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Reproductive Health Research and Development (BGI Genomics)

General information

Reproductive Health Research and Development
BGI Genomics
Shenzhen
Guangdong
China

Organization ID: 507058

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 218

    Gene

    GeneSubmissionsLast Updated
    ABCA42Jan 6, 2020
    ABCC21Jan 6, 2020
    ABCC66Jan 6, 2020
    ABCC81Jan 6, 2020
    ACADM1Jan 6, 2020
    ACADS2Jan 6, 2020
    ADAMTS131Jan 6, 2020
    AGA1Jan 6, 2020
    AGBL11Jan 6, 2020
    AIPL11Jan 6, 2020
    ALPL1Jan 6, 2020
    ANK12Jan 6, 2020
    ANKS61Jan 6, 2020
    ANO101Jan 6, 2020
    ANO51Jan 6, 2020
    APOC22Jan 6, 2020
    APOC4-APOC22Jan 6, 2020
    APOE1Jan 6, 2020
    ASPA1Jan 6, 2020
    ATP7B1Jan 6, 2020
    BCHE1Jan 6, 2020
    BCKDHB1Jan 6, 2020
    BCL11A1Jan 6, 2020
    BLK1Jan 6, 2020
    C21Jan 6, 2020
    C61Jan 6, 2020
    C91Jan 6, 2020
    CCDC1071Jan 6, 2020
    CCDST5Jan 6, 2020
    CD364Jan 6, 2020
    CD41Jan 6, 2020
    CERS11Jan 6, 2020
    CLRN11Jan 6, 2020
    CNGA31Jan 6, 2020
    CPT21Jan 6, 2020
    CRADD1Jan 6, 2020
    CRB22Jan 6, 2020
    CRYGB1Jan 6, 2020
    CST31Jan 6, 2020
    CYP21A22Jan 6, 2020
    DBNL1Jan 6, 2020
    DCHS11Jan 6, 2020
    DCPS1Jan 6, 2020
    DDX111Jan 6, 2020
    DDX251Jan 6, 2020
    DHCR71Jan 6, 2020
    DHDDS1Jan 6, 2020
    DLD1Jan 6, 2020
    DUOX22Jan 6, 2020
    DUOXA21Jan 6, 2020
    DYNC2H11Jan 6, 2020
    DYNC2I11Jan 6, 2020
    EDA1Jan 6, 2020
    ELP11Jan 6, 2020
    ERCC11Jan 6, 2020
    ERCC21Jan 6, 2020
    ERCC31Jan 6, 2020
    EYS3Jan 6, 2020
    F112Jan 6, 2020
    F21Jan 6, 2020
    FANCC1Jan 6, 2020
    FBP11Jan 6, 2020
    FCN31Jan 6, 2020
    FKBP101Jan 6, 2020
    FKTN1Jan 6, 2020
    FLG5Jan 6, 2020
    FOXC11Jan 6, 2020
    FSHR1Jan 6, 2020
    G6PC11Jan 6, 2020
    G6PD4Jan 6, 2020
    GAA1Jan 6, 2020
    GATA48Jan 6, 2020
    GATA61Jan 6, 2020
    GBE11Jan 6, 2020
    GCDH1Jan 6, 2020
    GDF11Jan 6, 2020
    GLE11Jan 6, 2020
    GNE1Jan 6, 2020
    GNRHR2Jan 6, 2020
    GPIHBP11Jan 6, 2020
    GRIP11Jan 6, 2020
    GSEC1Jan 6, 2020
    HBB2Jan 6, 2020
    HBD1Jan 6, 2020
    HEXA1Jan 6, 2020
    HOGA11Jan 6, 2020
    HTT1Jan 6, 2020
    HYLS11Jan 6, 2020
    IER3IP11Jan 6, 2020
    IL36RN1Jan 6, 2020
    KIAA05861Jan 6, 2020
    KIRREL22Jan 6, 2020
    KIZ1Jan 6, 2020
    KLHL101Jan 6, 2020
    KLKB11Jan 6, 2020
    KRT81Jan 6, 2020
    LCT1Jan 6, 2020
    LDLRAP11Jan 6, 2020
    LIPC1Jan 6, 2020
    LIX1L-AS11Jan 6, 2020
    LOC1005074431Jan 6, 2020
    LOC1027236921Jan 6, 2020
    LOC1060293121Jan 6, 2020
    LOC1060990622Jan 6, 2020
    LOC1060990631Jan 6, 2020
    LOC1067808002Jan 6, 2020
    LOC1071335102Jan 6, 2020
    LOC1268057941Jan 6, 2020
    LOC1268058511Jan 6, 2020
    LOC1299312991Jan 6, 2020
    LOC1299956001Jan 6, 2020
    LOC1299983431Jan 6, 2020
    LOC1300048211Jan 6, 2020
    LOC1300655091Jan 6, 2020
    LOC1300655471Jan 6, 2020
    LPL1Jan 6, 2020
    LPO2Jan 6, 2020
    LTBP21Jan 6, 2020
    MEFV1Jan 6, 2020
    MMP91Jan 6, 2020
    MPL1Jan 6, 2020
    MPO3Jan 6, 2020
    MYH31Jan 6, 2020
    MYOC2Jan 6, 2020
    NANOS11Jan 6, 2020
    NCAPH21Jan 6, 2020
    NCF11Jan 6, 2020
    NOBOX1Jan 6, 2020
    NPHP3-ACAD111Jan 6, 2020
    NPHS12Jan 6, 2020
    NTF41Jan 6, 2020
    OCA21Jan 6, 2020
    OPLAH1Jan 6, 2020
    OTOF1Jan 6, 2020
    PADI32Jan 6, 2020
    PAH1Jan 6, 2020
    PDE11A1Jan 6, 2020
    PGAM21Jan 6, 2020
    PGAP31Jan 6, 2020
    PHF31Jan 6, 2020
    PIBF11Jan 6, 2020
    PIK3R51Jan 6, 2020
    PKD11Jan 6, 2020
    PKHD11Jan 6, 2020
    PKLR1Jan 6, 2020
    PLA2G72Jan 6, 2020
    PLG1Jan 6, 2020
    PMM21Jan 6, 2020
    POLH1Jan 6, 2020
    POLR1C1Jan 6, 2020
    POLR1G1Jan 6, 2020
    PPOX1Jan 6, 2020
    PPT11Jan 6, 2020
    PRIMPOL1Jan 6, 2020
    PRLR1Jan 6, 2020
    PUS31Jan 6, 2020
    RBM8A1Jan 6, 2020
    RMRP1Jan 6, 2020
    RNASEL1Jan 6, 2020
    RUSF11Jan 6, 2020
    SBDS1Jan 6, 2020
    SCO21Jan 6, 2020
    SERPINA11Jan 6, 2020
    SERPINA61Jan 6, 2020
    SERPINB71Jan 6, 2020
    SERPINB81Jan 6, 2020
    SHOX2Jan 6, 2020
    SLC17A51Jan 6, 2020
    SLC26A21Jan 6, 2020
    SLC26A31Jan 6, 2020
    SLC34A11Jan 6, 2020
    SLC34A31Jan 6, 2020
    SLC36A21Jan 6, 2020
    SLC38A81Jan 6, 2020
    SLC3A12Jan 6, 2020
    SLC4A11Jan 6, 2020
    SLC5A21Jan 6, 2020
    SLC7A142Jan 6, 2020
    SLC7A14-AS12Jan 6, 2020
    SLC7A91Jan 6, 2020
    SMN11Apr 13, 2020
    SOHLH11Jan 6, 2020
    SPATA221Jan 6, 2020
    SPINK51Jan 6, 2020
    SPRY41Jan 6, 2020
    SRD5A21Jan 6, 2020
    STOX11Jan 6, 2020
    TBXAS11Jan 6, 2020
    TMEM2161Jan 6, 2020
    TNXB1Jan 6, 2020
    TREH1Jan 6, 2020
    TSFM1Jan 6, 2020
    TTR1Jan 6, 2020
    TYMP1Jan 6, 2020
    TYR2Jan 6, 2020
    UBA51Jan 6, 2020
    UBQLN21Jan 6, 2020
    VPS13B1Jan 6, 2020
    VWF1Jan 6, 2020
    WARS21Jan 6, 2020
    WARS2-AS11Jan 6, 2020
    WFS11Jan 6, 2020
    WNT10A1Jan 6, 2020
    XPC1Jan 6, 2020
    XYLT11Jan 6, 2020
    ZC3H141Jan 6, 2020
    ZEB12Jan 6, 2020
    ZFPM21Jan 6, 2020
    ZFPM2-AS11Jan 6, 2020
    ZNF4691Jan 6, 2020

    Condition

    NameSubmissionsLast Updated
    21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia2Jan 6, 2020
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Jan 6, 2020
    5-Oxoprolinase deficiency1Jan 6, 2020
    Abnormal brain morphology1Jan 6, 2020
    Abnormal heart morphology1Jan 6, 2020
    Acanthocytosis1Jan 6, 2020
    Achromatopsia 21Jan 6, 2020
    Adult polyglucosan body disease1Jan 6, 2020
    Age related macular degeneration 111Jan 6, 2020
    Al-Raqad syndrome1Jan 6, 2020
    Alpha-1-antitrypsin deficiency1Jan 6, 2020
    Amyloidosis, hereditary systemic 11Jan 6, 2020
    Amyotrophic lateral sclerosis type 151Jan 6, 2020
    Anterior segment dysgenesis 31Jan 6, 2020
    Aspartylglucosaminuria1Jan 6, 2020
    Asphyxiating thoracic dystrophy 31Jan 6, 2020
    Ataxia with oculomotor apraxia type 31Jan 6, 2020
    Atelosteogenesis type II1Jan 6, 2020
    Atrial septal defect 91Jan 6, 2020
    Autosomal recessive hypophosphatemic bone disease1Jan 6, 2020
    Autosomal recessive inherited pseudoxanthoma elasticum7Jan 6, 2020
    Autosomal recessive polycystic kidney disease1Jan 6, 2020
    Autosomal recessive spinocerebellar ataxia 101Jan 6, 2020
    CONE-ROD DYSTROPHY, AIPL1-RELATED1Jan 6, 2020
    Carnitine palmitoyltransferase II deficiency1Jan 6, 2020
    Cataract 39 multiple types1Jan 6, 2020
    Cerebrooculofacioskeletal syndrome 41Jan 6, 2020
    Cirrhosis, cryptogenic1Jan 6, 2020
    Cohen syndrome1Jan 6, 2020
    Complement component 2 deficiency1Jan 6, 2020
    Complement component 9 deficiency1Jan 6, 2020
    Congenital amegakaryocytic thrombocytopenia1Jan 6, 2020
    Congenital disorder of glycosylation1Jan 6, 2020
    Congenital heart disease8Jan 6, 2020
    Congenital hypothyroidism1Jan 6, 2020
    Congenital lactase deficiency1Jan 6, 2020
    Congenital prothrombin deficiency1Jan 6, 2020
    Congenital secretory diarrhea, chloride type1Jan 6, 2020
    Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1Jan 6, 2020
    Corneal dystrophy, Fuchs endothelial, 62Jan 6, 2020
    Corneal dystrophy, Fuchs endothelial, 81Jan 6, 2020
    Corticosteroid-binding globulin deficiency1Jan 6, 2020
    Cystinuria3Jan 6, 2020
    Deficiency of butyryl-CoA dehydrogenase2Jan 6, 2020
    Deficiency of butyrylcholinesterase1Jan 6, 2020
    Desbuquois dysplasia 21Jan 6, 2020
    Developmental and epileptic encephalopathy, 441Jan 6, 2020
    Diabetes mellitus, noninsulin-dependent, association with1Jan 6, 2020
    Diaphragmatic hernia 31Jan 6, 2020
    Dias-Logan syndrome1Jan 6, 2020
    Ehlers-Danlos syndrome, type 31Jan 6, 2020
    Epilepsy1Jan 6, 2020
    Familial Mediterranean fever1Jan 6, 2020
    Familial apolipoprotein C-II deficiency2Jan 6, 2020
    Familial dysautonomia1Jan 6, 2020
    Familial hyperinsulinism1Jan 6, 2020
    Familial renal glucosuria1Jan 6, 2020
    Familial type 3 hyperlipoproteinemia1Jan 6, 2020
    Fanconi anemia1Jan 6, 2020
    Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31Jan 6, 2020
    Finnish congenital nephrotic syndrome2Jan 6, 2020
    Focal segmental glomerulosclerosis 91Jan 6, 2020
    Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1Jan 6, 2020
    Fructose-biphosphatase deficiency1Jan 6, 2020
    G6PD deficiency4Jan 6, 2020
    GNE myopathy1Jan 6, 2020
    Generalized pustular psoriasis1Jan 6, 2020
    Ghosal hematodiaphyseal dysplasia1Jan 6, 2020
    Glaucoma 1, open angle, A2Jan 6, 2020
    Glaucoma 1, open angle, O1Jan 6, 2020
    Glutaric aciduria, type 11Jan 6, 2020
    Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Jan 6, 2020
    Glycogen storage disease type X1Jan 6, 2020
    Glycogen storage disease, type II1Jan 6, 2020
    Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11Jan 6, 2020
    Hereditary factor XI deficiency disease2Jan 6, 2020
    Hydrolethalus syndrome1Jan 6, 2020
    Hypercalcemia, infantile, 21Jan 6, 2020
    Hypercholesterolemia, familial, 41Jan 6, 2020
    Hyperglycinuria1Jan 6, 2020
    Hyperlipidemia due to hepatic triglyceride lipase deficiency1Jan 6, 2020
    Hyperlipidemia, familial combined, LPL related1Jan 6, 2020
    Hyperlipoproteinemia, type 1D1Jan 6, 2020
    Hyperphosphatasia with intellectual disability syndrome 41Jan 6, 2020
    Hypogonadotropic hypogonadism 17 with or without anosmia1Jan 6, 2020
    Hypogonadotropic hypogonadism 7 with or without anosmia2Jan 6, 2020
    Hypophosphatasia1Jan 6, 2020
    Ichthyosis vulgaris5Jan 6, 2020
    Immunodeficiency due to a late component of complement deficiency1Jan 6, 2020
    Immunodeficiency due to ficolin3 deficiency1Jan 6, 2020
    Intellectual disability, autosomal recessive 341Jan 6, 2020
    Intellectual disability, autosomal recessive 561Jan 6, 2020
    Joubert syndrome2Jan 6, 2020
    Joubert syndrome 21Jan 6, 2020
    Keratoconus1Jan 6, 2020
    Lethal congenital contracture syndrome 11Jan 6, 2020
    Lopes-Maciel-Rodan syndrome1Jan 6, 2020
    Maple syrup urine disease1Jan 6, 2020
    Maturity-onset diabetes of the young type 111Jan 6, 2020
    Medium-chain acyl-coenzyme A dehydrogenase deficiency1Jan 6, 2020
    Metaphyseal anadysplasia 21Jan 6, 2020
    Metaphyseal dysplasia without hypotrichosis1Jan 6, 2020
    Miyoshi muscular dystrophy 31Jan 6, 2020
    Multiple fibroadenoma of the breast1Jan 6, 2020
    Myeloperoxidase deficiency3Jan 6, 2020
    Myopia 22, autosomal dominant1Jan 6, 2020
    Nephronophthisis 161Jan 6, 2020
    Netherton syndrome1Jan 6, 2020
    Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1Jan 6, 2020
    Neuronal ceroid lipofuscinosis 11Jan 6, 2020
    Nonsyndromic genetic hearing loss1Jan 6, 2020
    Oculocutaneous albinism type 1A2Jan 6, 2020
    Okt4 epitope deficiency1Jan 6, 2020
    Osteogenesis imperfecta type 111Jan 6, 2020
    Ovarian dysgenesis 11Jan 6, 2020
    Palmoplantar keratoderma, Nagashima type1Jan 6, 2020
    Peeling skin syndrome 51Jan 6, 2020
    Phenylketonuria1Jan 6, 2020
    Pigmented nodular adrenocortical disease, primary, 21Jan 6, 2020
    Plasminogen deficiency, type I1Jan 6, 2020
    Platelet-activating factor acetylhydrolase deficiency2Jan 6, 2020
    Platelet-type bleeding disorder 104Jan 6, 2020
    Polycystic kidney disease, adult type1Jan 6, 2020
    Preeclampsia/eclampsia 41Jan 6, 2020
    Prekallikrein deficiency1Jan 6, 2020
    Premature ovarian failure 51Jan 6, 2020
    Primary dilated cardiomyopathy1Jan 6, 2020
    Primary hyperoxaluria type 31Jan 6, 2020
    Prostate cancer1Jan 6, 2020
    Pseudoexfoliation glaucoma1Jan 6, 2020
    Pyruvate dehydrogenase E3 deficiency1Jan 6, 2020
    Pyruvate kinase hyperactivity1Jan 6, 2020
    Radial aplasia-thrombocytopenia syndrome1Jan 6, 2020
    Retinitis pigmentosa 253Jan 6, 2020
    Retinitis pigmentosa 591Jan 6, 2020
    Retinitis pigmentosa 682Jan 6, 2020
    Retinitis pigmentosa 691Jan 6, 2020
    SHOX-related short stature2Jan 6, 2020
    SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE2Jan 6, 2020
    Salla disease1Jan 6, 2020
    Severe early-childhood-onset retinal dystrophy2Jan 6, 2020
    Short-rib thoracic dysplasia 8 with or without polydactyly1Jan 6, 2020
    Shwachman-Diamond syndrome 11Jan 6, 2020
    Smith-Lemli-Opitz syndrome1Jan 6, 2020
    Spermatogenic Failure1Jan 6, 2020
    Spermatogenic failure 111Jan 6, 2020
    Spermatogenic failure 121Jan 6, 2020
    Spinal muscular atrophy1Apr 13, 2020
    Spongy degeneration of central nervous system1Jan 6, 2020
    Tay-Sachs disease1Jan 6, 2020
    Thrombotic thrombocytopenic purpura1Jan 6, 2020
    Thyroglobulin synthesis defect1Jan 6, 2020
    Thyroid dyshormonogenesis 61Jan 6, 2020
    Tooth agenesis, selective, 41Jan 6, 2020
    Tooth agenesis, selective, X-linked, 11Jan 6, 2020
    Tyrosinase-positive oculocutaneous albinism1Jan 6, 2020
    Uncombable hair syndrome 12Jan 6, 2020
    Usher syndrome type 31Jan 6, 2020
    Van Maldergem syndrome 11Jan 6, 2020
    Variegate porphyria1Jan 6, 2020
    Ventriculomegaly-cystic kidney disease1Jan 6, 2020
    Walker-Warburg congenital muscular dystrophy1Jan 6, 2020
    Warsaw breakage syndrome1Jan 6, 2020
    Wilson disease1Jan 6, 2020
    Xeroderma pigmentosum group B1Jan 6, 2020
    Xeroderma pigmentosum variant type1Jan 6, 2020
    Xeroderma pigmentosum, group C1Jan 6, 2020
    Xeroderma pigmentosum, group D1Jan 6, 2020
    alpha, alpha-Trehalase deficiency1Jan 6, 2020
    beta Thalassemia2Jan 6, 2020
    delta Thalassemia1Jan 6, 2020
    von Willebrand disease type 11Jan 6, 2020