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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GOSR2, LOC126862578
+1 more
(R49Q +2 more)
Indel
(missense variant +1 more)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
GOSR2, LOC126862578
+1 more
(R67K +2 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, progressive, X-linked
+5 more
GBenign