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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNMA1
(R517W +3 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+3 more
GUncertain significance
KCNMA1
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 16
+4 more
GBenign/Likely benign
KCNMA1
Single nucleotide variant
(intron variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+4 more
GLikely benign
KCNMA1
(V61A)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+5 more
GUncertain significance
KCNMA1
Microsatellite
(inframe_insertion)
Generalized epilepsy-paroxysmal dyskinesia syndrome
+4 more
GUncertain significance
KCNMA1
Indel
(inframe_indel)
not specified
+5 more
GUncertain significance
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