ClinVar Miner

Variants from Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital

Location: China — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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 affects total
34 34 21 1 0 1 91

Gene and significance breakdown #

Total genes and gene combinations: 63
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign affects total
SLC25A13 2 1 3 0 0 6
ANOS1 1 3 0 0 0 4
KMT2D 2 1 0 1 0 4
SRD5A2 3 1 0 0 0 4
STK11 0 3 0 0 0 3
CHD7 1 1 0 0 0 2
COL18A1 1 1 0 0 0 2
COMP 0 1 1 0 0 2
CYP11A1 0 1 1 0 0 2
CYP21A2, LOC106780800 2 0 0 0 0 2
NBAS 1 0 1 0 0 2
OTC 1 1 0 0 0 2
SACS 0 0 2 0 0 2
SLC22A5 1 1 0 0 0 2
SLC2A2 1 0 0 0 1 2
THRB 1 1 0 0 0 2
TRPM6 1 1 0 0 0 2
AAAS 0 0 1 0 0 1
ABCD1 0 0 1 0 0 1
ACAN 0 0 1 0 0 1
ACAT1 0 1 0 0 0 1
ADAMTS10 1 0 0 0 0 1
AR 0 1 0 0 0 1
BBS7 0 1 0 0 0 1
BBS9 1 0 0 0 0 1
CASK 1 0 0 0 0 1
CBX2 0 0 1 0 0 1
COL1A1 1 0 0 0 0 1
COL1A2 0 1 0 0 0 1
CPLANE1 0 1 0 0 0 1
CREBBP 0 1 0 0 0 1
CYP27B1 1 0 0 0 0 1
DHH 0 1 0 0 0 1
DMRT1 0 1 0 0 0 1
FGFR1 0 0 1 0 0 1
FOXP3 0 1 0 0 0 1
GCDH 1 0 0 0 0 1
GCK 1 0 0 0 0 1
GLI2 0 0 1 0 0 1
HLCS 0 1 0 0 0 1
HSD17B10 0 1 0 0 0 1
KCNJ11 1 0 0 0 0 1
KMT2A 1 0 0 0 0 1
MAMLD1 1 0 0 0 0 1
MAP3K1 0 1 0 0 0 1
NDUFS3 0 0 1 0 0 1
NF1 0 0 1 0 0 1
NR0B1 0 1 0 0 0 1
NR5A1 0 1 0 0 0 1
PCCB 1 0 0 0 0 1
PHF6 0 0 1 0 0 1
POLG 0 1 0 0 0 1
PROKR2 0 1 0 0 0 1
PRRT2 1 0 0 0 0 1
RAI1 0 0 1 0 0 1
RYR1 0 0 1 0 0 1
SLC12A3 1 0 0 0 0 1
SLC34A1 1 0 0 0 0 1
SMAD4 0 0 1 0 0 1
SNHG14, UBE3A 1 0 0 0 0 1
SOS1 0 0 1 0 0 1
SRY 0 1 0 0 0 1
VPS33B 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 63
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Condition pathogenic likely pathogenic uncertain significance likely benign affects total
Neonatal intrahepatic cholestasis caused by citrin deficiency 2 1 3 0 0 6
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 3 1 0 0 0 4
Kabuki syndrome 1 2 1 0 1 0 4
Kallmann syndrome 1 1 3 0 0 0 4
Peutz-Jeghers syndrome 0 3 0 0 0 3
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 0 1 1 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 0 0 2
Diabetes mellitus type 2 1 0 0 0 1 2
Hypomagnesemia 1, intestinal 1 1 0 0 0 2
Kallmann syndrome 5 1 1 0 0 0 2
Knobloch syndrome 1 1 1 0 0 0 2
Multiple epiphyseal dysplasia 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 1 1 0 0 2
Ornithine carbamoyltransferase deficiency 1 1 0 0 0 2
Renal carnitine transport defect 1 1 0 0 0 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly 1 0 1 0 0 2
Spastic ataxia Charlevoix-Saguenay type 0 0 2 0 0 2
Thyroid hormone resistance, generalized, autosomal dominant 1 1 0 0 0 2
2-methyl-3-hydroxybutyric aciduria 0 1 0 0 0 1
46,XY sex reversal, type 1 0 1 0 0 0 1
46,XY sex reversal, type 3 0 1 0 0 0 1
46,XY sex reversal, type 4 0 1 0 0 0 1
46,XY sex reversal, type 5 0 0 1 0 0 1
46,XY sex reversal, type 6 0 1 0 0 0 1
46,XY sex reversal, type 7 0 1 0 0 0 1
Adrenoleukodystrophy 0 0 1 0 0 1
Androgen resistance syndrome 0 1 0 0 0 1
Angelman syndrome 1 0 0 0 0 1
Arthrogryposis renal dysfunction cholestasis syndrome 1 0 0 0 0 1
Bardet-Biedl syndrome 7 0 1 0 0 0 1
Bardet-Biedl syndrome 9 1 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 0 1 0 0 1
Congenital adrenal hypoplasia, X-linked 0 1 0 0 0 1
Culler-Jones syndrome 0 0 1 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Diabetes mellitus type 1 0 1 0 0 0 1
Diabetes mellitus type 2; Maturity-onset diabetes of the young, type 13 1 0 0 0 0 1
Dystonia 10 1 0 0 0 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 0 1
Glucocorticoid deficiency with achalasia 0 0 1 0 0 1
Glutaric aciduria, type 1 1 0 0 0 0 1
Holocarboxylase synthetase deficiency 0 1 0 0 0 1
Hypospadias 2, X-linked 1 0 0 0 0 1
Kallmann syndrome 2 0 0 1 0 0 1
Kallmann syndrome 3 0 1 0 0 0 1
Maturity-onset diabetes of the young, type 2 1 0 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 0 1
Mitochondrial complex I deficiency; Leigh syndrome 0 0 1 0 0 1
Myhre syndrome 0 0 1 0 0 1
Myopathy, Central Core 0 0 1 0 0 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 1 0 0 0 0 1
Neurofibromatosis, type 1 0 0 1 0 0 1
Noonan syndrome 4 0 0 1 0 0 1
Orofaciodigital syndrome 6; Joubert syndrome 17 0 1 0 0 0 1
Osteochondritis dissecans; Spondyloepiphyseal dysplasia, kimberley type 0 0 1 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 0 1 0 0 0 1
Propionyl-CoA carboxylase deficiency 1 0 0 0 0 1
Rubinstein-Taybi syndrome 1 0 1 0 0 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 1 0 0 0 1
Smith-Magenis syndrome 0 0 1 0 0 1
Vitamin D-dependent rickets, type 1 1 0 0 0 0 1
Weill-Marchesani syndrome 1 1 0 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1

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