ClinVar Miner

Variants from Department of Neurology, Xijing Hospital, Fourth Military Medical 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
1 3 39 0 0 43

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL6A3 0 0 14 14
CACNA1B 0 0 3 3
KMT2B 0 0 3 3
CASD1, SGCE 0 0 2 2
DCTN1 0 1 1 2
LOC129934069, SPR 0 1 1 2
LOC130065345, PANK2 0 0 2 2
PLA2G6 1 0 1 2
ADCY5 0 0 1 1
ATM, C11orf65 0 0 1 1
ATP1A2 0 0 1 1
CACNA1B, LOC100133077 0 0 1 1
KCNA4 0 0 1 1
MIR6084, PINK1 0 0 1 1
NKX2-1, SFTA3 0 0 1 1
RAB12 0 0 1 1
TBC1D24 0 0 1 1
TH 0 1 0 1
THAP1 0 0 1 1
TUBB4A 0 0 1 1
WDR45 0 0 1 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance total
Dystonia 27 0 0 14 14
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 4 4
Dystonia 28, childhood-onset 0 0 3 3
Autosomal recessive Parkinson disease 14 1 0 1 2
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 1 1 2
Myoclonic dystonia 11 0 0 2 2
Perry syndrome 0 1 1 2
Pigmentary pallidal degeneration 0 0 2 2
Ataxia-telangiectasia syndrome 0 0 1 1
Autosomal recessive DOPA responsive dystonia 0 1 0 1
Autosomal recessive early-onset Parkinson disease 6 0 0 1 1
Brain-lung-thyroid syndrome 0 0 1 1
Developmental and epileptic encephalopathy 98 0 0 1 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 1
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 0 0 1 1
Neurodegeneration with brain iron accumulation 5 0 0 1 1
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 0 0 1 1
Torsion dystonia 4 0 0 1 1
Torsion dystonia 6 0 0 1 1
task-specific movement disorders 0 0 1 1

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