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Genomics And Bioinformatics Analysis Resource (Columbia University)

General information

Genomics And Bioinformatics Analysis Resource
Columbia University
New York
New York
United States - 10032
https://www.igm.columbia.edu/services/genomic-bioinformatics-analysis-resource-genbar
Organization ID: 509221

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 90

    Gene

    GeneSubmissionsLast Updated
    ABCB115Aug 9, 2023
    ABCB42Aug 9, 2023
    ACVRL11Aug 9, 2023
    AGXT1Aug 9, 2023
    APC2Aug 9, 2023
    ATP7B5Aug 9, 2023
    ATP8B11Aug 9, 2023
    CFTR4Aug 9, 2023
    CFTR-AS11Aug 9, 2023
    ENG1Aug 9, 2023
    GANAB3Aug 9, 2023
    GNB19Mar 13, 2016
    HBB2Aug 9, 2023
    HFE3Aug 9, 2023
    HFE-AS11Aug 9, 2023
    HMBS1Aug 9, 2023
    HNF1A5Aug 9, 2023
    HNF1B1Aug 9, 2023
    HNF4A2Aug 9, 2023
    HPS11Aug 9, 2023
    JAG15Aug 9, 2023
    KIF1A2Jul 10, 2017
    LOC1060990622Aug 9, 2023
    LOC1071335102Aug 9, 2023
    LOC1268611101Aug 9, 2023
    LOC1268622641Aug 9, 2023
    LOC1268625491Aug 9, 2023
    LOC1299306681Aug 9, 2023
    MEFV2Aug 9, 2023
    MYBPC11Mar 26, 2019
    NOTCH11Aug 9, 2023
    PGM12Aug 9, 2023
    PHKA22Aug 9, 2023
    PKD15Aug 9, 2023
    PKD1-AS11Aug 9, 2023
    PKHD14Aug 9, 2023
    PRKCSH3Aug 9, 2023
    SEC634Aug 9, 2023
    SERPINA11Aug 9, 2023
    SETBP11Feb 27, 2020
    TALDO11Aug 9, 2023
    TNFRSF1A1Aug 9, 2023
    TSC11Aug 9, 2023
    TTC21B2Aug 9, 2023
    TTC21B-AS11Aug 9, 2023
    UROD1Aug 9, 2023
    WDR192Aug 9, 2023

    Condition

    NameSubmissionsLast Updated
    Acute intermittent porphyria1Aug 9, 2023
    Alagille syndrome due to a JAG1 point mutation5Aug 9, 2023
    Alpha-1-antitrypsin deficiency1Aug 9, 2023
    Aortic valve disease 11Aug 9, 2023
    Beta-thalassemia HBB/LCRB1Aug 9, 2023
    Bilateral tonic-clonic seizure2Mar 13, 2016
    Cerebral visual impairment2Mar 13, 2016
    Cystic fibrosis4Aug 9, 2023
    Deficiency of transaldolase1Aug 9, 2023
    Developmental regression2Mar 13, 2016
    EEG with generalized epileptiform discharges3Mar 13, 2016
    Expressive language delay3Mar 13, 2016
    Failure to thrive4Mar 13, 2016
    Familial Mediterranean fever2Aug 9, 2023
    Familial adenomatous polyposis 12Aug 9, 2023
    Familial porphyria cutanea tarda1Aug 9, 2023
    Feeding difficulties3Mar 13, 2016
    Focal impaired awareness seizure3Mar 13, 2016
    Global developmental delay9Mar 13, 2016
    Glycogen storage disease IXa12Aug 9, 2023
    Growth delay4Mar 13, 2016
    Hb SS disease1Aug 9, 2023
    Hemochromatosis type 13Aug 9, 2023
    Hermansky-Pudlak syndrome 11Aug 9, 2023
    Hypotonia8Mar 13, 2016
    Inability to walk2Mar 13, 2016
    Infantile muscular hypotonia3Mar 13, 2016
    Intellectual disability4Mar 13, 2016
    Intellectual disability, autosomal dominant 92Jul 10, 2017
    Limb hypertonia4Mar 13, 2016
    MYBPC1-related disorder1Mar 26, 2019
    Maturity-onset diabetes of the young type 12Aug 9, 2023
    Maturity-onset diabetes of the young type 35Aug 9, 2023
    Multifocal epileptiform discharges4Mar 13, 2016
    Nephronophthisis 122Aug 9, 2023
    Nystagmus2Mar 13, 2016
    PGM1-congenital disorder of glycosylation2Aug 9, 2023
    Polycystic kidney disease 3 with or without polycystic liver disease3Aug 9, 2023
    Polycystic kidney disease 44Aug 9, 2023
    Polycystic kidney disease, adult type5Aug 9, 2023
    Polycystic liver disease 13Aug 9, 2023
    Polycystic liver disease 24Aug 9, 2023
    Primary hyperoxaluria, type I1Aug 9, 2023
    Progressive familial intrahepatic cholestasis type 11Aug 9, 2023
    Progressive familial intrahepatic cholestasis type 25Aug 9, 2023
    Progressive familial intrahepatic cholestasis type 32Aug 9, 2023
    Renal cysts and diabetes syndrome1Aug 9, 2023
    Schinzel-Giedion syndrome1Feb 27, 2020
    Seizure7Mar 13, 2016
    Senior-Loken syndrome 82Aug 9, 2023
    Strabismus4Mar 13, 2016
    TNF receptor-associated periodic fever syndrome (TRAPS)1Aug 9, 2023
    Telangiectasia, hereditary hemorrhagic, type 11Aug 9, 2023
    Telangiectasia, hereditary hemorrhagic, type 21Aug 9, 2023
    Tuberous sclerosis 11Aug 9, 2023
    Wilson disease5Aug 9, 2023