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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNMA1, KCNMA1-AS1
(K833R +7 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+3 more
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cerebellar atrophy, developmental delay, and seizures
+3 more
GUncertain significance
KCNMA1, KCNMA1-AS1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+5 more
GBenign/Likely benign
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