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: 178

    Gene

    GeneSubmissionsLast Updated
    ABCA42Dec 3, 2021
    ACTB1Jun 17, 2021
    ADNP1Nov 4, 2021
    AFG3L22Dec 3, 2021
    AKT11Jun 17, 2021
    ALDH5A11Nov 4, 2021
    ALMS12Jul 5, 2021
    ANO101Jun 17, 2021
    ANO51Nov 4, 2021
    APC1Nov 4, 2021
    APOB1Nov 4, 2021
    ARID1B1Nov 4, 2021
    ASH1L1Dec 3, 2021
    ASXL11Jun 17, 2021
    ASXL31Nov 4, 2021
    ATP1A11Jun 17, 2021
    ATP1A31Jun 17, 2021
    ATRX1Nov 4, 2021
    BAZ1B1Dec 3, 2021
    BPTF2Nov 4, 2021
    CACNA1A1Dec 3, 2021
    CACNA1C1Nov 4, 2021
    CACNA1C-AS11Nov 4, 2021
    CACNG2-DT1Nov 4, 2021
    CAPN31Nov 4, 2021
    CASR1Nov 4, 2021
    CBL1Jun 17, 2021
    CBS2Dec 3, 2021
    CHD31Nov 4, 2021
    CHEK22Dec 3, 2021
    CIC2Nov 4, 2021
    CLCN21Nov 4, 2021
    CNOT11Nov 4, 2021
    COG41Dec 3, 2021
    COL12A11Nov 4, 2021
    COL2A11Nov 4, 2021
    COL4A11Nov 4, 2021
    CRB12Dec 3, 2021
    CSNK2A11Nov 4, 2021
    CTNNB11Jun 17, 2021
    DDX3X1Nov 4, 2021
    DNMT3A1Nov 4, 2021
    DSC21Nov 4, 2021
    DUOX22Jul 5, 2021
    DYNC1H11Nov 4, 2021
    EIF3F1Dec 3, 2021
    EP3002Dec 3, 2021
    ETV61Dec 3, 2021
    EXT11Jun 17, 2021
    FBXW111Nov 4, 2021
    FGFR11Nov 4, 2021
    FLG1Jun 17, 2021
    FLNB1Nov 4, 2021
    FLNC1Nov 4, 2021
    FRMPD41Dec 3, 2021
    G6PD1Jun 17, 2021
    GARS11Nov 4, 2021
    GBA1Nov 4, 2021
    GDAP12Nov 4, 2021
    GDF51Nov 4, 2021
    GDF5-AS11Nov 4, 2021
    GJB21Nov 4, 2021
    GJC21Jun 17, 2021
    GLDN2Jul 5, 2021
    GRIA21Nov 4, 2021
    GRIN2A1Nov 4, 2021
    H1-41Nov 4, 2021
    HCN11Nov 4, 2021
    HFE1Nov 4, 2021
    HNMT1Nov 4, 2021
    HOXA21Nov 4, 2021
    HOXB131Nov 4, 2021
    IFT271Nov 4, 2021
    JAG12Nov 4, 2021
    KCNB12Jun 17, 2021
    KCNC31Nov 4, 2021
    KCNQ21Dec 3, 2021
    KCNQ31Nov 4, 2021
    KDM5C2Nov 4, 2021
    KDM6A1Dec 3, 2021
    KIF1A1Nov 4, 2021
    KIF5A1Nov 4, 2021
    KMT5B1Dec 3, 2021
    LAMP21Jun 17, 2021
    LOC1027240581Nov 4, 2021
    LOC1066279811Nov 4, 2021
    MAP2K11Dec 3, 2021
    MAP2K21Jun 17, 2021
    MEA11Jun 17, 2021
    MED12L1Nov 4, 2021
    MED13L1Nov 4, 2021
    MEFV1Nov 4, 2021
    MME1Dec 3, 2021
    MSX11Nov 4, 2021
    MT-ND41Nov 4, 2021
    MTAP1Nov 4, 2021
    MYH61Nov 4, 2021
    MYH71Nov 4, 2021
    NALCN1Nov 4, 2021
    NARS11Nov 4, 2021
    NEFL1Nov 4, 2021
    NFIX1Nov 4, 2021
    NIPBL2Nov 4, 2021
    NLGN31Dec 3, 2021
    NLRP121Nov 4, 2021
    NOTCH31Nov 4, 2021
    NPC21Jun 17, 2021
    NR1D11Nov 4, 2021
    OTUD51Jun 17, 2021
    PAK11Jun 17, 2021
    PALB21Dec 3, 2021
    PARK71Nov 4, 2021
    PHF21A1Nov 4, 2021
    PHKA21Nov 4, 2021
    PLCB41Nov 4, 2021
    POGZ1Jun 17, 2021
    PPP1R12A1Jun 17, 2021
    PPP2R5D1Jun 17, 2021
    PRPH21Dec 3, 2021
    PRRT22Dec 3, 2021
    PSAP1Jun 17, 2021
    PTEN1Jun 17, 2021
    PTPN111Jun 17, 2021
    PUS71Nov 4, 2021
    RAC11Jun 17, 2021
    RP1L11Nov 4, 2021
    RPGR1Nov 4, 2021
    RPS6KA32Jun 17, 2021
    SCN1A1Nov 4, 2021
    SCN1B1Nov 4, 2021
    SCN5A1Dec 3, 2021
    SCN8A1Jun 15, 2021
    SEC23B1Nov 4, 2021
    SETD21Jun 17, 2021
    SHANK21Jun 17, 2021
    SIN3A2Nov 4, 2021
    SMAD61Jun 17, 2021
    SMARCA21Nov 4, 2021
    SMC31Nov 4, 2021
    SPAST1Jun 17, 2021
    SPATA52Jul 5, 2021
    SYNE11Jun 17, 2021
    SYNGAP11Jun 17, 2021
    TBR11Nov 4, 2021
    TBX221Nov 4, 2021
    TBX52Jul 5, 2021
    TCF201Dec 3, 2021
    TCF41Jun 17, 2021
    TENM41Nov 4, 2021
    TFAP2B1Dec 3, 2021
    TFG1Dec 3, 2021
    TGFBR11Jun 17, 2021
    THRA1Nov 4, 2021
    TRRAP2Nov 4, 2021
    TTN1Dec 3, 2021
    TTR1Jun 17, 2021
    TUBA1A1Jun 17, 2021
    TUBB2A1Nov 4, 2021
    USH2A1Nov 4, 2021
    USP9X1Oct 26, 2021
    WFS11Jun 17, 2021
    WNT10A1Nov 4, 2021
    ZBTB181Nov 4, 2021

    Condition

    NameSubmissionsLast Updated
    Acute myeloid leukemia1Nov 4, 2021
    Age-related macular degeneration 22Dec 3, 2021
    Alagille syndrome 12Nov 4, 2021
    Alpha thalassemia-X-linked intellectual disability syndrome1Nov 4, 2021
    Alstrom syndrome2Jul 5, 2021
    Amyloidogenic transthyretin amyloidosis1Jun 17, 2021
    Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Nov 4, 2021
    Arrhythmogenic right ventricular cardiomyopathy, type 111Nov 4, 2021
    Atrial fibrillation, familial, 131Nov 4, 2021
    Atrial septal defect 31Nov 4, 2021
    Auriculocondylar syndrome 21Nov 4, 2021
    Autism 171Jun 17, 2021
    Autism 51Nov 4, 2021
    Autism, susceptibility to, X-linked 11Dec 3, 2021
    Bainbridge-Ropers syndrome1Nov 4, 2021
    Baraitser-Winter syndrome 11Jun 17, 2021
    Bardet-Biedl syndrome 191Nov 4, 2021
    Benign familial neonatal seizures 21Nov 4, 2021
    Bethlem myopathy 21Nov 4, 2021
    Bohring-Opitz syndrome1Jun 17, 2021
    Bone osteosarcoma1Nov 4, 2021
    Cardiofaciocutaneous syndrome 31Dec 3, 2021
    Cardiofaciocutaneous syndrome 41Jun 17, 2021
    Cardiomyopathy, familial hypertrophic, 261Nov 4, 2021
    Char syndrome1Dec 3, 2021
    Charcot-Marie-Tooth disease axonal type 2K2Nov 4, 2021
    Charcot-Marie-Tooth disease type 2E1Nov 4, 2021
    Charcot-Marie-Tooth disease, axonal, type 2T1Dec 3, 2021
    Charcot-marie-tooth disease, axonal, type 2DD1Jun 17, 2021
    Choroidal dystrophy, central areolar 21Dec 3, 2021
    Classic homocystinuria2Dec 3, 2021
    Cleft palate with or without ankyloglossia, X-linked1Nov 4, 2021
    Coffin-Lowry syndrome2Jun 17, 2021
    Coffin-Siris syndrome 11Nov 4, 2021
    Cognitive impairment with or without cerebellar ataxia1Jun 15, 2021
    Combined saposin deficiency1Jun 17, 2021
    Congenital contractures of the limbs and face, hypotonia, and developmental delay1Nov 4, 2021
    Cornelia de Lange syndrome 12Nov 4, 2021
    Cornelia de Lange syndrome 31Nov 4, 2021
    Cortical dysplasia, complex, with other brain malformations 51Nov 4, 2021
    Cowden syndrome 11Jun 17, 2021
    Cowden syndrome 71Nov 4, 2021
    Danon disease1Jun 17, 2021
    Deafness, autosomal dominant 3a1Nov 4, 2021
    Developmental and epileptic encephalopathy, 421Dec 3, 2021
    Developmental delay with or without dysmorphic facies and autism2Nov 4, 2021
    Developmental delay with variable intellectual impairment and behavioral abnormalities1Dec 3, 2021
    Diaphyseal medullary stenosis-bone malignancy syndrome1Nov 4, 2021
    Dilated cardiomyopathy 1S1Nov 4, 2021
    Dystonia 121Jun 17, 2021
    Early infantile epileptic encephalopathy 71Dec 3, 2021
    Epilepsy, focal, with speech disorder and with or without mental retardation1Nov 4, 2021
    Epilepsy, hearing loss, and mental retardation syndrome2Jul 5, 2021
    Epilepsy, idiopathic generalized, susceptibility to, 111Nov 4, 2021
    Epileptic encephalopathy, early infantile, 262Jun 17, 2021
    Familial adenomatous polyposis 11Nov 4, 2021
    Familial cancer of breast1Jun 17, 2021
    Familial cold autoinflammatory syndrome 21Nov 4, 2021
    Familial hypercholesterolemia 21Nov 4, 2021
    Familial mediterranean fever, autosomal dominant1Nov 4, 2021
    Generalized epilepsy with febrile seizures plus, type 101Nov 4, 2021
    Generalized epilepsy with febrile seizures plus, type 21Nov 4, 2021
    Genitourinary and/or brain malformation syndrome1Jun 17, 2021
    Glycogen storage disease type IXa11Nov 4, 2021
    HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS1Nov 4, 2021
    Helsmoortel-Van der Aa Syndrome1Nov 4, 2021
    Hemochromatosis type 11Nov 4, 2021
    Hereditary spastic paraplegia 101Nov 4, 2021
    Holt-Oram syndrome2Jul 5, 2021
    Hypocalcemia, autosomal dominant 11Nov 4, 2021
    Hypothyroidism, congenital, nongoitrous, 61Nov 4, 2021
    Ichthyosis vulgaris1Jun 17, 2021
    Infantile convulsions and choreoathetosis1Dec 3, 2021
    Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Nov 4, 2021
    Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Nov 4, 2021
    Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Jun 17, 2021
    Intellectual developmental disorder, autosomal recessive 671Dec 3, 2021
    Intellectual disability, autosomal dominant 452Nov 4, 2021
    Intellectual disability, autosomal dominant 481Jun 17, 2021
    Intellectual disability, autosomal dominant 511Dec 3, 2021
    Intellectual disability, autosomal dominant 521Dec 3, 2021
    Intellectual disability, autosomal dominant 91Nov 4, 2021
    Kabuki syndrome 21Dec 3, 2021
    LEOPARD syndrome 11Jun 17, 2021
    Larsen syndrome1Nov 4, 2021
    Lateral meningocele syndrome1Nov 4, 2021
    Leber congenital amaurosis 81Dec 3, 2021
    Leber optic atrophy1Nov 4, 2021
    Lethal congenital contracture syndrome 112Jul 5, 2021
    Limb-girdle muscular dystrophy, type 2A1Nov 4, 2021
    Limb-girdle muscular dystrophy, type 2L1Nov 4, 2021
    Lissencephaly due to TUBA1A mutation1Jun 17, 2021
    Loeys-Dietz syndrome 11Jun 17, 2021
    Long QT syndrome 31Dec 3, 2021
    Luscan-lumish syndrome1Jun 17, 2021
    Lymphatic malformation 31Jun 17, 2021
    Malignant tumor of prostate1Dec 3, 2021
    Marshall-Smith syndrome1Nov 4, 2021
    Mental retardation and distinctive facial features with or without cardiac defects1Nov 4, 2021
    Mental retardation, X-linked 1021Nov 4, 2021
    Mental retardation, X-linked 1041Dec 3, 2021
    Mental retardation, X-linked 99, syndromic, female-restricted1Oct 26, 2021
    Mental retardation, autosomal dominant 131Nov 4, 2021
    Mental retardation, autosomal dominant 191Jun 17, 2021
    Mental retardation, autosomal dominant 221Nov 4, 2021
    Mental retardation, autosomal dominant 351Jun 17, 2021
    Mental retardation, autosomal dominant 51Jun 17, 2021
    Mental retardation, autosomal recessive 511Nov 4, 2021
    Mental retardation, syndromic, Claes-Jensen type, X-linked2Nov 4, 2021
    Microcephalic osteodysplastic dysplasia, Saul-Wilson type1Dec 3, 2021
    Microtia, hearing impairment, and cleft palate1Nov 4, 2021
    Multiple congenital anomalies-neurodevelopmental syndrome, x-linked1Jun 17, 2021
    Multiple congenital exostosis1Jun 17, 2021
    Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies2Nov 4, 2021
    Neurodevelopmental disorder with language impairment and behavioral abnormalities1Nov 4, 2021
    Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Nov 4, 2021
    Neurodevelopmental, jaw, eye, and digital syndrome1Nov 4, 2021
    Neuronopathy, distal hereditary motor, type 5A1Nov 4, 2021
    Nicolaides-Baraitser syndrome1Nov 4, 2021
    Niemann-Pick disease type C11Jun 17, 2021
    Nizon-Isidor syndrome1Nov 4, 2021
    Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Jun 17, 2021
    Occult macular dystrophy1Nov 4, 2021
    Okur-chung neurodevelopmental syndrome1Nov 4, 2021
    Orofacial cleft 51Nov 4, 2021
    Pancreatic cancer 31Dec 3, 2021
    Parkinson disease 71Nov 4, 2021
    Parkinson disease, late-onset1Nov 4, 2021
    Pfeiffer syndrome1Nov 4, 2021
    Pigmented paravenous chorioretinal atrophy1Nov 4, 2021
    Pitt-Hopkins syndrome1Jun 17, 2021
    Prostate cancer, hereditary, 91Nov 4, 2021
    Radioulnar synostosis1Jun 17, 2021
    Rahman syndrome1Nov 4, 2021
    Retinitis pigmentosa 151Nov 4, 2021
    Rubinstein-Taybi syndrome 22Dec 3, 2021
    Seizures, benign familial infantile, 21Nov 4, 2021
    Snijders Blok-Campeau syndrome1Nov 4, 2021
    Spastic paraplegia 4, autosomal dominant1Jun 17, 2021
    Spastic paraplegia 57, autosomal recessive1Dec 3, 2021
    Spinocerebellar ataxia type 131Nov 4, 2021
    Spinocerebellar ataxia type 282Dec 3, 2021
    Spinocerebellar ataxia, autosomal recessive 101Jun 17, 2021
    Spinocerebellar ataxia, autosomal recessive 81Jun 17, 2021
    Spondyloperipheral dysplasia-short ulna syndrome1Nov 4, 2021
    Succinate-semialdehyde dehydrogenase deficiency1Nov 4, 2021
    Susceptibility to malaria1Jun 17, 2021
    Symphalangism, proximal, 1B1Nov 4, 2021
    Thrombocytopenia 51Dec 3, 2021
    Thyroid dyshormonogenesis 62Jul 5, 2021
    Tibial muscular dystrophy1Dec 3, 2021
    Timothy syndrome1Nov 4, 2021
    Tooth agenesis, selective, 41Nov 4, 2021
    Tremor, hereditary essential, 51Nov 4, 2021
    Usher syndrome, type 2A1Nov 4, 2021
    White-sutton syndrome1Jun 17, 2021
    Williams syndrome1Dec 3, 2021
    Witteveen-kolk syndrome2Nov 4, 2021
    Wolfram syndrome 11Jun 17, 2021
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