ClinVar Miner

Variants from Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University

Location: China  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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 total
20 17 10 0 0 47

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ACADM 0 2 0 2
AFG2A 0 2 0 2
CPLANE1 0 0 2 2
LOC129930446, MMACHC 2 0 0 2
LRP2 0 0 2 2
MECP2 2 0 0 2
PDE10A 0 2 0 2
PTEN 2 0 0 2
RUSC2 0 0 2 2
ADSL 0 1 0 1
ARX 0 0 1 1
ATP1A3 0 1 0 1
BIVM-ERCC5, ERCC5 0 1 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 0 1 1
CUL4B 1 0 0 1
DDX3X 1 0 0 1
DLL1 1 0 0 1
EEF1A2 1 0 0 1
FOXP1, LOC126806714 1 0 0 1
GRIA3 0 0 1 1
GRIN2A 0 1 0 1
H3-3A 1 0 0 1
HUWE1 0 0 1 1
IDS, LOC106050102 1 0 0 1
LOC129935026, TBR1 1 0 0 1
NIPBL 0 1 0 1
PRKN 1 0 0 1
RAD51 0 1 0 1
RYR1 0 1 0 1
SATB2 1 0 0 1
SETBP1 0 1 0 1
SMARCA2 1 0 0 1
SPAST 0 1 0 1
SPTAN1 1 0 0 1
TBL1XR1 1 0 0 1
TBX2 0 1 0 1
TRMT1 1 0 0 1
WDR45 0 1 0 1

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance total
Cobalamin C disease 2 0 0 2
Donnai-Barrow syndrome 0 0 2 2
Infantile-onset generalized dyskinesia with orofacial involvement 0 2 0 2
Intellectual disability, autosomal recessive 61 0 0 2 2
Joubert syndrome 17 0 0 2 2
Macrocephaly-autism syndrome 2 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 2 0 2
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 2 0 2
Rett syndrome 2 0 0 2
Xeroderma pigmentosum, group G 0 1 1 2
Adenylosuccinate lyase deficiency 0 1 0 1
Autism, susceptibility to, 5 1 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 1
Blepharophimosis-impaired intellectual development syndrome 1 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 1 0 0 1
Central core myopathy 0 1 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 1
Cornelia de Lange syndrome 1 0 1 0 1
Developmental and epileptic encephalopathy 99 0 1 0 1
Developmental and epileptic encephalopathy, 5 1 0 0 1
Fanconi anemia complementation group R 0 1 0 1
Hereditary spastic paraplegia 4 0 1 0 1
Intellectual developmental disorder, autosomal recessive 68 1 0 0 1
Intellectual disability, X-linked 102 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 1
Intellectual disability, X-linked, with or without seizures, arx-related 0 0 1 1
Intellectual disability, autosomal dominant 29 0 1 0 1
Intellectual disability, autosomal dominant 38 1 0 0 1
Intellectual disability, autosomal dominant 41 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 1
Landau-Kleffner syndrome 0 1 0 1
Mucopolysaccharidosis, MPS-II 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 0 0 1
Syndromic X-linked intellectual disability 94 0 0 1 1
Vertebral anomalies and variable endocrine and T-cell dysfunction 0 1 0 1
X-linked intellectual disability Cabezas type 1 0 0 1

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