ClinVar Miner

Variants from Pediatrics, MediClubGeorgia

Location: Georgia  Primary collection method: clinical testing
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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
12 7 0 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic total
CHD2 0 3 3
CACNA1A 1 1 2
SCN2A 1 1 2
CACNA1A, LOC126862864 1 0 1
CDKL5 0 1 1
CLCN1 0 1 1
DNM1 1 0 1
LOC102724058, SCN1A 1 0 1
LOC126863256, WDR45 1 0 1
PCDH19 1 0 1
PMM2 1 0 1
RHOBTB2 1 0 1
SCN1A 1 0 1
SNHG14, UBE3A 1 0 1
SPTAN1 1 0 1

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic total
Developmental and epileptic encephalopathy 94 0 3 3
Developmental and epileptic encephalopathy, 11 1 1 2
Migraine, familial hemiplegic, 1 1 1 2
Angelman syndrome 1 0 1
Congenital myotonia, autosomal dominant form 0 1 1
Developmental and epileptic encephalopathy, 2 0 1 1
Developmental and epileptic encephalopathy, 31 1 0 1
Developmental and epileptic encephalopathy, 5 1 0 1
Developmental and epileptic encephalopathy, 64 1 0 1
Developmental and epileptic encephalopathy, 9 1 0 1
Episodic ataxia type 2 1 0 1
Focal impaired awareness seizure 1 0 1
Neurodegeneration with brain iron accumulation 5 1 0 1
PMM2-congenital disorder of glycosylation 1 0 1
Severe myoclonic epilepsy in infancy 1 0 1

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