ClinVar Miner

Variants from Neurogenetics Laboratory - MEYER,AOU Meyer

Location: Italy — 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
28 26 15 0 0 69

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SCN2A 3 6 0 9
KCNQ2 3 3 1 7
SCN8A 2 3 1 6
STXBP1 5 0 0 5
CDKL5 4 0 0 4
GRIN2A 0 0 4 4
KCNT1 0 2 2 4
LOC102724058, SCN1A 3 1 0 4
MECP2 2 2 0 4
SCN1A 3 1 0 4
GABRB3 0 2 0 2
GRIN2B 0 0 2 2
HCN1 0 2 0 2
SNHG14, UBE3A 1 1 0 2
SPTAN1 1 1 0 2
SYNGAP1 0 2 0 2
ATP1A2 0 0 1 1
CACNA1H 0 0 1 1
CDKL5, RS1 0 0 1 1
DEPDC5 0 0 1 1
GABRD 0 0 1 1
LOC114827831, STXBP1 1 0 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance total
Epileptic encephalopathy 20 15 9 44
Focal epilepsy 1 4 3 8
Severe myoclonic epilepsy in infancy 4 2 0 6
Malignant migrating partial seizures of infancy 1 2 0 3
Angelman syndrome 1 1 0 2
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 2 2
Rett syndrome 1 1 0 2
Continuous spike and waves during slow-wave sleep syndrome 0 0 1 1
Mental retardation, autosomal dominant 5 0 1 0 1

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