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Clinical Genetics Laboratory (University Hospital Schleswig-Holstein)

General information

Clinical Genetics Laboratory
University Hospital Schleswig-Holstein
Ratzeburger Allee 160
Luebeck
Schleswig-Holstein
Germany - 23562
https://www.uksh.de/humangenetik/
Organization ID: 508136

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 455

    Gene

    GeneSubmissionsLast Updated
    AARS11Oct 6, 2022
    ABCA21Oct 6, 2022
    ABCA42Dec 3, 2021
    ABCA71Oct 6, 2022
    ABCD11Oct 6, 2022
    ACADSB1Mar 14, 2024
    ACBD61Oct 6, 2022
    ACSL41Nov 21, 2023
    ACTA11Oct 6, 2022
    ACTB1Jun 17, 2021
    ACTL6B1Oct 6, 2022
    ADNP1Nov 4, 2021
    AFG2A2Jul 5, 2021
    AFG3L22Dec 3, 2021
    AHDC11Mar 14, 2024
    AKT11Jun 17, 2021
    ALDH18A11Oct 6, 2022
    ALDH5A11Nov 4, 2021
    ALMS12Jul 5, 2021
    AMMECR11Mar 14, 2024
    ANKRD112Oct 6, 2022
    ANKRD172Oct 6, 2022
    ANO101Jun 17, 2021
    ANO51Nov 4, 2021
    AP1G11Mar 14, 2024
    APC1Nov 4, 2021
    APOB1Nov 4, 2021
    AR1Mar 14, 2024
    ARID1A1Oct 6, 2022
    ARID1B2Mar 14, 2024
    ARID21Oct 6, 2022
    ARSA1Oct 6, 2022
    ASH1L1Dec 3, 2021
    ASXL11Jun 17, 2021
    ASXL31Nov 4, 2021
    ATP1A11Jun 17, 2021
    ATP1A31Jun 17, 2021
    ATRX3Mar 14, 2024
    B3GLCT1Oct 6, 2022
    BAZ1B1Dec 3, 2021
    BLM1Oct 6, 2022
    BPTF3Oct 6, 2022
    BRCA21Oct 6, 2022
    BRIP11Nov 21, 2023
    BRPF11Oct 6, 2022
    CACNA1A4Mar 14, 2024
    CACNA1C1Nov 4, 2021
    CACNA1C-AS11Nov 4, 2021
    CACNA1D1Oct 6, 2022
    CACNG21Nov 21, 2023
    CACNG2-DT1Nov 4, 2021
    CADM31Oct 6, 2022
    CADM3-AS11Oct 6, 2022
    CAMK2G1Oct 6, 2022
    CAMTA11Oct 6, 2022
    CAPN31Nov 4, 2021
    CASR1Nov 4, 2021
    CBL1Jun 17, 2021
    CBS2Dec 3, 2021
    CCDC88C1Oct 6, 2022
    CCDST1Jun 17, 2021
    CERT11Oct 6, 2022
    CHD11Oct 6, 2022
    CHD35Mar 14, 2024
    CHD72Oct 6, 2022
    CHD81Mar 14, 2024
    CHEK22Dec 3, 2021
    CHM1Nov 21, 2023
    CHRNA11Nov 21, 2023
    CIC2Nov 4, 2021
    CLCN11Mar 14, 2024
    CLCN21Nov 4, 2021
    CLTC2Mar 14, 2024
    CNOT11Nov 4, 2021
    CNOT31Mar 14, 2024
    COG41Dec 3, 2021
    COL12A12Mar 14, 2024
    COL1A11Mar 14, 2024
    COL1A21Oct 6, 2022
    COL2A13Mar 14, 2024
    COL4A11Nov 4, 2021
    COL5A21Mar 14, 2024
    COL6A22Mar 14, 2024
    CRB14Oct 6, 2022
    CREBBP1Oct 6, 2022
    CSNK2A11Nov 4, 2021
    CTNNA31Oct 6, 2022
    CTNNB11Jun 17, 2021
    CUX11Dec 1, 2022
    DDX3X1Nov 4, 2021
    DEPDC51Mar 14, 2024
    DHX161Nov 21, 2023
    DNAAF51Mar 14, 2024
    DNMT3A1Nov 4, 2021
    DSC21Nov 4, 2021
    DSP1Oct 6, 2022
    DUOX22Jul 5, 2021
    DYNC1H12Oct 6, 2022
    DYRK1A1Nov 21, 2023
    EBF31Oct 6, 2022
    EIF3F1Dec 3, 2021
    EP3003Oct 6, 2022
    ERGIC31Nov 21, 2023
    ERLIN21Oct 6, 2022
    ETV61Dec 3, 2021
    EXOSC31Oct 6, 2022
    EXT11Jun 17, 2021
    F51Oct 6, 2022
    FBN12Mar 14, 2024
    FBN21Mar 14, 2024
    FBXO111Oct 6, 2022
    FBXO71Nov 21, 2023
    FBXW112Oct 6, 2022
    FGFR11Nov 4, 2021
    FGFR21Oct 6, 2022
    FLG1Jun 17, 2021
    FLNA1Nov 21, 2023
    FLNB1Nov 4, 2021
    FLNC2Mar 14, 2024
    FOXE31Oct 6, 2022
    FOXP22Oct 6, 2022
    FRMD71Oct 6, 2022
    FRMPD41Dec 3, 2021
    G6PD1Jun 17, 2021
    GABRA51Mar 14, 2024
    GARS11Nov 4, 2021
    GATAD2B1Oct 6, 2022
    GBA11Nov 4, 2021
    GDAP14Oct 6, 2022
    GDF51Nov 4, 2021
    GDF5-AS11Nov 4, 2021
    GJB21Nov 4, 2021
    GJC21Jun 17, 2021
    GLDN2Jul 5, 2021
    GNB11Mar 14, 2024
    GRIA21Nov 4, 2021
    GRIN12Oct 6, 2022
    GRIN2A2Nov 21, 2023
    GRIN2B1Mar 14, 2024
    GUCA1A1Oct 6, 2022
    GUCA1ANB-GUCA1A1Oct 6, 2022
    H1-41Nov 4, 2021
    HCCS1Oct 6, 2022
    HCN11Nov 4, 2021
    HFE1Nov 4, 2021
    HMCN11Mar 14, 2024
    HMGB12Jan 4, 2023
    HNMT1Nov 4, 2021
    HNRNPH11Mar 14, 2024
    HOXA21Nov 4, 2021
    HOXB131Nov 4, 2021
    IFT271Nov 4, 2021
    IGF1R1Mar 14, 2024
    IQSEC21Oct 6, 2022
    JAG12Nov 4, 2021
    JUP1Mar 14, 2024
    KANSL11Mar 14, 2024
    KAT6A1Oct 6, 2022
    KCNB12Jun 17, 2021
    KCNC31Nov 4, 2021
    KCNH21Oct 6, 2022
    KCNQ23Oct 6, 2022
    KCNQ31Nov 4, 2021
    KCNT21Oct 6, 2022
    KDM3B1Mar 14, 2024
    KDM5A1Jan 25, 2024
    KDM5C2Nov 4, 2021
    KDM6A1Dec 3, 2021
    KDR1Oct 6, 2022
    KIF1A1Nov 4, 2021
    KIF5A1Nov 4, 2021
    KITLG1Oct 6, 2022
    KMT2A1Oct 6, 2022
    KMT2B2Mar 14, 2024
    KMT2C1Nov 21, 2023
    KMT2E1Oct 6, 2022
    KMT5B2Oct 6, 2022
    LAMP22Mar 14, 2024
    LHX41Oct 6, 2022
    LHX4-AS11Oct 6, 2022
    LINC013891Oct 6, 2022
    LOC1027240581Nov 4, 2021
    LOC1066279811Nov 4, 2021
    LOC1268073231Mar 14, 2024
    LOC1268609752Mar 14, 2024
    LOC1268618961Nov 4, 2021
    LOC1268627571Mar 14, 2024
    LOC1268631391Nov 4, 2021
    LOC1278142971Oct 6, 2022
    LOC1289666231Mar 14, 2024
    LOC1300036301Mar 14, 2024
    LZTR11Oct 6, 2022
    MAFB1Oct 6, 2022
    MAGT11Mar 14, 2024
    MAP2K11Dec 3, 2021
    MAP2K21Jun 17, 2021
    MBD51Oct 6, 2022
    MEA11Jun 17, 2021
    MECP22Mar 14, 2024
    MED12L1Nov 4, 2021
    MED132Oct 6, 2022
    MED13L2Mar 14, 2024
    MEFV1Nov 4, 2021
    MERTK1Mar 14, 2024
    MFN22Oct 6, 2022
    MILR11Oct 6, 2022
    MME2Oct 6, 2022
    MSH61Oct 6, 2022
    MSTO11Oct 6, 2022
    MSX11Nov 4, 2021
    MT-ND41Nov 4, 2021
    MTAP1Nov 4, 2021
    MTMR141Nov 21, 2023
    MVP-DT3Oct 6, 2022
    MYBPC32Oct 6, 2022
    MYH61Nov 4, 2021
    MYH74Oct 6, 2022
    MYRF1Oct 6, 2022
    MYT1L1Oct 6, 2022
    NAA152Oct 6, 2022
    NALCN1Nov 4, 2021
    NARS11Nov 4, 2021
    NBEA3Mar 14, 2024
    NEFL1Nov 4, 2021
    NF11Oct 6, 2022
    NFIB1Oct 6, 2022
    NFIX4Oct 6, 2022
    NIPBL3Mar 14, 2024
    NLGN11Mar 14, 2024
    NLGN31Dec 1, 2022
    NLRP121Nov 4, 2021
    NOTCH32Oct 6, 2022
    NOVA21Mar 14, 2024
    NPC21Jun 17, 2021
    NR1D11Nov 4, 2021
    NR2E31Oct 6, 2022
    NR5A11Oct 6, 2022
    NSD11Oct 6, 2022
    OBI1-AS11Mar 14, 2024
    OPA12Oct 6, 2022
    OTOGL1Mar 14, 2024
    OTUD51Jun 17, 2021
    PAK12Oct 6, 2022
    PALB22Oct 6, 2022
    PARK71Nov 4, 2021
    PAX61Oct 6, 2022
    PHF21A1Nov 4, 2021
    PHIP1Oct 6, 2022
    PHKA21Nov 4, 2021
    PIGG1Mar 14, 2024
    PIK3CA2Oct 6, 2022
    PKD11Nov 21, 2023
    PLCB41Nov 4, 2021
    POGZ1Jun 17, 2021
    POLG21Oct 6, 2022
    POU4F11Mar 14, 2024
    POU4F31Oct 6, 2022
    PPOX1Nov 21, 2023
    PPP1R12A1Jun 17, 2021
    PPP2R5D1Jun 17, 2021
    PROP11Oct 6, 2022
    PRPH21Dec 3, 2021
    PRPS11Oct 6, 2022
    PRR122Mar 14, 2024
    PRRT23Oct 6, 2022
    PSAP1Jun 17, 2021
    PTCH12Oct 6, 2022
    PTEN1Jun 17, 2021
    PTPN113Nov 21, 2023
    PUF601Oct 6, 2022
    PUS71Nov 4, 2021
    RAB3GAP11Oct 6, 2022
    RAC11Jun 17, 2021
    RAF11Nov 21, 2023
    RANBP21Mar 14, 2024
    RBM201Mar 14, 2024
    REEP11Oct 6, 2022
    RET1Mar 14, 2024
    RNF21Mar 14, 2024
    RNF2131Oct 6, 2022
    RNF213-AS11Oct 6, 2022
    RP1L11Nov 4, 2021
    RPGR2Oct 6, 2022
    RPS6KA32Jun 17, 2021
    RYR12Oct 6, 2022
    RYR22Oct 6, 2022
    SATB21Oct 6, 2022
    SCN1A2Oct 6, 2022
    SCN1A-AS11Oct 6, 2022
    SCN1B2Oct 6, 2022
    SCN2A3Mar 14, 2024
    SCN3A2Oct 6, 2022
    SCN5A1Dec 3, 2021
    SCN8A4Mar 14, 2024
    SCN9A1Oct 6, 2022
    SDHA1Oct 6, 2022
    SEC23B1Nov 4, 2021
    SET1Mar 14, 2024
    SETBP11Oct 6, 2022
    SETD22Oct 6, 2022
    SETX1Oct 6, 2022
    SF3B41Oct 6, 2022
    SHANK21Jun 17, 2021
    SHANK31Oct 6, 2022
    SIN3A2Nov 4, 2021
    SLC12A51Nov 21, 2023
    SLC45A21Nov 21, 2023
    SLC6A11Oct 6, 2022
    SMAD61Jun 17, 2021
    SMARCA21Nov 4, 2021
    SMARCC21Oct 6, 2022
    SMC31Nov 4, 2021
    SORD1Oct 6, 2022
    SOS11Oct 6, 2022
    SOX111Nov 21, 2023
    SOX51Oct 6, 2022
    SOX61Oct 6, 2022
    SPAST1Jun 17, 2021
    SPTB1Oct 6, 2022
    SPTBN12Mar 14, 2024
    SRPX21Oct 6, 2022
    STAT5B1Oct 6, 2022
    STING11Oct 6, 2022
    STX1B1Mar 14, 2024
    SYNE12Mar 14, 2024
    SYNE22Oct 6, 2022
    SYNGAP11Jun 17, 2021
    SYNGAP1-AS11Jun 17, 2021
    TBCEL-TECTA1Oct 6, 2022
    TBR13Mar 14, 2024
    TBX221Nov 4, 2021
    TBX52Jul 5, 2021
    TCF201Dec 3, 2021
    TCF42Mar 14, 2024
    TECTA1Oct 6, 2022
    TEK1Oct 6, 2022
    TENM41Nov 4, 2021
    TET32Oct 6, 2022
    TFAP2B2Mar 14, 2024
    TFG1Dec 3, 2021
    TGFBR11Jun 17, 2021
    THRA1Nov 4, 2021
    TMEM431Nov 21, 2023
    TNRC6B1Oct 6, 2022
    TPO1Oct 6, 2022
    TRAPPC121Oct 6, 2022
    TRIO1Mar 14, 2024
    TRIP121Oct 6, 2022
    TRPM11Oct 6, 2022
    TRRAP3Oct 6, 2022
    TSHZ11Oct 6, 2022
    TTN4Mar 14, 2024
    TTN-AS12Mar 14, 2024
    TTR1Jun 17, 2021
    TUBA1A1Jun 17, 2021
    TUBB2A1Nov 4, 2021
    TUBB32Oct 6, 2022
    UBE3B1Oct 6, 2022
    UGT1A1Mar 14, 2024
    UGT1A11Mar 14, 2024
    UGT1A101Mar 14, 2024
    UGT1A31Mar 14, 2024
    UGT1A41Mar 14, 2024
    UGT1A51Mar 14, 2024
    UGT1A61Mar 14, 2024
    UGT1A71Mar 14, 2024
    UGT1A81Mar 14, 2024
    UGT1A91Mar 14, 2024
    USH2A1Nov 4, 2021
    USP9X2Oct 6, 2022
    VWA11Mar 14, 2024
    WAC1Oct 6, 2022
    WFS12Oct 6, 2022
    WNT10A1Nov 4, 2021
    YY11Oct 6, 2022
    ZBTB181Nov 4, 2021
    ZEB11Mar 14, 2024
    ZEB1-AS11Mar 14, 2024
    ZEB21Oct 6, 2022
    ZMIZ12Mar 14, 2024

    Condition

    NameSubmissionsLast Updated
    46,XY sex reversal 31Oct 6, 2022
    8q24.3 microdeletion syndrome1Oct 6, 2022
    ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Nov 4, 2021
    AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Mar 14, 2024
    Actin accumulation myopathy1Oct 6, 2022
    Acute myeloid leukemia1Nov 4, 2021
    Adrenoleukodystrophy1Oct 6, 2022
    Age related macular degeneration 11Mar 14, 2024
    Age related macular degeneration 22Dec 3, 2021
    Alagille syndrome due to a JAG1 point mutation2Nov 4, 2021
    Aldosterone-producing adenoma with seizures and neurological abnormalities1Oct 6, 2022
    Alpha thalassemia-X-linked intellectual disability syndrome1Nov 4, 2021
    Alstrom syndrome2Jul 5, 2021
    Alzheimer disease 91Oct 6, 2022
    Aniridia 11Oct 6, 2022
    Arrhythmogenic right ventricular dysplasia 111Nov 4, 2021
    Arrhythmogenic right ventricular dysplasia 121Mar 14, 2024
    Arrhythmogenic right ventricular dysplasia 131Oct 6, 2022
    Arthrogryposis multiplex congenita 3, myogenic type1Mar 14, 2024
    Ataxia, intention tremor, and hypotonia syndrome, childhood-onset1Mar 14, 2024
    Atrial fibrillation, familial, 131Nov 4, 2021
    Atrial septal defect 31Nov 4, 2021
    Auditory neuropathy, autosomal dominant 31Nov 21, 2023
    Aural atresia, congenital1Oct 6, 2022
    Auriculocondylar syndrome 21Nov 4, 2021
    Autism, susceptibility to, 171Jun 17, 2021
    Autism, susceptibility to, 201Mar 14, 2024
    Autism, susceptibility to, 53Mar 14, 2024
    Autism, susceptibility to, X-linked 11Dec 1, 2022
    Autosomal dominant centronuclear myopathy1Nov 21, 2023
    Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Nov 4, 2021
    Autosomal dominant hypocalcemia 11Nov 4, 2021
    Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Oct 6, 2022
    Autosomal dominant nonsyndromic hearing loss 121Oct 6, 2022
    Autosomal dominant nonsyndromic hearing loss 151Oct 6, 2022
    Autosomal dominant nonsyndromic hearing loss 3A1Nov 4, 2021
    Autosomal dominant optic atrophy classic form2Oct 6, 2022
    Autosomal recessive ataxia, Beauce type2Mar 14, 2024
    Autosomal recessive early-onset Parkinson disease 71Nov 4, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2A1Nov 4, 2021
    Autosomal recessive limb-girdle muscular dystrophy type 2L1Nov 4, 2021
    Autosomal recessive nonsyndromic hearing loss 84B1Mar 14, 2024
    Autosomal recessive osteopetrosis 81Mar 14, 2024
    Autosomal recessive spinocerebellar ataxia 101Jun 17, 2021
    Baraitser-Winter syndrome 11Jun 17, 2021
    Bardet-Biedl syndrome 191Nov 4, 2021
    Beck-Fahrner syndrome2Oct 6, 2022
    Bethlem myopathy 1A1Mar 14, 2024
    Bethlem myopathy 22Mar 14, 2024
    Bilateral microtia-deafness-cleft palate syndrome1Nov 4, 2021
    Bloom syndrome1Oct 6, 2022
    Bohring-Opitz syndrome1Jun 17, 2021
    Bone osteosarcoma1Nov 4, 2021
    Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia2Jan 4, 2023
    Brugada syndrome 11Oct 6, 2022
    CBL-related disorder1Jun 17, 2021
    CHARGE syndrome1Oct 6, 2022
    CLAPO syndrome1Oct 6, 2022
    CLOVES syndrome1Oct 6, 2022
    Capillary infantile hemangioma1Oct 6, 2022
    Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Mar 14, 2024
    Cardiac valvular dysplasia, X-linked1Nov 21, 2023
    Cardiac-urogenital syndrome1Oct 6, 2022
    Cardiofaciocutaneous syndrome 31Dec 3, 2021
    Cardiofaciocutaneous syndrome 41Jun 17, 2021
    Catecholaminergic polymorphic ventricular tachycardia 12Oct 6, 2022
    Central core myopathy1Oct 6, 2022
    Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Oct 6, 2022
    Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Oct 6, 2022
    Char syndrome1Dec 3, 2021
    Charcot-Marie-Tooth disease X-linked recessive 51Oct 6, 2022
    Charcot-Marie-Tooth disease axonal type 2K4Oct 6, 2022
    Charcot-Marie-Tooth disease axonal type 2N1Oct 6, 2022
    Charcot-Marie-Tooth disease axonal type 2O1Oct 6, 2022
    Charcot-Marie-Tooth disease axonal type 2T2Oct 6, 2022
    Charcot-Marie-Tooth disease type 2A21Oct 6, 2022
    Charcot-Marie-Tooth disease type 2E1Nov 4, 2021
    Charcot-Marie-Tooth disease, axonal, type 2FF1Oct 6, 2022
    Charcot-marie-tooth disease, axonal, type 2DD1Jun 17, 2021
    Childhood apraxia of speech2Oct 6, 2022
    Chopra-Amiel-Gordon syndrome2Oct 6, 2022
    Choroidal dystrophy, central areolar 21Dec 3, 2021
    Choroideremia1Nov 21, 2023
    Chromosome 2q32-q33 deletion syndrome1Oct 6, 2022
    Chromosome Xq28 duplication syndrome1Mar 14, 2024
    Clark-Baraitser syndrome1Oct 6, 2022
    Classic homocystinuria2Dec 3, 2021
    Cleft palate with or without ankyloglossia, X-linked1Nov 4, 2021
    Coffin-Lowry syndrome2Jun 17, 2021
    Coffin-Siris syndrome 12Mar 14, 2024
    Coffin-Siris syndrome 61Oct 6, 2022
    Coffin-Siris syndrome 81Oct 6, 2022
    Cognitive impairment with or without cerebellar ataxia3Mar 14, 2024
    Combined PSAP deficiency1Jun 17, 2021
    Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Oct 6, 2022
    Complex cortical dysplasia with other brain malformations 12Oct 6, 2022
    Complex cortical dysplasia with other brain malformations 51Nov 4, 2021
    Cone dystrophy 31Oct 6, 2022
    Congenital contractural arachnodactyly1Mar 14, 2024
    Congenital contractures of the limbs and face, hypotonia, and developmental delay1Nov 4, 2021
    Congenital myasthenic syndrome 1A1Nov 21, 2023
    Congenital myotonia, autosomal dominant form1Mar 14, 2024
    Congenital myotonia, autosomal recessive form1Mar 14, 2024
    Congenital nongoitrous hypothyroidism 61Nov 4, 2021
    Congenital primary aphakia1Oct 6, 2022
    Congenital stationary night blindness 1C1Oct 6, 2022
    Corneal dystrophy, Fuchs endothelial, 61Mar 14, 2024
    Cornelia de Lange syndrome 13Mar 14, 2024
    Cornelia de Lange syndrome 31Nov 4, 2021
    Cowden syndrome 11Jun 17, 2021
    Cowden syndrome 71Nov 4, 2021
    Crigler-Najjar syndrome type 11Mar 14, 2024
    Crigler-Najjar syndrome, type II1Mar 14, 2024
    DYRK1A-related intellectual disability syndrome1Nov 21, 2023
    Danon disease2Mar 14, 2024
    DeSanto-Shinawi syndrome due to WAC point mutation1Oct 6, 2022
    Deficiency of 2-methylbutyryl-CoA dehydrogenase1Mar 14, 2024
    Deficiency of iodide peroxidase1Oct 6, 2022
    Developmental and epileptic encephalopathy 6B1Oct 6, 2022
    Developmental and epileptic encephalopathy, 113Mar 14, 2024
    Developmental and epileptic encephalopathy, 131Mar 14, 2024
    Developmental and epileptic encephalopathy, 262Jun 17, 2021
    Developmental and epileptic encephalopathy, 424Mar 14, 2024
    Developmental and epileptic encephalopathy, 571Oct 6, 2022
    Developmental and epileptic encephalopathy, 622Oct 6, 2022
    Developmental and epileptic encephalopathy, 73Oct 6, 2022
    Developmental and epileptic encephalopathy, 791Mar 14, 2024
    Developmental delay with or without dysmorphic facies and autism3Oct 6, 2022
    Developmental delay with variable intellectual impairment and behavioral abnormalities1Dec 3, 2021
    Developmental delay, impaired speech, and behavioral abnormalities2Mar 14, 2024
    Developmental disorder3Mar 14, 2024
    Diaphyseal medullary stenosis-bone malignancy syndrome1Nov 4, 2021
    Diets-Jongmans syndrome1Mar 14, 2024
    Dilated cardiomyopathy 1DD1Mar 14, 2024
    Dilated cardiomyopathy 1G3Mar 14, 2024
    Dilated cardiomyopathy 1S3Oct 6, 2022
    Distal myopathy with posterior leg and anterior hand involvement1Mar 14, 2024
    Dystonia 121Jun 17, 2021
    Dystonia 28, childhood-onset2Mar 14, 2024
    Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Oct 6, 2022
    Ehlers-Danlos syndrome, classic type, 21Mar 14, 2024
    Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Mar 14, 2024
    Emery-Dreifuss muscular dystrophy 5, autosomal dominant2Oct 6, 2022
    Epilepsy, familial focal, with variable foci 11Mar 14, 2024
    Epilepsy, idiopathic generalized, susceptibility to, 111Nov 4, 2021
    Epilepsy, idiopathic generalized, susceptibility to, 141Nov 21, 2023
    Episodic ataxia type 21Mar 14, 2024
    Episodic kinesigenic dyskinesia 11Oct 6, 2022
    Familial Mediterranean fever, autosomal dominant1Nov 4, 2021
    Familial acute necrotizing encephalopathy1Mar 14, 2024
    Familial adenomatous polyposis 11Nov 4, 2021
    Familial amyloid neuropathy1Jun 17, 2021
    Familial cancer of breast4Nov 21, 2023
    Familial cold autoinflammatory syndrome 21Nov 4, 2021
    Gabriele de Vries syndrome1Oct 6, 2022
    Generalized epilepsy with febrile seizures plus, type 101Nov 4, 2021
    Generalized epilepsy with febrile seizures plus, type 21Nov 4, 2021
    Generalized epilepsy with febrile seizures plus, type 91Mar 14, 2024
    Genitourinary and/or brain malformation syndrome1Jun 17, 2021
    Gilbert syndrome1Mar 14, 2024
    Global developmental delay with or without impaired intellectual development1Dec 1, 2022
    Global developmental delay with speech and behavioral abnormalities1Oct 6, 2022
    Glycogen storage disease IXa11Nov 4, 2021
    Gorlin syndrome2Oct 6, 2022
    Growth delay due to insulin-like growth factor I resistance1Mar 14, 2024
    Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1Oct 6, 2022
    Hemochromatosis type 11Nov 4, 2021
    Hereditary spastic paraplegia 101Nov 4, 2021
    Hereditary spastic paraplegia 181Oct 6, 2022
    Hereditary spastic paraplegia 41Jun 17, 2021
    Hereditary spastic paraplegia 571Dec 3, 2021
    Hereditary spastic paraplegia 9A1Oct 6, 2022
    Hereditary spherocytosis type 21Oct 6, 2022
    Hogue-Janssens syndrome 11Jun 17, 2021
    Holoprosencephaly 12 with or without pancreatic agenesis1Nov 4, 2021
    Holt-Oram syndrome2Jul 5, 2021
    Hypercholesterolemia, autosomal dominant, type B1Nov 4, 2021
    Hyperpigmentation with or without hypopigmentation, familial progressive1Oct 6, 2022
    Hypertrophic cardiomyopathy 261Nov 4, 2021
    Hypertrophic cardiomyopathy 41Oct 6, 2022
    Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 6, 2022
    Hypotonia, ataxia, and delayed development syndrome1Oct 6, 2022
    Ichthyosis vulgaris1Jun 17, 2021
    Infantile convulsions and choreoathetosis1Dec 3, 2021
    Intellectual developmental disorder 591Oct 6, 2022
    Intellectual developmental disorder 612Oct 6, 2022
    Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Nov 4, 2021
    Intellectual developmental disorder with autism and macrocephaly1Mar 14, 2024
    Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Nov 4, 2021
    Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Oct 6, 2022
    Intellectual developmental disorder with dysmorphic facies and ptosis1Oct 6, 2022
    Intellectual developmental disorder with macrocephaly, seizures, and speech delay2Oct 6, 2022
    Intellectual developmental disorder with poor growth and with or without seizures or ataxia1Oct 6, 2022
    Intellectual developmental disorder with severe speech and ambulation defects1Oct 6, 2022
    Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Mar 14, 2024
    Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Mar 14, 2024
    Intellectual developmental disorder, autosomal recessive 671Dec 3, 2021
    Intellectual disability, X-linked 11Oct 6, 2022
    Intellectual disability, X-linked 1021Nov 4, 2021
    Intellectual disability, X-linked 1041Dec 3, 2021
    Intellectual disability, X-linked 631Nov 21, 2023
    Intellectual disability, X-linked 99, syndromic, female-restricted2Oct 6, 2022
    Intellectual disability, autosomal dominant 11Oct 6, 2022
    Intellectual disability, autosomal dominant 101Nov 21, 2023
    Intellectual disability, autosomal dominant 131Nov 4, 2021
    Intellectual disability, autosomal dominant 141Oct 6, 2022
    Intellectual disability, autosomal dominant 221Nov 4, 2021
    Intellectual disability, autosomal dominant 271Nov 21, 2023
    Intellectual disability, autosomal dominant 291Oct 6, 2022
    Intellectual disability, autosomal dominant 341Oct 6, 2022
    Intellectual disability, autosomal dominant 391Oct 6, 2022
    Intellectual disability, autosomal dominant 421Mar 14, 2024
    Intellectual disability, autosomal dominant 452Nov 4, 2021
    Intellectual disability, autosomal dominant 481Jun 17, 2021
    Intellectual disability, autosomal dominant 51Jun 17, 2021
    Intellectual disability, autosomal dominant 502Oct 6, 2022
    Intellectual disability, autosomal dominant 512Oct 6, 2022
    Intellectual disability, autosomal dominant 521Dec 3, 2021
    Intellectual disability, autosomal dominant 562Mar 14, 2024
    Intellectual disability, autosomal dominant 581Mar 14, 2024
    Intellectual disability, autosomal dominant 61Mar 14, 2024
    Intellectual disability, autosomal dominant 82Oct 6, 2022
    Intellectual disability, autosomal dominant 91Nov 4, 2021
    Intellectual disability, autosomal recessive 511Nov 4, 2021
    Intellectual disability, autosomal recessive 531Mar 14, 2024
    Intellectual disability-hypotonic facies syndrome, X-linked, 12Mar 14, 2024
    Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Jun 17, 2021
    KBG syndrome2Oct 6, 2022
    KDM5A-associated neurodevelopmental syndrome1Jan 25, 2024
    Kabuki syndrome 21Dec 3, 2021
    Keratosis palmoplantaris striata 21Oct 6, 2022
    Kleefstra syndrome 21Nov 21, 2023
    Koolen-de Vries syndrome1Mar 14, 2024
    LEOPARD syndrome 11Jun 17, 2021
    Lamb-Shaffer syndrome1Oct 6, 2022
    Landau-Kleffner syndrome2Nov 21, 2023
    Larsen syndrome1Nov 4, 2021
    Lateral meningocele syndrome1Nov 4, 2021
    Leber congenital amaurosis 82Oct 6, 2022
    Leber optic atrophy1Nov 4, 2021
    Left ventricular noncompaction 101Oct 6, 2022
    Lethal congenital contracture syndrome 112Jul 5, 2021
    Levy-Hollister syndrome1Oct 6, 2022
    Linear skin defects with multiple congenital anomalies 11Oct 6, 2022
    Lissencephaly due to TUBA1A mutation1Jun 17, 2021
    Loeys-Dietz syndrome 11Jun 17, 2021
    Long QT syndrome 21Oct 6, 2022
    Long QT syndrome 31Dec 3, 2021
    Lucey-Driscoll syndrome1Mar 14, 2024
    Luo-Schoch-Yamamoto syndrome1Mar 14, 2024
    Luscan-Lumish syndrome2Oct 6, 2022
    Lymphatic malformation 31Jun 17, 2021
    MYH7-related skeletal myopathy1Oct 6, 2022
    Macrocephaly, acquired, with impaired intellectual development1Oct 6, 2022
    Malan overgrowth syndrome3Oct 6, 2022
    Malaria, susceptibility to1Jun 17, 2021
    Malignant hyperthermia, susceptibility to, 11Oct 6, 2022
    Malignant tumor of prostate1Dec 3, 2021
    Marfan syndrome2Mar 14, 2024
    Marshall-Smith syndrome1Nov 4, 2021
    Martsolf syndrome 21Oct 6, 2022
    Menke-Hennekam syndrome 11Oct 6, 2022
    Metachromatic leukodystrophy1Oct 6, 2022
    Microcephalic osteodysplastic dysplasia, Saul-Wilson type1Dec 3, 2021
    Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Jul 5, 2021
    Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Mar 14, 2024
    Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1Mar 14, 2024
    Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1Oct 6, 2022
    Mowat-Wilson syndrome1Oct 6, 2022
    Moyamoya disease 21Oct 6, 2022
    Multicentric carpo-tarsal osteolysis with or without nephropathy1Oct 6, 2022
    Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1Jun 17, 2021
    Multiple congenital exostosis1Jun 17, 2021
    Multiple cutaneous and mucosal venous malformations1Oct 6, 2022
    Multiple endocrine neoplasia type 2B1Mar 14, 2024
    Myoclonic-astatic epilepsy1Oct 6, 2022
    Myofibrillar myopathy 51Mar 14, 2024
    Nager syndrome1Oct 6, 2022
    Neurodegeneration with ataxia and late-onset optic atrophy1Oct 6, 2022
    Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects1Mar 14, 2024
    Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies3Oct 6, 2022
    Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2Mar 14, 2024
    Neurodevelopmental disorder with language impairment and behavioral abnormalities1Nov 4, 2021
    Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Nov 4, 2021
    Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities1Mar 14, 2024
    Neurodevelopmental disorder with or without early-onset generalized epilepsy3Mar 14, 2024
    Neurodevelopmental, jaw, eye, and digital syndrome2Oct 6, 2022
    Neurofibromatosis, type 11Oct 6, 2022
    Neuromuscular disease and ocular or auditory anomalies with or without seizures1Nov 21, 2023
    Neuronopathy, distal hereditary motor, autosomal recessive 71Mar 14, 2024
    Neuronopathy, distal hereditary motor, autosomal recessive 81Oct 6, 2022
    Neuronopathy, distal hereditary motor, type 5A1Nov 4, 2021
    Neuronopathy, distal hereditary motor, type 5B1Oct 6, 2022
    Neuroocular syndrome2Mar 14, 2024
    Neuropathy, hereditary motor and sensory, type 6A1Oct 6, 2022
    Nicolaides-Baraitser syndrome1Nov 4, 2021
    Niemann-Pick disease, type C11Jun 17, 2021
    Nizon-Isidor syndrome1Nov 4, 2021
    Noonan syndrome 12Nov 21, 2023
    Noonan syndrome 101Oct 6, 2022
    Noonan syndrome 41Oct 6, 2022
    Noonan syndrome 51Nov 21, 2023
    Nystagmus 1, congenital, X-linked1Oct 6, 2022
    O'Donnell-Luria-Rodan syndrome1Oct 6, 2022
    Occult macular dystrophy1Nov 4, 2021
    Oculocerebrofacial syndrome, Kaufman type1Oct 6, 2022
    Oculocutaneous albinism type 41Nov 21, 2023
    Okur-Chung neurodevelopmental syndrome1Nov 4, 2021
    Orofacial cleft 51Nov 4, 2021
    Osteogenesis imperfecta type I1Mar 14, 2024
    Osteogenesis imperfecta type III1Mar 14, 2024
    Osteogenesis imperfecta with normal sclerae, dominant form1Mar 14, 2024
    Osteogenesis imperfecta, perinatal lethal1Mar 14, 2024
    PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Oct 6, 2022
    Pancreatic cancer, susceptibility to, 31Dec 3, 2021
    Parkinson disease, late-onset1Nov 4, 2021
    Parkinsonian-pyramidal syndrome1Nov 21, 2023
    Partial androgen insensitivity syndrome1Mar 14, 2024
    Patent ductus arteriosus 21Mar 14, 2024
    Peters plus syndrome1Oct 6, 2022
    Pfeiffer syndrome1Nov 4, 2021
    Phelan-McDermid syndrome1Oct 6, 2022
    Pigmented paravenous retinochoroidal atrophy1Nov 4, 2021
    Pilarowski-Bjornsson syndrome1Oct 6, 2022
    Pitt-Hopkins syndrome2Mar 14, 2024
    Pituitary hormone deficiency, combined, 21Oct 6, 2022
    Polycystic kidney disease, adult type1Nov 21, 2023
    Pontocerebellar hypoplasia type 1B1Oct 6, 2022
    Posterior polymorphous corneal dystrophy 31Mar 14, 2024
    Primary ciliary dyskinesia 181Mar 14, 2024
    Primary erythromelalgia1Oct 6, 2022
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41Oct 6, 2022
    Prostate cancer, hereditary, 91Nov 4, 2021
    Radioulnar synostosis1Jun 17, 2021
    Rahman syndrome1Nov 4, 2021
    Retinitis pigmentosa 121Oct 6, 2022
    Retinitis pigmentosa 31Nov 4, 2021
    Retinitis pigmentosa 371Oct 6, 2022
    Retinitis pigmentosa 381Mar 14, 2024
    Rett syndrome2Mar 14, 2024
    Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1Oct 6, 2022
    Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Oct 6, 2022
    SIN3A-related intellectual disability syndrome due to a point mutation2Nov 4, 2021
    STING-associated vasculopathy with onset in infancy1Oct 6, 2022
    Seizures, benign familial infantile, 21Nov 4, 2021
    Seizures, benign familial neonatal, 21Nov 4, 2021
    Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Nov 4, 2021
    Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Oct 6, 2022
    Severe intellectual disability-progressive spastic diplegia syndrome1Jun 17, 2021
    Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Oct 6, 2022
    Snijders Blok-Campeau syndrome5Mar 14, 2024
    Sotos syndrome1Oct 6, 2022
    Spinocerebellar ataxia type 131Nov 4, 2021
    Spinocerebellar ataxia type 282Dec 3, 2021
    Spinocerebellar ataxia type 401Oct 6, 2022
    Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Oct 6, 2022
    Spondyloperipheral dysplasia1Nov 4, 2021
    Stickler syndrome type 11Oct 6, 2022
    Stickler syndrome, type I, nonsyndromic ocular1Mar 14, 2024
    Succinate-semialdehyde dehydrogenase deficiency1Nov 4, 2021
    Symphalangism, proximal, 1B1Nov 4, 2021
    Syndromic X-linked intellectual disability Claes-Jensen type2Nov 4, 2021
    Thrombocytopenia 51Dec 3, 2021
    Thrombophilia due to activated protein C resistance1Oct 6, 2022
    Thyroid dyshormonogenesis 62Jul 5, 2021
    Tibial muscular dystrophy1Dec 3, 2021
    Timothy syndrome1Nov 4, 2021
    Tolchin-Le Caignec syndrome1Oct 6, 2022
    Tooth agenesis, selective, 41Nov 4, 2021
    Tremor, hereditary essential, 51Nov 4, 2021
    Ullrich congenital muscular dystrophy 1A1Nov 21, 2023
    Usher syndrome type 2A1Nov 4, 2021
    Usmani-Riazuddin syndrome, autosomal dominant1Mar 14, 2024
    Variegate porphyria1Nov 21, 2023
    Wiedemann-Steiner syndrome1Oct 6, 2022
    Williams syndrome1Dec 3, 2021
    Wolfram syndrome 11Jun 17, 2021
    Wolfram-like syndrome1Oct 6, 2022
    X-linked cone-rod dystrophy 11Oct 6, 2022