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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNMA1
(R1128W +9 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNMA1-AS1, KCNMA1
(N995S +9 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+1 more
GPathogenic