U.S. flag

An official website of the United States government

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: 879

    Gene

    GeneSubmissionsLast Updated
    ACAT11Nov 27, 2017
    ACTB5Mar 21, 2022
    ACTG11Mar 21, 2022
    ACTL6B6Mar 21, 2022
    ADAMTS92Mar 21, 2022
    ADAMTS9-AS11Mar 21, 2022
    ADAMTS9-AS21Mar 21, 2022
    AFAP1L21Apr 2, 2019
    AGXT10Mar 21, 2022
    AHCY2Nov 27, 2017
    ALG136Mar 21, 2022
    ALK2Mar 21, 2022
    ALOXE31Mar 21, 2022
    ANOS13Mar 21, 2022
    AP4B130Mar 21, 2022
    AP4B1-AS119Mar 21, 2022
    AP4E19Mar 21, 2022
    AP4M124Mar 21, 2022
    AP4S110Mar 21, 2022
    APC5Nov 27, 2017
    AQP21Mar 21, 2022
    AQP5-AS11Mar 21, 2022
    ATIC1Mar 21, 2022
    ATL12Mar 21, 2022
    ATP6V0A43Mar 21, 2022
    ATP6V1B14Mar 21, 2022
    ATP6V1C21Mar 21, 2022
    ATRIP1Mar 21, 2022
    ATRIP-TREX11Mar 21, 2022
    AVIL4Apr 2, 2019
    AXDND15Mar 21, 2022
    AXL2Mar 21, 2022
    BBS91Mar 21, 2022
    BRAF2Mar 21, 2022
    C31Mar 21, 2022
    C6orf8910Mar 21, 2022
    CACNA1C1Mar 21, 2022
    CACNA1E13Mar 21, 2022
    CACNA1S1Nov 27, 2017
    CARD149Apr 2, 2019
    CCDC399Mar 21, 2022
    CCDC404Mar 21, 2022
    CCND21Mar 21, 2022
    CCNO2Mar 21, 2022
    CDC401Mar 21, 2022
    CDK201Mar 21, 2022
    CELSR33Mar 21, 2022
    CFAP2212Mar 21, 2022
    CFAP571Mar 21, 2022
    CFI1Mar 21, 2022
    CHD76Mar 21, 2022
    CLCN52Mar 21, 2022
    CLCNKB1Mar 21, 2022
    CLDN142Mar 21, 2022
    CLDN14-AS12Mar 21, 2022
    CLDN161Nov 27, 2017
    CLDN191Nov 27, 2017
    COG11Mar 21, 2022
    COL18A13Apr 2, 2019
    COL1A21Nov 27, 2017
    COL4A111Mar 21, 2022
    COL4A21Mar 21, 2022
    COL4A31Mar 21, 2022
    COL4A45Mar 21, 2022
    COL4A58Mar 21, 2022
    COQ22Mar 21, 2022
    CPT21Nov 27, 2017
    CRY12Mar 21, 2022
    CSDE11Nov 27, 2017
    CTNNA11Mar 21, 2022
    CTNNB11Mar 21, 2022
    CTNS1Mar 21, 2022
    CTU21Mar 21, 2022
    CTXN2-AS11Nov 27, 2017
    DBNL1Nov 27, 2017
    DCC3Mar 21, 2022
    DDX531Mar 21, 2022
    DGKE3Mar 21, 2022
    DGUOK1Nov 27, 2017
    DHTKD11Mar 21, 2022
    DHX322Mar 21, 2022
    DHX81Mar 21, 2022
    DMXL22Mar 21, 2022
    DNAAF12Mar 21, 2022
    DNAAF192Mar 21, 2022
    DNAAF31Mar 21, 2022
    DNAAF3-AS11Mar 21, 2022
    DNAAF41Mar 21, 2022
    DNAAF4-CCPG11Mar 21, 2022
    DNAAF61Mar 21, 2022
    DNAH112Mar 21, 2022
    DNAH534Mar 21, 2022
    DNAI13Mar 21, 2022
    DNASE11Mar 21, 2022
    DSPP2Nov 27, 2017
    DUSP291Mar 21, 2022
    DYNC1H11Mar 21, 2022
    DYNC2H11Mar 21, 2022
    EPHB42Mar 21, 2022
    ESRRB1Mar 21, 2022
    ETV41Mar 21, 2022
    EYA13Mar 21, 2022
    FAM186B1Nov 27, 2017
    FAN12Mar 21, 2022
    FANCI1Mar 21, 2022
    FAT15Apr 2, 2019
    FAT42Mar 21, 2022
    FBN11Mar 21, 2022
    FBXO312Mar 21, 2022
    FEZF11Mar 21, 2022
    FGFR15Mar 21, 2022
    FLRT31Mar 21, 2022
    FN11Mar 21, 2022
    FOXC17Mar 21, 2022
    FOXJ11Mar 21, 2022
    FRAS12Mar 21, 2022
    FREM25Mar 21, 2022
    GATA61Apr 2, 2019
    GBA11Nov 1, 2017
    GH-LCR1Nov 27, 2017
    GIMAP1-GIMAP54Mar 21, 2022
    GIMAP54Mar 21, 2022
    GJA42Mar 21, 2022
    GJB21Mar 21, 2022
    GLA1Mar 21, 2022
    GLI21Mar 21, 2022
    GLI31Mar 21, 2022
    GNA111Nov 27, 2017
    GNA141Nov 27, 2017
    GNPTAB1Apr 2, 2019
    GNRH11Mar 21, 2022
    GNRHR2Mar 21, 2022
    GPC41Mar 21, 2022
    GREB1L13Mar 21, 2022
    GRHPR2Nov 27, 2017
    GRIA31Mar 21, 2022
    HEATR5B2Mar 21, 2022
    HESX11Mar 21, 2022
    HNF1B4Mar 21, 2022
    HPDL28Mar 21, 2022
    HPGD1Nov 1, 2017
    HPSE22Mar 21, 2022
    HRAS9Mar 21, 2022
    IFT1401Mar 21, 2022
    INCENP1Nov 27, 2017
    INF24Mar 21, 2022
    INPP5B1Nov 27, 2017
    IPO111Apr 2, 2019
    ITGA32Mar 21, 2022
    JAG16Mar 21, 2022
    KANK41Mar 21, 2022
    KAT6A2Mar 21, 2022
    KAT6B1Mar 21, 2022
    KDR1Mar 21, 2022
    KEL2Mar 21, 2022
    KIF221Apr 2, 2019
    KIRREL21Mar 21, 2022
    KISS1R1Apr 2, 2019
    KL2Mar 21, 2022
    KLB2Mar 21, 2022
    KMT2D1Mar 21, 2022
    KRAS3Nov 27, 2017
    KRT11Nov 27, 2017
    KRT101Mar 21, 2022
    KRT10-AS11Mar 21, 2022
    LAMA53Apr 2, 2019
    LAMB26Mar 21, 2022
    LHX31Mar 21, 2022
    LMX1B1Mar 21, 2022
    LOC1002879442Mar 21, 2022
    LOC1005073461Apr 2, 2019
    LOC1019275214Apr 2, 2019
    LOC1053710461Mar 21, 2022
    LOC1053715661Mar 21, 2022
    LOC1065017131Mar 21, 2022
    LOC1066279811Nov 1, 2017
    LOC1073723151Mar 21, 2022
    LOC1082811771Mar 21, 2022
    LOC1129975401Mar 21, 2022
    LOC1228612861Apr 2, 2019
    LOC1268066581Mar 21, 2022
    LOC1268596901Mar 21, 2022
    LOC1268607941Mar 21, 2022
    LOC1268624421Mar 21, 2022
    LOC1268626341Mar 21, 2022
    LOC1268632581Mar 21, 2022
    LOC1299304392Mar 21, 2022
    LOC1299304401Mar 21, 2022
    LOC1299340961Nov 27, 2017
    LOC1299938952Mar 21, 2022
    LOC1300597401Mar 21, 2022
    LRP26Mar 21, 2022
    LRRC37A22Mar 21, 2022
    LRRC569Mar 21, 2022
    MACROD21Mar 21, 2022
    MAP2K21Mar 21, 2022
    MC1R6Nov 27, 2017
    METAP11Mar 21, 2022
    MFF-DT1Mar 21, 2022
    MPV171Apr 2, 2019
    MSH61Nov 1, 2017
    MTMR102Mar 21, 2022
    MTOR2Mar 21, 2022
    MVD2Mar 21, 2022
    MXRA51Mar 21, 2022
    MYCN1Mar 21, 2022
    MYH31Nov 27, 2017
    MYO15A2Mar 21, 2022
    MYO1E2Mar 21, 2022
    MYO9A4Mar 21, 2022
    NALCN13Apr 2, 2019
    NF15Apr 2, 2019
    NGLY11Nov 27, 2017
    NHERF11Nov 27, 2017
    NKX6-213Mar 21, 2022
    NOTCH14Mar 21, 2022
    NOTCH25Mar 21, 2022
    NPHP13Mar 21, 2022
    NPHP41Mar 21, 2022
    NPHS113Mar 21, 2022
    NPHS29Mar 21, 2022
    NRAS1Nov 27, 2017
    NRIP12Mar 21, 2022
    NUP934Mar 21, 2022
    OCRL2Mar 21, 2022
    ODAD11Mar 21, 2022
    OFD13Mar 21, 2022
    OSGEP2Mar 21, 2022
    OTUD41Mar 21, 2022
    PAX23Mar 21, 2022
    PCDH123Apr 2, 2019
    PDSS21Mar 21, 2022
    PFKM1Nov 27, 2017
    PGAM21Nov 27, 2017
    PIAS11Nov 27, 2017
    PIK3CA4Mar 21, 2022
    PIK3R23Mar 21, 2022
    PKHD112Mar 21, 2022
    PLCE19Mar 21, 2022
    PLCE1-AS13Mar 21, 2022
    PMVK3Mar 21, 2022
    PNPLA116Apr 2, 2019
    PNPLA61Mar 21, 2022
    POFUT11Mar 21, 2022
    POLR1C1Mar 21, 2022
    POLR3B7Mar 21, 2022
    PPIL110Mar 21, 2022
    PREPL1Mar 21, 2022
    PRG49Apr 2, 2019
    PROK21Mar 21, 2022
    PROKR24Mar 21, 2022
    PROP11Mar 21, 2022
    PTCH13Apr 2, 2019
    PTCHD1-AS1Mar 21, 2022
    PTEN4Mar 21, 2022
    RAB3GAP12Mar 21, 2022
    RAB3GAP23Mar 21, 2022
    RANBP171Apr 2, 2019
    RBM481Nov 27, 2017
    RCOR11Nov 27, 2017
    RHOB1Mar 21, 2022
    RNF143Apr 2, 2019
    RNF1702Mar 21, 2022
    RNF2131Apr 2, 2019
    ROBO21Mar 21, 2022
    RPGR1Mar 21, 2022
    RPL36A-HNRNPH21Mar 21, 2022
    RSPH91Mar 21, 2022
    RYR11Nov 27, 2017
    SALL13Mar 21, 2022
    SCN2A2Mar 21, 2022
    SCN4A1Nov 27, 2017
    SEMA3A1Mar 21, 2022
    SEMA3E1Mar 21, 2022
    SERAC11Apr 2, 2019
    SGPL12Mar 21, 2022
    SLC12A13Nov 27, 2017
    SLC19A12Apr 2, 2019
    SLC29A31Mar 21, 2022
    SLC34A15Nov 27, 2017
    SLC35A25Mar 21, 2022
    SLC35F11Mar 21, 2022
    SLC3A12Mar 21, 2022
    SLC4A13Mar 21, 2022
    SLC4A21Mar 21, 2022
    SLC51A1Mar 21, 2022
    SLC7A52Mar 21, 2022
    SLIT23Apr 2, 2019
    SMAD61Mar 21, 2022
    SMARCA21Mar 21, 2022
    SMARCAL16Mar 21, 2022
    SMARCC15Apr 2, 2019
    SOS23Apr 2, 2019
    SOX111Mar 21, 2022
    SOX21Mar 21, 2022
    SOX2-OT1Mar 21, 2022
    SPAG12Mar 21, 2022
    SPAST2Mar 21, 2022
    SPRY42Mar 21, 2022
    SPTAN11Mar 21, 2022
    SRA11Mar 21, 2022
    SRGAP14Mar 21, 2022
    SYNPO1Mar 21, 2022
    TACR31Mar 21, 2022
    TAF116Mar 21, 2022
    TBC1D8B1Mar 21, 2022
    TBX182Mar 21, 2022
    TCF121Mar 21, 2022
    TFAP2B4Mar 21, 2022
    TFCP2L11Mar 21, 2022
    TG1Nov 27, 2017
    TMC11Mar 21, 2022
    TMEM2311Mar 21, 2022
    TNR8Mar 21, 2022
    TP631Mar 21, 2022
    TPR2Apr 2, 2019
    TPRKB1Mar 21, 2022
    TRAP11Mar 21, 2022
    TREX11Mar 21, 2022
    TRIM712Apr 2, 2019
    TRIM88Mar 21, 2022
    TRPC62Mar 21, 2022
    TRPS11Mar 21, 2022
    TSFM1Apr 2, 2019
    TTC21B4Mar 21, 2022
    TTC21B-AS11Mar 21, 2022
    TUBA1A3Mar 21, 2022
    UMOD3Mar 21, 2022
    UNC808Apr 2, 2019
    VWA21Apr 2, 2019
    WDR111Mar 21, 2022
    WDR722Mar 21, 2022
    WDR733Mar 21, 2022
    WFS11Mar 21, 2022
    WNK41Mar 21, 2022
    WNT10A4Apr 2, 2019
    WNT9B2Mar 21, 2022
    WT11Mar 21, 2022
    ZMYM214Mar 21, 2022

    Condition

    NameSubmissionsLast Updated
    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Apr 2, 2019
    Abnormal circulating immunoglobulin concentration1Mar 21, 2022
    Abnormal facial shape1Mar 21, 2022
    Abnormality of the skeletal system1Mar 21, 2022
    Accessory ectopic thyroid tissue1Mar 21, 2022
    Alagille syndrome due to a NOTCH2 point mutation2Apr 2, 2019
    Alport syndrome1Mar 21, 2022
    Amenorrhea51Mar 21, 2022
    Asphyxiating thoracic dystrophy 31Mar 21, 2022
    Attention deficit hyperactivity disorder2Mar 21, 2022
    Atypical coarctation of aorta11Apr 2, 2019
    Atypical hemolytic-uremic syndrome1Nov 1, 2017
    Atypical hemolytic-uremic syndrome with C3 anomaly1Mar 21, 2022
    Autism spectrum disorder8Mar 21, 2022
    Autoimmune thyroid disease, susceptibility to, 31Nov 27, 2017
    Autosomal dominant Alport syndrome5Mar 21, 2022
    Autosomal dominant polycystic liver disease8Apr 2, 2019
    Autosomal recessive polycystic kidney disease2Mar 21, 2022
    Bardet-Biedl syndrome 91Mar 21, 2022
    Bartter disease type 31Mar 21, 2022
    Bilateral cryptorchidism1Apr 2, 2019
    Branchiooculofacial syndrome2Mar 21, 2022
    Camptodactyly-arthropathy-coxa vara-pericarditis syndrome9Apr 2, 2019
    Cardiofaciocutaneous syndrome 41Mar 21, 2022
    Cerebral palsy2Mar 21, 2022
    Cholestasis, progressive familial intrahepatic, 61Mar 21, 2022
    Chronic kidney disease3Mar 21, 2022
    Ciliary dyskinesia, primary, 431Mar 21, 2022
    Complement-mediated glomerular disease1Mar 21, 2022
    Congenital anomaly of kidney and urinary tract66Mar 21, 2022
    Congenital hydrocephalus16Apr 2, 2019
    Congenital ichthyosiform erythroderma16Apr 2, 2019
    Congenital nonbullous ichthyosiform erythroderma1Mar 21, 2022
    Congenital pontocerebellar hypoplasia13Mar 21, 2022
    Congenital reticular ichthyosiform erythroderma1Nov 27, 2017
    Congenital smooth muscle hamartoma5Mar 21, 2022
    Congenital tufted angioma1Nov 27, 2017
    Conspicuously happy disposition1Mar 21, 2022
    Cowden syndrome1Mar 21, 2022
    Craniosynostosis syndrome11Mar 21, 2022
    Cystic epithelial invagination containing papillae lined by columnar epithelium2Mar 21, 2022
    Cystic renal dysplasia1Mar 21, 2022
    Cystinuria1Mar 21, 2022
    Deficiency of acetyl-CoA acetyltransferase1Nov 27, 2017
    Dent disease type 12Mar 21, 2022
    Dent disease type 22Nov 27, 2017
    Denticles2Nov 27, 2017
    Dentinogenesis imperfecta1Nov 27, 2017
    Diabetes insipidus, nephrogenic, autosomal1Mar 21, 2022
    Diencephalic-mesencephalic junction dysplasia3Apr 2, 2019
    Disease of glomerular basement membrane4Mar 21, 2022
    Distal renal tubular acidosis13Mar 21, 2022
    Donnai-Barrow syndrome6Mar 21, 2022
    Dowling-Degos disease 21Mar 21, 2022
    Dysosteosclerosis1Mar 21, 2022
    Early infantile epileptic encephalopathy with suppression bursts13Mar 21, 2022
    Ectopic thyroid1Mar 21, 2022
    Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31Mar 21, 2022
    Epidermolytic acanthoma1Mar 21, 2022
    Familial adenomatous polyposis 15Nov 27, 2017
    Familial aplasia of the vermis1Nov 27, 2017
    Familial juvenile hyperuricemic nephropathy type 13Mar 21, 2022
    Fanconi anemia complementation group I1Mar 21, 2022
    Feingold syndrome1Mar 21, 2022
    Focal segmental glomerulosclerosis20Mar 21, 2022
    Focal segmental glomerulosclerosis 52Mar 21, 2022
    Fraser syndrome 22Mar 21, 2022
    Frasier syndrome1Mar 21, 2022
    Gaucher disease type I2Nov 1, 2017
    Greig cephalopolysyndactyly syndrome1Mar 21, 2022
    HANAC-like syndrome1Mar 21, 2022
    Hearing impairment5Mar 21, 2022
    Heart, malformation of16Mar 21, 2022
    Hemolytic-uremic syndrome1Nov 27, 2017
    Hepatic Ductular Hypoplasia2Mar 21, 2022
    Hepatic hemangioma1Mar 21, 2022
    Hereditary cancer-predisposing syndrome2Mar 21, 2022
    Hypertrophic osteoarthropathy, primary, autosomal recessive, 11Nov 1, 2017
    Hypogonadotropic hypogonadism4Mar 21, 2022
    Hypogonadotropic hypogonadism 2 with or without anosmia2Nov 27, 2017
    Hypogonadotropic hypogonadism 3 with or without anosmia1Mar 21, 2022
    Hypophosphatemia1Nov 27, 2017
    Hypotonia2Mar 21, 2022
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 113Apr 2, 2019
    Hypotonia, infantile, with psychomotor retardation and characteristic facies 28Apr 2, 2019
    Intellectual disability3Mar 21, 2022
    KA-like vemurafenib-induced squamous lesions5Mar 21, 2022
    Kaposiform hemangioendothelioma1Nov 27, 2017
    Karyomegalic interstitial nephritis2Mar 21, 2022
    Keratoacanthoma5Mar 21, 2022
    Knobloch syndrome3Apr 2, 2019
    Linear porokeratosis5Mar 21, 2022
    Lingual thyroid1Mar 21, 2022
    Lobular capillary hemangiomas1Nov 27, 2017
    Lowe syndrome1Mar 21, 2022
    Macrocephaly1Mar 21, 2022
    Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Mar 21, 2022
    Marfan syndrome1Mar 21, 2022
    Megalencephaly-capillary malformation-polymicrogyria syndrome2Mar 21, 2022
    Microcephaly3Mar 21, 2022
    Microphallus1Apr 2, 2019
    Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Apr 2, 2019
    Motor tics1Mar 21, 2022
    Movement disorder1Mar 21, 2022
    Nephrocalcinosis18Nov 27, 2017
    Nephrolithiasis17Nov 27, 2017
    Nephronophthisis8Mar 21, 2022
    Nephronophthisis 12Mar 21, 2022
    Nephrotic syndrome91Mar 21, 2022
    Neurodevelopmental delay13Mar 21, 2022
    Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus8Mar 21, 2022
    Neuromotor delay1Nov 27, 2017
    Nevus sebaceous3Nov 1, 2017
    Noonan syndrome3Apr 2, 2019
    PTEN hamartoma tumor syndrome2Mar 21, 2022
    Papulosquamous eruptions9Apr 2, 2019
    Peripheral neuropathy1Nov 27, 2017
    Phonic tics1Mar 21, 2022
    Pilomyxoid astrocytoma2Mar 21, 2022
    Polycystic kidney disease1Mar 21, 2022
    Polycystic kidney disease 42Mar 21, 2022
    Portal hypertension4Mar 21, 2022
    Portal hypertension, noncirrhotic1Nov 27, 2017
    Primary ciliary dyskinesia72Mar 21, 2022
    Primary hyperoxaluria, type I4Mar 21, 2022
    Pseudo-Hurler polydystrophy1Apr 2, 2019
    Pseudo-fractures1Mar 21, 2022
    Pseudohypoaldosteronism type 2B1Mar 21, 2022
    Pyogenic granuloma1Nov 27, 2017
    Recurrent hand flapping1Mar 21, 2022
    Recurrent pancreatitis1Mar 21, 2022
    Renal agenesis and hypodysplasia11Apr 2, 2019
    Renal cysts and diabetes syndrome3Mar 21, 2022
    Renal dysplasia1Mar 21, 2022
    Renal hypoplasia1Mar 21, 2022
    Rhabdomyolysis9Nov 27, 2017
    Saldino-Mainzer syndrome1Mar 21, 2022
    Seizure22Mar 21, 2022
    Skin hemangioma1Mar 21, 2022
    Sleep-wake schedule disorder, delayed phase type2Mar 21, 2022
    Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy13Mar 21, 2022
    Spastic cerebral palsy1Mar 21, 2022
    Spastic paraplegia103Mar 21, 2022
    Spondyloepimetaphyseal dysplasia with multiple dislocations1Apr 2, 2019
    Steroid-resistant nephrotic syndrome7Mar 21, 2022
    Thrombotic microangiopathy1Mar 21, 2022
    Thyroid tumor1Mar 21, 2022
    Tics1Mar 21, 2022
    Tooth agenesis4Apr 2, 2019
    Tourette syndrome3Mar 21, 2022
    Townes syndrome1Mar 21, 2022
    Tufted angioma of skin1Mar 21, 2022
    Tyrosinase-positive oculocutaneous albinism6Nov 27, 2017
    Vascular Tumors Including Pyogenic Granuloma7Nov 27, 2017
    Vein of Galen aneurysmal malformation9Mar 21, 2022
    Vesicoureteral reflux1Apr 2, 2019
    Wolfram-like syndrome1Mar 21, 2022
    cutaneous-skeletal hypophosphatemia syndrome1Mar 21, 2022
    non-lesional focal epilepsy5Mar 21, 2022