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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GOSR2, LOC126862578
+1 more
(I23V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GOSR2, LOC126862578
+1 more
(R69Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GOSR2, LOC126862578
+1 more
(V76I +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
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