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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A1, SLC6A1-AS1
(G63S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC6A1, SLC6A1-AS1
(L73P)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1, SLC6A1-AS1
(Y86H)
Single nucleotide variant
(missense variant +2 more)
Myoclonic-astatic epilepsy
GLikely pathogenic
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