ClinVar Miner

Variants from Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital

Location: China  Primary collection method: case-control
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
13 5 9 0 1 28

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CC2D2A 2 0 0 0 2
NFIX 1 1 0 0 2
TPP1 1 1 0 0 2
TSEN2 1 1 0 0 2
ARID1B 1 0 0 0 1
BRAF 1 0 0 0 1
BRWD3 1 0 0 0 1
CHD2 1 0 0 0 1
CLIC2 0 0 1 0 1
DLG3 0 0 0 1 1
DSCAML1 0 0 1 0 1
FOXO4 0 0 1 0 1
HCFC1 0 0 1 0 1
HSPG2 0 0 1 0 1
KAT6A 0 1 0 0 1
KDM5C 1 0 0 0 1
KLHL15 0 0 1 0 1
MAF, WWOX 0 1 0 0 1
MECP2 1 0 0 0 1
MIP 1 0 0 0 1
OGT 0 0 1 0 1
TCF4 0 0 1 0 1
TREX2 0 0 1 0 1
WWOX 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance benign total
Intellectual disability 0 0 3 0 3
Malan overgrowth syndrome 1 1 0 0 2
Meckel-Gruber syndrome 2 0 0 0 2
Neuronal ceroid lipofuscinosis 2 1 1 0 0 2
Pontocerebellar hypoplasia type 2B 1 1 0 0 2
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 1
Cardio-facio-cutaneous syndrome 1 0 0 0 1
Cataract 15 multiple types 1 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 1
Developmental and epileptic encephalopathy, 28 0 1 0 0 1
Intellectual disability, X-linked 103 0 0 1 0 1
Intellectual disability, X-linked 106 0 0 1 0 1
Intellectual disability, X-linked 90 0 0 0 1 1
Intellectual disability, X-linked 93 1 0 0 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 0 1 0 1
Myoclonic-astatic epilepsy 1 0 0 0 1
Neurodevelopmental disorders 1 0 0 0 1
Pitt-Hopkins syndrome 0 0 1 0 1
Rett syndrome 1 0 0 0 1
Schwartz-Jampel syndrome 0 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 1
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 0 0 1 0 1

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