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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: 2174

    Gene

    GeneSubmissionsLast Updated
    AARS11Aug 22, 2017
    AARS23Feb 9, 2022
    ABAT1Aug 22, 2017
    ABCA410Apr 20, 2020
    ABCB41Mar 13, 2018
    ABCC11Nov 17, 2017
    ABCC63Feb 9, 2022
    ABCC91Nov 17, 2017
    ABHD111Apr 20, 2020
    ABL11Apr 20, 2020
    ABL21Nov 24, 2021
    ACACA1Feb 9, 2022
    ACAD81Aug 22, 2017
    ACADM2Feb 9, 2022
    ACADS3Feb 9, 2022
    ACBD61Aug 22, 2017
    ACD2Feb 9, 2022
    ACKR31Mar 13, 2018
    ACO24Feb 9, 2022
    ACOT21Jan 30, 2019
    ACSM51Jan 30, 2019
    ACTA21Feb 9, 2022
    ACTG21Jan 30, 2019
    ACTN22Apr 20, 2020
    ACYP11Mar 13, 2018
    ADA24Feb 9, 2022
    ADAM171Feb 9, 2022
    ADAMTS22Feb 9, 2022
    ADAR4Feb 9, 2022
    ADAT21Feb 9, 2022
    ADGRB11Apr 20, 2020
    ADGRV11Feb 9, 2022
    ADNP1Apr 20, 2020
    ADPRS1Feb 9, 2022
    ADRA2B1Feb 9, 2022
    AGL2Feb 9, 2022
    AGRN2Feb 9, 2022
    AGTPBP11Aug 22, 2017
    AHDC12Jan 30, 2019
    AHNAK21Aug 22, 2017
    AICDA2Feb 9, 2022
    AIMP11Mar 13, 2018
    AIRE3Feb 9, 2022
    AKT31Apr 20, 2020
    ALDH18A11Aug 22, 2017
    ALDH1B11Apr 20, 2020
    ALDH3A22Feb 9, 2022
    ALDH5A13Feb 9, 2022
    ALDOA1Feb 9, 2022
    ALDOB1Mar 13, 2018
    ALG21Apr 20, 2020
    ALMS12Jan 30, 2019
    ALOXE32Apr 20, 2020
    ALPL2Jan 30, 2019
    AMPD12Feb 9, 2022
    ANK25Feb 9, 2022
    ANKRD11Apr 20, 2020
    ANKRD113Feb 9, 2022
    ANKRD261Apr 20, 2020
    ANLN1Jan 30, 2019
    ANO53Mar 13, 2018
    AOPEP2Feb 9, 2022
    AP1S21Feb 9, 2022
    AP2B11Apr 20, 2020
    AP3B13Feb 9, 2022
    AP4S12Apr 20, 2020
    AP5Z11Feb 9, 2022
    APC12Feb 9, 2022
    APOB1Mar 13, 2018
    AR1Apr 20, 2020
    ARFGEF21Aug 22, 2017
    ARG11Mar 13, 2018
    ARHGAP81Jan 30, 2019
    ARHGEF92Feb 9, 2022
    ARID1A2Feb 9, 2022
    ARID1B1Apr 20, 2020
    ARID4B1Feb 9, 2022
    ARPC41Feb 9, 2022
    ARPC4-TTLL31Feb 9, 2022
    ARSA2Apr 20, 2020
    ARSL1Feb 9, 2022
    ARX1Feb 9, 2022
    ASAH11Mar 13, 2018
    ASH1L1Apr 20, 2020
    ASPA1Feb 9, 2022
    ASS11Aug 22, 2017
    ASTN11Aug 22, 2017
    ASTN21Feb 9, 2022
    ASXL34Apr 20, 2020
    ATAD3A1Apr 20, 2020
    ATM14Feb 9, 2022
    ATP13A22Mar 13, 2018
    ATP2A11Feb 9, 2022
    ATP7B9Feb 9, 2022
    ATRX4Feb 9, 2022
    ATXN7L3-AS11Jan 30, 2019
    AVEN1Feb 9, 2022
    AVPR21Aug 22, 2017
    AXIN23Feb 9, 2022
    B4GALNT11Apr 20, 2020
    B4GALT73Jan 30, 2019
    BAP12Feb 9, 2022
    BARD13Feb 9, 2022
    BAZ1B1Aug 22, 2017
    BBS12Apr 20, 2020
    BCAP312Feb 9, 2022
    BCHE2Feb 9, 2022
    BCKDHB1Apr 20, 2020
    BCL11B1Jan 30, 2019
    BICD22Feb 9, 2022
    BIN11Mar 13, 2018
    BLNK1Feb 9, 2022
    BLOC1S1-RDH52Feb 9, 2022
    BMPR1A2Apr 20, 2020
    BMPR1B2Feb 9, 2022
    BOLA21Feb 9, 2022
    BPTF1Apr 20, 2020
    BRAF2Aug 22, 2017
    BRAT11Apr 20, 2020
    BRCA17Feb 9, 2022
    BRCA223Feb 9, 2022
    BRIP14Feb 9, 2022
    BRPF11Aug 22, 2017
    BRWD11Mar 13, 2018
    BRWD31Jan 30, 2019
    BTD3Apr 20, 2020
    C11orf658Feb 9, 2022
    C16orf741Mar 13, 2018
    C19orf121Aug 22, 2017
    CACHD13Apr 20, 2020
    CACNA1A3Apr 20, 2020
    CACNA1B2Feb 9, 2022
    CACNA1C2Jan 30, 2019
    CACNA1D2Feb 9, 2022
    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
    CARD111Feb 9, 2022
    CARD144Feb 9, 2022
    CARS21Mar 13, 2018
    CASK4Jan 30, 2019
    CASP102Feb 9, 2022
    CASP81Feb 9, 2022
    CASR1Jan 30, 2019
    CATSPER41Mar 13, 2018
    CBL2Apr 20, 2020
    CBS1Mar 13, 2018
    CCDC1901Mar 13, 2018
    CCDC221Mar 13, 2018
    CCSER11Apr 20, 2020
    CD191Mar 13, 2018
    CD79B1Feb 9, 2022
    CDH14Feb 9, 2022
    CDH234Feb 9, 2022
    CDK131Apr 20, 2020
    CDK5RAP22Mar 13, 2018
    CDK81Feb 9, 2022
    CDKL51Apr 20, 2020
    CDKN2A1Apr 20, 2020
    CDT11Aug 22, 2017
    CEBPA1Aug 22, 2017
    CEP1521Mar 13, 2018
    CEP2901Aug 22, 2017
    CFAP1571Mar 13, 2018
    CFTR9Nov 24, 2021
    CFTR-AS13Nov 24, 2021
    CGAS1Mar 13, 2018
    CHAT1Mar 13, 2018
    CHCHD101Mar 13, 2018
    CHD11Aug 22, 2017
    CHD25Feb 9, 2022
    CHD32Apr 20, 2020
    CHD51Feb 9, 2022
    CHD71Aug 22, 2017
    CHD83Feb 9, 2022
    CHEK28Feb 9, 2022
    CHIT11Mar 13, 2018
    CHKB1Feb 9, 2022
    CHKB-CPT1B1Feb 9, 2022
    CHMP2B1Feb 9, 2022
    CHN12Mar 13, 2018
    CHRNA41Jan 30, 2019
    CHRNB21Feb 9, 2022
    CHRNG1Aug 22, 2017
    CHST141Aug 22, 2017
    CIITA4Feb 9, 2022
    CIZ11Mar 13, 2018
    CLCN11Feb 9, 2022
    CLCN41Aug 22, 2017
    CLDN161Feb 9, 2022
    CLN51Apr 20, 2020
    CLN81Aug 22, 2017
    CLPP1Feb 9, 2022
    CLRN11Feb 9, 2022
    CLRN1-AS11Feb 9, 2022
    CLTC1Jan 30, 2019
    CNGA11Jan 30, 2019
    CNOT12Apr 20, 2020
    CNOT31Apr 20, 2020
    CNTNAP23Feb 9, 2022
    COASY1Feb 9, 2022
    COG61Mar 13, 2018
    COL11A12Feb 9, 2022
    COL11A26Apr 20, 2020
    COL12A14Feb 9, 2022
    COL15A11Feb 9, 2022
    COL17A11Feb 9, 2022
    COL1A14Feb 9, 2022
    COL1A26Apr 20, 2020
    COL2A12Feb 9, 2022
    COL3A110Apr 20, 2020
    COL4A12Mar 13, 2018
    COL4A41Feb 9, 2022
    COL4A51Jan 30, 2019
    COL5A112Feb 9, 2022
    COL5A25Feb 9, 2022
    COL6A12Mar 13, 2018
    COL6A24Apr 20, 2020
    COL6A33Feb 9, 2022
    COL7A13Apr 20, 2020
    COL9A21Aug 22, 2017
    COMT1Feb 9, 2022
    COPA2Feb 9, 2022
    COQ8A3Feb 9, 2022
    CORO1A1Feb 9, 2022
    CORO7-PAM161Mar 13, 2018
    CPLANE11Apr 20, 2020
    CPNE11Feb 9, 2022
    CPNE61Mar 13, 2018
    CPOX1Aug 22, 2017
    CPS16Mar 13, 2018
    CPT22Apr 20, 2020
    CR22Feb 9, 2022
    CRADD1Feb 9, 2022
    CRAT1Jan 30, 2019
    CREBBP1Aug 22, 2017
    CRELD11Feb 9, 2022
    CRPPA1Apr 20, 2020
    CRTAP1Apr 20, 2020
    CRTC21Feb 9, 2022
    CSF1R1Apr 20, 2020
    CSF2RA1Feb 9, 2022
    CSMD31Apr 20, 2020
    CSNK2A11Aug 22, 2017
    CSNK2B2Feb 9, 2022
    CTC12Feb 9, 2022
    CTCF1Apr 20, 2020
    CTLA41Feb 9, 2022
    CTNNA31Feb 9, 2022
    CTNNB11Apr 20, 2020
    CTR91Apr 20, 2020
    CTSC1Mar 13, 2018
    CUBN1Aug 22, 2017
    CYBA3Feb 9, 2022
    CYP11B21Apr 20, 2020
    CYP17A13Apr 20, 2020
    CYP17A1-AS11Mar 13, 2018
    CYP1B11Jul 17, 2020
    CYP21A21Feb 9, 2022
    CYP27A11Apr 20, 2020
    CYP3A51Mar 13, 2018
    DAG11Apr 20, 2020
    DARS23Mar 13, 2018
    DBNL1Aug 22, 2017
    DCHS12Feb 9, 2022
    DCLRE1C1Feb 9, 2022
    DCTN12Jan 30, 2019
    DDHD11Apr 20, 2020
    DDOST2Mar 13, 2018
    DDX112Mar 13, 2018
    DDX171Feb 9, 2022
    DDX3X3Feb 9, 2022
    DEPDC52Aug 22, 2017
    DES2Feb 9, 2022
    DGUOK1Jan 30, 2019
    DHCR73Feb 9, 2022
    DHTKD11Mar 13, 2018
    DHX291Mar 13, 2018
    DIABLO1Apr 20, 2020
    DICER11Feb 9, 2022
    DIP2C1Mar 13, 2018
    DLG32Apr 20, 2020
    DLGAP21Feb 9, 2022
    DMAC21Jan 30, 2019
    DMD7Feb 9, 2022
    DNAH11Jan 30, 2019
    DNAH141Aug 22, 2017
    DNAJB131Mar 13, 2018
    DNAJC191Feb 9, 2022
    DNM11Feb 9, 2022
    DNMT11Aug 22, 2017
    DNMT3A2Apr 20, 2020
    DNMT3B4Feb 9, 2022
    DOCK101Feb 9, 2022
    DOCK211Feb 9, 2022
    DOCK31Apr 20, 2020
    DOCK61Mar 13, 2018
    DOCK815Feb 9, 2022
    DOK71Feb 9, 2022
    DPAGT11Jan 30, 2019
    DPYD1Mar 13, 2018
    DPYD-AS11Mar 13, 2018
    DRP21Jan 30, 2019
    DSC21Apr 20, 2020
    DSG1-AS11Mar 13, 2018
    DSG22Feb 9, 2022
    DSG41Mar 13, 2018
    DSPP1Apr 20, 2020
    DST1Feb 9, 2022
    DTNA1Apr 20, 2020
    DVL11Apr 20, 2020
    DYNC1H13Feb 9, 2022
    DYNC2H12Apr 20, 2020
    DYRK1A1Aug 22, 2017
    DYSF6Feb 9, 2022
    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
    ELK11Feb 9, 2022
    ELN3Feb 9, 2022
    ELP24Feb 9, 2022
    ELP32Aug 22, 2017
    EMC12Jan 30, 2019
    EMC1-AS11Jan 30, 2019
    EMILIN11Feb 9, 2022
    ENO33Aug 22, 2017
    EP3001Aug 22, 2017
    EPB411Mar 13, 2018
    EPCAM1Apr 20, 2020
    EPG51Feb 9, 2022
    EPHB21Mar 13, 2018
    EPS82Jan 30, 2019
    ERBB41Aug 22, 2017
    ESPN1Mar 13, 2018
    ETHE11Aug 22, 2017
    EXOC41Jan 30, 2019
    EXOSC81Mar 13, 2018
    EXT21Apr 20, 2020
    EYA11Feb 9, 2022
    EZH21Apr 20, 2020
    F111Apr 20, 2020
    FAF11Feb 9, 2022
    FAM111A1Apr 20, 2020
    FAM20A1Feb 9, 2022
    FANCA1Feb 9, 2022
    FANCC2Feb 9, 2022
    FANCM2Mar 13, 2018
    FAS1Feb 9, 2022
    FASN2Jan 30, 2019
    FAT11Apr 20, 2020
    FAT41Feb 9, 2022
    FBLN51Apr 20, 2020
    FBN19Feb 9, 2022
    FBN25Feb 9, 2022
    FBP11Aug 22, 2017
    FBXO111Feb 9, 2022
    FBXO381Feb 9, 2022
    FDPS1Jan 30, 2019
    FERMT12Jan 30, 2019
    FGF121Apr 20, 2020
    FGF81Feb 9, 2022
    FGFR31Mar 13, 2018
    FH2Apr 20, 2020
    FHL11Apr 20, 2020
    FKRP1Jan 30, 2019
    FLCN3Feb 9, 2022
    FLG3Feb 9, 2022
    FLNA5Feb 9, 2022
    FLNB1Aug 22, 2017
    FLNC3Feb 9, 2022
    FLT31Mar 13, 2018
    FN11Mar 13, 2018
    FOXE31Jan 30, 2019
    FOXG11Apr 20, 2020
    FOXN14Feb 9, 2022
    FPR16Feb 9, 2022
    FSHR2Feb 9, 2022
    FTSJ11Feb 9, 2022
    FYB21Mar 13, 2018
    FZD41Aug 22, 2017
    G6PD1Mar 13, 2018
    GAA2Feb 9, 2022
    GABBR11Feb 9, 2022
    GABRA61Aug 22, 2017
    GABRB22Apr 20, 2020
    GABRB31Apr 20, 2020
    GABRG21Aug 22, 2017
    GADD45GIP11Jan 30, 2019
    GALC2Feb 9, 2022
    GALNT121Feb 9, 2022
    GALNT21Feb 9, 2022
    GARS11Aug 22, 2017
    GATA21Feb 9, 2022
    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
    GFI14Feb 9, 2022
    GFM23Feb 9, 2022
    GGCX1Feb 9, 2022
    GH-LCR2Feb 9, 2022
    GIPC31Aug 22, 2017
    GJB22Nov 24, 2021
    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
    GPHN1Feb 9, 2022
    GPR1791Feb 9, 2022
    GRHPR1Mar 13, 2018
    GRIA12Mar 13, 2018
    GRIA21Aug 22, 2017
    GRIA32Feb 9, 2022
    GRIN13Apr 20, 2020
    GRIN2A2Apr 20, 2020
    GRIN2B2Feb 9, 2022
    GRM11Feb 9, 2022
    GRM51Mar 13, 2018
    GRM61Aug 22, 2017
    GTPBP32Apr 20, 2020
    GYS12Apr 20, 2020
    HBA11Feb 9, 2022
    HBA22Feb 9, 2022
    HBB2Feb 9, 2022
    HCN21Feb 9, 2022
    HDAC41Feb 9, 2022
    HEATR41Jan 30, 2019
    HEATR91Aug 22, 2017
    HECW21Aug 22, 2017
    HEPACAM1Feb 9, 2022
    HERC23Feb 9, 2022
    HFE2Apr 20, 2020
    HFE-AS11Apr 20, 2020
    HIVEP21Aug 22, 2017
    HK31Jan 30, 2019
    HLA-A1Aug 22, 2017
    HMBS1Jan 30, 2019
    HNRNPC1Apr 20, 2020
    HNRNPU2Feb 9, 2022
    HPRT12Feb 9, 2022
    HRAS2Aug 22, 2017
    HSD17B102Feb 9, 2022
    HSD17B41Aug 22, 2017
    HSF41Mar 13, 2018
    HSPB11Aug 22, 2017
    HSPB83Feb 9, 2022
    HSPG22Feb 9, 2022
    HTR2C1Feb 9, 2022
    HUWE14Feb 9, 2022
    IAH11Feb 9, 2022
    IARS21Jan 30, 2019
    IDS1Feb 9, 2022
    IDUA1Apr 20, 2020
    IFIH12Feb 9, 2022
    IFNGR12Feb 9, 2022
    IFT741Jan 30, 2019
    IGF1R2Apr 20, 2020
    IGH3Apr 20, 2020
    IL10RA2Feb 9, 2022
    IL17F1Feb 9, 2022
    IL17RA4Feb 9, 2022
    IL17RC4Feb 9, 2022
    IL1RAPL12Feb 9, 2022
    IL211Feb 9, 2022
    IL2RA2Feb 9, 2022
    IL36RN1Aug 22, 2017
    IL7R4Feb 9, 2022
    IMMP2L1Feb 9, 2022
    INHBA1Mar 13, 2018
    INSL61Mar 13, 2018
    IQCE1Jan 30, 2019
    IQSEC21Mar 13, 2018
    IRF75Feb 9, 2022
    ISG152Feb 9, 2022
    ITGA72Apr 20, 2020
    ITGB23Feb 9, 2022
    ITPR11Mar 13, 2018
    JAGN11Feb 9, 2022
    JAK21Mar 13, 2018
    JAK32Feb 9, 2022
    JMJD1C1Feb 9, 2022
    KANK11Mar 13, 2018
    KANSL11Apr 20, 2020
    KAT6B1Aug 22, 2017
    KCNA11Mar 13, 2018
    KCNA22Feb 9, 2022
    KCND31Feb 9, 2022
    KCNE11Aug 22, 2017
    KCNH24Apr 20, 2020
    KCNJ101Jan 30, 2019
    KCNJ111Aug 22, 2017
    KCNJ21Feb 9, 2022
    KCNJ61Mar 13, 2018
    KCNQ12Feb 9, 2022
    KCNQ22Apr 20, 2020
    KCNQ31Apr 20, 2020
    KCNQ41Feb 9, 2022
    KCNV21Aug 22, 2017
    KDM1A1Jan 30, 2019
    KDM3B1Apr 20, 2020
    KDM5B3Feb 9, 2022
    KDM5C2Apr 20, 2020
    KIAA05862Feb 9, 2022
    KIAA12101Aug 22, 2017
    KIDINS2201Aug 22, 2017
    KIF1A3Apr 20, 2020
    KIF21B1Jan 30, 2019
    KIF221Feb 9, 2022
    KIF5C1Apr 20, 2020
    KIRREL31Mar 13, 2018
    KLF81Aug 22, 2017
    KLF9-DT2Feb 9, 2022
    KMT2B1Apr 20, 2020
    KMT2D3Apr 20, 2020
    KMT5B1Feb 9, 2022
    KRAS1Aug 22, 2017
    KRBOX41Feb 9, 2022
    LAMA12Jan 30, 2019
    LAMA29Apr 20, 2020
    LAMA41Apr 20, 2020
    LAMTOR21Feb 9, 2022
    LARGE11Feb 9, 2022
    LDB31Apr 20, 2020
    LDLR3Feb 9, 2022
    LHX41Aug 22, 2017
    LHX4-AS11Aug 22, 2017
    LIG42Feb 9, 2022
    LINC013891Jan 30, 2019
    LIPT11Mar 13, 2018
    LMBRD12Jan 30, 2019
    LMNA4Feb 9, 2022
    LMX1B3Feb 9, 2022
    LOC1001307981Aug 22, 2017
    LOC1009968421Jan 30, 2019
    LOC1014482023Feb 9, 2022
    LOC1019270551Aug 22, 2017
    LOC1019271571Jan 30, 2019
    LOC1053715663Feb 9, 2022
    LOC1060990622Feb 9, 2022
    LOC1066279812Jan 30, 2019
    LOC1066943161Aug 22, 2017
    LOC1067808001Feb 9, 2022
    LOC1067998341Apr 20, 2020
    LOC1068046121Apr 20, 2020
    LOC1071335102Feb 9, 2022
    LOC1073033401Feb 9, 2022
    LOC1076488511Feb 9, 2022
    LOC1101214651Jan 30, 2019
    LOC1125298951Aug 22, 2017
    LOC1126947561Feb 9, 2022
    LOC1148034781Feb 9, 2022
    LOC1148278511Feb 9, 2022
    LOC1216278761Feb 9, 2022
    LOC1238640652Aug 22, 2017
    LOX3Feb 9, 2022
    LOXHD12Jan 30, 2019
    LPIN21Mar 13, 2018
    LRATD21Aug 22, 2017
    LRBA2Feb 9, 2022
    LRIT31Jan 30, 2019
    LRP12Jan 30, 2019
    LRP23Jan 30, 2019
    LRP41Apr 20, 2020
    LRP4-AS11Apr 20, 2020
    LRP51Feb 9, 2022
    LRP61Jan 30, 2019
    LRPPRC2Feb 9, 2022
    LRRC37A23Mar 13, 2018
    LRRC562Aug 22, 2017
    LRRK12Jan 30, 2019
    LRSAM12Aug 22, 2017
    LTBP21Aug 22, 2017
    LTBP33Feb 9, 2022
    LTBP46Feb 9, 2022
    LYST6Feb 9, 2022
    LZTR12Feb 9, 2022
    MAGEC11Aug 22, 2017
    MAGEL21Apr 20, 2020
    MAN1B11Feb 9, 2022
    MANBA1Mar 13, 2018
    MAP1A1Apr 20, 2020
    MAP2K23Aug 22, 2017
    MAP3K141Feb 9, 2022
    MAP3K14-AS11Feb 9, 2022
    MAP3K71Jan 30, 2019
    MAPK8IP31Feb 9, 2022
    MAPT1Feb 9, 2022
    MARS12Mar 13, 2018
    MARS21Apr 20, 2020
    MASP21Aug 22, 2017
    MATR31Aug 22, 2017
    MAVS1Mar 13, 2018
    MBD53Feb 9, 2022
    MBL21Aug 22, 2017
    MC1R1Feb 9, 2022
    MCCC11Aug 22, 2017
    MCCC21Aug 22, 2017
    MDN12Aug 22, 2017
    MDN1-AS11Aug 22, 2017
    MEA11Feb 9, 2022
    MECP23Feb 9, 2022
    MECR2Apr 20, 2020
    MED13L3Feb 9, 2022
    MED232Mar 13, 2018
    MEF2C5Feb 9, 2022
    MEFV7Feb 9, 2022
    MEIS21Aug 22, 2017
    MEN12Apr 20, 2020
    MFAP51Apr 20, 2020
    MFN11Jan 30, 2019
    MFN21Feb 9, 2022
    MGME11Mar 13, 2018
    MHRT1Apr 20, 2020
    MITD11Mar 13, 2018
    MITF2Feb 9, 2022
    MLH15Feb 9, 2022
    MLYCD1Feb 9, 2022
    MMAA1Feb 9, 2022
    MMAB1Feb 9, 2022
    MMACHC1Jan 30, 2019
    MME1Feb 9, 2022
    MORC21Jan 30, 2019
    MPDU11Jan 30, 2019
    MPI1Mar 13, 2018
    MPO2Aug 22, 2017
    MPST1Jan 30, 2019
    MPV173Feb 9, 2022
    MPV17L21Mar 13, 2018
    MPZ2Jan 30, 2019
    MRE111Apr 20, 2020
    MRPL32Feb 9, 2022
    MRPL442Mar 13, 2018
    MRPS121Mar 13, 2018
    MRPS301Mar 13, 2018
    MSH212Feb 9, 2022
    MSH32Feb 9, 2022
    MSH66Feb 9, 2022
    MSL21Aug 22, 2017
    MSL32Apr 20, 2020
    MSRB32Mar 13, 2018
    MT-ATP612Feb 9, 2022
    MT-ATP81Apr 20, 2020
    MT-CO12Feb 9, 2022
    MT-CO21Nov 24, 2021
    MT-CO32Nov 24, 2021
    MT-CYB3Apr 20, 2020
    MT-ND12Apr 20, 2020
    MT-ND22Mar 13, 2018
    MT-ND42Jan 30, 2019
    MT-ND4L1Feb 9, 2022
    MT-ND53Feb 9, 2022
    MT-ND62Apr 20, 2020
    MT-RNR12Aug 22, 2017
    MT-RNR21Aug 22, 2017
    MT-TA1Nov 24, 2021
    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
    MTRR1Feb 9, 2022
    MTTP1Feb 9, 2022
    MUTYH2Feb 9, 2022
    MVK3Feb 9, 2022
    MXRA51Jan 30, 2019
    MYBPC38Feb 9, 2022
    MYH113Apr 20, 2020
    MYH141Apr 20, 2020
    MYH21Mar 13, 2018
    MYH62Feb 9, 2022
    MYH76Feb 9, 2022
    MYH93Jan 30, 2019
    MYHAS1Mar 13, 2018
    MYL101Jan 30, 2019
    MYLK3Feb 9, 2022
    MYO15A4Feb 9, 2022
    MYO3B1Aug 22, 2017
    MYO7A3Apr 20, 2020
    MYOM11Aug 22, 2017
    NACC11Feb 9, 2022
    NADK21Feb 9, 2022
    NAGS4Aug 22, 2017
    NALCN2Feb 9, 2022
    NARS22Feb 9, 2022
    NBN4Feb 9, 2022
    NCF21Feb 9, 2022
    NCF41Feb 9, 2022
    NCOA41Jan 30, 2019
    NDP1Feb 9, 2022
    NDP-AS11Feb 9, 2022
    NDUFA11Aug 22, 2017
    NDUFAF51Feb 9, 2022
    NDUFAF71Jan 30, 2019
    NDUFB11Apr 20, 2020
    NDUFS11Apr 20, 2020
    NDUFS41Aug 22, 2017
    NDUFV11Mar 13, 2018
    NEB8Feb 9, 2022
    NECTIN41Aug 22, 2017
    NEFH1Aug 22, 2017
    NEXMIF1Jan 30, 2019
    NF18Feb 9, 2022
    NFATC11Apr 20, 2020
    NFIA1Jan 30, 2019
    NFKBIA1Feb 9, 2022
    NGF1Feb 9, 2022
    NGF-AS11Feb 9, 2022
    NIN2Feb 9, 2022
    NIPBL1Apr 20, 2020
    NKAIN21Jan 30, 2019
    NLGN4X1Feb 9, 2022
    NLRC42Feb 9, 2022
    NLRP125Feb 9, 2022
    NLRP33Feb 9, 2022
    NMI1Mar 13, 2018
    NOD22Feb 9, 2022
    NODAL1Mar 13, 2018
    NOTCH13Jan 30, 2019
    NOTCH31Apr 20, 2020
    NOXA11Aug 22, 2017
    NPC11Aug 22, 2017
    NPC21Mar 13, 2018
    NPR21Apr 20, 2020
    NPRL21Feb 9, 2022
    NR3C11Feb 9, 2022
    NR4A21Feb 9, 2022
    NRAS1Mar 13, 2018
    NRL1Aug 22, 2017
    NRN1L1Mar 13, 2018
    NRXN14Feb 9, 2022
    NRXN21Jan 30, 2019
    NSF1Mar 13, 2018
    NSUN21Apr 20, 2020
    NT5E2Feb 9, 2022
    NTRK11Aug 22, 2017
    NUBPL1Mar 13, 2018
    NUP1881Feb 9, 2022
    OBI1-AS12Apr 20, 2020
    OCA22Mar 13, 2018
    OPA13Feb 9, 2022
    OPA32Feb 9, 2022
    OR6K21Aug 22, 2017
    ORAI12Feb 9, 2022
    ORC11Aug 22, 2017
    OTOG2Feb 9, 2022
    OTOGL4Apr 21, 2020
    OXA1L1Feb 9, 2022
    P2RX71Nov 17, 2017
    P3H11Apr 20, 2020
    PACS11Jan 30, 2019
    PAFAH1B11Mar 13, 2018
    PAH2Mar 13, 2018
    PAK11Feb 9, 2022
    PALB25Feb 9, 2022
    PALS21Aug 22, 2017
    PAM161Mar 13, 2018
    PAPPA22Feb 9, 2022
    PAX21Mar 13, 2018
    PAX62Mar 13, 2018
    PBX11Feb 9, 2022
    PC2Feb 9, 2022
    PCCB1Mar 13, 2018
    PCK21Aug 22, 2017
    PCNT1Mar 13, 2018
    PDE6B2Jan 30, 2019
    PDHX1Nov 17, 2017
    PDLIM31Aug 22, 2017
    PDX11Feb 9, 2022
    PEX12Feb 9, 2022
    PEX161Jan 30, 2019
    PEX61Mar 13, 2018
    PFKM3Mar 13, 2018
    PGAM21Aug 22, 2017
    PGK11Feb 9, 2022
    PGM11Aug 22, 2017
    PHEX1Aug 22, 2017
    PHF61Feb 9, 2022
    PHF81Aug 22, 2017
    PHIP2Jan 30, 2019
    PHKA21Apr 20, 2020
    PIGO2Feb 9, 2022
    PIGT3Feb 9, 2022
    PIK3R13Feb 9, 2022
    PIK3R21Jan 30, 2019
    PINK11Aug 22, 2017
    PITRM11Jan 30, 2019
    PKD12Jan 30, 2019
    PKD21Jan 30, 2019
    PKHD15Jan 30, 2019
    PKP21Apr 20, 2020
    PLCG24Feb 9, 2022
    PLEC4Feb 9, 2022
    PLEKHG51Jan 30, 2019
    PLOD11Feb 9, 2022
    PLOD31Apr 20, 2020
    PLXNA32Feb 9, 2022
    PLXNB31Mar 13, 2018
    PMP221Jan 30, 2019
    PMS210Feb 9, 2022
    PNKP1Apr 20, 2020
    PNPO1Feb 9, 2022
    PNPT12Feb 9, 2022
    POGLUT11Apr 20, 2020
    POGZ1Feb 9, 2022
    POLD14Feb 9, 2022
    POLE7Feb 9, 2022
    POLG9Feb 9, 2022
    POLR1C2Feb 9, 2022
    POLR2F1Apr 20, 2020
    POLR3B1Apr 20, 2020
    POMGNT13Feb 9, 2022
    POMT22Jan 30, 2019
    POU1F11Mar 13, 2018
    POU4F12Apr 20, 2020
    PPA21Jan 30, 2019
    PPM1D1Aug 22, 2017
    PPOX1Aug 22, 2017
    PPP2R1A1Jan 30, 2019
    PPP2R2B1Apr 20, 2020
    PPP2R5D1Feb 9, 2022
    PPT11Jan 30, 2019
    PRB21Aug 22, 2017
    PRDM51Feb 9, 2022
    PREX21Apr 20, 2020
    PRF12Feb 9, 2022
    PRICKLE11Mar 13, 2018
    PRKAR1A2Feb 9, 2022
    PRKCD3Feb 9, 2022
    PRKDC1Feb 9, 2022
    PRKG13Feb 9, 2022
    PRKN1Feb 9, 2022
    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
    PRX1Feb 9, 2022
    PSMB81Feb 9, 2022
    PSMD121Apr 20, 2020
    PTCH22Feb 9, 2022
    PTEN2Feb 9, 2022
    PTRH11Mar 13, 2018
    PTRH21Jan 30, 2019
    PUF602Feb 9, 2022
    PUM11Apr 20, 2020
    PYGM3Aug 22, 2017
    PYY4Aug 22, 2017
    QRFPR1Aug 22, 2017
    RAB11FIP51Aug 22, 2017
    RAB39B1Feb 9, 2022
    RAD501Feb 9, 2022
    RAD51C3Feb 9, 2022
    RAD51D3Feb 9, 2022
    RAD51L3-RFFL3Feb 9, 2022
    RAF11Apr 20, 2020
    RAG11Feb 9, 2022
    RAI11Apr 20, 2020
    RAPSN1Feb 9, 2022
    RB12Feb 9, 2022
    RBFOX11Apr 20, 2020
    RBM121Feb 9, 2022
    RDH111Feb 9, 2022
    RDH52Feb 9, 2022
    RECQL42Feb 9, 2022
    REEP21Feb 9, 2022
    RELN1Mar 13, 2018
    RET3Feb 9, 2022
    RGPD41Mar 13, 2018
    RHAG1Apr 20, 2020
    RHBDF21Apr 20, 2020
    RHO1Aug 22, 2017
    RHOBTB21Apr 20, 2020
    RHOT11Jan 30, 2019
    RIF13Feb 9, 2022
    RINT11Feb 9, 2022
    RMND11Aug 22, 2017
    ROCK21Mar 13, 2018
    ROR21Aug 22, 2017
    RORA1Feb 9, 2022
    RORA-AS11Feb 9, 2022
    RP1L11Jan 30, 2019
    RPE652Apr 20, 2020
    RPL261Feb 9, 2022
    RPL36A-HNRNPH23Mar 13, 2018
    RPS231Aug 22, 2017
    RRM2B2Feb 9, 2022
    RSPH4A1Aug 22, 2017
    RTEL18Feb 9, 2022
    RTEL1-TNFRSF6B8Feb 9, 2022
    RUNX11Feb 9, 2022
    RUSC1-AS11Jan 30, 2019
    RYR111Feb 9, 2022
    RYR24Feb 9, 2022
    RYR37Feb 9, 2022
    SACS2Mar 13, 2018
    SAMD91Feb 9, 2022
    SARS22Mar 13, 2018
    SATB21Mar 13, 2018
    SCAF12Feb 9, 2022
    SCAPER2Apr 20, 2020
    SCARB21Feb 9, 2022
    SCN10A1Aug 22, 2017
    SCN11A2Apr 20, 2020
    SCN1A2Nov 18, 2020
    SCN1A-AS12Feb 9, 2022
    SCN1B2Mar 13, 2018
    SCN2A7Feb 9, 2022
    SCN2B1Apr 20, 2020
    SCN3A2Feb 9, 2022
    SCN4A1Aug 22, 2017
    SCN5A3Jan 30, 2019
    SCN8A3Nov 24, 2021
    SCN9A2Feb 9, 2022
    SCO12Aug 22, 2017
    SCP21Mar 13, 2018
    SDHA1Aug 22, 2017
    SDHB1Mar 13, 2018
    SDHD1Aug 22, 2017
    SDK11Nov 17, 2017
    SDSL1Mar 13, 2018
    SEPTIN91Feb 9, 2022
    SERAC11Feb 9, 2022
    SERPINA11Nov 24, 2021
    SETBP12Aug 22, 2017
    SETD1B1Feb 9, 2022
    SGSH2Feb 9, 2022
    SH3BP23Feb 9, 2022
    SHANK23Feb 9, 2022
    SHANK32Jan 30, 2019
    SIM11Apr 20, 2020
    SIM1-AS11Apr 20, 2020
    SIRT51Apr 20, 2020
    SIX51Jan 30, 2019
    SLC12A31Feb 9, 2022
    SLC12A61Aug 22, 2017
    SLC19A21Aug 22, 2017
    SLC22A51Mar 13, 2018
    SLC25A121Mar 13, 2018
    SLC25A231Apr 20, 2020
    SLC25A241Apr 20, 2020
    SLC26A43Feb 9, 2022
    SLC27A41Jan 30, 2019
    SLC29A35Feb 9, 2022
    SLC2A13Apr 20, 2020
    SLC2A101Apr 20, 2020
    SLC37A41Feb 9, 2022
    SLC4A12Mar 13, 2018
    SLC6A13Jan 30, 2019
    SLC6A21Aug 22, 2017
    SLC6A81Mar 13, 2018
    SLC7A75Feb 9, 2022
    SLX41Feb 9, 2022
    SMAD32Jan 30, 2019
    SMARCA21Apr 20, 2020
    SMARCA41Feb 9, 2022
    SMARCAL11Feb 9, 2022
    SMCHD11Aug 22, 2017
    SMS1Aug 22, 2017
    SMYD31Feb 9, 2022
    SNAP251Apr 20, 2020
    SNCA1Feb 9, 2022
    SNED11Aug 22, 2017
    SNHG141Aug 22, 2017
    SNX142Feb 9, 2022
    SOD11Apr 20, 2020
    SON2Feb 9, 2022
    SOS21Mar 13, 2018
    SOX101Apr 20, 2020
    SOX21Apr 20, 2020
    SOX2-OT1Apr 20, 2020
    SP1102Feb 9, 2022
    SP1402Feb 9, 2022
    SPAST5Jan 30, 2019
    SPATA221Feb 9, 2022
    SPATA52Feb 9, 2022
    SPG112Apr 20, 2020
    SPG73Mar 13, 2018
    SPI11Mar 13, 2018
    SPINK11Aug 22, 2017
    SPINK518Feb 9, 2022
    SPTAN12Nov 24, 2021
    SPTB1Nov 24, 2021
    SPTBN22Mar 13, 2018
    SPTLC21Aug 22, 2017
    SQSTM12Feb 9, 2022
    SRFBP13Feb 9, 2022
    SRPK31Aug 22, 2017
    SSH31Jan 30, 2019
    STAG11Mar 13, 2018
    STAT12Jan 30, 2019
    STAT32Feb 9, 2022
    STIM11Feb 9, 2022
    STING12Feb 9, 2022
    STK113Nov 24, 2021
    STRA61Aug 22, 2017
    STRC3Apr 20, 2020
    STT3B1Mar 13, 2018
    STX111Aug 22, 2017
    STX1B1Mar 13, 2018
    STXBP14Aug 22, 2017
    STXBP23Feb 9, 2022
    SUCLA21Feb 9, 2022
    SUCLG21Apr 20, 2020
    SUGCT1Feb 9, 2022
    SURF11Mar 13, 2018
    SYNE12Apr 20, 2020
    SYNE21Feb 9, 2022
    SYNGAP11Feb 9, 2022
    SYNGAP1-AS11Feb 9, 2022
    SYNJ11Feb 9, 2022
    SYT121Aug 22, 2017
    SYT41Mar 13, 2018
    SZT24Feb 9, 2022
    TAF11Feb 9, 2022
    TALDO11Jan 30, 2019
    TANC21Feb 9, 2022
    TANGO21Aug 22, 2017
    TAOK11Aug 22, 2017
    TAP24Feb 9, 2022
    TAPBP1Feb 9, 2022
    TBC1D241Mar 13, 2018
    TBCEL-TECTA2Feb 9, 2022
    TBCK2Feb 9, 2022
    TBK11Feb 9, 2022
    TBL1XR13Feb 9, 2022
    TBL1XR1-AS12Apr 20, 2020
    TBR11Aug 22, 2017
    TBX11Feb 9, 2022
    TCAP1Jan 30, 2019
    TCF122Jan 30, 2019
    TCIRG11Aug 22, 2017
    TCN24Feb 9, 2022
    TCOF11Mar 13, 2018
    TCP102Aug 22, 2017
    TCTN11Feb 9, 2022
    TECPR23Apr 20, 2020
    TECTA2Feb 9, 2022
    TENM11Apr 20, 2020
    TERT3Feb 9, 2022
    TFG1Jan 30, 2019
    TG1Jan 30, 2019
    TGFB22Feb 9, 2022
    TGFBR22Aug 22, 2017
    TH1Mar 13, 2018
    THG1L1Aug 22, 2017
    TICAM11Feb 9, 2022
    TIGD11Aug 22, 2017
    TIMM441Apr 20, 2020
    TINF21Feb 9, 2022
    TJP21Mar 13, 2018
    TKT1Mar 13, 2018
    TLK22Apr 20, 2020
    TLR31Feb 9, 2022
    TMC11Feb 9, 2022
    TMC62Feb 9, 2022
    TMC82Feb 9, 2022
    TMLHE2Feb 9, 2022
    TMPRSS31Feb 9, 2022
    TNFRSF13B3Feb 9, 2022
    TNFRSF1A4Feb 9, 2022
    TNRC6B1Aug 22, 2017
    TNXB7Feb 9, 2022
    TOPORS1Jan 30, 2019
    TP532Feb 9, 2022
    TPO1Jul 17, 2020
    TPP13Jul 17, 2020
    TPP22Feb 9, 2022
    TRAF3IP23Feb 9, 2022
    TRAF3IP2-AS13Feb 9, 2022
    TRAF71Apr 20, 2020
    TRAPPC91Mar 13, 2018
    TRIM41Aug 22, 2017
    TRIO1Feb 9, 2022
    TRIOBP1Aug 22, 2017
    TRMU1Aug 22, 2017
    TRNT13Feb 9, 2022
    TRPM32Feb 9, 2022
    TRPS11Feb 9, 2022
    TRPV42Feb 9, 2022
    TRRAP3Feb 9, 2022
    TSC11Jan 30, 2019
    TSC22Aug 22, 2017
    TSEN541Feb 9, 2022
    TSPAN13Feb 9, 2022
    TSPEAR2Jan 30, 2019
    TSPEAR-AS11Jan 30, 2019
    TSTD31Aug 22, 2017
    TTC21B1Aug 22, 2017
    TTC7A1Feb 9, 2022
    TTN28Nov 24, 2021
    TTN-AS114Nov 24, 2021
    TTR1Apr 20, 2020
    TUBA1A2Apr 20, 2020
    TUBB2Feb 9, 2022
    TUBB2A1Apr 20, 2020
    TUBB2B1Feb 9, 2022
    TUBB4A1Apr 20, 2020
    TXNRD21Feb 9, 2022
    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
    UMOD1Feb 9, 2022
    UNC13D4Feb 9, 2022
    UNC802Aug 22, 2017
    UNC93B11Feb 9, 2022
    UPF3B1Nov 24, 2021
    UQCRB1Feb 9, 2022
    USH2A6Feb 9, 2022
    USH2A-AS21Feb 9, 2022
    USP11Aug 22, 2017
    USP451Aug 22, 2017
    USP501Aug 22, 2017
    USP71Aug 22, 2017
    USP81Aug 22, 2017
    USP9X2Feb 9, 2022
    VARS21Mar 13, 2018
    VCL1Mar 13, 2018
    VHL1Feb 9, 2022
    VPS13B6Feb 9, 2022
    VRK11Mar 13, 2018
    WDFY41Feb 9, 2022
    WDR371Aug 22, 2017
    WDR452Jan 30, 2019
    WDR813Feb 9, 2022
    WFS14Feb 9, 2022
    WIPF11Feb 9, 2022
    WRN1Apr 20, 2020
    WWOX1Jan 30, 2019
    XIAP1Feb 9, 2022
    XPC1Feb 9, 2022
    YWHAZ1Nov 24, 2021
    ZAP703Feb 9, 2022
    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
    ZNF4541Aug 22, 2017
    ZNF4694Feb 9, 2022
    ZNF5952Aug 22, 2017
    ZNF7111Feb 9, 2022
    ZNF8141Aug 22, 2017
    ZNF8441Jan 30, 2019
    ZSCAN251Mar 13, 2018
    ZSWIM62Jan 30, 2019

    Condition

    NameSubmissionsLast Updated
    10p15.3 microdeletion syndrome1Feb 9, 2022
    16p13.11 microdeletion syndrome1Feb 9, 2022
    2-aminoadipic 2-oxoadipic aciduria1Mar 13, 2018
    3-Methylglutaconic aciduria type 33Feb 9, 2022
    3-methylcrotonyl-CoA carboxylase 1 deficiency1Aug 22, 2017
    3-methylcrotonyl-CoA carboxylase 2 deficiency1Aug 22, 2017
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Feb 9, 2022
    8q24.3 microdeletion syndrome2Feb 9, 2022
    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
    ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Apr 20, 2020
    ADPRHL2-Related Disorder1Feb 9, 2022
    AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Jan 30, 2019
    AKT3-Related Disorder1Apr 20, 2020
    ALDH18A1-related de Barsy syndrome1Aug 22, 2017
    ALG2-CDG1Apr 20, 2020
    AP4S1-related disorder1Apr 20, 2020
    APC-Associated Polyposis Disorders3Feb 9, 2022
    APC-related attenuated familial adenomatous polyposis2Feb 9, 2022
    APS41-Related disorder1Apr 20, 2020
    ARX-related epileptic encephalopathy1Feb 9, 2022
    ASH1L-Related Disorder1Apr 20, 2020
    ATRX-Related Disorder2Feb 9, 2022
    AXIN2-related attenuated familial adenomatous polyposis1Feb 9, 2022
    Abnormality of the pancreas1Apr 20, 2020
    Achondroplasia1Mar 13, 2018
    Acquired polycythemia vera1Mar 13, 2018
    Acrodysostosis 1 with or without hormone resistance1Feb 9, 2022
    Acromelic frontonasal dysostosis2Jan 30, 2019
    Acromesomelic dysplasia 1, Maroteaux type1Apr 20, 2020
    Actin accumulation myopathy1Feb 9, 2022
    Action myoclonus-renal failure syndrome1Feb 9, 2022
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1Aug 22, 2017
    Acute intermittent porphyria2Aug 22, 2017
    Acute myeloid leukemia2Mar 13, 2018
    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 thalassemia-X-linked intellectual disability syndrome1Feb 9, 2022
    Alpha-1-antitrypsin deficiency1Nov 24, 2021
    Alpha-thalassemia and related diseases1Feb 9, 2022
    Alport syndrome1Feb 9, 2022
    Alstrom syndrome2Jan 30, 2019
    Amyloidogenic transthyretin amyloidosis1Apr 20, 2020
    Amyotrophic lateral sclerosis type 11Apr 20, 2020
    Amyotrophic neuralgia1Feb 9, 2022
    Andersen Tawil syndrome1Feb 9, 2022
    Aneurysm of thoracic aorta1Aug 22, 2017
    Aneurysm-osteoarthritis syndrome1Jan 30, 2019
    Angelman syndrome2Apr 20, 2020
    Anterior segment dysgenesis 11Jan 30, 2019
    Aortic aneurysm, familial thoracic 101Apr 20, 2020
    Aortic aneurysm, familial thoracic 41Jan 30, 2019
    Aortic aneurysm, familial thoracic 61Feb 9, 2022
    Aortic aneurysm, familial thoracic 72Feb 9, 2022
    Aortic aneurysm, familial thoracic 81Jan 30, 2019
    Aortic aneurysm, familial thoracic, TGFB2 related1Feb 9, 2022
    Aortic valve disease 12Jan 30, 2019
    Arginase deficiency1Mar 13, 2018
    Arrhythmogenic right ventricular dysplasia 101Feb 9, 2022
    Arterial tortuosity syndrome1Apr 20, 2020
    Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2Jan 30, 2019
    Ataxia-telangiectasia syndrome2Jan 30, 2019
    Ataxia-telangiectasia-like disorder 11Apr 20, 2020
    Atrial fibrillation, familial, 11Feb 9, 2022
    Atrial fibrillation, familial, 121Nov 17, 2017
    Autism spectrum disorder2Feb 9, 2022
    Autism, susceptibility to, 181Mar 13, 2018
    Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1Jan 30, 2019
    Autosomal dominant Kenny-Caffey syndrome1Apr 20, 2020
    Autosomal dominant Parkinson disease 11Feb 9, 2022
    Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Feb 9, 2022
    Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2Feb 9, 2022
    Autosomal dominant congenital benign spinal muscular atrophy1Feb 9, 2022
    Autosomal dominant distal renal tubular acidosis1Mar 13, 2018
    Autosomal dominant familial acute myeloid leukemia1Aug 22, 2017
    Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Mar 13, 2018
    Autosomal dominant medullary cystic kidney disease with hyperuricemia1Feb 9, 2022
    Autosomal dominant mitochondrial myopathy with exercise intolerance1Mar 13, 2018
    Autosomal dominant nocturnal frontal lobe epilepsy1Feb 9, 2022
    Autosomal dominant nocturnal frontal lobe epilepsy 11Jan 30, 2019
    Autosomal dominant nonsyndromic hearing loss 111Jan 30, 2019
    Autosomal dominant nonsyndromic hearing loss 121Feb 9, 2022
    Autosomal dominant nonsyndromic hearing loss 132Jan 30, 2019
    Autosomal dominant nonsyndromic hearing loss 171Aug 22, 2017
    Autosomal dominant nonsyndromic hearing loss 2A1Feb 9, 2022
    Autosomal dominant nonsyndromic hearing loss 361Feb 9, 2022
    Autosomal dominant nonsyndromic hearing loss 3A1Apr 20, 2020
    Autosomal dominant nonsyndromic hearing loss 4A1Apr 20, 2020
    Autosomal dominant nonsyndromic hearing loss 65Feb 9, 2022
    Autosomal dominant optic atrophy classic form2Feb 9, 2022
    Autosomal dominant osteopetrosis 11Feb 9, 2022
    Autosomal dominant retinitis pigmentosa1Aug 22, 2017
    Autosomal recessive Alport syndrome1Feb 9, 2022
    Autosomal recessive DOPA responsive dystonia1Mar 13, 2018
    Autosomal recessive ataxia due to ubiquinone deficiency2Feb 9, 2022
    Autosomal recessive ataxia, Beauce type2Apr 20, 2020
    Autosomal recessive complex spastic paraplegia type 9B1Aug 22, 2017
    Autosomal recessive congenital ichthyosis 32Apr 20, 2020
    Autosomal recessive juvenile Parkinson disease 21Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2A2Apr 20, 2020
    Autosomal recessive limb-girdle muscular dystrophy type 2B2Nov 24, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2G1Jan 30, 2019
    Autosomal recessive limb-girdle muscular dystrophy type 2J7Nov 24, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2L3Mar 13, 2018
    Autosomal recessive limb-girdle muscular dystrophy type 2N2Jan 30, 2019
    Autosomal recessive limb-girdle muscular dystrophy type 2O1Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2Q4Feb 9, 2022
    Autosomal recessive limb-girdle muscular dystrophy type 2R1Feb 9, 2022
    Autosomal recessive lower motor neuron disease with childhood onset1Jan 30, 2019
    Autosomal recessive multiple pterygium syndrome1Aug 22, 2017
    Autosomal recessive nonsyndromic hearing loss 122Jan 30, 2019
    Autosomal recessive nonsyndromic hearing loss 162Apr 20, 2020
    Autosomal recessive nonsyndromic hearing loss 18B1Feb 9, 2022
    Autosomal recessive nonsyndromic hearing loss 21Jan 30, 2019
    Autosomal recessive nonsyndromic hearing loss 211Feb 9, 2022
    Autosomal recessive nonsyndromic hearing loss 34Feb 9, 2022
    Autosomal recessive nonsyndromic hearing loss 41Feb 9, 2022
    Autosomal recessive nonsyndromic hearing loss 532Jan 30, 2019
    Autosomal recessive nonsyndromic hearing loss 71Feb 9, 2022
    Autosomal recessive nonsyndromic hearing loss 701Jan 30, 2019
    Autosomal recessive nonsyndromic hearing loss 772Jan 30, 2019
    Autosomal recessive nonsyndromic hearing loss 84B3Apr 21, 2020
    Autosomal recessive nonsyndromic hearing loss 981Jan 30, 2019
    Autosomal recessive osteopetrosis 11Aug 22, 2017
    Autosomal recessive polycystic kidney disease5Jan 30, 2019
    Autosomal recessive spinocerebellar ataxia 121Jan 30, 2019
    Autosomal recessive spinocerebellar ataxia 131Feb 9, 2022
    Autosomal recessive spinocerebellar ataxia 142Mar 13, 2018
    Autosomal recessive spinocerebellar ataxia 202Feb 9, 2022
    Autosomal recessive spinocerebellar ataxia 72Jul 17, 2020
    Autosomal recessive spondylometaphyseal dysplasia, Megarbane type1Mar 13, 2018
    BAP1-related tumor predisposition syndrome2Feb 9, 2022
    BCAP31-Related Disorder1Feb 9, 2022
    BRCA2-Related Disorders2Feb 9, 2022
    BRWD3-Related Disorder1Jan 30, 2019
    Baller-Gerold syndrome1Feb 9, 2022
    Bardet-Biedl syndrome1Aug 22, 2017
    Bardet-Biedl syndrome 11Apr 20, 2020
    Bardet-Biedl syndrome 221Jan 30, 2019
    Becker muscular dystrophy4Apr 20, 2020
    Benign neonatal seizures1Apr 20, 2020
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy3Feb 9, 2022
    Bernard Soulier syndrome2Mar 13, 2018
    Bernard-Soulier syndrome, type A2, autosomal dominant1Mar 13, 2018
    Beta-D-mannosidosis1Mar 13, 2018
    Bethlem myopathy 16Feb 9, 2022
    Bethlem myopathy 23Feb 9, 2022
    Bifunctional peroxisomal enzyme deficiency1Aug 22, 2017
    Biotinidase deficiency3Apr 20, 2020
    Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1Feb 9, 2022
    Borjeson-Forssman-Lehmann syndrome1Feb 9, 2022
    Brachydactyly2Feb 9, 2022
    Brachydactyly syndrome type E1Feb 9, 2022
    Brachydactyly type A21Aug 22, 2017
    Brachydactyly type B11Aug 22, 2017
    Brachyolmia-amelogenesis imperfecta syndrome3Feb 9, 2022
    Brain small vessel disease 1 with or without ocular anomalies1Mar 13, 2018
    Branchiootorenal syndrome 11Feb 9, 2022
    Breast cancer, susceptibility to1Jan 30, 2019
    Breast-ovarian cancer, familial, susceptibility to, 12Feb 9, 2022
    Breast-ovarian cancer, familial, susceptibility to, 23Apr 20, 2020
    Breast-ovarian cancer, familial, susceptibility to, 32Apr 20, 2020
    Breast-ovarian cancer, familial, susceptibility to, 42Feb 9, 2022
    Brittle cornea syndrome 14Feb 9, 2022
    Brittle cornea syndrome 21Feb 9, 2022
    Brody myopathy1Feb 9, 2022
    Bronze diabetes2Apr 20, 2020
    Brugada syndrome3Aug 22, 2017
    CACNA1A-Related Disorder2Apr 20, 2020
    CACNA1C-Related Disorder1Jan 30, 2019
    CACNA1D-related disorder1Feb 9, 2022
    CACNA1G-related disorders1Aug 22, 2017
    CACNA1H-related disorder1Nov 17, 2017
    CASK-Related Disorder2Jan 30, 2019
    CBL-related disorder1Apr 20, 2020
    CEP290-related ciliopathies1Aug 22, 2017
    CFTR-related disorders1Nov 24, 2021
    CHARGE association1Aug 22, 2017
    CHD2-Related Disorder2Feb 9, 2022
    CHD3-Related Disorder2Apr 20, 2020
    CHD8-Related Disorder1Feb 9, 2022
    CHD8-Related Disorders1Mar 13, 2018
    CLCN4-related disorder1Aug 22, 2017
    CLTC-Related Disorder1Jan 30, 2019
    CNOT1-Related Disorder2Apr 20, 2020
    COG6-CGD1Mar 13, 2018
    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
    CR2-Related Disorders1Feb 9, 2022
    CSNK2A1- Related Disorders1Aug 22, 2017
    CSNK2B-Related Disorder1Feb 9, 2022
    CTCF-Related Disorder1Apr 20, 2020
    Camptodactyly-tall stature-scoliosis-hearing loss syndrome1Mar 13, 2018
    Cardiac arrhythmia1Aug 22, 2017
    Cardiac arrhythmia, ankyrin-B-related4Feb 9, 2022
    Cardiac valvular dysplasia, X-linked1Aug 22, 2017
    Cardiomyopathy2Dec 15, 2017
    Carney complex2Feb 9, 2022
    Carney-Stratakis syndrome1Mar 13, 2018
    Carnitine palmitoyl transferase II deficiency, neonatal form1Apr 20, 2020
    Carnitine palmitoyltransferase II deficiency1Apr 20, 2020
    Cataract 5 multiple types1Mar 13, 2018
    Catecholaminergic polymorphic ventricular tachycardia 14Feb 9, 2022
    Central core myopathy3Apr 20, 2020
    Centronuclear myopathy1Aug 22, 2017
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22Feb 9, 2022
    Channelopathy-associated congenital insensitivity to pain, autosomal recessive2Feb 9, 2022
    Charcot-Marie-Tooth disease axonal type 2C2Feb 9, 2022
    Charcot-Marie-Tooth disease axonal type 2L2Apr 20, 2020
    Charcot-Marie-Tooth disease axonal type 2N1Aug 22, 2017
    Charcot-Marie-Tooth disease axonal type 2O2Feb 9, 2022
    Charcot-Marie-Tooth disease axonal type 2P2Aug 22, 2017
    Charcot-Marie-Tooth disease axonal type 2Q1Mar 13, 2018
    Charcot-Marie-Tooth disease axonal type 2T1Feb 9, 2022
    Charcot-Marie-Tooth disease axonal type 2Z1Jan 30, 2019
    Charcot-Marie-Tooth disease recessive intermediate C1Jan 30, 2019
    Charcot-Marie-Tooth disease type 1B2Jan 30, 2019
    Charcot-Marie-Tooth disease type 1E1Jan 30, 2019
    Charcot-Marie-Tooth disease type 21Feb 9, 2022
    Charcot-Marie-Tooth disease type 2A21Feb 9, 2022
    Charcot-Marie-Tooth disease type 2B13Feb 9, 2022
    Charcot-Marie-Tooth disease type 2D1Aug 22, 2017
    Charcot-Marie-Tooth disease type 2J1Jan 30, 2019
    Charcot-Marie-Tooth disease type 4F1Feb 9, 2022
    Charcot-Marie-Tooth disease type 4K1Mar 13, 2018
    Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1Feb 9, 2022
    Charcot-Marie-Tooth disease, axonal, type 2EE1Feb 9, 2022
    Charcot-Marie-Tooth disease, type IA1Jan 30, 2019
    Charlevoix-Saguenay spastic ataxia2Mar 13, 2018
    Childhood onset GLUT1 deficiency syndrome 22Mar 13, 2018
    Cholestanol storage disease1Apr 20, 2020
    Chromosome 15q13.3 microdeletion syndrome1Aug 22, 2017
    Chromosome 16p11.2 duplication syndrome2Feb 9, 2022
    Chromosome 17p13.3 duplication syndrome1Feb 9, 2022
    Chromosome 1q21.1 deletion syndrome1Jan 30, 2019
    Chromosome 2q23.1 deletion syndrome2Jan 30, 2019
    Chromosome Xp21 deletion syndrome1Jan 30, 2019
    Chromosome Xq28 duplication syndrome1Feb 9, 2022
    Chronic infantile neurological, cutaneous and articular syndrome1Aug 22, 2017
    Citrullinemia type I1Aug 22, 2017
    Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Feb 9, 2022
    Cobalamin C disease1Jan 30, 2019
    Coffin-Siris syndrome3Feb 9, 2022
    Coffin-Siris syndrome 11Apr 20, 2020
    Cohen syndrome4Mar 13, 2018
    Collagen 6-related myopathy2Mar 13, 2018
    Colon cancer, susceptibility to1Jan 30, 2019
    Colorectal cancer, hereditary nonpolyposis, type 21Mar 13, 2018
    Colorectal cancer, hereditary nonpolyposis, type 41Feb 9, 2022
    Colorectal cancer, hereditary nonpolyposis, type 52Feb 9, 2022
    Colorectal cancer, hereditary nonpolyposis, type 81Apr 20, 2020
    Colorectal cancer, susceptibility to, 101Feb 9, 2022
    Colorectal cancer, susceptibility to, 121Nov 24, 2021
    Combined immunodeficiency due to DOCK8 deficiency3Apr 20, 2020
    Combined oxidative phosphorylation defect type 111Aug 22, 2017
    Combined oxidative phosphorylation defect type 131Jan 30, 2019
    Combined oxidative phosphorylation defect type 151Aug 22, 2017
    Combined oxidative phosphorylation defect type 201Mar 13, 2018
    Combined oxidative phosphorylation defect type 231Apr 20, 2020
    Combined oxidative phosphorylation defect type 242Feb 9, 2022
    Combined oxidative phosphorylation defect type 271Mar 13, 2018
    Combined oxidative phosphorylation defect type 82Feb 9, 2022
    Combined oxidative phosphorylation defect type 91Aug 22, 2017
    Combined oxidative phosphorylation deficiency 393Feb 9, 2022
    Complex cortical dysplasia with other brain malformations 11Feb 9, 2022
    Complex cortical dysplasia with other brain malformations 21Apr 20, 2020
    Complex cortical dysplasia with other brain malformations 62Feb 9, 2022
    Complex cortical dysplasia with other brain malformations 71Feb 9, 2022
    Cone-rod dystrophy1Jan 30, 2019
    Congenital aneurysm of ascending aorta5Feb 9, 2022
    Congenital aniridia1Mar 13, 2018
    Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Feb 9, 2022
    Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Mar 13, 2018
    Congenital contractural arachnodactyly4Feb 9, 2022
    Congenital contractures of the limbs and face, hypotonia, and developmental delay2Feb 9, 2022
    Congenital disorder of glycosylation type Ir2Mar 13, 2018
    Congenital disorder of glycosylation, type iit1Feb 9, 2022
    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 type2Feb 9, 2022
    Congenital multicore myopathy with external ophthalmoplegia3Apr 20, 2020
    Congenital muscular dystrophy due to LMNA mutation3Feb 9, 2022
    Congenital muscular dystrophy due to integrin alpha-7 deficiency2Apr 20, 2020
    Congenital myasthenic syndrome 101Feb 9, 2022
    Congenital myasthenic syndrome 111Feb 9, 2022
    Congenital myasthenic syndrome 131Jan 30, 2019
    Congenital myasthenic syndrome 82Feb 9, 2022
    Congenital myopathy with fiber type disproportion2Apr 20, 2020
    Congenital myotonia, autosomal dominant form1Feb 9, 2022
    Congenital myotonia, autosomal recessive form1Feb 9, 2022
    Congenital primary aphakia1Jan 30, 2019
    Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1Nov 17, 2017
    Congenital stationary night blindness1Aug 22, 2017
    Congenital stationary night blindness 1E1Feb 9, 2022
    Congenital stationary night blindness 1F1Jan 30, 2019
    Cornelia de Lange syndrome 11Apr 20, 2020
    Coronary artery disorder1Jan 30, 2019
    Cortical dysplasia-focal epilepsy syndrome3Feb 9, 2022
    Corticosterone methyloxidase type 2 deficiency1Apr 20, 2020
    Cowden syndrome1Feb 9, 2022
    Cowden syndrome 11Mar 13, 2018
    Creatine transporter deficiency1Mar 13, 2018
    Crouzon syndrome-acanthosis nigricans syndrome1Mar 13, 2018
    Cutis Laxa Syndrome1Aug 22, 2017
    Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies5Feb 9, 2022
    Cutis laxa, autosomal dominant 13Feb 9, 2022
    Cutis laxa, autosomal dominant 21Apr 20, 2020
    Cutis laxa, autosomal dominant 31Aug 22, 2017
    Cutis laxa, autosomal recessive, type 1A1Apr 20, 2020
    Cystic fibrosis6Nov 24, 2021
    Cytochrome-c oxidase deficiency disease3Aug 22, 2017
    DCHS1-related disorder2Feb 9, 2022
    DCTN1-Related Disorder2Jan 30, 2019
    DDX3X-Related Disorder2Apr 20, 2020
    DEPDC5-Related Disorder2Aug 22, 2017
    DIABLO-Related Hearing Loss1Apr 20, 2020
    DICER1 syndrome1Feb 9, 2022
    DLG3-Related Disorder1Apr 20, 2020
    DMD-Related Disorder1Apr 20, 2020
    DNMT1-Related Disorder1Aug 22, 2017
    DNMT3A-Related Disorder1Apr 20, 2020
    DOCK2 deficiency1Feb 9, 2022
    DPAGT1-CDG1Jan 30, 2019
    DSPP-Related Disorder1Apr 20, 2020
    DYNC1H1-related disorders1Aug 22, 2017
    DYNC2H1-Related Disorder2Apr 20, 2020
    DYSF- Related Disorder1Aug 22, 2017
    DYSF-Related Disorders1Feb 9, 2022
    Deafness2Aug 22, 2017
    Deficiency of butyryl-CoA dehydrogenase3Feb 9, 2022
    Deficiency of butyrylcholinesterase3Feb 9, 2022
    Deficiency of iodide peroxidase1Jul 17, 2020
    Deficiency of isobutyryl-CoA dehydrogenase1Aug 22, 2017
    Deficiency of malonyl-CoA decarboxylase1Feb 9, 2022
    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 942Apr 20, 2020
    Developmental and epileptic encephalopathy, 14Feb 9, 2022
    Developmental and epileptic encephalopathy, 112Apr 20, 2020
    Developmental and epileptic encephalopathy, 185Feb 9, 2022
    Developmental and epileptic encephalopathy, 21Apr 20, 2020
    Developmental and epileptic encephalopathy, 321Apr 20, 2020
    Developmental and epileptic encephalopathy, 331Jan 30, 2019
    Developmental and epileptic encephalopathy, 391Mar 13, 2018
    Developmental and epileptic encephalopathy, 431Apr 20, 2020
    Developmental and epileptic encephalopathy, 531Feb 9, 2022
    Developmental and epileptic encephalopathy, 541Apr 20, 2020
    Developmental and epileptic encephalopathy, 621Feb 9, 2022
    Developmental and epileptic encephalopathy, 641Apr 20, 2020
    Developmental delay1Apr 20, 2020
    Developmental delay with autism spectrum disorder and gait instability2Feb 9, 2022
    Developmental delay with or without dysmorphic facies and autism1Feb 9, 2022
    Dextro-looped transposition of the great arteries 11Aug 22, 2017
    Diabetes insipidus, nephrogenic, X-linked1Aug 22, 2017
    Diamond-Blackfan anemia 111Feb 9, 2022
    Dihydropyrimidine dehydrogenase deficiency1Mar 13, 2018
    Dilated cardiomyopathy 1A4Feb 9, 2022
    Dilated cardiomyopathy 1EE1Feb 9, 2022
    Dilated cardiomyopathy 1G9Nov 24, 2021
    Dilated cardiomyopathy 1GG1Aug 22, 2017
    Dilated cardiomyopathy 1I1Feb 9, 2022
    Dilated cardiomyopathy 1O1Nov 17, 2017
    Dilated cardiomyopathy 1W1Mar 13, 2018
    Dilated cardiomyopathy 3B1Aug 22, 2017
    Distal hereditary motor neuropathy type 21Feb 9, 2022
    Distal myopathy with anterior tibial onset2Nov 24, 2021
    Distal myopathy with posterior leg and anterior hand involvement2Feb 9, 2022
    Dominant beta-thalassemia1Mar 13, 2018
    Donnai-Barrow syndrome3Jan 30, 2019
    Duane syndrome type 11Mar 13, 2018
    Duchenne muscular dystrophy4Apr 20, 2020
    Dyskeratosis congenita, autosomal dominant 31Feb 9, 2022
    Dystonia 271Feb 9, 2022
    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
    EAST syndrome1Jan 30, 2019
    ELP2-Related Disorders2Aug 22, 2017
    EMC1-Related Disorder2Jan 30, 2019
    EMILIN-1-related connective tissue disease1Feb 9, 2022
    EZH2-related disorder1Apr 20, 2020
    Early onset epileptic encephalopathy3Apr 20, 2020
    Early-onset Parkinson disease 201Feb 9, 2022
    Early-onset myopathy with fatal cardiomyopathy7Nov 24, 2021
    Ectodermal dysplasia-syndactyly syndrome 11Aug 22, 2017
    Ectopia lentis1Jan 30, 2019
    Ehlers-Danlos syndrome1Aug 22, 2017
    Ehlers-Danlos syndrome due to tenascin-X deficiency6Feb 9, 2022
    Ehlers-Danlos syndrome progeroid type3Jan 30, 2019
    Ehlers-Danlos syndrome, arthrochalasis type4Feb 9, 2022
    Ehlers-Danlos syndrome, cardiac valvular type3Feb 9, 2022
    Ehlers-Danlos syndrome, classic type17Feb 9, 2022
    Ehlers-Danlos syndrome, classic type, 21Apr 20, 2020
    Ehlers-Danlos syndrome, dermatosparaxis type2Feb 9, 2022
    Ehlers-Danlos syndrome, kyphoscoliotic type 11Feb 9, 2022
    Ehlers-Danlos syndrome, musculocontractural type1Aug 22, 2017
    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
    Elliptocytosis 31Nov 24, 2021
    Emery-Dreifuss muscular dystrophy 3, autosomal recessive2Feb 9, 2022
    Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Feb 9, 2022
    Encephalopathy due to GLUT1 deficiency1Aug 22, 2017
    Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria1Jan 30, 2019
    Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81Feb 9, 2022
    Endometrial carcinoma1Mar 13, 2018
    Epidermolysis bullosa dystrophica2Apr 20, 2020
    Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1Feb 9, 2022
    Epidermolysis bullosa simplex 5B, with muscular dystrophy3Feb 9, 2022
    Epidermolysis bullosa simplex 5C, with pyloric atresia3Feb 9, 2022
    Epidermolysis bullosa simplex, Ogna type3Feb 9, 2022
    Epilepsy1Nov 17, 2017
    Epilepsy, childhood absence, susceptibility to, 62Jan 30, 2019
    Epilepsy, familial adult myoclonic, 21Feb 9, 2022
    Epilepsy, familial focal, with variable foci 21Feb 9, 2022
    Epilepsy, focal, SCN3A related1Feb 9, 2022
    Epilepsy, idiopathic generalized, susceptibility to, 121Aug 22, 2017
    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
    Epsilon-trimethyllysine hydroxylase deficiency1Jan 30, 2019
    Essential hypertension1Mar 13, 2018
    Ethylmalonic encephalopathy1Aug 22, 2017
    Exostoses, multiple, type 21Apr 20, 2020
    Exudative vitreoretinopathy 11Feb 9, 2022
    Exudative vitreoretinopathy 41Feb 9, 2022
    FBN1-Related Disorders1Jan 30, 2019
    FBN1-related disorder1Feb 9, 2022
    FG syndrome 21Aug 22, 2017
    FKRP-Related Disorder1Jan 30, 2019
    FLG-Related Disorder1Feb 9, 2022
    FLNA related disorders1Feb 9, 2022
    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 16Feb 9, 2022
    Familial adenomatous polyposis 41Mar 13, 2018
    Familial amyloid nephropathy with urticaria AND deafness1Aug 22, 2017
    Familial cancer of breast4Feb 9, 2022
    Familial cardiomyopathy1Aug 22, 2017
    Familial cold autoinflammatory syndrome 11Aug 22, 2017
    Familial cold autoinflammatory syndrome 21Apr 20, 2020
    Familial colorectal cancer3Feb 9, 2022
    Familial episodic pain syndrome with predominantly lower limb involvement1Apr 20, 2020
    Familial exudative vitreoretinopathy1Aug 22, 2017
    Familial hemophagocytic lymphohistiocytosis1Aug 22, 2017
    Familial hypercholesterolemia1Feb 9, 2022
    Familial hypobetalipoproteinemia 11Mar 13, 2018
    Familial hypokalemia-hypomagnesemia1Feb 9, 2022
    Familial infantile myasthenia1Mar 13, 2018
    Familial medullary thyroid carcinoma1Aug 22, 2017
    Familial ovarian cancer1Nov 24, 2021
    Familial partial lipodystrophy, Dunnigan type1Feb 9, 2022
    Familial temporal lobe epilepsy 71Mar 13, 2018
    Familial thoracic aortic aneurysm and aortic dissection5Feb 9, 2022
    Fanconi anemia1Aug 22, 2017
    Fanconi anemia complementation group A2Feb 9, 2022
    Fanconi anemia complementation group D12Nov 24, 2021
    Fanconi anemia complementation group N1Apr 20, 2020
    Fanconi anemia complementation group P1Feb 9, 2022
    Fanconi anemia, complementation group M1Mar 13, 2018
    Farber lipogranulomatosis1Mar 13, 2018
    Febrile seizure (within the age range of 3 months to 6 years)1Feb 9, 2022
    Fetal akinesia deformation sequence 21Feb 9, 2022
    Fetal akinesia deformation sequence 31Feb 9, 2022
    Fetal hemoglobin quantitative trait locus 11Mar 13, 2018
    Fibrochondrogenesis 12Feb 9, 2022
    Fibrochondrogenesis 23Apr 20, 2020
    Focal segmental glomerulosclerosis 81Jan 30, 2019
    Fragile site 11b1Apr 20, 2020
    Fried syndrome1Feb 9, 2022
    Frontometaphyseal dysplasia 11Aug 22, 2017
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 21Mar 13, 2018
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Feb 9, 2022
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 71Feb 9, 2022
    Fructose-biphosphatase deficiency1Aug 22, 2017
    Fundus albipunctatus, autosomal recessive1Jan 30, 2019
    G6PD deficiency1Mar 13, 2018
    GABRA6-Related Disorder1Aug 22, 2017
    GABRG2-Related Disorder1Aug 22, 2017
    GATAD2B-Related Disorder2Jan 30, 2019
    GLUT1 deficiency syndrome1Apr 20, 2020
    GNB1-Related Disorder1Apr 20, 2020
    GNE myopathy1Apr 20, 2020
    GRIA3-Related Disorder1Aug 22, 2017
    GRIN1-Related Disorder2Jan 30, 2019
    GRIN2B-Related Disorder1Jan 30, 2019
    Galactosylceramide beta-galactosidase deficiency1Feb 9, 2022
    Gamma-aminobutyric acid transaminase deficiency1Aug 22, 2017
    Gastric adenocarcinoma and proximal polyposis of the stomach2Feb 9, 2022
    Gastrointestinal stromal tumor1Mar 13, 2018
    Gaucher disease1Aug 22, 2017
    Gaucher disease perinatal lethal1Jan 30, 2019
    Gaucher disease type I1Jan 30, 2019
    Gaucher disease type II1Jan 30, 2019
    Gaucher disease type III1Jan 30, 2019
    Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1Jan 30, 2019
    Geleophysic dysplasia 33Feb 9, 2022
    Generalized epilepsy1Feb 9, 2022
    Generalized juvenile polyposis/juvenile polyposis coli1Apr 20, 2020
    Generalized pustular psoriasis1Aug 22, 2017
    Gillespie syndrome1Mar 13, 2018
    Glaucoma 3A1Jul 17, 2020
    Glomerulopathy with fibronectin deposits 21Mar 13, 2018
    Glomuvenous malformation1Mar 13, 2018
    Glucocorticoid resistance1Feb 9, 2022
    Glutaryl-CoA oxidase deficiency1Feb 9, 2022
    Glycogen phosphorylase kinase deficiency1Apr 20, 2020
    Glycogen storage disease due to muscle and heart glycogen synthase deficiency2Apr 20, 2020
    Glycogen storage disease due to muscle beta-enolase deficiency1Aug 22, 2017
    Glycogen storage disease type III2Feb 9, 2022
    Glycogen storage disease type X1Aug 22, 2017
    Glycogen storage disease, type II2Feb 9, 2022
    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
    Gnb5-related intellectual disability-cardiac arrhythmia syndrome2Mar 13, 2018
    Gorlin syndrome1Feb 9, 2022
    Growth delay due to insulin-like growth factor I resistance1Apr 20, 2020
    Guillain-Barre syndrome, familial1Jan 30, 2019
    HBB-Related Disorders1Feb 9, 2022
    HIVEP2-Related Disorder1Aug 22, 2017
    HNSHA due to aldolase A deficiency1Feb 9, 2022
    HPRT1-Related Disorder2Feb 9, 2022
    HSD10 mitochondrial disease1Feb 9, 2022
    HSD17B10-Related Disorder1Aug 22, 2017
    HSPB1-Related Disorder1Aug 22, 2017
    HUWE1-Related Disorder2Feb 9, 2022
    Harel-Yoon syndrome1Apr 20, 2020
    Hb SS disease1Mar 13, 2018
    Hearing loss3Aug 22, 2017
    Hearing loss, autosomal dominant 371Feb 9, 2022
    Hearing loss, autosomal recessive 1061Jan 30, 2019
    Hearing loss, autosomal recessive 941Feb 9, 2022
    Heimler syndrome 11Feb 9, 2022
    Hennekam lymphangiectasia-lymphedema syndrome 11Feb 9, 2022
    Hennekam lymphangiectasia-lymphedema syndrome 21Feb 9, 2022
    Hepatic veno-occlusive disease-immunodeficiency syndrome1Mar 13, 2018
    Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13Feb 9, 2022
    Hereditary breast ovarian cancer syndrome6Feb 9, 2022
    Hereditary cancer4Aug 22, 2017
    Hereditary cancer-predisposing syndrome1Apr 20, 2020
    Hereditary diffuse gastric adenocarcinoma3Feb 9, 2022
    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 palsies2Feb 9, 2022
    Hereditary motor and sensory neuropathy with optic atrophy1Feb 9, 2022
    Hereditary motor and sensory neuropathy, Okinawa type1Jan 30, 2019
    Hereditary nonpolyposis colon cancer2Nov 24, 2021
    Hereditary nonpolyposis colorectal neoplasms1Aug 22, 2017
    Hereditary pancreatitis1Aug 22, 2017
    Hereditary pheochromocytoma-paraganglioma1Aug 22, 2017
    Hereditary sensory and autonomic neuropathy type 61Feb 9, 2022
    Hereditary sensory and autonomic neuropathy type 72Apr 20, 2020
    Hereditary spastic paraplegia 112Apr 20, 2020
    Hereditary spastic paraplegia 302Apr 20, 2020
    Hereditary spastic paraplegia 44Mar 13, 2018
    Hereditary spastic paraplegia 431Aug 22, 2017
    Hereditary spastic paraplegia 441Aug 22, 2017
    Hereditary spastic paraplegia 461Aug 22, 2017
    Hereditary spastic paraplegia 481Feb 9, 2022
    Hereditary spastic paraplegia 493Apr 20, 2020
    Hereditary spastic paraplegia 571Jan 30, 2019
    Hereditary spastic paraplegia 5A1Feb 9, 2022
    Hereditary spastic paraplegia 73Mar 13, 2018
    Hereditary spastic paraplegia 9A1Aug 22, 2017
    Hereditary spherocytosis1Nov 24, 2021
    Hereditary spherocytosis type 41Mar 13, 2018
    Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11Feb 9, 2022
    Herpes simplex encephalitis, susceptibility to, 11Feb 9, 2022
    Heterotopia, periventricular, X-linked dominant3Jan 30, 2019
    Hirschsprung disease, susceptibility to, 12Feb 9, 2022
    Hirschsprung disease, susceptibility to, 21Mar 13, 2018
    History of neurodevelopmental disorder1Feb 9, 2022
    Hoyeraal-Hreidarsson syndrome1Feb 9, 2022
    Hutchinson-Gilford syndrome3Feb 9, 2022
    Hyper-IgE recurrent infection syndrome 11Feb 9, 2022
    Hyperammonemia, type III1Aug 22, 2017
    Hypercholesterolemia, autosomal dominant, type B1Mar 13, 2018
    Hypercholesterolemia, familial, 12Mar 13, 2018
    Hyperphosphatasia with intellectual disability syndrome 21Feb 9, 2022
    Hypertrophic cardiomyopathy4Jan 30, 2019
    Hypertrophic cardiomyopathy 12Apr 20, 2020
    Hypertrophic cardiomyopathy 141Feb 9, 2022
    Hypertrophic cardiomyopathy 151Mar 13, 2018
    Hypertrophic cardiomyopathy 251Jan 30, 2019
    Hypertrophic cardiomyopathy 43Feb 9, 2022
    Hypertrophic cardiomyopathy 98Nov 24, 2021
    Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome2Mar 13, 2018
    Hypochondroplasia1Mar 13, 2018
    Hypogonadism with anosmia1Apr 20, 2020
    Hypogonadotropic hypogonadism 6 with or without anosmia1Feb 9, 2022
    Hypomyelinating leukodystrophy 31Mar 13, 2018
    Hypomyelinating leukodystrophy 61Apr 20, 2020
    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 12Feb 9, 2022
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Feb 9, 2022
    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 vulgaris2Feb 9, 2022
    Idiopathic hemiconvulsion-hemiplegia syndrome1Jan 30, 2019
    Imerslund-Grasbeck syndrome1Aug 22, 2017
    Immunodeficiency 31B1Jan 30, 2019
    Immunodeficiency 361Mar 13, 2018
    Immunodeficiency, common variable, 21Mar 13, 2018
    Infantile convulsions and choreoathetosis1Apr 20, 2020
    Infantile cortical hyperostosis2Feb 9, 2022
    Infantile encephalopathy2Aug 22, 2017
    Infantile epileptic dyskinetic encephalopathy1Feb 9, 2022
    Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1Mar 13, 2018
    Intellectual developmental disorder and retinitis pigmentosa; IDDRP2Apr 20, 2020
    Intellectual developmental disorder with autistic features and language delay, with or without seizures1Feb 9, 2022
    Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Feb 9, 2022
    Intellectual developmental disorder with hypotonia and behavioral abnormalities1Feb 9, 2022
    Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Feb 9, 2022
    Intellectual developmental disorder with seizures and language delay1Feb 9, 2022
    Intellectual disability6Apr 20, 2020
    Intellectual disability, X-linked 11Mar 13, 2018
    Intellectual disability, X-linked 1021Feb 9, 2022
    Intellectual disability, X-linked 91Feb 9, 2022
    Intellectual disability, X-linked 971Feb 9, 2022
    Intellectual disability, X-linked 991Apr 20, 2020
    Intellectual disability, X-linked syndromic, Turner type2Feb 9, 2022
    Intellectual disability, X-linked, with or without seizures, arx-related1Feb 9, 2022
    Intellectual disability, autosomal dominant 11Nov 17, 2017
    Intellectual disability, autosomal dominant 132Feb 9, 2022
    Intellectual disability, autosomal dominant 141Feb 9, 2022
    Intellectual disability, autosomal dominant 203Jan 30, 2019
    Intellectual disability, autosomal dominant 41Mar 13, 2018
    Intellectual disability, autosomal dominant 51Feb 9, 2022
    Intellectual disability, autosomal dominant 571Apr 20, 2020
    Intellectual disability, autosomal dominant 61Feb 9, 2022
    Intellectual disability, autosomal dominant 81Apr 20, 2020
    Intellectual disability, autosomal dominant 92Apr 20, 2020
    Intellectual disability, autosomal recessive 11Aug 22, 2017
    Intellectual disability, autosomal recessive 131Mar 13, 2018
    Intellectual disability, autosomal recessive 181Aug 22, 2017
    Intellectual disability, autosomal recessive 341Feb 9, 2022
    Intellectual disability, autosomal recessive 51Apr 20, 2020
    Intellectual disability, autosomal recessive 582Feb 9, 2022
    Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1Jan 30, 2019
    Irido-corneo-trabecular dysgenesis1Jul 17, 2020
    Isolated focal cortical dysplasia type II1Apr 20, 2020
    Joubert syndrome 131Feb 9, 2022
    Joubert syndrome 232Feb 9, 2022
    Junctional epidermolysis bullosa1Feb 9, 2022
    Juvenile myoclonic epilepsy2Mar 13, 2018
    Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Feb 9, 2022
    KANK1- Related Disorder1Mar 13, 2018
    KBG syndrome3Feb 9, 2022
    KCN2A-Related Disorder1Feb 9, 2022
    KCND3-Related Disorder1Feb 9, 2022
    KCNQ1-Related Disorders1Feb 9, 2022
    KCNQ2-Related Disorders1Apr 20, 2020
    KDM5B-Related Disorder2Feb 9, 2022
    KMT5B-Related Disorder1Feb 9, 2022
    Kabuki syndrome 13Apr 20, 2020
    Keppen-Lubinsky syndrome1Mar 13, 2018
    Kufor-Rakeb syndrome2Mar 13, 2018
    LAMA2-related muscular dystrophy3Apr 20, 2020
    LOX-Related Disorder1Jan 30, 2019
    LOX-related disorders1Feb 9, 2022
    LRP4-Related Disorder1Apr 20, 2020
    LRP5-related primary osteoporosis1Feb 9, 2022
    LTBP2-related Disorder1Aug 22, 2017
    LZTR1-Related Disorder1Feb 9, 2022
    Landau-Kleffner syndrome1Apr 20, 2020
    Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia2Mar 13, 2018
    Leber optic atrophy4Feb 9, 2022
    Left ventricular noncompaction1Apr 20, 2020
    Left ventricular noncompaction 101Feb 9, 2022
    Leigh syndrome4Mar 13, 2018
    Lennox-Gastaut syndrome1Apr 20, 2020
    Lethal Kniest-like syndrome2Feb 9, 2022
    Lethal multiple pterygium syndrome1Aug 22, 2017
    Leukemia, acute myeloid with eosinophilia1Nov 24, 2021
    Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome3Mar 13, 2018
    Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome3Apr 20, 2020
    Levy-Hollister syndrome1Mar 13, 2018
    Lewy body dementia2Feb 9, 2022
    Lissencephaly1Apr 20, 2020
    Lissencephaly due to LIS1 mutation1Mar 13, 2018
    Lissencephaly due to TUBA1A mutation1Mar 13, 2018
    Loeys-Dietz syndrome2Aug 22, 2017
    Long QT syndrome3Aug 22, 2017
    Long QT syndrome 11Aug 22, 2017
    Long QT syndrome 22Apr 20, 2020
    Lower motor neuron syndrome with late-adult onset1Mar 13, 2018
    Lymphoma1Feb 9, 2022
    Lynch syndrome9Feb 9, 2022
    MAN1B1-CDG1Feb 9, 2022
    MAPK8IP3-related disorders1Feb 9, 2022
    MAPT-Related Spectrum Disorders1Feb 9, 2022
    MARS-Related Disorder2Mar 13, 2018
    MASS syndrome1Jan 30, 2019
    MATR3-Related Disorder1Aug 22, 2017
    MBD5 associated neurodevelopmental disorder1Feb 9, 2022
    MECP2-Related Disorder1Apr 20, 2020
    MED13L-Related Disorder2Feb 9, 2022
    MEF2C-Related Disorder2Feb 9, 2022
    MEIS2-related disorder1Aug 22, 2017
    MME-related autosomal dominant Charcot Marie Tooth disease type 21Feb 9, 2022
    MPDU1-CDG1Jan 30, 2019
    MPI-CDG1Mar 13, 2018
    MSH3-related attenuated familial adenomatous polyposis1Feb 9, 2022
    MSL3-Related Disorder1Apr 20, 2020
    MUTYH-related attenuated familial adenomatous polyposis2Feb 9, 2022
    MYH2-related myopathy1Mar 13, 2018
    MYH7-Related Disorders2Feb 9, 2022
    MYH7-related late-onset scapuloperoneal muscular dystrophy1Apr 20, 2020
    MYH9-related disorder1Jan 30, 2019
    MYO7A-related disorder1Jan 30, 2019
    MYOM1-related disorder1Aug 22, 2017
    Macrocephaly-autism syndrome1Feb 9, 2022
    Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Apr 20, 2020
    Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Aug 22, 2017
    Majeed syndrome1Mar 13, 2018
    Malignant hyperthermia of anesthesia1Aug 22, 2017
    Malignant hyperthermia, susceptibility to, 14Apr 20, 2020
    Malignant tumor of breast1Jan 30, 2019
    Mandibuloacral dysplasia with type A lipodystrophy1Feb 9, 2022
    Mannose-binding lectin deficiency1Aug 22, 2017
    Maple syrup urine disease type 1B1Apr 20, 2020
    Marfan syndrome5Apr 20, 2020
    Marshall syndrome2Feb 9, 2022
    Maturity-onset diabetes of the young type 21Apr 20, 2020
    Medium-chain acyl-coenzyme A dehydrogenase deficiency2Feb 9, 2022
    Megaconial type congenital muscular dystrophy1Feb 9, 2022
    Megalencephalic leukoencephalopathy with subcortical cysts 2A1Feb 9, 2022
    Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1Feb 9, 2022
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Jan 30, 2019
    Meier-Gorlin syndrome 11Aug 22, 2017
    Meier-Gorlin syndrome 41Aug 22, 2017
    Melanoma, cutaneous malignant, susceptibility to, 11Feb 9, 2022
    Melnick-Needles syndrome1Aug 22, 2017
    Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1Jan 30, 2019
    Merosin deficient congenital muscular dystrophy6Jan 30, 2019
    Metachromatic leukodystrophy2Apr 20, 2020
    Methylcobalamin deficiency type cblE1Feb 9, 2022
    Methylmalonic aciduria and homocystinuria type cblF2Jan 30, 2019
    Microcephalic osteodysplastic primordial dwarfism type II1Mar 13, 2018
    Microcephalic primordial dwarfism due to ZNF335 deficiency2Mar 13, 2018
    Microcephaly 3, primary, autosomal recessive2Mar 13, 2018
    Microcephaly 9, primary, autosomal recessive1Mar 13, 2018
    Microcephaly, normal intelligence and immunodeficiency1Apr 20, 2020
    Microcephaly, seizures, and developmental delay1Apr 20, 2020
    Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Feb 9, 2022
    Migraine, familial hemiplegic, 11Jan 30, 2019
    Mitochondrial DNA depletion syndrome 111Mar 13, 2018
    Mitochondrial DNA depletion syndrome 31Jan 30, 2019
    Mitochondrial DNA depletion syndrome 4b2Mar 13, 2018
    Mitochondrial DNA depletion syndrome 91Apr 20, 2020
    Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Feb 9, 2022
    Mitochondrial DNA depletion syndrome, hepatocerebral form2Apr 20, 2020
    Mitochondrial DNA-Associated Leigh Syndrome and NARP3Feb 9, 2022
    Mitochondrial DNA-related disorder3Aug 22, 2017
    Mitochondrial complex 1 deficiency, nuclear type 51Apr 20, 2020
    Mitochondrial complex I deficiency4Mar 13, 2018
    Mitochondrial complex I deficiency, nuclear type 11Feb 9, 2022
    Mitochondrial disease1Nov 24, 2021
    Mitochondrial-DNA disorder1Mar 13, 2018
    Miyoshi muscular dystrophy 11Jan 30, 2019
    Miyoshi muscular dystrophy 33Mar 13, 2018
    Miyoshi myopathy1Nov 24, 2021
    Monosomy 13q341Feb 9, 2022
    Mosaic supernumerary isodicentric chromosome 101Feb 9, 2022
    Moyamoya disease1Feb 9, 2022
    Moyamoya disease 51Feb 9, 2022
    Mucopolysaccharidosis type 11Apr 20, 2020
    Mucopolysaccharidosis, MPS-II1Feb 9, 2022
    Mucopolysaccharidosis, MPS-IV-B1Mar 13, 2018
    Multiminicore myopathy1Aug 22, 2017
    Multiple endocrine neoplasia, type 12Apr 20, 2020
    Multiple endocrine neoplasia, type 2a3Feb 9, 2022
    Multiple fibrofolliculomas3Feb 9, 2022
    Multisystemic smooth muscle dysfunction syndrome1Feb 9, 2022
    Muscle AMP deaminase deficiency2Feb 9, 2022
    Muscular dystrophy2Aug 22, 2017
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A22Jan 30, 2019
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Feb 9, 2022
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61Feb 9, 2022
    Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B22Jan 30, 2019
    Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31Feb 9, 2022
    Muscular dystrophy-dystroglycanopathy type B61Feb 9, 2022
    Mycobacterium tuberculosis, susceptibility to1Mar 13, 2018
    Myeloperoxidase deficiency2Aug 22, 2017
    Myoclonic-atonic epilepsy1Aug 22, 2017
    Myofibrillar myopathy 11Feb 9, 2022
    Myofibrillar myopathy 53Feb 9, 2022
    Myopathy, centronuclear, 21Mar 13, 2018
    Myopathy, myofibrillar, 9, with early respiratory failure10Nov 24, 2021
    Myosin storage myopathy1Apr 20, 2020
    NACC1-Related Disorder1Feb 9, 2022
    NARP syndrome1Mar 13, 2018
    NFIA-related disorders1Jan 30, 2019
    NGF-Related Disorder1Feb 9, 2022
    NOTCH1-Related Disorders1Mar 13, 2018
    NRXN-Related Disorder1Aug 22, 2017
    NRXN1-related disorder1Feb 9, 2022
    NT5E-Related Disorder2Feb 9, 2022
    Nail-patella syndrome3Feb 9, 2022
    Navajo neurohepatopathy1Feb 9, 2022
    Nebulin-related early-onset distal myopathy2Feb 9, 2022
    Nemaline myopathy1Aug 22, 2017
    Nemaline myopathy 24Feb 9, 2022
    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 61Feb 9, 2022
    Neurodegeneration with brain iron accumulation 81Jan 30, 2019
    Neurodevelopmental and congenital anomalies1Jan 30, 2019
    Neurodevelopmental disorder1Nov 24, 2021
    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 recessive1Apr 20, 2020
    Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements2Feb 9, 2022
    Neurofibromatosis, type 17Feb 9, 2022
    Neuronal ceroid lipofuscinosis 11Jan 30, 2019
    Neuronal ceroid lipofuscinosis 23Jul 17, 2020
    Neuronal ceroid lipofuscinosis 51Apr 20, 2020
    Neuronal ceroid lipofuscinosis 81Aug 22, 2017
    Neuronopathy, distal hereditary motor, type 5A1Aug 22, 2017
    Neuropathy, hereditary sensory and autonomic, type 1C1Aug 22, 2017
    Neuropathy, hereditary sensory and autonomic, type 2A2Feb 9, 2022
    Neuropathy, hereditary sensory, type 2C2Apr 20, 2020
    Nicolaides-Baraitser syndrome1Apr 20, 2020
    Niemann-Pick disease, type C11Aug 22, 2017
    Niemann-Pick disease, type C21Mar 13, 2018
    Nijmegen breakage syndrome-like disorder1Feb 9, 2022
    Non-syndromic intellectual disability1Mar 13, 2018
    Nonprogressive cerebellar atxia with intellectual disability1Apr 20, 2020
    Nonsyndromic Hearing Loss, Recessive1Nov 24, 2021
    Noonan syndrome1Mar 13, 2018
    Noonan syndrome 101Apr 20, 2020
    Noonan syndrome 61Mar 13, 2018
    Norman-Roberts syndrome1Mar 13, 2018
    Oligodontia-cancer predisposition syndrome1Feb 9, 2022
    Optic atrophy1Mar 13, 2018
    Optic atrophy 32Feb 9, 2022
    Osteocraniostenosis1Apr 20, 2020
    Osteogenesis imperfecta3Feb 9, 2022
    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
    Osteoporosis with pseudoglioma1Feb 9, 2022
    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
    Ovarian dysgenesis 12Feb 9, 2022
    Ovarian hyperstimulation syndrome2Feb 9, 2022
    PALB2-Related Disorders1Feb 9, 2022
    PDX1-Related Disorder1Feb 9, 2022
    PGK1-Related Disorder1Feb 9, 2022
    PGM1-CDG1Aug 22, 2017
    PHIP-Related Disorder1Jan 30, 2019
    PHIP-Related disorders1Jan 30, 2019
    PIGT-related disorder3Feb 9, 2022
    PINK1-Related Parkinsonism1Aug 22, 2017
    PLOD3-Related Disorder1Apr 20, 2020
    POGZ-Related Disorder1Feb 9, 2022
    POLG- Related Disorder1Mar 13, 2018
    POLG-related disorders5Jan 30, 2019
    POLR3B-Related Disorder1Apr 20, 2020
    POMGNT1-Related Disorders1Feb 9, 2022
    PPP2R1A-related disorder1Jan 30, 2019
    PPP2R2B-Related Disorder1Apr 20, 2020
    PPP2R5D-Related Disorder1Feb 9, 2022
    PTCH2-related disease1Feb 9, 2022
    Palmoplantar keratoderma-esophageal carcinoma syndrome1Apr 20, 2020
    Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Apr 20, 2020
    Pancreatitis1Jan 30, 2019
    Paragangliomas 41Mar 13, 2018
    Parkinson disease, late-onset1Jan 30, 2019
    Paroxysmal extreme pain disorder2Feb 9, 2022
    Partial androgen insensitivity syndrome1Apr 20, 2020
    Pendred syndrome1Feb 9, 2022
    Periodic fever syndrome1Aug 22, 2017
    Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1Apr 20, 2020
    Periventricular heterotopia with microcephaly, autosomal recessive1Aug 22, 2017
    Permanent neonatal diabetes mellitus1Apr 20, 2020
    Peroxisome biogenesis disorder1Mar 13, 2018
    Peroxisome biogenesis disorder 1A (Zellweger)2Feb 9, 2022
    Peroxisome biogenesis disorder 1B2Feb 9, 2022
    Peroxisome biogenesis disorder 8A (Zellweger)1Jan 30, 2019
    Peroxisome biogenesis disorder 8B1Jan 30, 2019
    Perrault syndrome 11Aug 22, 2017
    Perrault syndrome 31Feb 9, 2022
    Pettigrew syndrome1Feb 9, 2022
    Peutz-Jeghers syndrome1Aug 22, 2017
    Phenylketonuria2Mar 13, 2018
    Pheochromocytoma1Mar 13, 2018
    Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1Aug 22, 2017
    Pigmentary retinal dystrophy1Feb 9, 2022
    Pigmented nodular adrenocortical disease, primary, 11Feb 9, 2022
    Pitt-Hopkins-like syndrome 21Feb 9, 2022
    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
    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 21Feb 9, 2022
    Pontocerebellar hypoplasia type 41Feb 9, 2022
    Pontocerebellar hypoplasia, type 1C1Mar 13, 2018
    Primary ciliary dyskinesia 111Aug 22, 2017
    Primary ciliary dyskinesia 341Mar 13, 2018
    Primary dilated cardiomyopathy4Apr 20, 2020
    Primary erythromelalgia2Feb 9, 2022
    Primary familial hypertrophic cardiomyopathy1Feb 9, 2022
    Primary hyperoxaluria, type II1Mar 13, 2018
    Primary hypomagnesemia2Feb 9, 2022
    Primary open angle glaucoma1Feb 9, 2022
    Progressive encephalopathy with leukodystrophy due to DECR deficiency1Feb 9, 2022
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12Mar 13, 2018
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51Apr 20, 2020
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Mar 13, 2018
    Progressive sclerosing poliodystrophy2Mar 13, 2018
    Propionic acidemia1Mar 13, 2018
    Prostate cancer susceptibility1Feb 9, 2022
    Pseudo von Willebrand disease1Mar 13, 2018
    Pseudoxanthoma elasticum3Feb 9, 2022
    Pyridoxal phosphate-responsive seizures1Feb 9, 2022
    Pyruvate carboxylase deficiency2Feb 9, 2022
    Pyruvate dehydrogenase E3-binding protein deficiency1Nov 17, 2017
    Qualitative or quantitative defects of dysferlin1Aug 22, 2017
    Qualitative or quantitative defects of dystrophin1Feb 9, 2022
    RAB39B-Related Disorder1Feb 9, 2022
    RASopathy2Aug 22, 2017
    RPE65-Related Disorders2Apr 20, 2020
    RRM2B-related mitochondrial disease1Feb 9, 2022
    RTEL1-related Disorders1Mar 13, 2018
    RYR1-Related Disorder3Aug 22, 2017
    RYR1-Related Disorders3Feb 9, 2022
    Radial aplasia-thrombocytopenia syndrome1Mar 13, 2018
    Rapadilino syndrome1Feb 9, 2022
    Refractory anemia with ringed sideroblasts (clinical)1Aug 22, 2017
    Renal carnitine transport defect1Mar 13, 2018
    Renal coloboma syndrome1Mar 13, 2018
    Renal tubular acidosis, distal, 4, with hemolytic anemia1Mar 13, 2018
    Renier-Gabreels-Jasper syndrome1Apr 20, 2020
    Retinitis pigmentosa3Feb 9, 2022
    Retinitis pigmentosa 311Jan 30, 2019
    Retinitis pigmentosa 381Feb 9, 2022
    Retinitis pigmentosa 402Jan 30, 2019
    Retinitis pigmentosa 761Feb 9, 2022
    Retinoblastoma2Feb 9, 2022
    Rett syndrome2Feb 9, 2022
    Rett syndrome, congenital variant1Apr 20, 2020
    Revesz syndrome1Feb 9, 2022
    Rh-null, regulator type1Apr 20, 2020
    Rothmund-Thomson syndrome type 21Feb 9, 2022
    Roussy-Lévy syndrome1Jan 30, 2019
    Rubinstein-Taybi syndrome due to 16p13.3 microdeletion2Apr 20, 2020
    Rubinstein-Taybi syndrome due to CREBBP mutations1Aug 22, 2017
    SAMD9-Related Disorder1Feb 9, 2022
    SATB2-Related Disorder1Mar 13, 2018
    SCN10A-Related Disorder1Aug 22, 2017
    SCN1B-Related Disorder1Mar 13, 2018
    SCN2A-related disorder4Feb 9, 2022
    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
    SHANK2-related disorder1Feb 9, 2022
    SHANK3-Related Disorder2Jan 30, 2019
    SHORT syndrome2Feb 9, 2022
    SLC26A4-Related Disorders1Feb 9, 2022
    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
    SPATA5-Related Disorder2Feb 9, 2022
    SQSTM1-related disorder1Aug 22, 2017
    STAG1-Related Disorders1Mar 13, 2018
    STAT1-Related Disorder1Aug 22, 2017
    STRA6-Related Disorder1Aug 22, 2017
    STT3B-CDG1Mar 13, 2018
    SUDDEN INFANT DEATH SYNDROME1Aug 22, 2017
    Scapuloperoneal spinal muscular atrophy1Feb 9, 2022
    Schaaf-Yang syndrome1Apr 20, 2020
    Schizophrenia2Feb 9, 2022
    Schuurs-Hoeijmakers syndrome1Jan 30, 2019
    Schwartz-Jampel syndrome type 12Feb 9, 2022
    Seckel syndrome2Feb 9, 2022
    Seckel syndrome 51Mar 13, 2018
    Seizure1Apr 20, 2020
    Seizures, benign familial infantile, 21Apr 20, 2020
    Seizures, benign familial infantile, 32Apr 20, 2020
    Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Mar 13, 2018
    Severe combined immunodeficiency disease1Aug 22, 2017
    Severe early-childhood-onset retinal dystrophy2Aug 22, 2017
    Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3Apr 20, 2020
    Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1Aug 22, 2017
    Severe myoclonic epilepsy in infancy2Nov 18, 2020
    Short QT syndrome type 11Feb 9, 2022
    Short stature-brachydactyly-obesity-global developmental delay syndrome2Mar 13, 2018
    Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Aug 22, 2017
    Short-rib thoracic dysplasia 14 with polydactyly2Feb 9, 2022
    Sick sinus syndrome1Aug 22, 2017
    Singleton-Merten syndrome 11Apr 20, 2020
    Sjögren-Larsson syndrome2Feb 9, 2022
    Small cell carcinoma of the ovary, hypercalcemic type1Feb 9, 2022
    Smith-Lemli-Opitz syndrome2Feb 9, 2022
    Smith-Magenis syndrome1Apr 20, 2020
    Spastic paraplegia, intellectual disability, nystagmus, and obesity;1Aug 22, 2017
    Spherocytosis1Nov 24, 2021
    Spinal muscular atrophy1Aug 22, 2017
    Spinal muscular atrophy with lower extremity predominance1Feb 9, 2022
    Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1Mar 13, 2018
    Spinocerebellar ataxia 441Feb 9, 2022
    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 421Apr 20, 2020
    Spinocerebellar ataxia type 52Mar 13, 2018
    Spinocerebellar ataxia type 61Jan 30, 2019
    Spondyloepimetaphyseal dysplasia with multiple dislocations1Feb 9, 2022
    Spongy degeneration of central nervous system1Feb 9, 2022
    Stankiewicz-Isidor syndrome1Apr 20, 2020
    Stargardt disease5Apr 20, 2020
    Sterol carrier protein 2 deficiency1Mar 13, 2018
    Stickler syndrome type 22Feb 9, 2022
    Stickler syndrome, type 51Aug 22, 2017
    Succinate-semialdehyde dehydrogenase deficiency3Feb 9, 2022
    Supravalvar aortic stenosis3Feb 9, 2022
    Susceptibility to severe cutaneous adverse reaction1Aug 22, 2017
    Syndromic X-linked intellectual disability 941Feb 9, 2022
    Syndromic X-linked intellectual disability Claes-Jensen type2Apr 20, 2020
    Syndromic X-linked intellectual disability Lubs type1Feb 9, 2022
    Syndromic X-linked intellectual disability Siderius type1Aug 22, 2017
    TANGO2-Related disorder1Aug 22, 2017
    TBL1XR1-Related Disorder3Feb 9, 2022
    TCF12-related craniosynostosis1Jan 30, 2019
    TERT-associated disorder1Aug 22, 2017
    TLK2-Related Disorder1Jan 30, 2019
    TNF receptor-associated periodic fever syndrome (TRAPS)1Feb 9, 2022
    TRAF7-Related Disorder1Apr 20, 2020
    TRPM3 related disorder1Feb 9, 2022
    TRPV4-related bone disorder1Feb 9, 2022
    TRRAP-Related Disorder2Feb 9, 2022
    TSC2-Related Disorder1Aug 22, 2017
    TTN-Related Disorders4Apr 20, 2020
    TTN-Related disorder1Aug 22, 2017
    Tall stature-intellectual disability-facial dysmorphism syndrome3Apr 20, 2020
    Thiamine-responsive megaloblastic anemia1Aug 22, 2017
    Thoracic aortic dissection1Aug 22, 2017
    Thrombocythemia 31Mar 13, 2018
    Tibial muscular dystrophy9Nov 24, 2021
    Torsion dystonia 41Apr 20, 2020
    Transketolase deficiency1Mar 13, 2018
    Treacher-Collins syndrome 11Mar 13, 2018
    Trichorhinophalangeal syndrome, type III1Feb 9, 2022
    Tuberous sclerosis 11Jan 30, 2019
    Tuberous sclerosis syndrome1Aug 22, 2017
    Turcot syndrome3Apr 20, 2020
    Type 2 collagenopathy1Feb 9, 2022
    Type 2 diabetes mellitus2Apr 20, 2020
    Tyrosinase-positive oculocutaneous albinism2Mar 13, 2018
    UBTF-Related Disorder1Jan 30, 2019
    UNC80-Related Disorder2Aug 22, 2017
    UPF3B-associated intellectual disability1Nov 24, 2021
    USH2A-Related Disorders6Feb 9, 2022
    USP9X related disorders1Feb 9, 2022
    Ullrich congenital muscular dystrophy 14Feb 9, 2022
    Ullrich congenital muscular dystrophy 23Feb 9, 2022
    Undetermined early-onset epileptic encephalopathy1Apr 20, 2020
    Usher syndrome2Feb 9, 2022
    Usher syndrome type 12Apr 20, 2020
    Usher syndrome type 1D2Jan 30, 2019
    Usher syndrome type 3A1Feb 9, 2022
    Van Buchem disease type 21Feb 9, 2022
    Van Maldergem syndrome 11Feb 9, 2022
    Van Maldergem syndrome 21Feb 9, 2022
    Vanishing white matter disease2Jan 30, 2019
    Visceral heterotaxy 5, autosomal1Mar 13, 2018
    Vitamin B12-responsive methylmalonic acidemia type cblA1Feb 9, 2022
    Vitamin K-dependent clotting factors, combined deficiency of, type 11Feb 9, 2022
    Vitelliform macular dystrophy 11Aug 22, 2017
    Von Hippel-Lindau syndrome1Feb 9, 2022
    WDR81-Related Disorder1Feb 9, 2022
    WFS1-Related Spectrum Disorders2Feb 9, 2022
    Waardenburg syndrome type 4A1Mar 13, 2018
    Warsaw breakage syndrome2Mar 13, 2018
    Weill-Marchesani syndrome1Jan 30, 2019
    Werner syndrome1Apr 20, 2020
    Wieacker-Wolff syndrome1Mar 13, 2018
    Williams syndrome2Feb 9, 2022
    Wilson disease7Feb 9, 2022
    Wolfram syndrome2Feb 9, 2022
    Wolfram syndrome 13Mar 13, 2018
    Wolfram-like syndrome5Feb 9, 2022
    X-linked Alport syndrome1Jan 30, 2019
    X-linked chondrodysplasia punctata 11Feb 9, 2022
    X-linked dystonia-parkinsonism1Feb 9, 2022
    X-linked ichthyosis with steryl-sulfatase deficiency1Feb 9, 2022
    X-linked intellectual disability syndrome1Aug 22, 2017
    X-linked intellectual disability, Cantagrel type1Jan 30, 2019
    X-linked intellectual disability-hypotonic face syndrome1Aug 22, 2017
    X-linked myopathy with postural muscle atrophy1Apr 20, 2020
    ZTTK syndrome1Feb 9, 2022
    alpha Thalassemia1Apr 20, 2020
    beta Thalassemia1Mar 13, 2018
    mtDNA-related disorders1Aug 22, 2017
    not provided848Feb 9, 2022
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