Variants from Channelopathy-Associated Epilepsy Research Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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	not provided	total
0	0	0	0	0	293	293

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	not provided	total
KCNQ2	84	84
SCN2A	63	63
LOC102724058, SCN1A	58	58
SCN1A	37	37
SCN8A	33	33
SCN3A	18	18

Condition and significance breakdown #

Total conditions: 4

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Condition	not provided	total
Complex neurodevelopmental disorder	178	178
not provided	95	95
Severe myoclonic epilepsy in infancy	73	73
Developmental and epileptic encephalopathy	18	18

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