Yale Center for Mendelian Genomics (Yale University)

General information

Yale Center for Mendelian Genomics
Yale University
New Haven
Connecticut
United States
http://ycmg.yale.edu
Organization ID: 506150

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 216

    Gene

    GeneSubmissionsLast Updated
    ACAT11Nov 27, 2017
    AFAP1L21Apr 2, 2019
    AGXT4Nov 27, 2017
    AHCY2Nov 27, 2017
    APC5Nov 27, 2017
    ATP6V1B11Nov 27, 2017
    AVIL4Apr 2, 2019
    BRAF1Nov 27, 2017
    CACNA1S1Nov 27, 2017
    CARD149Apr 2, 2019
    CLDN161Nov 27, 2017
    CLDN191Nov 27, 2017
    COL18A13Apr 2, 2019
    COL1A21Nov 27, 2017
    CPT21Nov 27, 2017
    CSDE11Nov 27, 2017
    DBNL1Nov 27, 2017
    DGKE2Nov 27, 2017
    DGUOK1Nov 27, 2017
    DNAH52Nov 27, 2017
    DSPP2Nov 27, 2017
    FAM186B1Nov 27, 2017
    FAT15Apr 2, 2019
    FGFR12Nov 27, 2017
    GATA61Apr 2, 2019
    GBA1Nov 1, 2017
    GH-LCR1Nov 27, 2017
    GNA111Nov 27, 2017
    GNA141Nov 27, 2017
    GNPTAB1Apr 2, 2019
    GREB1L11Apr 2, 2019
    GRHPR2Nov 27, 2017
    HPGD1Nov 1, 2017
    HRAS6Nov 27, 2017
    INCENP1Nov 27, 2017
    INPP5B1Nov 27, 2017
    IPO111Apr 2, 2019
    JAG14Apr 2, 2019
    KIF221Apr 2, 2019
    KISS1R1Apr 2, 2019
    KRAS3Nov 27, 2017
    KRT11Nov 27, 2017
    LAMA53Apr 2, 2019
    LOC1005073461Apr 2, 2019
    LOC1066279811Nov 1, 2017
    LRRC566Nov 27, 2017
    MC1R6Nov 27, 2017
    MPV171Apr 2, 2019
    MSH61Nov 1, 2017
    MYH31Nov 27, 2017
    NALCN13Apr 2, 2019
    NF15Apr 2, 2019
    NGLY11Nov 27, 2017
    NOTCH22Apr 2, 2019
    NRAS1Nov 27, 2017
    NRIP11Nov 27, 2017
    OCRL1Nov 27, 2017
    PCDH123Apr 2, 2019
    PFKM1Nov 27, 2017
    PGAM21Nov 27, 2017
    PIAS11Nov 27, 2017
    PKHD18Apr 2, 2019
    PNPLA116Apr 2, 2019
    PRG49Apr 2, 2019
    PTCH13Apr 2, 2019
    RBM481Nov 27, 2017
    RCOR11Nov 27, 2017
    RNF2131Apr 2, 2019
    RYR11Nov 27, 2017
    SCN4A1Nov 27, 2017
    SERAC11Apr 2, 2019
    SLC12A13Nov 27, 2017
    SLC19A12Apr 2, 2019
    SLC34A15Nov 27, 2017
    SLC3A11Nov 27, 2017
    SLC9A3R11Nov 27, 2017
    SLIT23Apr 2, 2019
    SMARCC15Apr 2, 2019
    SOS23Apr 2, 2019
    SRGAP12Apr 2, 2019
    TG1Nov 27, 2017
    TPR2Apr 2, 2019
    TRIM712Apr 2, 2019
    TSFM1Apr 2, 2019
    UNC808Apr 2, 2019
    VWA21Apr 2, 2019
    WNT10A4Apr 2, 2019

    Condition

    NameSubmissionsLast Updated
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Apr 2, 2019
    Alagille syndrome 22Apr 2, 2019
    Atypical hemolytic uremic syndrome1Nov 1, 2017
    Autoimmune thyroid disease 31Nov 27, 2017
    Bilateral cryptorchidism1Apr 2, 2019
    Camptodactyly-arthropathy-coxa vara-pericarditis syndrome9Apr 2, 2019
    Congenital anomalies of kidney and urinary tract6Apr 2, 2019
    Congenital hydrocephalus16Apr 2, 2019
    Congenital ichthyosiform erythroderma16Apr 2, 2019
    Congenital tufted angioma1Nov 27, 2017
    Cystic epithelial invagination containing papillae lined by columnar epithelium1Nov 27, 2017
    Deficiency of acetyl-CoA acetyltransferase1Nov 27, 2017
    Dent disease type 22Nov 27, 2017
    Denticles2Nov 27, 2017
    Dentinogenesis imperfecta1Nov 27, 2017
    Diencephalic-mesencephalic junction dysplasia syndrome3Apr 2, 2019
    Erythroderma, ichthyosiform, congenital reticular1Nov 27, 2017
    Familial adenomatous polyposis 15Nov 27, 2017
    Gaucher disease type I2Nov 1, 2017
    Hemolytic-uremic syndrome1Nov 27, 2017
    Hypertrophic osteoarthropathy, primary, autosomal recessive, 11Nov 1, 2017
    Hypogonadotropic hypogonadism 2 with or without anosmia2Nov 27, 2017
    Hypophosphatemia1Nov 27, 2017
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 113Apr 2, 2019
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 28Apr 2, 2019
    Intellectual disability1Nov 27, 2017
    Joubert syndrome1Nov 27, 2017
    Kaposiform hemangioendothelioma1Nov 27, 2017
    Knobloch syndrome 13Apr 2, 2019
    Lobular capillary hemangioma1Nov 27, 2017
    Lobular capillary hemangiomas1Nov 27, 2017
    Microphallus1Apr 2, 2019
    Midaortic syndrome11Apr 2, 2019
    Navajo neurohepatopathy1Apr 2, 2019
    Nephrocalcinosis18Nov 27, 2017
    Nephrolithiasis17Nov 27, 2017
    Nephronophthisis4Nov 27, 2017
    Nephrotic syndrome8Apr 2, 2019
    Neuromotor delay1Nov 27, 2017
    Nevus sebaceous3Nov 1, 2017
    Noonan syndrome3Apr 2, 2019
    Papulosquamous eruptions9Apr 2, 2019
    Peripheral neuropathy1Nov 27, 2017
    Polycystic liver disease8Apr 2, 2019
    Portal hypertension, noncirrhotic1Nov 27, 2017
    Primary ciliary dyskinesia2Nov 27, 2017
    Pseudo-Hurler polydystrophy1Apr 2, 2019
    Reduced number of teeth4Apr 2, 2019
    Renal agenesis and hypodysplasia11Apr 2, 2019
    Rhabdomyolysis9Nov 27, 2017
    Spondyloepimetaphyseal dysplasia with joint laxity, type 21Apr 2, 2019
    Steroid-resistant nephrotic syndrome4Apr 2, 2019
    Tyrosinase-positive oculocutaneous albinism6Nov 27, 2017
    Vascular Tumors Including Pyogenic Granuloma7Nov 27, 2017
    Vesicoureteral reflux1Apr 2, 2019
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