth disease dominant intermediate C2Apr 26, 2021
    Charcot-Marie-Tooth disease dominant intermediate D2Dec 29, 2023
    Charcot-Marie-Tooth disease dominant intermediate E1Apr 26, 2021
    Charcot-Marie-Tooth disease dominant intermediate F1Dec 29, 2023
    Charcot-Marie-Tooth disease recessive intermediate A1Apr 26, 2021
    Charcot-Marie-Tooth disease recessive intermediate C3Apr 26, 2021
    Charcot-Marie-Tooth disease type 1B2Dec 29, 2023
    Charcot-Marie-Tooth disease type 1E1Dec 29, 2023
    Charcot-Marie-Tooth disease type 21Apr 26, 2021
    Charcot-Marie-Tooth disease type 2A22Dec 29, 2023
    Charcot-Marie-Tooth disease type 2B12Apr 26, 2021
    Charcot-Marie-Tooth disease type 2B21Dec 29, 2023
    Charcot-Marie-Tooth disease type 2I2Dec 29, 2023
    Charcot-Marie-Tooth disease type 2J2Dec 29, 2023
    Charcot-Marie-Tooth disease type 2R1Apr 26, 2021
    Charcot-Marie-Tooth disease type 41Apr 26, 2021
    Charcot-Marie-Tooth disease type 4A2Dec 29, 2023
    Charcot-Marie-Tooth disease type 4B24Dec 29, 2023
    Charcot-Marie-Tooth disease type 4C2Apr 26, 2021
    Charcot-Marie-Tooth disease type 4D2Dec 29, 2023
    Charcot-Marie-Tooth disease type 4F2Dec 29, 2023
    Charcot-Marie-Tooth disease type 4H2Dec 29, 2023
    Charcot-Marie-Tooth disease type 4J2Dec 29, 2023
    Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2Dec 29, 2023
    Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2Dec 29, 2023
    Charcot-Marie-Tooth disease, type 2A1Dec 29, 2023
    Charcot-Marie-Tooth disease, type IA2Dec 29, 2023
    Chromosome 1p36 deletion syndrome1Apr 26, 2021
    Chromosome 2q37 deletion syndrome1Sep 28, 2023
    Chronic granulomatous disease, autosomal, due to deficiency of CYBA1Apr 26, 2021
    Chudley-McCullough syndrome1Apr 26, 2021
    Chuvash polycythemia3Apr 26, 2021
    Chédiak-Higashi syndrome4Dec 29, 2023
    Ciliary dyskinesia, primary, 371Apr 26, 2021
    Classic homocystinuria1Apr 26, 2021
    Cockayne syndrome1Apr 26, 2021
    Coffin-Lowry syndrome1Apr 26, 2021
    Coffin-Siris syndrome1Dec 29, 2023
    Coffin-Siris syndrome 11Dec 29, 2023
    Cohen syndrome3Dec 29, 2023
    Collagen 6-related myopathy5Dec 29, 2023
    Colorectal cancer2Dec 29, 2023
    Colorectal cancer, hereditary nonpolyposis, type 25Apr 26, 2021
    Colorectal cancer, susceptibility to, 104Dec 29, 2023
    Colorectal cancer, susceptibility to, 125Dec 29, 2023
    Combined immunodeficiency due to DOCK8 deficiency2Dec 29, 2023
    Combined immunodeficiency due to LRBA deficiency3Dec 29, 2023
    Combined immunodeficiency due to ORAI1 deficiency2Apr 26, 2021
    Combined immunodeficiency due to STIM1 deficiency2Dec 29, 2023
    Combined immunodeficiency due to ZAP70 deficiency1Apr 26, 2021
    Combined immunodeficiency with skin granulomas1Dec 29, 2023
    Combined oxidative phosphorylation defect type 271Apr 26, 2021
    Compton-North congenital myopathy3Sep 28, 2023
    Cone dystrophy 41Apr 26, 2021
    Cone-rod dystrophy 121Apr 26, 2021
    Cone-rod dystrophy 191Dec 29, 2023
    Cone-rod dystrophy 32Apr 26, 2021
    Cone-rod dystrophy 61Apr 26, 2021
    Congenital Muscular Dystrophy, LAMA2-related1Dec 29, 2023
    Congenital Stationary Night Blindness, Dominant1Dec 29, 2023
    Congenital bilateral absence of vas deferens1Dec 29, 2023
    Congenital bilateral aplasia of vas deferens from CFTR mutation3Dec 29, 2023
    Congenital bile acid synthesis defect 32Dec 29, 2023
    Congenital disorder of deglycosylation1Apr 26, 2021
    Congenital hyperammonemia, type I1Dec 29, 2023
    Congenital lactase deficiency1Dec 29, 2023
    Congenital multicore myopathy with external ophthalmoplegia1Apr 26, 2021
    Congenital muscular dystrophy due to LMNA mutation3Dec 29, 2023
    Congenital muscular dystrophy due to integrin alpha-7 deficiency1Apr 26, 2021
    Congenital muscular hypertrophy-cerebral syndrome1Apr 26, 2021
    Congenital myasthenic syndrome 101Apr 26, 2021
    Congenital myasthenic syndrome 163Dec 29, 2023
    Congenital myasthenic syndrome 4C1Apr 26, 2021
    Congenital myasthenic syndrome 82Apr 26, 2021
    Congenital myasthenic syndrome 93Dec 29, 2023
    Congenital myopathy with fiber type disproportion5Dec 29, 2023
    Congenital myopathy with internal nuclei and atypical cores2Apr 26, 2021
    Congenital myotonia, autosomal dominant form8Dec 29, 2023
    Congenital myotonia, autosomal recessive form7Dec 29, 2023
    Congenital sodium diarrhea1Dec 29, 2023
    Congenital stationary night blindness1Dec 29, 2023
    Congenital stationary night blindness 1E2Dec 29, 2023
    Congenital stationary night blindness autosomal dominant 12Apr 26, 2021
    Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1Dec 29, 2023
    Cornelia de Lange syndrome 11Dec 29, 2023
    Cortical dysplasia-focal epilepsy syndrome1Apr 26, 2021
    Costello syndrome1Apr 26, 2021
    Cowden syndrome1Dec 29, 2023
    Craniosynostosis 71Apr 26, 2021
    Crohn disease1Apr 26, 2021
    Crouzon syndrome-acanthosis nigricans syndrome1Dec 29, 2023
    Currarino triad1Apr 26, 2021
    Cutis laxa, X-linked1Dec 29, 2023
    Cutis laxa, autosomal dominant 31Dec 29, 2023
    Cystic fibrosis3Dec 29, 2023
    D-2-hydroxyglutaric aciduria 11Dec 29, 2023
    DICER1-related tumor predisposition4Dec 29, 2023
    DLD-related disorder1Dec 29, 2023
    DNA ligase IV deficiency1Apr 26, 2021
    DOCK2 deficiency3Sep 28, 2023
    DYSF-related disorder1Sep 6, 2023
    Deafness-lymphedema-leukemia syndrome3Dec 29, 2023
    Deficiency of 2-methylbutyryl-CoA dehydrogenase1Apr 26, 2021
    Deficiency of the interleukin-36 receptor antagonist1Sep 28, 2023
    Desmin-related myofibrillar myopathy2Dec 29, 2023
    Developmental and epileptic encephalopathy 941Apr 26, 2021
    Developmental and epileptic encephalopathy, 14Dec 29, 2023
    Developmental and epileptic encephalopathy, 141Dec 29, 2023
    Developmental and epileptic encephalopathy, 182Apr 26, 2021
    Developmental and epileptic encephalopathy, 21Dec 29, 2023
    Developmental and epileptic encephalopathy, 291Dec 29, 2023
    Developmental and epileptic encephalopathy, 331Apr 26, 2021
    Developmental and epileptic encephalopathy, 41Apr 26, 2021
    Developmental and epileptic encephalopathy, 422Dec 29, 2023
    Developmental and epileptic encephalopathy, 461Dec 29, 2023
    Developmental and epileptic encephalopathy, 641Dec 29, 2023
    Developmental and epileptic encephalopathy, 771Dec 29, 2023
    Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Dec 29, 2023
    Developmental and epileptic encephalopathy, 91Apr 26, 2021
    Dilated cardiomyopathy 1A1Apr 26, 2021
    Dilated cardiomyopathy 1C1Dec 29, 2023
    Dilated cardiomyopathy 1E1Apr 26, 2021
    Dilated cardiomyopathy 1GG1Dec 29, 2023
    Dilated cardiomyopathy 1I1Dec 29, 2023
    Dilated cardiomyopathy 1R2Dec 29, 2023
    Dilated cardiomyopathy 3B1Apr 26, 2021
    Distal hereditary motor neuropathy type 21Sep 6, 2023
    Distal myopathy with anterior tibial onset2Apr 26, 2021
    Distal myopathy with posterior leg and anterior hand involvement4Apr 26, 2021
    Donnai-Barrow syndrome1Dec 29, 2023
    Drash syndrome1Apr 26, 2021
    Duchenne muscular dystrophy1Apr 26, 2021
    Dyskeratosis congenita, autosomal dominant 21Apr 26, 2021
    Dyskeratosis congenita, autosomal dominant 61Apr 26, 2021
    Dyskeratosis congenita, autosomal recessive 11Dec 29, 2023
    Dyskeratosis congenita, autosomal recessive 61Apr 26, 2021
    Dystonia 272Apr 26, 2021
    EGFR-related lung cancer2Dec 29, 2023
    Ectopia lentis 1, isolated, autosomal dominant6Dec 29, 2023
    Ectopia lentis et pupillae1Apr 26, 2021
    Ehlers-Danlos syndrome, arthrochalasia type4Apr 26, 2021
    Ehlers-Danlos syndrome, cardiac valvular type3Apr 26, 2021
    Ehlers-Danlos syndrome, classic type3Dec 29, 2023
    Ehlers-Danlos syndrome, classic type, 110Dec 29, 2023
    Ehlers-Danlos syndrome, classic type, 24Dec 29, 2023
    Ehlers-Danlos syndrome, dermatosparaxis type5Dec 29, 2023
    Ehlers-Danlos syndrome, kyphoscoliotic type 11Apr 26, 2021
    Ehlers-Danlos syndrome, spondylocheirodysplastic type1Apr 26, 2021
    Ehlers-Danlos syndrome, type 45Dec 29, 2023
    Ehlers-danlos syndrome, arthrochalasia type, 23Sep 28, 2023
    Emery-Dreifuss muscular dystrophy 2, autosomal dominant2Apr 26, 2021
    Emery-Dreifuss muscular dystrophy 3, autosomal recessive2Apr 26, 2021
    Emery-Dreifuss muscular dystrophy 4, autosomal dominant2Dec 29, 2023
    Emery-Dreifuss muscular dystrophy 5, autosomal dominant3Dec 29, 2023
    Endometrial carcinoma1Dec 29, 2023
    Epidermodysplasia verruciformis, susceptibility to, 11Dec 29, 2023
    Epidermolysis bullosa dystrophica2Apr 26, 2021
    Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency5Dec 29, 2023
    Epidermolysis bullosa simplex 5B, with muscular dystrophy9Dec 29, 2023
    Epidermolysis bullosa simplex 5C, with pyloric atresia8Dec 29, 2023
    Epidermolysis bullosa simplex, Ogna type6Dec 29, 2023
    Episodic ataxia type 22Dec 29, 2023
    Episodic pain syndrome, familial, 22Apr 26, 2021
    Epithelial recurrent erosion dystrophy1Sep 28, 2023
    Exudative vitreoretinopathy 41Apr 26, 2021
    Exudative vitreoretinopathy 61Apr 26, 2021
    FG syndrome1Sep 28, 2023
    FG syndrome 11Apr 26, 2021
    FLNA-related disorder1Dec 29, 2023
    Fabry disease2Dec 29, 2023
    Facial dysmorphism-immunodeficiency-livedo-short stature syndrome14Dec 29, 2023
    Familial Mediterranean fever2Sep 28, 2023
    Familial Mediterranean fever, autosomal dominant2Sep 28, 2023
    Familial adenomatous polyposis 15Dec 29, 2023
    Familial adenomatous polyposis 211Dec 29, 2023
    Familial adenomatous polyposis 38Dec 29, 2023
    Familial adenomatous polyposis 43Dec 29, 2023
    Familial amyloid neuropathy3Apr 26, 2021
    Familial cancer of breast43Dec 29, 2023
    Familial cold autoinflammatory syndrome 31Dec 29, 2023
    Familial colorectal cancer16Dec 29, 2023
    Familial dysautonomia1Apr 26, 2021
    Familial episodic pain syndrome with predominantly lower limb involvement4Dec 29, 2023
    Familial exudative vitreoretinopathy1Dec 29, 2023
    Familial hemophagocytic lymphohistiocytosis1Apr 26, 2021
    Familial hypercholesterolemia1Apr 26, 2021
    Familial hypocalciuric hypercalcemia3Dec 29, 2023
    Familial hypocalciuric hypercalcemia 11Dec 29, 2023
    Familial hypoparathyroidism1Dec 29, 2023
    Familial melanoma1Apr 26, 2021
    Familial ovarian cancer2Dec 29, 2023
    Familial partial lipodystrophy, Dunnigan type2Apr 26, 2021
    Familial temporal lobe epilepsy 71Apr 26, 2021
    Familial thoracic aortic aneurysm and aortic dissection8Dec 29, 2023
    Fanconi anemia complementation group A3Sep 28, 2023
    Fanconi anemia complementation group C3Dec 29, 2023
    Fanconi anemia complementation group D120Dec 29, 2023
    Fanconi anemia complementation group D21Apr 26, 2021
    Fanconi anemia complementation group G1Dec 29, 2023
    Fanconi anemia complementation group I2Dec 29, 2023
    Fanconi anemia complementation group J4Dec 29, 2023
    Fanconi anemia complementation group N8Dec 29, 2023
    Fanconi anemia complementation group O3Sep 28, 2023
    Fanconi anemia complementation group P2Dec 29, 2023
    Fanconi anemia complementation group Q1Apr 26, 2021
    Febrile seizures, familial, 12Dec 29, 2023
    Fetal akinesia deformation sequence 13Dec 29, 2023
    Fetal akinesia deformation sequence 31Apr 26, 2021
    Fetal akinesia-cerebral and retinal hemorrhage syndrome1Apr 26, 2021
    Focal dermal hypoplasia1Dec 29, 2023
    Focal segmental glomerulosclerosis 51Apr 26, 2021
    Frasier syndrome1Apr 26, 2021
    Fumarase deficiency2Dec 29, 2023
    GARS-Associated Axonal Neuropathy1Apr 26, 2021
    GNE myopathy2Dec 29, 2023
    Galactosylceramide beta-galactosidase deficiency1Apr 26, 2021
    Gamma-aminobutyric acid transaminase deficiency1Apr 26, 2021
    Gastrointestinal defect and immunodeficiency syndrome1Dec 29, 2023
    Gastrointestinal stromal tumor4Dec 29, 2023
    Geleophysic dysplasia 22Dec 29, 2023
    Generalized epilepsy with febrile seizures plus5Dec 29, 2023
    Generalized epilepsy with febrile seizures plus, type 11Dec 29, 2023
    Generalized epilepsy with febrile seizures plus, type 22Dec 29, 2023
    Generalized epilepsy with febrile seizures plus, type 71Dec 29, 2023
    Generalized epilepsy-paroxysmal dyskinesia syndrome2Dec 29, 2023
    Generalized juvenile polyposis/juvenile polyposis coli2Dec 29, 2023
    Giant axonal neuropathy 11Sep 28, 2023
    Glioma susceptibility 11Dec 29, 2023
    Glutaric aciduria, type 11Dec 29, 2023
    Glycogen storage disease, type II3Apr 26, 2021
    Glycogen storage disease, type VI1Dec 29, 2023
    Gnathodiaphyseal dysplasia1Dec 29, 2023
    Gorlin syndrome3Dec 29, 2023
    Granulomatous disease, chronic, X-linked1Apr 26, 2021
    Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1Dec 29, 2023
    Hartsfield-Bixler-Demyer syndrome1Dec 29, 2023
    Hearing loss, autosomal recessive 571Apr 26, 2021
    Heimler syndrome 11Dec 29, 2023
    Hennekam lymphangiectasia-lymphedema syndrome 21Sep 28, 2023
    Hereditary breast ovarian cancer syndrome32Dec 29, 2023
    Hereditary cancer-predisposing syndrome9Dec 29, 2023
    Hereditary diffuse gastric adenocarcinoma13Dec 29, 2023
    Hereditary hemochromatosis2Apr 26, 2021
    Hereditary hemorrhagic telangiectasia2Sep 28, 2023
    Hereditary hyperekplexia1Dec 29, 2023
    Hereditary insensitivity to pain with anhidrosis1Dec 29, 2023
    Hereditary leiomyomatosis and renal cell cancer3Dec 29, 2023
    Hereditary liability to pressure palsies2Dec 29, 2023
    Hereditary motor and sensory neuropathy with optic atrophy1Sep 28, 2023
    Hereditary nonpolyposis colon cancer5Dec 29, 2023
    Hereditary pancreatitis4Dec 29, 2023
    Hereditary pheochromocytoma-paraganglioma3Dec 29, 2023
    Hereditary sensory and autonomic neuropathy type 65Dec 29, 2023
    Hereditary sensory and autonomic neuropathy type 74Dec 29, 2023
    Hereditary sensory neuropathy-deafness-dementia syndrome1Apr 26, 2021
    Hereditary spastic paraplegia 1113Dec 29, 2023
    Hereditary spastic paraplegia 151Apr 26, 2021
    Hereditary spastic paraplegia 261Apr 26, 2021
    Hereditary spastic paraplegia 392Apr 26, 2021
    Hereditary spastic paraplegia 3A2Dec 29, 2023
    Hereditary spastic paraplegia 41Apr 26, 2021
    Hereditary spastic paraplegia 441Apr 26, 2021
    Hereditary spastic paraplegia 5A2Dec 29, 2023
    Hereditary spastic paraplegia 641Dec 29, 2023
    Hereditary spastic paraplegia 73Dec 29, 2023
    Hereditary spastic paraplegia 81Apr 26, 2021
    Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12Sep 28, 2023
    Hermansky-Pudlak syndrome 21Apr 26, 2021
    Hermansky-Pudlak syndrome 91Apr 26, 2021
    Herpes simplex encephalitis, susceptibility to, 12Apr 26, 2021
    Heterotopia, periventricular, X-linked dominant1Apr 26, 2021
    High myopia-sensorineural deafness syndrome1Sep 28, 2023
    Hirschsprung disease, susceptibility to, 14Dec 29, 2023
    Histiocytic medullary reticulosis1Apr 26, 2021
    Holoprosencephaly 71Apr 26, 2021
    Hutchinson-Gilford syndrome2Apr 26, 2021
    Hydrocephalus, nonsyndromic, autosomal recessive 22Apr 26, 2021
    Hydrolethalus syndrome1Dec 29, 2023
    Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Dec 29, 2023
    Hyper-IgE recurrent infection syndrome 5, autosomal recessive1Dec 29, 2023
    Hyper-IgM syndrome type 51Dec 29, 2023
    Hyperaldosteronism, familial, type IV1Dec 29, 2023
    Hyperkalemic periodic paralysis4Dec 29, 2023
    Hyperphosphatasia with intellectual disability syndrome 51Dec 29, 2023
    Hypertrophic cardiomyopathy 11Apr 26, 2021
    Hypertrophic cardiomyopathy 112Dec 29, 2023
    Hypertrophic cardiomyopathy 262Apr 26, 2021
    Hypertrophic cardiomyopathy 43Dec 29, 2023
    Hypochondroplasia1Dec 29, 2023
    Hypogonadotropic hypogonadism1Sep 28, 2023
    Hypogonadotropic hypogonadism 2 with or without anosmia1Dec 29, 2023
    Hypogonadotropic hypogonadism 5 with or without anosmia2Dec 29, 2023
    Hypohidrotic X-linked ectodermal dysplasia1Sep 28, 2023
    Hypokalemic periodic paralysis, type 11Apr 26, 2021
    Hypokalemic periodic paralysis, type 24Dec 29, 2023
    Hypomyelinating leukodystrophy 21Apr 26, 2021
    Hypomyelinating leukodystrophy 31Dec 29, 2023
    Hypophosphatasia3Dec 29, 2023
    IMAGe syndrome1Dec 29, 2023
    Idiopathic generalized epilepsy1Dec 29, 2023
    Imerslund-Grasbeck syndrome1Dec 29, 2023
    Immunodeficiency 1044Dec 29, 2023
    Immunodeficiency 11b with atopic dermatitis2Apr 26, 2021
    Immunodeficiency 141Apr 26, 2021
    Immunodeficiency 231Apr 26, 2021
    Immunodeficiency 251Apr 26, 2021
    Immunodeficiency 31B1Dec 29, 2023
    Immunodeficiency 351Dec 29, 2023
    Immunodeficiency 671Apr 26, 2021
    Immunodeficiency, common variable, 11Apr 26, 2021
    Immunodeficiency, common variable, 21Apr 26, 2021
    Immunodeficiency-centromeric instability-facial anomalies syndrome 21Dec 29, 2023
    Inclusion body myopathy with Paget disease of bone and frontotemporal dementia1Apr 26, 2021
    Infantile cortical hyperostosis3Sep 28, 2023
    Infantile epileptic dyskinetic encephalopathy1Apr 26, 2021
    Infantile liver failure syndrome 21Apr 26, 2021
    Inflammatory bowel disease 11Apr 26, 2021
    Inflammatory bowel disease 281Apr 26, 2021
    Inflammatory skin and bowel disease, neonatal, 11Apr 26, 2021
    Intellectual developmental disorder, autosomal recessive 741Sep 28, 2023
    Intellectual disability, X-linked 11Apr 26, 2021
    Intellectual disability, autosomal dominant 133Dec 29, 2023
    Intellectual disability, autosomal dominant 141Dec 29, 2023
    Intellectual disability, autosomal dominant 162Dec 29, 2023
    Intellectual disability, autosomal dominant 521Dec 29, 2023
    Intellectual disability, autosomal recessive 581Dec 29, 2023
    Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Dec 29, 2023
    Interstitial lung disease 21Apr 26, 2021
    Isolated ectopia lentis1Apr 26, 2021
    Joubert syndrome 251Sep 28, 2023
    Joubert syndrome 321Dec 29, 2023
    Joubert syndrome 81Apr 26, 2021
    Junctional epidermolysis bullosa with pyloric atresia1Apr 26, 2021
    Junctional epidermolysis bullosa, non-Herlitz type1Sep 28, 2023
    Juvenile amyotrophic lateral sclerosis5Dec 29, 2023
    Juvenile polyposis syndrome1Apr 26, 2021
    Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1Dec 29, 2023
    KCNQ2-related disorder1Dec 29, 2023
    Kabuki syndrome 11Apr 26, 2021
    Kleefstra syndrome 21Apr 26, 2021
    Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome2Dec 29, 2023
    Kniest dysplasia1Apr 26, 2021
    Kufor-Rakeb syndrome1Dec 29, 2023
    L-2-hydroxyglutaric aciduria1Dec 29, 2023
    LAMA2-related muscular dystrophy1Apr 26, 2021
    LIG4-related disorder1Apr 26, 2021
    Landau-Kleffner syndrome1Dec 29, 2023
    Late-onset junctional epidermolysis bullosa1Sep 28, 2023
    Laurence-Moon syndrome2Apr 26, 2021
    Leber congenital amaurosis2Apr 26, 2021
    Leber congenital amaurosis 11Apr 26, 2021
    Leber congenital amaurosis 132Dec 29, 2023
    Leber congenital amaurosis 81Apr 26, 2021
    Left ventricular noncompaction 14Dec 29, 2023
    Left ventricular noncompaction 41Apr 26, 2021
    Legg-Calve-Perthes disease1Apr 26, 2021
    Lesch-Nyhan syndrome1Apr 26, 2021
    Leukocyte adhesion deficiency 31Apr 26, 2021
    Li-Fraumeni syndrome1Dec 29, 2023
    Li-Fraumeni syndrome 13Dec 29, 2023
    Li-Fraumeni syndrome 21Dec 29, 2023
    Limb-girdle muscular dystrophy due to POMK deficiency1Dec 29, 2023
    Linear nevus sebaceous syndrome1Apr 26, 2021
    Linear skin defects with multiple congenital anomalies 11Sep 28, 2023
    Lipoic acid synthetase deficiency2Apr 26, 2021
    Lipoyl transferase 1 deficiency1Dec 29, 2023
    Loeys-Dietz syndrome 41Dec 29, 2023
    Long QT syndrome 31Apr 26, 2021
    Long QT syndrome 41Sep 28, 2023
    Lung cancer1Dec 29, 2023
    Lymphatic malformation 31Apr 26, 2021
    Lynch syndrome16Dec 29, 2023
    Lynch syndrome 13Dec 29, 2023
    Lynch syndrome 46Apr 26, 2021
    Lynch syndrome 58Dec 29, 2023
    MASS syndrome6Sep 28, 2023
    MHC class II deficiency2Dec 29, 2023
    MSH3-related attenuated familial adenomatous polyposis1Apr 26, 2021
    MYBPC3-related disorder2Apr 26, 2021
    MYH3-related disorder1Sep 28, 2023
    MYH7-related disorder1Dec 29, 2023
    MYO7A-related disorder1Sep 28, 2023
    Malignant hyperthermia, susceptibility to, 16Dec 29, 2023
    Malignant hyperthermia, susceptibility to, 51Apr 26, 2021
    Malignant tumor of breast23Dec 29, 2023
    Malignant tumor of prostate3Dec 29, 2023
    Mandibular hypoplasia-deafness-progeroid syndrome11Dec 29, 2023
    Mandibuloacral dysplasia with type A lipodystrophy1Apr 26, 2021
    Marfan syndrome7Dec 29, 2023
    Mastocytosis2Dec 29, 2023
    Megacystis, microcolon, hypoperistalsis syndrome1Dec 29, 2023
    Melanoma and neural system tumor syndrome3Dec 29, 2023
    Melanoma, cutaneous malignant, susceptibility to, 12Dec 29, 2023
    Melanoma, cutaneous malignant, susceptibility to, 81Apr 26, 2021
    Melanoma-pancreatic cancer syndrome4Dec 29, 2023
    Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1Apr 26, 2021
    Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1Dec 29, 2023
    Menkes kinky-hair syndrome1Dec 29, 2023
    Metachromatic leukodystrophy1Apr 26, 2021
    Methylmalonic aciduria, cblB type1Apr 26, 2021
    Microcephaly 9, primary, autosomal recessive1Sep 28, 2023
    Microcephaly and chorioretinopathy 11Apr 26, 2021
    Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Dec 29, 2023
    Microcephaly, normal intelligence and immunodeficiency9Dec 29, 2023
    Migraine, familial hemiplegic, 11Dec 29, 2023
    Migraine, familial hemiplegic, 32Dec 29, 2023
    Mismatch repair cancer syndrome 118Dec 29, 2023
    Mismatch repair cancer syndrome 24Dec 29, 2023
    Mismatch repair cancer syndrome 31Dec 29, 2023
    Mismatch repair cancer syndrome 48Dec 29, 2023
    Mitochondrial complex II deficiency, nuclear type 17Dec 29, 2023
    Miyoshi muscular dystrophy 31Dec 29, 2023
    Miyoshi myopathy2Apr 26, 2021
    Monocytopenia with susceptibility to infections3Dec 29, 2023
    Mucopolysaccharidosis, MPS-III-B1Apr 26, 2021
    Muenke syndrome1Dec 29, 2023
    Muir-Torré syndrome2Sep 28, 2023
    Multiminicore myopathy5Dec 29, 2023
    Multiple endocrine neoplasia1Sep 28, 2023
    Multiple endocrine neoplasia type 2A4Dec 29, 2023
    Multiple endocrine neoplasia type 2B1Apr 26, 2021
    Multiple endocrine neoplasia, type 12Dec 29, 2023
    Multiple gastrointestinal atresias1Sep 28, 2023
    Multisystemic smooth muscle dysfunction syndrome1Dec 29, 2023
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131Apr 26, 2021
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Apr 26, 2021
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Dec 29, 2023
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A92Apr 26, 2021
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Dec 29, 2023
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Dec 29, 2023
    Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31Apr 26, 2021
    Muscular dystrophy-dystroglycanopathy type B51Dec 29, 2023
    Myhre syndrome1Dec 29, 2023
    Myofibrillar myopathy 41Dec 29, 2023
    Myofibrillar myopathy 54Apr 26, 2021
    Myopathy, RYR1-associated2Apr 26, 2021
    Myopathy, centronuclear, 22Dec 29, 2023
    Myopathy, myofibrillar, 9, with early respiratory failure7Dec 29, 2023
    Myopathy, tubular aggregate, 13Dec 29, 2023
    Myopathy, tubular aggregate, 21Apr 26, 2021
    NLRP12-related disorder1Apr 26, 2021
    NPHP4-related disorder1Sep 28, 2023
    NTHL1-related disorder1Apr 26, 2021
    Nebulin-related early-onset distal myopathy1Apr 26, 2021
    Nemaline myopathy 25Dec 29, 2023
    Nemaline myopathy 81Dec 29, 2023
    Neonatal severe primary hyperparathyroidism4Dec 29, 2023
    Neoplasm of ovary1Dec 29, 2023
    Neoplasm of stomach1Apr 26, 2021
    Nephronophthisis1Dec 29, 2023
    Nephronophthisis 152Dec 29, 2023
    Nephronophthisis 41Apr 26, 2021
    Netherton syndrome1Apr 26, 2021
    Neuroblastoma, susceptibility to, 32Dec 29, 2023
    Neurodegeneration with brain iron accumulation 61Apr 26, 2021
    Neurodevelopmental disorder, MTOR related2Dec 29, 2023
    Neurofibromatosis, type 113Dec 29, 2023
    Neurofibromatosis, type 21Apr 26, 2021
    Neurofibromatosis-Noonan syndrome11Dec 29, 2023
    Neuronal ceroid lipofuscinosis 11Dec 29, 2023
    Neuronal ceroid lipofuscinosis 21Dec 29, 2023
    Neuronal ceroid lipofuscinosis 81Sep 28, 2023
    Neuronopathy, distal hereditary motor, autosomal dominant 81Apr 26, 2021
    Neuronopathy, distal hereditary motor, autosomal recessive 43Apr 26, 2021
    Neuronopathy, distal hereditary motor, autosomal recessive 51Apr 26, 2021
    Neuronopathy, distal hereditary motor, type 2D1Apr 26, 2021
    Neuronopathy, distal hereditary motor, type 7B3Apr 26, 2021
    Neuropathy, hereditary sensory and autonomic, type 1C1Apr 26, 2021
    Neuropathy, hereditary sensory and autonomic, type 2A9Dec 29, 2023
    Neuropathy, hereditary sensory, type 1D2Dec 29, 2023
    Neutral lipid storage myopathy2Dec 29, 2023
    Neutropenia, severe congenital, 2, autosomal dominant1Dec 29, 2023
    Nijmegen breakage syndrome-like disorder15Dec 29, 2023
    Noonan syndrome 101Apr 26, 2021
    Noonan syndrome 21Dec 29, 2023
    Norman-Roberts syndrome1Apr 26, 2021
    North Carolina macular dystrophy1Dec 29, 2023
    Odonto-onycho-dermal dysplasia2Apr 26, 2021
    Oligodontia-cancer predisposition syndrome5Dec 29, 2023
    Oligosynaptic infertility1Apr 26, 2021
    Optic atrophy 31Dec 29, 2023
    Osteogenesis imperfecta7Sep 28, 2023
    Osteogenesis imperfecta type 71Apr 26, 2021
    Osteoglophonic dysplasia1Dec 29, 2023
    Osteoporosis with pseudoglioma1Apr 26, 2021
    Otopalatodigital Spectrum Disorders1Apr 26, 2021
    PALB2-related disorder6Dec 29, 2023
    PDE6B-related disorder1Apr 26, 2021
    PEHO-like syndrome1Dec 29, 2023
    PMM2-congenital disorder of glycosylation2Apr 26, 2021
    POLG-related disorder2Dec 29, 2023
    POMGNT1-related disorder1Apr 26, 2021
    PRKAG2 cardiac syndrome1Dec 29, 2023
    PRPH2-related disorder1Apr 26, 2021
    PTEN hamartoma tumor syndrome2Dec 29, 2023
    Pancreatic cancer, susceptibility to, 32Dec 29, 2023
    Papillary renal cell carcinoma type 11Apr 26, 2021
    Paragangliomas 58Dec 29, 2023
    Paragangliomas with sensorineural hearing loss1Dec 29, 2023
    Paramyotonia congenita of Von Eulenburg4Dec 29, 2023
    Parkinsonism due to ATP13A2 deficiency1Dec 29, 2023
    Paroxysmal extreme pain disorder8Dec 29, 2023
    Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1Apr 26, 2021
    Patterned macular dystrophy 21Apr 26, 2021
    Perlman syndrome2Dec 29, 2023
    Peroxisome biogenesis disorder 1A (Zellweger)1Dec 29, 2023
    Peroxisome biogenesis disorder 5A (Zellweger)1Sep 28, 2023
    Peroxisome biogenesis disorder 5B1Sep 28, 2023
    Perry syndrome4Apr 26, 2021
    Peutz-Jeghers syndrome5Dec 29, 2023
    Pheochromocytoma1Apr 26, 2021
    Phytanic acid storage disease1Dec 29, 2023
    Piebaldism1Apr 26, 2021
    Pityriasis rubra pilaris1Apr 26, 2021
    Platyspondylic dysplasia, Torrance type1Apr 26, 2021
    Pleuropulmonary blastoma1Dec 29, 2023
    Polycystic liver disease 11Apr 26, 2021
    Polyglandular autoimmune syndrome, type 12Apr 26, 2021
    Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome4Dec 29, 2023
    Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal3Dec 29, 2023
    Posterior column ataxia-retinitis pigmentosa syndrome1Apr 26, 2021
    Potassium-aggravated myotonia4Dec 29, 2023
    Prelingual sensorineural hearing impairment1Apr 26, 2021
    Primary ciliary dyskinesia1Sep 28, 2023
    Primary ciliary dyskinesia 101Dec 29, 2023
    Primary ciliary dyskinesia 73Dec 29, 2023
    Primary dilated cardiomyopathy12Dec 29, 2023
    Primary erythromelalgia8Dec 29, 2023
    Primary familial hypertrophic cardiomyopathy2Apr 26, 2021
    Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection1Apr 26, 2021
    Progeroid and marfanoid aspect-lipodystrophy syndrome1Dec 29, 2023
    Progressive bulbar palsy of childhood1Dec 29, 2023
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Dec 29, 2023
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Dec 29, 2023
    Progressive myoclonic epilepsy type 31Dec 29, 2023
    Progressive sclerosing poliodystrophy2Dec 29, 2023
    Properdin deficiency, X-linked1Apr 26, 2021
    Propionic acidemia1Dec 29, 2023
    Pseudohypoaldosteronism type 2C1Dec 29, 2023
    Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41Apr 26, 2021
    Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1Sep 28, 2023
    Pyridoxal phosphate-responsive seizures2Dec 29, 2023
    Qualitative or quantitative defects of dysferlin2Apr 26, 2021
    RYR1-related disorder5Dec 29, 2023
    Rapadilino syndrome4Dec 29, 2023
    Recessive dystrophic epidermolysis bullosa2Apr 26, 2021
    Renal carnitine transport defect3Dec 29, 2023
    Renal cell carcinoma2Apr 26, 2021
    Retinal cone dystrophy 41Apr 26, 2021
    Retinal dystrophy with leukodystrophy2Apr 26, 2021
    Retinal macular dystrophy type 23Dec 29, 2023
    Retinitis pigmentosa2Dec 29, 2023
    Retinitis pigmentosa 121Apr 26, 2021
    Retinitis pigmentosa 131Apr 26, 2021
    Retinitis pigmentosa 192Apr 26, 2021
    Retinitis pigmentosa 321Dec 29, 2023
    Retinitis pigmentosa 392Apr 26, 2021
    Retinitis pigmentosa 42Apr 26, 2021
    Retinitis pigmentosa 413Dec 29, 2023
    Retinitis pigmentosa 451Apr 26, 2021
    Retinitis pigmentosa 662Apr 26, 2021
    Retinitis pigmentosa 711Dec 29, 2023
    Retinitis pigmentosa 781Apr 26, 2021
    Retinitis pigmentosa 801Apr 26, 2021
    Retinitis pigmentosa 841Apr 26, 2021
    Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome1Dec 29, 2023
    Rhabdoid tumor predisposition syndrome 21Dec 29, 2023
    Rienhoff syndrome1Apr 26, 2021
    Ritscher-Schinzel syndrome 11Apr 26, 2021
    Rothmund-Thomson syndrome1Dec 29, 2023
    Rothmund-Thomson syndrome type 22Dec 29, 2023
    Rubinstein-Taybi syndrome1Apr 26, 2021
    SCN5A-related disorder2Dec 29, 2023
    SH3TC2-related disorder1Dec 29, 2023
    SPATA7-related disorder1Dec 29, 2023
    STAT3 gain of function1Dec 29, 2023
    SYNE1-related disorder1Apr 26, 2021
    Saldino-Mainzer syndrome1Apr 26, 2021
    Sarcotubular myopathy1Apr 26, 2021
    SchC6pf-Schulz-Passarge syndrome2Apr 26, 2021
    Schimke immuno-osseous dysplasia1Apr 26, 2021
    Schwannomatosis1Dec 29, 2023
    Schwannomatosis 21Apr 26, 2021
    Seckel syndrome1Sep 28, 2023
    Seckel syndrome 12Dec 29, 2023
    Seckel syndrome 51Sep 28, 2023
    Seizures, benign familial neonatal, 21Dec 29, 2023
    Senior-Loken syndrome 41Apr 26, 2021
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Dec 29, 2023
    Severe combined immunodeficiency due to CARD11 deficiency1Apr 26, 2021
    Severe combined immunodeficiency due to DCLRE1C deficiency2Dec 29, 2023
    Severe combined immunodeficiency due to DNA-PKcs deficiency2Dec 29, 2023
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Dec 29, 2023
    Severe early-childhood-onset retinal dystrophy1Apr 26, 2021
    Severe myoclonic epilepsy in infancy2Dec 29, 2023
    Short QT syndrome type 31Apr 26, 2021
    Short stature with nonspecific skeletal abnormalities1Apr 26, 2021
    Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1Apr 26, 2021
    Short-rib thoracic dysplasia 10 with or without polydactyly1Dec 29, 2023
    Short-rib thoracic dysplasia 8 with or without polydactyly1Dec 29, 2023
    Sialuria1Apr 26, 2021
    Singleton-Merten syndrome 13Apr 26, 2021
    Singleton-Merten syndrome 21Apr 26, 2021
    Small cell carcinoma of the ovary, hypercalcemic type2Dec 29, 2023
    Spinal muscular atrophy1Apr 26, 2021
    Spinocerebellar ataxia type 61Dec 29, 2023
    Spinocerebellar ataxia with epilepsy2Dec 29, 2023
    Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Dec 29, 2023
    Sponastrime dysplasia1Apr 26, 2021
    Spondyloepiphyseal dysplasia with metatarsal shortening1Apr 26, 2021
    Spondyloepiphyseal dysplasia, Stanescu type1Apr 26, 2021
    Spondyloperipheral dysplasia1Apr 26, 2021
    Stickler syndrome type 11Apr 26, 2021
    Stickler syndrome, type 41Dec 29, 2023
    Stiff skin syndrome7Dec 29, 2023
    Stormorken syndrome2Dec 29, 2023
    Sulfite oxidase deficiency2Dec 29, 2023
    Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1Apr 26, 2021
    Surfactant metabolism dysfunction, pulmonary, 41Apr 26, 2021
    Symmetrical dyschromatosis of extremities1Apr 26, 2021
    T-B+ severe combined immunodeficiency due to JAK3 deficiency1Dec 29, 2023
    THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome1Sep 28, 2023
    TNF receptor-associated periodic fever syndrome (TRAPS)1Dec 29, 2023
    TTN-related disorder3Dec 29, 2023
    Tall stature-scoliosis-macrodactyly of the great toes syndrome1Apr 26, 2021
    Thanatophoric dysplasia type 11Dec 29, 2023
    Thrombophilia due to protein S deficiency, autosomal dominant1Dec 29, 2023
    Thrombophilia due to protein S deficiency, autosomal recessive1Dec 29, 2023
    Tibial muscular dystrophy8Dec 29, 2023
    Tooth agenesis, selective, 42Apr 26, 2021
    Trichomegaly-retina pigmentary degeneration-dwarfism syndrome1Dec 29, 2023
    Troyer syndrome1Sep 28, 2023
    Tuberous sclerosis 23Dec 29, 2023
    Tumor predisposition syndrome 32Apr 26, 2021
    Type 2 diabetes mellitus1Sep 28, 2023
    USH2A-related disorder1Sep 28, 2023
    Ullrich congenital muscular dystrophy 1A10Dec 29, 2023
    Ullrich congenital muscular dystrophy 211Dec 29, 2023
    Usher syndrome type 1D2Dec 29, 2023
    Usher syndrome type 2A2Apr 26, 2021
    Usher syndrome type 2C1Apr 26, 2021
    Usher syndrome type 2D1Apr 26, 2021
    Usher syndrome type 31Apr 26, 2021
    Usher syndrome type 3B1Apr 26, 2021
    Usher syndrome, type IIC, GPR98/PDZD7 digenic1Apr 26, 2021
    Van Maldergem syndrome 21Sep 28, 2023
    Vici syndrome2Dec 29, 2023
    Vitamin D-dependent rickets type II with alopecia1Dec 29, 2023
    Vitelliform macular dystrophy 11Dec 29, 2023
    Vitelliform macular dystrophy 42Dec 29, 2023
    Von Hippel-Lindau syndrome3Apr 26, 2021
    Waardenburg syndrome type 2A1Apr 26, 2021
    Weill-Marchesani syndrome 2, dominant1Dec 29, 2023
    Werner syndrome2Dec 29, 2023
    Wiedemann-Steiner syndrome1Dec 29, 2023
    Wilms tumor 11Apr 26, 2021
    Wilson disease3Dec 29, 2023
    X-linked Alport syndrome1Apr 26, 2021
    X-linked distal spinal muscular atrophy type 31Dec 29, 2023
    X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1Dec 29, 2023
    X-linked intellectual disability with marfanoid habitus2Sep 28, 2023
    X-linked intellectual disability, Cantagrel type1Sep 28, 2023
    Xeroderma pigmentosum, group F1Apr 26, 2021
    Yunis-Varon syndrome2Dec 29, 2023
    Zellweger spectrum disorders1Dec 29, 2023
    alpha Thalassemia1Apr 26, 2021
    not provided91Dec 29, 2023