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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A1
(S117L +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(N240H +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance