ClinVar Miner

Variants from Pediatric Department, Xiangya Hospital, Central South 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
47 26 26 0 0 99

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
STXBP1 12 3 0 15
CACNA1A 2 4 0 6
SCN1A 5 0 0 5
CDKL5 4 0 0 4
GTPBP3 1 3 0 4
HIBCH 0 0 4 4
CACNA1C 0 2 1 3
MT-ATP6 2 0 1 3
AARS2, POLR1C 0 0 2 2
CARS2 0 0 2 2
COQ4 0 0 2 2
ETFDH 0 0 2 2
GFM1 1 1 0 2
LIPT1, MITD1 0 0 2 2
LOC102724058, SCN1A 2 0 0 2
MECP2 2 0 0 2
MED13L 2 0 0 2
NAXE 0 0 2 2
POGZ 2 0 0 2
POLG, POLGARF 0 2 0 2
SCN2A 0 2 0 2
SI 0 1 1 2
SYNGAP1 1 1 0 2
ACAD9 0 1 0 1
ACAD9, CFAP92 0 1 0 1
ADNP 1 0 0 1
AIFM1, RAB33A 0 0 1 1
ASXL3 1 0 0 1
CHD2 1 0 0 1
CHRNB1 0 0 1 1
DCX 1 0 0 1
DNM1L 1 0 0 1
DYRK1A 1 0 0 1
HSD17B10 0 1 0 1
LOC130065433, NDUFAF5 0 1 0 1
MT-CO2 0 0 1 1
MT-ND1 0 1 0 1
MT-ND3 0 1 0 1
MT-ND4 1 0 0 1
MT-TL1 1 0 0 1
NDUFAF5 0 1 0 1
OPA3 0 0 1 1
PANK2 1 0 0 1
PDHB 0 0 1 1
SETBP1 1 0 0 1
SLC6A1 1 0 0 1
TWNK 0 0 1 1
WARS2 0 0 1 1

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance total
See cases 0 4 17 21
Developmental and epileptic encephalopathy, 4 12 3 0 15
Leigh syndrome 2 1 2 5
Severe myoclonic epilepsy in infancy 5 0 0 5
Developmental and epileptic encephalopathy, 2 4 0 0 4
Developmental and epileptic encephalopathy, 42 2 2 0 4
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 0 3 3
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1 2 0 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 2 1 3
Acyl-CoA dehydrogenase 9 deficiency 0 2 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2 0 0 2
Combined oxidative phosphorylation defect type 23 1 1 0 2
Developmental and epileptic encephalopathy, 11 0 2 0 2
Developmental and epileptic encephalopathy, 6 2 0 0 2
Episodic ataxia type 2 0 2 0 2
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 1 1 0 2
Intellectual disability, autosomal dominant 5 1 1 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 16 0 2 0 2
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 0 2 2
Rett syndrome 2 0 0 2
Sucrase-isomaltase deficiency 0 1 1 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 0 0 1
Intellectual disability, autosomal dominant 29 1 0 0 1
Leber optic atrophy 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 1
Myoclonic-astatic epilepsy 1 0 0 1
Pigmentary pallidal degeneration 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1

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