Clinical Genomics Program (Stanford Medicine), CGP

General information

Clinical Genomics Program, CGP
Stanford Medicine
900 Welch Road Suite 15, Ground Floor
Palo Alto
California
United States - 94305

Organization ID: 507411

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 86

    Gene

    GeneSubmissionsLast Updated
    ABCA32Aug 7, 2020
    ADSL1Aug 10, 2020
    AHDC11Aug 7, 2020
    ARID1A1Aug 19, 2020
    ARID1B1Aug 10, 2020
    BPTF1Aug 10, 2020
    BRCA21Aug 10, 2020
    CACNA1A1Aug 7, 2020
    CBL1Aug 7, 2020
    CLCN41Aug 10, 2020
    COL3A11Aug 10, 2020
    DDX3X1Aug 10, 2020
    DEAF11Aug 7, 2020
    DYRK1A1Aug 10, 2020
    FGFR21Aug 10, 2020
    FGFR31Aug 7, 2020
    FLNC1Aug 10, 2020
    GINS12Aug 10, 2020
    GLA1Aug 10, 2020
    GNB12Aug 10, 2020
    GRIN11Aug 10, 2020
    HDAC21Aug 27, 2020
    IRF2BPL1Aug 11, 2020
    KANSL11Aug 10, 2020
    KAT6A1Aug 10, 2020
    KCNA21Aug 7, 2020
    KMT2D3Aug 10, 2020
    LRBA1Aug 7, 2020
    MAB21L21Aug 7, 2020
    MAPK8IP31Aug 10, 2020
    MAST11Aug 10, 2020
    MEA11Aug 10, 2020
    MECP21Aug 10, 2020
    MEF2C1Aug 7, 2020
    MTOR1Aug 10, 2020
    MYBPC31Aug 10, 2020
    MYO61Aug 10, 2020
    NBAS1Aug 19, 2020
    NFASC2Aug 10, 2020
    NOG1Aug 19, 2020
    NSD21Aug 10, 2020
    OFD11Aug 7, 2020
    PHIP1Aug 10, 2020
    POGZ1Aug 7, 2020
    PPOX1Aug 10, 2020
    PPP2R5D1Aug 10, 2020
    PSAP1Aug 27, 2020
    PSAT12Aug 10, 2020
    PUF601Aug 10, 2020
    PURA1Aug 10, 2020
    RNASEH2B1Aug 10, 2020
    RPL36A-HNRNPH21Aug 10, 2020
    RPS71Aug 10, 2020
    SAMD9L1Aug 7, 2020
    SETD51Aug 10, 2020
    SLC22A52Aug 7, 2020
    SLC6A82Aug 10, 2020
    SMAD21Aug 7, 2020
    SMARCA41Aug 10, 2020
    SMC1A1Aug 10, 2020
    SNRPB1Aug 11, 2020
    SOX21Aug 7, 2020
    SOX2-OT1Aug 7, 2020
    SPG71Aug 11, 2020
    STAT31Aug 10, 2020
    TAF11Aug 11, 2020
    TBC1D242Aug 27, 2020
    TBCK1Aug 10, 2020
    TBX191Aug 10, 2020
    TCF41Aug 10, 2020
    THPO1Aug 7, 2020
    TNFRSF13B1Aug 10, 2020
    TRIO1Aug 10, 2020
    TSC21Aug 10, 2020
    UBE2A1Aug 17, 2020
    UBE4A1Aug 27, 2020
    UPF3B1Aug 10, 2020
    WAC1Aug 27, 2020
    WDR451Aug 10, 2020
    ZNF4621Aug 11, 2020

    Condition

    NameSubmissionsLast Updated
    Acrocephalosyndactyly type I1Aug 10, 2020
    Adenylosuccinate lyase deficiency1Aug 10, 2020
    Adrenocorticotropic hormone deficiency1Aug 10, 2020
    Aicardi Goutieres syndrome 21Aug 10, 2020
    Anophthalmia/microphthalmia-esophageal atresia syndrome1Aug 7, 2020
    Arboleda-Tham syndrome1Aug 10, 2020
    Ataxia-pancytopenia syndrome1Aug 7, 2020
    Autoimmune disease, multisystem, infantile-onset, 11Aug 10, 2020
    Autosomal dominant nonsyndromic deafness 221Aug 10, 2020
    Brachydactyly type B21Aug 19, 2020
    Breast-ovarian cancer, familial 21Aug 10, 2020
    CACNA1A-associated disorders1Aug 7, 2020
    Cerebro-costo-mandibular syndrome1Aug 11, 2020
    Coffin-Siris syndrome 11Aug 10, 2020
    Combined immunodeficiency due to GINS1 deficiency2Aug 10, 2020
    Common variable immunodeficiency 21Aug 10, 2020
    Congenital muscular hypertrophy-cerebral syndrome1Aug 10, 2020
    Creatine transporter deficiency2Aug 10, 2020
    Crouzon syndrome1Aug 10, 2020
    Desanto-shinawi syndrome1Aug 27, 2020
    Developmental delay, intellectual disability, obesity, and dysmorphic features1Aug 10, 2020
    Diamond-Blackfan anemia 81Aug 10, 2020
    Ehlers-Danlos syndrome, type 41Aug 10, 2020
    Epileptic encephalopathy, early infantile, 321Aug 7, 2020
    FLNC-associated cardiomyopathy1Aug 10, 2020
    Fabry disease1Aug 10, 2020
    Familial hypertrophic cardiomyopathy 41Aug 10, 2020
    Hereditary spastic paraplegia 71Aug 11, 2020
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 10, 2020
    Infantile liver failure syndrome 21Aug 19, 2020
    Joubert syndrome 101Aug 7, 2020
    Kabuki syndrome 13Aug 10, 2020
    Koolen-de Vries syndrome1Aug 10, 2020
    Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Aug 10, 2020
    Mental retardation 49, X-linked1Aug 10, 2020
    Mental retardation, X-linked 1021Aug 10, 2020
    Mental retardation, X-linked, syndromic 331Aug 11, 2020
    Mental retardation, autosomal dominant 141Aug 19, 2020
    Mental retardation, autosomal dominant 161Aug 10, 2020
    Mental retardation, autosomal dominant 231Aug 10, 2020
    Mental retardation, autosomal dominant 241Aug 7, 2020
    Mental retardation, autosomal dominant 311Aug 10, 2020
    Mental retardation, autosomal dominant 351Aug 10, 2020
    Mental retardation, autosomal dominant 422Aug 10, 2020
    Mental retardation, autosomal dominant 441Aug 10, 2020
    Mental retardation, autosomal dominant 71Aug 10, 2020
    Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Aug 7, 2020
    Mental retardation, syndromic 14, X-linked1Aug 10, 2020
    Microphthalmia/coloboma and skeletal dysplasia syndrome1Aug 7, 2020
    Muenke syndrome1Aug 7, 2020
    NSD2-associated disorder1Aug 10, 2020
    Neu-laxova syndrome 22Aug 10, 2020
    Neurodegeneration with brain iron accumulation 51Aug 10, 2020
    Neurodevelopmental disorder with central and peripheral motor dysfunction2Aug 10, 2020
    Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Aug 10, 2020
    Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Aug 10, 2020
    Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Aug 10, 2020
    Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Aug 11, 2020
    Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Aug 7, 2020
    Pfeiffer syndrome1Aug 10, 2020
    Phosphoserine aminotransferase deficiency2Aug 10, 2020
    Pitt-Hopkins syndrome1Aug 10, 2020
    Renal carnitine transport defect2Aug 7, 2020
    Rett syndrome1Aug 10, 2020
    SMAD2-congenital heart disease and multiple congenital anomaly disorder1Aug 7, 2020
    Short stature, optic nerve atrophy, and Pelger-Huet anomaly1Aug 19, 2020
    Smith-Kingsmore syndrome1Aug 10, 2020
    Stapes ankylosis with broad thumb and toes1Aug 19, 2020
    Surfactant metabolism dysfunction, pulmonary, 32Aug 7, 2020
    Symphalangism, proximal, 1A1Aug 19, 2020
    Symphalangism-brachydactyly syndrome1Aug 19, 2020
    Syndromic mental retardation, Nascimento type, X-linked1Aug 17, 2020
    Tarsal-carpal coalition syndrome1Aug 19, 2020
    Thrombocythemia 11Aug 7, 2020
    Tuberous sclerosis 21Aug 10, 2020
    Variegate porphyria1Aug 10, 2020
    Verheij syndrome1Aug 10, 2020
    Weiss-kruszka syndrome1Aug 11, 2020
    White-sutton syndrome1Aug 7, 2020
    Xia-Gibbs syndrome1Aug 7, 2020
    atypical Wolf-Hirschhorn syndrome1Aug 10, 2020
    not provided3Aug 27, 2020
    not specified2Aug 27, 2020
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