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Counsyl

General information

Counsyl

180 Kimball Way
South San Francisco
California
United States - 94080
http://www.counsyl.com/
Organization ID: 320494

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 20732

    Gene

    GeneSubmissionsLast Updated
    ABCC8168Jun 25, 2025
    ABCD12Jun 25, 2025
    ACADM96Jun 25, 2025
    ACADS71Jun 25, 2025
    ACADVL183Jun 25, 2025
    ADA46Jun 25, 2025
    ADAMTS26Jun 25, 2025
    AGA33Jun 25, 2025
    AGA-DT7Jun 25, 2025
    AGL127Jun 25, 2025
    AGXT58Jun 25, 2025
    AIRE66Jun 25, 2025
    ALDH3A255Jun 25, 2025
    ALDOB38Jun 25, 2025
    ALG111Jun 25, 2025
    ALG637Jun 25, 2025
    ALMS1688Jun 25, 2025
    ALPL94Jun 25, 2025
    AMT45Jun 25, 2025
    AOPEP59Jun 25, 2025
    APBB12Jun 25, 2025
    APC309Jun 25, 2025
    ARFRP12Jun 25, 2025
    ARG132Jun 25, 2025
    ARSA94Jun 25, 2025
    ASL59Jun 25, 2025
    ASNS1Jun 25, 2025
    ASPA51Jun 25, 2025
    ASS167Jun 25, 2025
    ATM482Jun 25, 2025
    ATP6V1B116Jun 25, 2025
    ATP6V1B1-AS11Jun 25, 2025
    ATP7B266Jun 25, 2025
    AXDND122Jun 25, 2025
    BARD160Jun 25, 2025
    BBS158Jun 25, 2025
    BBS1083Jun 25, 2025
    BBS1255Jun 25, 2025
    BBS261Jun 25, 2025
    BCHE57Jun 25, 2025
    BCKDHA40Jun 25, 2025
    BCKDHB61Jun 25, 2025
    BCS1L44Jun 25, 2025
    BLM125Jun 25, 2025
    BMPR1A36Jun 25, 2025
    BRCA1583Jun 25, 2025
    BRCA2927Jun 25, 2025
    BRIP1275Jun 25, 2025
    BTD117Jun 25, 2025
    C11orf65177Jun 25, 2025
    CAPN3170Jun 25, 2025
    CBS86Jun 25, 2025
    CDH1146Jun 25, 2025
    CDK414Jun 25, 2025
    CDKL511Jun 25, 2025
    CDKN2A56Jun 25, 2025
    CERKL3Jun 25, 2025
    CFTR464Jun 25, 2025
    CFTR-AS136Jun 25, 2025
    CFTR-AS295Jun 25, 2025
    CHEK2165Jun 25, 2025
    CHM2Jun 25, 2025
    CHPT14Jun 25, 2025
    CLN340Jun 25, 2025
    CLN542Jun 25, 2025
    CLN635Jun 25, 2025
    CLN827Jun 25, 2025
    CLN8-AS11Jun 25, 2025
    CLRN132Jun 25, 2025
    CLRN1-AS14Jun 25, 2025
    CNGB342Jun 25, 2025
    COL4A391Jun 25, 2025
    COL4A4104Jun 25, 2025
    COL4A53Jun 25, 2025
    CPS182Jun 25, 2025
    CPT1A39Jun 25, 2025
    CPT2107Jun 25, 2025
    CTNS58Jun 25, 2025
    CTNS-AS125Jun 25, 2025
    CTSK36Jun 25, 2025
    CYBA1Jun 25, 2025
    CYP11B153Jun 25, 2025
    CYP21A28Mar 11, 2015
    CYP27A157Jun 25, 2025
    CZ1P-ASNS1Jun 25, 2025
    DBT34Jun 25, 2025
    DCTN51Jun 25, 2025
    DHCR7101Jun 25, 2025
    DLD25Jun 25, 2025
    DLG418Jun 25, 2025
    DMD15Jun 25, 2025
    DNAH548Jun 25, 2025
    DNAH5-AS15Jun 25, 2025
    DNAI115Jun 25, 2025
    DNAI27Jun 25, 2025
    DPYD79Jun 25, 2025
    DPYD-AS119Jun 25, 2025
    DVL22Jun 25, 2025
    DYSF177Jun 25, 2025
    ELP172Jun 25, 2025
    EPCAM2Jun 25, 2025
    ERCC686Jun 25, 2025
    ERCC836Jun 25, 2025
    ERCC8-AS16Jun 25, 2025
    EVC79Jun 25, 2025
    EVC273Jun 25, 2025
    EYS53Jun 25, 2025
    F1194Jun 25, 2025
    F11-AS118Jun 25, 2025
    F21Jun 25, 2025
    FAH52Jun 25, 2025
    FAM161A7Jun 25, 2025
    FANCA192Jun 25, 2025
    FANCC80Jun 25, 2025
    FBXL327Jun 25, 2025
    FBXO111Jun 25, 2025
    FKRP63Jun 25, 2025
    FKTN33Jun 25, 2025
    FKTN-AS11Jun 25, 2025
    FNDC81Jun 25, 2025
    G6PC145Jun 25, 2025
    G6PD5Jun 25, 2025
    GAA196Jun 25, 2025
    GALC124Jun 25, 2025
    GALE1Jun 25, 2025
    GALK135Jun 25, 2025
    GALT96Jun 25, 2025
    GAREM240Jun 25, 2025
    GATAD145Jun 25, 2025
    GBA11Jun 25, 2025
    GBE19Jun 25, 2025
    GCDH99Jun 25, 2025
    GFM23Jun 25, 2025
    GJB11Mar 11, 2015
    GJB2137Jun 25, 2025
    GJB61Jun 25, 2025
    GLA3Jun 25, 2025
    GLB1103Jun 25, 2025
    GLDC98Jun 25, 2025
    GML9Jun 25, 2025
    GNE84Jun 25, 2025
    GNPTAB62Jun 25, 2025
    GNPTG45Jun 25, 2025
    GRHPR51Jun 25, 2025
    HACL14Jun 25, 2025
    HADHA69Jun 25, 2025
    HBA12Jun 25, 2025
    HBB41Jun 25, 2025
    HEXA142Jun 25, 2025
    HEXA-AS11Jun 25, 2025
    HEXB60Jun 25, 2025
    HGD46Jun 25, 2025
    HGSNAT40Jun 25, 2025
    HLCS34Jun 25, 2025
    HMGCL31Jun 25, 2025
    HNRNPH21Jun 25, 2025
    HOGA127Jun 25, 2025
    HPS33Jun 25, 2025
    HSD17B461Jun 25, 2025
    HYLS110Jun 25, 2025
    IDS1Jun 25, 2025
    IDUA150Jun 25, 2025
    IL2RG1Jun 25, 2025
    INSRR2Jun 25, 2025
    ITGB44Jun 25, 2025
    IVD46Jun 25, 2025
    KCNJ1135Jun 25, 2025
    KIRREL26Jun 25, 2025
    KLLN5Jun 25, 2025
    LAMA2177Jun 25, 2025
    LAMA3140Jun 25, 2025
    LAMB376Jun 25, 2025
    LAMC258Jun 25, 2025
    LIPA29Jun 25, 2025
    LOC1053783114Jun 25, 2025
    LOC10609906230Jun 25, 2025
    LOC1066279811Jun 25, 2025
    LOC10679983338Jun 25, 2025
    LOC10713351041Jun 25, 2025
    LOC10730334016Jun 25, 2025
    LOC1073033436Jun 25, 2025
    LOC1074575851Jun 25, 2025
    LOC1078821261Jun 25, 2025
    LOC11000631912Jun 25, 2025
    LOC1101214712Jun 25, 2025
    LOC1101215022Jun 25, 2025
    LOC1106739722Jun 25, 2025
    LOC1114130291Jun 25, 2025
    LOC1115892159Jun 25, 2025
    LOC11167446311Jun 25, 2025
    LOC11167447244Jun 25, 2025
    LOC11167447516Jun 25, 2025
    LOC11167447715Jun 25, 2025
    LOC1122726211Jun 25, 2025
    LOC1124862239Jun 25, 2025
    LOC1136641066Jun 25, 2025
    LOC11712559411Jun 25, 2025
    LOC12215229613Jun 25, 2025
    LOC1227871371Jun 25, 2025
    LOC1238640651Jun 25, 2025
    LOC12395621014Jun 25, 2025
    LOC1254462611Jun 25, 2025
    LOC1268059483Jun 25, 2025
    LOC12680625241Jun 25, 2025
    LOC1268063731Jun 25, 2025
    LOC1268069615Jun 25, 2025
    LOC1268073181Jun 25, 2025
    LOC12685969015Jun 25, 2025
    LOC1268597841Jun 25, 2025
    LOC1268604387Jun 25, 2025
    LOC1268609333Jun 25, 2025
    LOC1268612443Jun 25, 2025
    LOC1268616158Jun 25, 2025
    LOC1268620972Jun 25, 2025
    LOC1268621154Jun 25, 2025
    LOC1268622647Jun 25, 2025
    LOC12686257179Jun 25, 2025
    LOC1268627075Jun 25, 2025
    LOC12686286010Jun 25, 2025
    LOC1293888573Jun 25, 2025
    LOC1293906832Jun 25, 2025
    LOC1293909033Jun 25, 2025
    LOC1293910642Jun 25, 2025
    LOC1299302451Jun 25, 2025
    LOC12993044611Jun 25, 2025
    LOC12993056120Jun 25, 2025
    LOC1299309981Jun 25, 2025
    LOC1299337074Jun 25, 2025
    LOC1299356094Jun 25, 2025
    LOC1299357303Jun 25, 2025
    LOC1299360561Jun 25, 2025
    LOC1299362447Jun 25, 2025
    LOC1299364341Jun 25, 2025
    LOC1299921442Jun 25, 2025
    LOC1299925855Jun 25, 2025
    LOC1299944601Jun 25, 2025
    LOC1299945694Jun 25, 2025
    LOC12999879610Jun 25, 2025
    LOC1300003164Jun 25, 2025
    LOC1300016036Jun 25, 2025
    LOC13000168311Jun 25, 2025
    LOC1300033741Jun 25, 2025
    LOC1300042732Jun 25, 2025
    LOC1300051937Jun 25, 2025
    LOC1300061421Jun 25, 2025
    LOC1300067001Jun 25, 2025
    LOC1300067653Jun 25, 2025
    LOC1300081482Jun 25, 2025
    LOC1300092665Jun 25, 2025
    LOC1300093662Jun 25, 2025
    LOC1300098383Jun 25, 2025
    LOC1300099138Jun 25, 2025
    LOC13005621711Jun 25, 2025
    LOC1300569212Jun 25, 2025
    LOC1300578916Jun 25, 2025
    LOC1300581588Jun 25, 2025
    LOC1300592901Jun 25, 2025
    LOC1300598376Jun 25, 2025
    LOC1300601137Jun 25, 2025
    LOC1300607152Jun 25, 2025
    LOC13006090317Jun 25, 2025
    LOC1300612715Jun 25, 2025
    LOC1300613104Jun 25, 2025
    LOC1300619003Jun 25, 2025
    LOC13006289910Jun 25, 2025
    LOC1300633761Jun 25, 2025
    LOC1300636481Jun 25, 2025
    LOC1300636509Jun 25, 2025
    LOC1300647094Jun 25, 2025
    LOC1300668132Jun 25, 2025
    LOC1300668141Jun 25, 2025
    LOC1300678625Jun 25, 2025
    LOC1300678641Jun 25, 2025
    LOC1320894543Jun 25, 2025
    LOC1320904451Jun 25, 2025
    LOC1320904502Jun 25, 2025
    LOXHD141Jun 25, 2025
    LRPPRC67Jun 25, 2025
    MAN2B172Jun 25, 2025
    MCOLN128Jun 25, 2025
    MCS+9.72Jun 25, 2025
    MED2331Jun 25, 2025
    MEFV10Jun 25, 2025
    MEN119Jun 25, 2025
    MESP234Jun 25, 2025
    MFF-DT88Jun 25, 2025
    MIR3936HG4Jun 25, 2025
    MIR42601Jun 25, 2025
    MKS158Jun 25, 2025
    MLC143Jun 25, 2025
    MLDHR1Jun 25, 2025
    MLH1163Jun 25, 2025
    MMAA31Jun 25, 2025
    MMAB26Jun 25, 2025
    MMACHC74Jun 25, 2025
    MMUT94Jun 25, 2025
    MPI32Jun 25, 2025
    MPL14Jun 25, 2025
    MRE1127Jun 25, 2025
    MSH2213Jun 25, 2025
    MSH6283Jun 25, 2025
    MTTP3Jun 25, 2025
    MUTYH131Jun 25, 2025
    MVK4Jun 25, 2025
    MYO7A252Jun 25, 2025
    NAGLU89Jun 25, 2025
    NBN115Jun 25, 2025
    NDUFAF24Jun 25, 2025
    NDUFS41Jun 25, 2025
    NEB351Jun 25, 2025
    NICN16Jun 25, 2025
    NPC1161Jun 25, 2025
    NPC213Jun 25, 2025
    NPHS1112Jun 25, 2025
    NPHS260Jun 25, 2025
    NR2E332Jun 25, 2025
    NTRK17Jun 25, 2025
    OAT3Jun 25, 2025
    OPA335Jun 25, 2025
    OSBPL81Jun 25, 2025
    OSGIN23Jun 25, 2025
    OTC1Jun 25, 2025
    PAH230Jun 25, 2025
    PALB2239Jun 25, 2025
    PC23Jun 25, 2025
    PCCA51Jun 25, 2025
    PCCB73Jun 25, 2025
    PCDH15272Jun 25, 2025
    PEX1165Jun 25, 2025
    PEX1045Jun 25, 2025
    PEX1249Jun 25, 2025
    PEX217Jun 25, 2025
    PEX652Jun 25, 2025
    PEX742Jun 25, 2025
    PFKM2Jun 25, 2025
    PGBD37Jun 25, 2025
    PHF313Jun 25, 2025
    PHGDH2Jun 25, 2025
    PHYH6Jun 25, 2025
    PKHD1303Jun 25, 2025
    PKIG1Jun 25, 2025
    PLCH24Jun 25, 2025
    PLXNB3-AS12Jun 25, 2025
    PMM265Jun 25, 2025
    PMS2137Jun 25, 2025
    POLD199Jun 25, 2025
    POLE151Jun 25, 2025
    POMGNT191Jun 25, 2025
    POMT11Jun 25, 2025
    PPT147Jun 25, 2025
    PROP129Jun 25, 2025
    PTEN54Jun 25, 2025
    PTS41Jun 25, 2025
    PUS310Jun 25, 2025
    PYGM71Jun 25, 2025
    RAD5043Jun 25, 2025
    RAD51C97Jun 25, 2025
    RAD51D73Jun 25, 2025
    RAD51L3-RFFL73Jun 25, 2025
    RAG23Jun 25, 2025
    RAPSN3Jun 25, 2025
    RET215Jun 25, 2025
    RIF1139Jun 25, 2025
    RMRP126Jun 25, 2025
    RPE6515Jun 25, 2025
    RPL36A-HNRNPH23Jun 25, 2025
    RS111Jun 25, 2025
    RTEL197Jun 25, 2025
    RTEL1-TNFRSF6B97Jun 25, 2025
    SACS276Jun 25, 2025
    SAMD99Jun 25, 2025
    SCO25Jun 25, 2025
    SDHA59Jun 25, 2025
    SDHB14Jun 25, 2025
    SDHC9Jun 25, 2025
    SERPINA127Jun 25, 2025
    SGCA49Jun 25, 2025
    SGCB30Jun 25, 2025
    SGCD43Jun 25, 2025
    SGCG21Jun 25, 2025
    SGSH62Jun 25, 2025
    SLC12A642Jun 25, 2025
    SLC17A546Jun 25, 2025
    SLC22A589Jun 25, 2025
    SLC26A151Jun 25, 2025
    SLC26A113Jun 25, 2025
    SLC26A2133Jun 25, 2025
    SLC26A4200Jun 25, 2025
    SLC26A4-AS116Jun 25, 2025
    SLC37A4344Jun 25, 2025
    SMAD433Jun 25, 2025
    SMN11Jun 25, 2025
    SMPD1113Jun 25, 2025
    SPATA2251Jun 25, 2025
    STAR28Jun 25, 2025
    STK11118Jun 25, 2025
    SUMF15Jun 25, 2025
    SYCE210Jun 25, 2025
    TAT22Jun 25, 2025
    TAT-AS113Jun 25, 2025
    TCIRG168Jun 25, 2025
    TECPR24Jun 25, 2025
    TEX121Jun 25, 2025
    TGM176Jun 25, 2025
    TH60Jun 25, 2025
    TH2-LCR1Jun 25, 2025
    TH2LCRR4Jun 25, 2025
    TMEM21626Jun 25, 2025
    TMEM431Jun 25, 2025
    TMPPE1Jun 25, 2025
    TNFRSF6B21Jun 25, 2025
    TOE13Jun 25, 2025
    TP53100Jun 25, 2025
    TPP153Jun 25, 2025
    TRMU5Jun 25, 2025
    TRPV11Mar 11, 2015
    TSPAN184Jun 25, 2025
    TSPAN314Jun 25, 2025
    TTPA21Jun 25, 2025
    TYMP8Jun 25, 2025
    USH1C113Jun 25, 2025
    USH2A504Jun 25, 2025
    USH2A-AS139Jun 25, 2025
    USH2A-AS225Jun 25, 2025
    VHL42Jun 25, 2025
    VPS13A5Jun 25, 2025
    VPS13B293Jun 25, 2025
    VPS533Jun 25, 2025
    VRK11Jun 25, 2025
    VSX21Jun 25, 2025
    XPA60Jun 25, 2025
    XPC86Jun 25, 2025
    ZDHHC2434Jun 25, 2025
    ZFYVE2662Jun 25, 2025
    ZMYND111Jun 25, 2025
    ZNF27635Jun 25, 2025

    Condition

    NameSubmissionsLast Updated
    21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia8Mar 11, 2015
    3-Methylglutaconic aciduria type 335Jun 25, 2025
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency41Jun 25, 2025
    ALG6-congenital disorder of glycosylation 1C37Jun 25, 2025
    Abetalipoproteinaemia3Jun 25, 2025
    Achondrogenesis, type IB23Jun 25, 2025
    Achromatopsia 342Jun 25, 2025
    Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins5Jun 25, 2025
    Adrenoleukodystrophy2Jun 25, 2025
    Agenesis of the corpus callosum with peripheral neuropathy42Jun 25, 2025
    Alkaptonuria46Jun 25, 2025
    Alpha-1-antitrypsin deficiency27Jun 25, 2025
    Alstrom syndrome688Jun 25, 2025
    Anemia, nonspherocytic hemolytic, due to G6PD deficiency5Jun 25, 2025
    Arginase deficiency32Jun 25, 2025
    Argininosuccinate lyase deficiency59Jun 25, 2025
    Aspartylglucosaminuria33Jun 25, 2025
    Ataxia-telangiectasia syndrome482Jun 25, 2025
    Ataxia-telangiectasia-like disorder 127Jun 25, 2025
    Atelosteogenesis type II25Jun 25, 2025
    Autosomal dominant nonsyndromic hearing loss 3A25Jun 25, 2025
    Autosomal recessive Alport syndrome195Jun 25, 2025
    Autosomal recessive DOPA responsive dystonia60Jun 25, 2025
    Autosomal recessive congenital ichthyosis 176Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2A170Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2B177Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2C21Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2D49Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2E30Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2F43Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2I63Jun 25, 2025
    Autosomal recessive limb-girdle muscular dystrophy type 2O5Jun 25, 2025
    Autosomal recessive nonsyndromic hearing loss 18A110Jun 25, 2025
    Autosomal recessive nonsyndromic hearing loss 1A112Jun 25, 2025
    Autosomal recessive nonsyndromic hearing loss 2243Jun 25, 2025
    Autosomal recessive nonsyndromic hearing loss 7741Jun 25, 2025
    Autosomal recessive osteopetrosis 168Jun 25, 2025
    Autosomal recessive polycystic kidney disease27Mar 11, 2015
    Bardet-Biedl syndrome5Mar 11, 2015
    Bardet-Biedl syndrome 153Jun 25, 2025
    Bardet-Biedl syndrome 1083Jun 25, 2025
    Bardet-Biedl syndrome 1255Jun 25, 2025
    Bardet-Biedl syndrome 1349Jun 25, 2025
    Bardet-Biedl syndrome 261Jun 25, 2025
    Becker muscular dystrophy5Jun 25, 2025
    Beta-thalassemia HBB/LCRB28Jun 25, 2025
    Bifunctional peroxisomal enzyme deficiency61Jun 25, 2025
    Biotinidase deficiency117Jun 25, 2025
    Bloom syndrome125Jun 25, 2025
    Breast-ovarian cancer, familial, susceptibility to, 1583Jun 25, 2025
    Breast-ovarian cancer, familial, susceptibility to, 2927Jun 25, 2025
    Breast-ovarian cancer, familial, susceptibility to, 364Jun 25, 2025
    Breast-ovarian cancer, familial, susceptibility to, 473Jun 25, 2025
    Carnitine palmitoyl transferase 1A deficiency39Jun 25, 2025
    Carnitine palmitoyl transferase II deficiency, myopathic form18Jun 25, 2025
    Carnitine palmitoyl transferase II deficiency, neonatal form18Jun 25, 2025
    Carnitine palmitoyl transferase II deficiency, severe infantile form71Jun 25, 2025
    Cerebrooculofacioskeletal syndrome 179Jun 25, 2025
    Ceroid lipofuscinosis, neuronal, 6A35Jun 25, 2025
    Charlevoix-Saguenay spastic ataxia275Jun 25, 2025
    Cholestanol storage disease57Jun 25, 2025
    Cholesteryl ester storage disease29Jun 25, 2025
    Choroideremia2Jun 25, 2025
    Citrullinemia type I67Jun 25, 2025
    Classic homocystinuria86Jun 25, 2025
    Cobalamin C disease74Jun 25, 2025
    Cockayne syndrome type 136Jun 25, 2025
    Cockayne syndrome type 279Jun 25, 2025
    Cohen syndrome293Jun 25, 2025
    Colorectal cancer, hereditary nonpolyposis, type 2162Jun 25, 2025
    Colorectal cancer, susceptibility to, 1099Jun 25, 2025
    Colorectal cancer, susceptibility to, 12151Jun 25, 2025
    Combined immunodeficiency with skin granulomas3Jun 25, 2025
    Congenital amegakaryocytic thrombocytopenia 114Jun 25, 2025
    Congenital hyperammonemia, type I82Jun 25, 2025
    Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type67Jun 25, 2025
    Congenital lipoid adrenal hyperplasia due to STAR deficency28Jun 25, 2025
    Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Jun 25, 2025
    Congenital myasthenic syndrome 113Jun 25, 2025
    Cowden syndrome 154Jun 25, 2025
    Cystic fibrosis464Jun 25, 2025
    DE SANCTIS-CACCHIONE SYNDROME86Jun 25, 2025
    Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase96Jun 25, 2025
    Deficiency of alpha-mannosidase72Jun 25, 2025
    Deficiency of butyryl-CoA dehydrogenase71Jun 25, 2025
    Deficiency of butyrylcholinesterase57Jun 25, 2025
    Deficiency of galactokinase35Jun 25, 2025
    Deficiency of hydroxymethylglutaryl-CoA lyase31Jun 25, 2025
    Deficiency of steroid 11-beta-monooxygenase53Jun 25, 2025
    Diabetes mellitus, transient neonatal, 335Jun 25, 2025
    Diastrophic dysplasia23Jun 25, 2025
    Dihydropyrimidine dehydrogenase deficiency79Jun 25, 2025
    Dilated cardiomyopathy 1L43Jun 25, 2025
    Dilated cardiomyopathy 3B5Jun 25, 2025
    Duchenne muscular dystrophy5Jun 25, 2025
    Dyskeratosis congenita, autosomal recessive 597Jun 25, 2025
    Ehlers-Danlos syndrome, dermatosparaxis type6Jun 25, 2025
    Ellis-van Creveld syndrome152Jun 25, 2025
    Enhanced S-cone syndrome32Jun 25, 2025
    Fabry disease3Jun 25, 2025
    Familial Mediterranean fever10Jun 25, 2025
    Familial adenomatous polyposis 1309Jun 25, 2025
    Familial adenomatous polyposis 2131Jun 25, 2025
    Familial cancer of breast464Jun 25, 2025
    Familial dysautonomia72Jun 25, 2025
    Familial isolated deficiency of vitamin E21Jun 25, 2025
    Fanconi anemia complementation group A192Jun 25, 2025
    Fanconi anemia complementation group C80Jun 25, 2025
    Fanconi anemia complementation group J190Jun 25, 2025
    Fanconi anemia complementation group O64Jun 25, 2025
    Fetal akinesia deformation sequence 13Jun 25, 2025
    Finnish congenital nephrotic syndrome112Jun 25, 2025
    GM1 gangliosidosis type 287Jun 25, 2025
    GM1 gangliosidosis type 387Jun 25, 2025
    GNE myopathy84Jun 25, 2025
    GNPTG-mucolipidosis45Jun 25, 2025
    GRACILE syndrome41Jun 25, 2025
    Galactosylceramide beta-galactosidase deficiency124Jun 25, 2025
    Gaucher disease type I1Jun 25, 2025
    Glucose-6-phosphate transport defect344Jun 25, 2025
    Glutaric aciduria, type 199Jun 25, 2025
    Glycine encephalopathy 1143Jun 25, 2025
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA45Jun 25, 2025
    Glycogen storage disease type III127Jun 25, 2025
    Glycogen storage disease, type II196Jun 25, 2025
    Glycogen storage disease, type IV9Jun 25, 2025
    Glycogen storage disease, type V71Jun 25, 2025
    Glycogen storage disease, type VII2Jun 25, 2025
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Jun 25, 2025
    Heimler syndrome 12Jun 25, 2025
    Hereditary diffuse gastric adenocarcinoma146Jun 25, 2025
    Hereditary factor XI deficiency disease94Jun 25, 2025
    Hereditary fructosuria38Jun 25, 2025
    Hereditary insensitivity to pain with anhidrosis7Jun 25, 2025
    Hereditary spastic paraplegia 1562Jun 25, 2025
    Hereditary spastic paraplegia 494Jun 25, 2025
    Hermansky-Pudlak syndrome 33Jun 25, 2025
    Hidrotic ectodermal dysplasia syndrome1Jun 25, 2025
    Histiocytic medullary reticulosis3Jun 25, 2025
    Holocarboxylase synthetase deficiency34Jun 25, 2025
    Hurler syndrome150Jun 25, 2025
    Hydrolethalus syndrome 110Jun 25, 2025
    Hyperinsulinemic hypoglycemia, familial, 1168Jun 25, 2025
    Hyperinsulinemic hypoglycemia, familial, 234Jun 25, 2025
    Infantile GM1 gangliosidosis87Jun 25, 2025
    Infantile hypophosphatasia94Jun 25, 2025
    Isovaleryl-CoA dehydrogenase deficiency46Jun 25, 2025
    Joubert syndrome 220Jun 25, 2025
    Joubert syndrome 2850Jun 25, 2025
    Junctional epidermolysis bullosa gravis of Herlitz273Jun 25, 2025
    Junctional epidermolysis bullosa, non-Herlitz type1Jun 25, 2025
    Juvenile polyposis syndrome69Jun 25, 2025
    Juvenile retinoschisis11Jun 25, 2025
    Kartagener syndrome15Jun 25, 2025
    Kugelberg-Welander disease1Jun 25, 2025
    Leber congenital amaurosis 215Jun 25, 2025
    Leigh syndrome1Jun 25, 2025
    Li-Fraumeni syndrome 1100Jun 25, 2025
    Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency69Jun 25, 2025
    Lynch syndrome 1214Jun 25, 2025
    Lynch syndrome 4137Jun 25, 2025
    Lynch syndrome 5283Jun 25, 2025
    Lynch syndrome 82Jun 25, 2025
    MPI-congenital disorder of glycosylation32Jun 25, 2025
    Maple syrup urine disease5Jul 10, 2018
    Maple syrup urine disease type 1A130Jun 25, 2025
    Meckel syndrome, type 149Jun 25, 2025
    Meckel syndrome, type 221Jun 25, 2025
    Medium-chain acyl-coenzyme A dehydrogenase deficiency96Jun 25, 2025
    Megalencephalic leukoencephalopathy with subcortical cysts 143Jun 25, 2025
    Melanoma, cutaneous malignant, susceptibility to, 314Jun 25, 2025
    Melanoma-pancreatic cancer syndrome56Jun 25, 2025
    Merosin deficient congenital muscular dystrophy177Jun 25, 2025
    Metachromatic leukodystrophy94Jun 25, 2025
    Metaphyseal chondrodysplasia, McKusick type126Jun 25, 2025
    Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency94Jun 25, 2025
    Methylmalonic aciduria, cblA type31Jun 25, 2025
    Methylmalonic aciduria, cblB type26Jun 25, 2025
    Microcephaly, normal intelligence and immunodeficiency115Jun 25, 2025
    Microphthalmia, isolated, with coloboma 31Jun 25, 2025
    Mitochondrial DNA depletion syndrome 18Jun 25, 2025
    Mitochondrial complex I deficiency, nuclear type 11Jun 25, 2025
    Mitochondrial complex III deficiency nuclear type 13Jun 25, 2025
    Mucolipidosis type II59Jun 25, 2025
    Mucolipidosis type IV28Jun 25, 2025
    Mucopolysaccharidosis, MPS-II1Jun 25, 2025
    Mucopolysaccharidosis, MPS-III-A62Jun 25, 2025
    Mucopolysaccharidosis, MPS-III-B89Jun 25, 2025
    Mucopolysaccharidosis, MPS-III-C40Jun 25, 2025
    Mucopolysaccharidosis, MPS-IV-B94Jun 25, 2025
    Multiple endocrine neoplasia type 2A144Jun 25, 2025
    Multiple endocrine neoplasia type 2B71Jun 25, 2025
    Multiple endocrine neoplasia, type 119Jun 25, 2025
    Multiple epiphyseal dysplasia type 462Jun 25, 2025
    Multiple sulfatase deficiency5Jun 25, 2025
    Muscle eye brain disease8Jul 10, 2018
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 433Jun 25, 2025
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A366Jun 25, 2025
    Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B35Jun 25, 2025
    Nemaline myopathy 2351Jun 25, 2025
    Nephropathic cystinosis58Jun 25, 2025
    Nephrotic syndrome, type 260Jun 25, 2025
    Neu-Laxova syndrome 12Jun 25, 2025
    Neuronal ceroid lipofuscinosis 147Jun 25, 2025
    Neuronal ceroid lipofuscinosis 253Jun 25, 2025
    Neuronal ceroid lipofuscinosis 340Jun 25, 2025
    Neuronal ceroid lipofuscinosis 542Jun 25, 2025
    Neuronal ceroid lipofuscinosis 827Jun 25, 2025
    Niemann-Pick disease, type A102Jun 25, 2025
    Niemann-Pick disease, type B11Jun 25, 2025
    Niemann-Pick disease, type C1161Jun 25, 2025
    Niemann-Pick disease, type C213Jun 25, 2025
    Nijmegen breakage syndrome-like disorder43Jun 25, 2025
    Normophosphatemic familial tumoral calcinosis9Jun 25, 2025
    Ornithine aminotransferase deficiency3Jun 25, 2025
    Ornithine carbamoyltransferase deficiency1Jun 25, 2025
    Ovarian cancer190Jun 25, 2025
    PHGDH deficiency2Jun 25, 2025
    PMM2-congenital disorder of glycosylation65Jun 25, 2025
    Pendred syndrome200Jun 25, 2025
    Permanent neonatal diabetes mellitus 134Jun 25, 2025
    Peroxisome biogenesis disorder 1A (Zellweger)119Jun 25, 2025
    Peroxisome biogenesis disorder 1B44Jun 25, 2025
    Peroxisome biogenesis disorder 3A (Zellweger)47Jun 25, 2025
    Peroxisome biogenesis disorder 4A (Zellweger)48Jun 25, 2025
    Peroxisome biogenesis disorder 4B51Jun 25, 2025
    Peroxisome biogenesis disorder 5A (Zellweger)14Jun 25, 2025
    Peroxisome biogenesis disorder 5B15Jun 25, 2025
    Peroxisome biogenesis disorder 6A (Zellweger)40Jun 25, 2025
    Peroxisome biogenesis disorder 6B42Jun 25, 2025
    Peroxisome biogenesis disorder type 3B46Jun 25, 2025
    Peutz-Jeghers syndrome118Jun 25, 2025
    Phenylketonuria230Jun 25, 2025
    Pheochromocytoma/paraganglioma syndrome 39Jun 25, 2025
    Pheochromocytoma/paraganglioma syndrome 414Jun 25, 2025
    Pheochromocytoma/paraganglioma syndrome 560Jun 25, 2025
    Phytanic acid storage disease6Jun 25, 2025
    Pituitary hormone deficiency, combined, 229Jun 25, 2025
    Polycystic kidney disease 4276Jun 25, 2025
    Polyglandular autoimmune syndrome, type 166Jun 25, 2025
    Pontocerebellar hypoplasia type 1A1Jun 25, 2025
    Pontocerebellar hypoplasia type 2E3Jun 25, 2025
    Primary ciliary dyskinesia 348Jun 25, 2025
    Primary ciliary dyskinesia 97Jun 25, 2025
    Primary hyperoxaluria type 327Jun 25, 2025
    Primary hyperoxaluria, type I58Jun 25, 2025
    Primary hyperoxaluria, type II51Jun 25, 2025
    Propionic acidemia124Jun 25, 2025
    Pseudo-Hurler polydystrophy61Jun 25, 2025
    Pyknodysostosis36Jun 25, 2025
    Pyruvate carboxylase deficiency23Jun 25, 2025
    Pyruvate dehydrogenase E3 deficiency25Jun 25, 2025
    Renal carnitine transport defect89Jun 25, 2025
    Renal tubular acidosis with progressive nerve deafness16Jun 25, 2025
    Retinitis pigmentosa 2015Jun 25, 2025
    Retinitis pigmentosa 2553Jun 25, 2025
    Retinitis pigmentosa 263Jun 25, 2025
    Retinitis pigmentosa 287Jun 25, 2025
    Retinitis pigmentosa 3732Jun 25, 2025
    Retinitis pigmentosa 39487Jun 25, 2025
    Retinitis pigmentosa 767Jun 25, 2025
    Rhizomelic chondrodysplasia punctata type 142Jun 25, 2025
    Salla disease46Jun 25, 2025
    Sandhoff disease60Jun 25, 2025
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency46Jun 25, 2025
    Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3Jun 25, 2025
    Sjögren-Larsson syndrome55Jun 25, 2025
    Smith-Lemli-Opitz syndrome101Jun 25, 2025
    Spinal muscular atrophy, type II1Jun 25, 2025
    Spinal muscular atrophy, type IV1Jun 25, 2025
    Spondylocostal dysostosis 2, autosomal recessive34Jun 25, 2025
    Spongy degeneration of central nervous system51Jun 25, 2025
    Tay-Sachs disease142Jun 25, 2025
    Thrombophilia due to thrombin defect1Jun 25, 2025
    Tyrosinemia type I52Jun 25, 2025
    Tyrosinemia type II22Jun 25, 2025
    UDPglucose-4-epimerase deficiency1Jun 25, 2025
    Usher syndrome type 1234Jun 25, 2025
    Usher syndrome type 1C107Jun 25, 2025
    Usher syndrome type 1F272Jun 25, 2025
    Usher syndrome type 2A461Jun 25, 2025
    Usher syndrome type 34Mar 11, 2015
    Usher syndrome type 3A28Jun 25, 2025
    VPS13A-related neurodegenerative disease5Jun 25, 2025
    Very long chain acyl-CoA dehydrogenase deficiency183Jun 25, 2025
    Von Hippel-Lindau syndrome42Jun 25, 2025
    Werdnig-Hoffmann disease1Jun 25, 2025
    Wilson disease266Jun 25, 2025
    X-linked Alport syndrome3Jun 25, 2025
    X-linked severe combined immunodeficiency1Jun 25, 2025
    Xeroderma pigmentosum group A60Jun 25, 2025
    Xeroderma pigmentosum, group C86Jun 25, 2025
    alpha Thalassemia3Jun 25, 2025
    beta Thalassemia13Mar 11, 2015