ClinVar Miner

Variants from The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University

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
40 12 1 0 1 54

Gene and significance breakdown #

Total genes and gene combinations: 30
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PAH 8 0 0 0 8
CREBBP 7 0 0 0 7
GALC 0 1 1 1 3
COG6 1 1 0 0 2
CPT2 0 2 0 0 2
IFNGR1 1 1 0 0 2
IL10RA 2 0 0 0 2
PCCA 2 0 0 0 2
PEX1 2 0 0 0 2
RRM2B 1 1 0 0 2
SLC25A20 2 0 0 0 2
TCIRG1 2 0 0 0 2
CD40LG 1 0 0 0 1
CHD7 1 0 0 0 1
CYBB 0 1 0 0 1
DUSP29, KAT6B 1 0 0 0 1
EARS2 1 0 0 0 1
FOXC2 1 0 0 0 1
GAA 1 0 0 0 1
GATA3 1 0 0 0 1
IL7R 1 0 0 0 1
KCNQ2 1 0 0 0 1
NIPBL 0 1 0 0 1
PAK3 0 1 0 0 1
PPP3CA 0 1 0 0 1
PREPL 1 0 0 0 1
SCN2A 0 1 0 0 1
SERAC1 1 0 0 0 1
SLC34A3 0 1 0 0 1
STXBP1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 30
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
Phenylketonuria 8 0 0 0 8
Rubinstein-Taybi syndrome 1 7 0 0 0 7
Galactosylceramide beta-galactosidase deficiency 0 1 1 1 3
Autosomal recessive osteopetrosis 1 2 0 0 0 2
Carnitine acylcarnitine translocase deficiency 2 0 0 0 2
Carnitine palmitoyltransferase II deficiency, lethal neonatal 0 2 0 0 2
Congenital disorder of glycosylation type 2L 1 1 0 0 2
Disseminated atypical mycobacterial infection 1 1 0 0 2
Inflammatory bowel disease 28, autosomal recessive 2 0 0 0 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy 1 1 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 2
Propionic acidemia 2 0 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 1
CHARGE association 1 0 0 0 1
Chronic granulomatous disease, X-linked 0 1 0 0 1
Combined oxidative phosphorylation deficiency 12 1 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 1
Distichiasis-lymphedema syndrome 1 0 0 0 1
Early infantile epileptic encephalopathy 11 0 1 0 0 1
Early infantile epileptic encephalopathy 4 1 0 0 0 1
Early infantile epileptic encephalopathy 7 1 0 0 0 1
Epileptic encephalopathy, infantile or early childhood 1 0 1 0 0 1
Glycogen storage disease, type II 1 0 0 0 1
Hypercalciuria 0 1 0 0 1
Hypoparathyroidism-deafness-renal disease syndrome 1 0 0 0 1
Mental retardation 30, X-linked 0 1 0 0 1
Myasthenic syndrome, congenital, 22 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1 0 0 0 1
X-linked hyper-IgM syndrome 1 0 0 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.