ClinVar Miner

Variants from Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

Location: China  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
56 46 5 0 0 107

Gene and significance breakdown #

Total genes and gene combinations: 67
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
ATP7B 1 3 0 4
DNAH11 3 1 0 4
DNAH5 2 2 0 4
RAG1 3 1 0 4
CYBB 3 0 0 3
KMT2D 3 0 0 3
ACADM 1 1 0 2
ADA 2 0 0 2
ANKS6 0 2 0 2
ASL 0 1 1 2
BTK 2 0 0 2
CCNO, LOC129993895 2 0 0 2
CD36 0 2 0 2
CLASP1, RNU4ATAC 0 2 0 2
CPT2 0 1 1 2
DNAAF1 2 0 0 2
DPH1 0 2 0 2
EIF2AK3 1 1 0 2
ELANE 1 1 0 2
G6PC1 2 0 0 2
GAA 0 1 1 2
GPI 0 0 2 2
HMGCS2 0 2 0 2
IL10RA 1 1 0 2
LPIN2 2 0 0 2
LRBA 0 2 0 2
MCCC1 2 0 0 2
ODAD3 2 0 0 2
PRF1 0 2 0 2
RYR1 0 2 0 2
ABCC9 0 1 0 1
ALMS1 0 1 0 1
CASZ1 1 0 0 1
CCDC39 1 0 0 1
CDCA7L, DNAH11 1 0 0 1
CFH 0 1 0 1
ELN 1 0 0 1
ENG 1 0 0 1
FBN1 1 0 0 1
FGFR3 1 0 0 1
FLNA 1 0 0 1
FOXP3 1 0 0 1
GABRB2 1 0 0 1
IFIH1 0 1 0 1
IGHMBP2 1 0 0 1
IL2RG 0 1 0 1
IL36RN 0 1 0 1
ITGB2 1 0 0 1
KCNJ11 1 0 0 1
KRAS 1 0 0 1
LOC126863207, MID1 0 1 0 1
LOC129930446, MMACHC 1 0 0 1
MAP2K1 1 0 0 1
MMACHC 1 0 0 1
MPZ 0 1 0 1
P4HB 0 1 0 1
PIK3CA 0 1 0 1
PIK3CD 1 0 0 1
SCN1A 0 1 0 1
SCN2A 0 1 0 1
SCN5A 0 1 0 1
SDHB 1 0 0 1
SFTPC 1 0 0 1
SMARCB1 0 1 0 1
STAT3 0 1 0 1
TNNI3 0 1 0 1
TP53 1 0 0 1

Condition and significance breakdown #

Total conditions: 65
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Primary ciliary dyskinesia 7 4 1 0 5
Primary ciliary dyskinesia 3 2 2 0 4
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 3 1 0 4
Wilson disease 1 3 0 4
Granulomatous disease, chronic, X-linked 3 0 0 3
Kabuki syndrome 1 3 0 0 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 2 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 2 0 0 2
Argininosuccinate lyase deficiency 0 1 1 2
Carnitine palmitoyl transferase II deficiency, severe infantile form 0 1 1 2
Central core myopathy 0 2 0 2
Cobalamin C disease 2 0 0 2
Combined immunodeficiency due to LRBA deficiency 0 2 0 2
Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 2 0 2
Familial hemophagocytic lymphohistiocytosis 2 0 2 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 0 0 2
Glycogen storage disease, type II 0 1 1 2
Hemolytic anemia due to glucophosphate isomerase deficiency 0 0 2 2
Inflammatory bowel disease 28 1 1 0 2
Majeed syndrome 2 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1 0 2
Nephronophthisis 16 0 2 0 2
Neutropenia, severe congenital, 1, autosomal dominant 1 1 0 2
Platelet-type bleeding disorder 10 0 2 0 2
Primary ciliary dyskinesia 13 2 0 0 2
Primary ciliary dyskinesia 29 2 0 0 2
Primary ciliary dyskinesia 30 2 0 0 2
Roifman syndrome 0 2 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2 0 0 2
Wolcott-Rallison dysplasia 1 1 0 2
X-linked agammaglobulinemia 2 0 0 2
Achondroplasia 1 0 0 1
Aicardi-Goutieres syndrome 7 0 1 0 1
Alstrom syndrome 0 1 0 1
Autosomal recessive distal spinal muscular atrophy 1 1 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 1
Cole-Carpenter syndrome 1 0 1 0 1
Cowden syndrome 5 0 1 0 1
Dejerine-Sottas disease 0 1 0 1
Diabetes mellitus, transient neonatal, 3 1 0 0 1
Dilated cardiomyopathy 1FF 0 1 0 1
Epileptic encephalopathy, infantile or early childhood, 2 1 0 0 1
Factor H deficiency 0 1 0 1
Generalized pustular psoriasis 0 1 0 1
Glioma susceptibility 1 1 0 0 1
Heterotopia, periventricular, X-linked dominant 1 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 1 0 1
Hypertrichotic osteochondrodysplasia Cantu type 0 1 0 1
Immunodeficiency 14 1 0 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 1 0 0 1
Intellectual disability, autosomal dominant 15 0 1 0 1
Leukocyte adhesion deficiency 1 1 0 0 1
Marfan syndrome 1 0 0 1
Noonan syndrome 3 1 0 0 1
Pheochromocytoma 1 0 0 1
Primary ciliary dyskinesia 14 1 0 0 1
Primary dilated cardiomyopathy 1 0 0 1
Seizures, benign familial infantile, 3 0 1 0 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Sick sinus syndrome 1 0 1 0 1
Supravalvar aortic stenosis 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 1
X-linked Opitz G/BBB syndrome 0 1 0 1
X-linked severe combined immunodeficiency 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.