Beijing Key Laboratry for Genetics of Birth Defects (Beijing Children's Hospital)

General information

Beijing Key Laboratry for Genetics of Birth Defects
Beijing Children's Hospital
56 Nan-Li-Shi Road, Xicheng District
Beijing
Beijing
China - 100045

Organization ID: 507947

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 107

Gene

GeneSubmissionsLast Updated
ABCC91Jul 1, 2021
ACADM2Jul 1, 2021
ADA2Mar 6, 2021
ALMS11Jul 1, 2021
ANKS62Jul 1, 2021
ASL2Jul 1, 2021
ATP7B4Jul 1, 2021
BTK2Jul 1, 2021
CASZ11Jul 1, 2021
CCDC391Mar 6, 2021
CCNO2Mar 6, 2021
CD362Mar 6, 2021
CDCA7L1Mar 6, 2021
CFH1Jul 1, 2021
CLASP12Jul 1, 2021
CPT22Jul 1, 2021
CYBB3Mar 6, 2021
DNAAF12Mar 6, 2021
DNAH115Mar 6, 2021
DNAH54Mar 6, 2021
DPH12Mar 6, 2021
EIF2AK32Jul 1, 2021
ELANE2Mar 6, 2021
ELN1Jul 1, 2021
ELN-AS11Jul 1, 2021
ENG1Mar 6, 2021
FBN11Jul 1, 2021
FGFR31Mar 6, 2021
FLNA1Mar 6, 2021
FOXP31Mar 6, 2021
G6PC12Jul 1, 2021
GAA2Jul 1, 2021
GABRB21Jul 1, 2021
GPI2Jul 1, 2021
HMGCS22Jul 1, 2021
IFIH11Jul 1, 2021
IGHMBP21Jul 1, 2021
IL10RA2Jul 1, 2021
IL2RG1Mar 6, 2021
IL36RN1Jul 1, 2021
ITGB21Mar 6, 2021
KCNJ111Jul 1, 2021
KMT2D3Jul 1, 2021
KRAS1Jul 1, 2021
LPIN22Mar 6, 2021
LRBA2Mar 6, 2021
MAP2K11Jul 1, 2021
MCCC12Jul 1, 2021
MID11Jul 1, 2021
MMACHC2Jul 1, 2021
MPZ1Jul 1, 2021
ODAD32Mar 6, 2021
P4HB1Jul 1, 2021
PIK3CA1Mar 6, 2021
PIK3CD1Mar 6, 2021
PRF12Mar 6, 2021
RAG14Jul 1, 2021
RNU4ATAC2Jul 1, 2021
RYR12Jul 1, 2021
SCN1A1Jul 1, 2021
SCN2A1Jul 1, 2021
SCN5A1Jul 1, 2021
SDHB1Jul 1, 2021
SFTPC1Mar 6, 2021
SMARCB11Mar 6, 2021
STAT31Mar 6, 2021
TNNI31Jul 1, 2021
TP531Jul 1, 2021

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 1 deficiency2Jul 1, 2021
Achondroplasia1Mar 6, 2021
Aicardi-Goutieres syndrome 71Jul 1, 2021
Alstrom syndrome1Jul 1, 2021
Argininosuccinate lyase deficiency2Jul 1, 2021
Cardiofaciocutaneous syndrome 31Jul 1, 2021
Carnitine palmitoyltransferase II deficiency, infantile2Jul 1, 2021
Central core myopathy2Jul 1, 2021
Chronic granulomatous disease, X-linked3Mar 6, 2021
Ciliary dyskinesia, primary, 132Mar 6, 2021
Ciliary dyskinesia, primary, 141Mar 6, 2021
Ciliary dyskinesia, primary, 292Mar 6, 2021
Ciliary dyskinesia, primary, 34Mar 6, 2021
Ciliary dyskinesia, primary, 302Mar 6, 2021
Ciliary dyskinesia, primary, 75Mar 6, 2021
Cobalamin C disease2Jul 1, 2021
Cole-Carpenter syndrome 11Jul 1, 2021
Common variable immunodeficiency 8, with autoimmunity2Mar 6, 2021
Cowden syndrome 51Mar 6, 2021
Dejerine-Sottas disease1Jul 1, 2021
Developmental and epileptic encephalopathy 921Jul 1, 2021
Developmental delay with short stature, dysmorphic features, and sparse hair2Mar 6, 2021
Dilated cardiomyopathy 1FF1Jul 1, 2021
Factor H deficiency1Jul 1, 2021
Familial hemophagocytic lymphohistiocytosis 22Mar 6, 2021
Glioma susceptibility 11Jul 1, 2021
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Jul 1, 2021
Glycogen storage disease, type II2Jul 1, 2021
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2Jul 1, 2021
Hereditary hemorrhagic telangiectasia type 11Mar 6, 2021
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Mar 6, 2021
Hypertrichotic osteochondrodysplasia Cantu type1Jul 1, 2021
Immunodeficiency 141Mar 6, 2021
Inflammatory bowel disease 28, autosomal recessive2Jul 1, 2021
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Mar 6, 2021
Kabuki syndrome 13Jul 1, 2021
Leukocyte adhesion deficiency 11Mar 6, 2021
Majeed syndrome2Mar 6, 2021
Marfan syndrome1Jul 1, 2021
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Jul 1, 2021
Mental retardation, autosomal dominant 151Mar 6, 2021
Nephronophthisis 162Jul 1, 2021
Neutropenia, severe congenital 1, autosomal dominant2Mar 6, 2021
Noonan syndrome 31Jul 1, 2021
Opitz GBBB syndrome, type I1Jul 1, 2021
Periventricular nodular heterotopia 11Mar 6, 2021
Pheochromocytoma1Jul 1, 2021
Platelet glycoprotein IV deficiency2Mar 6, 2021
Primary dilated cardiomyopathy1Jul 1, 2021
Pustular psoriasis, generalized1Jul 1, 2021
Roifman syndrome2Jul 1, 2021
Seizures, benign familial infantile, 31Jul 1, 2021
Severe combined immunodeficiency due to ADA deficiency2Mar 6, 2021
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive4Jul 1, 2021
Severe myoclonic epilepsy in infancy1Jul 1, 2021
Sick sinus syndrome 1, autosomal recessive1Jul 1, 2021
Spinal muscular atrophy, distal, autosomal recessive, 11Jul 1, 2021
Supravalvar aortic stenosis1Jul 1, 2021
Surfactant metabolism dysfunction, pulmonary, 21Mar 6, 2021
Transient neonatal diabetes mellitus 31Jul 1, 2021
Wilson disease4Jul 1, 2021
Wolcott-Rallison dysplasia2Jul 1, 2021
X-linked agammaglobulinemia2Jul 1, 2021
X-linked severe combined immunodeficiency1Mar 6, 2021
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Jul 1, 2021
Support Center