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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCAMP5
(R91W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCAMP5
(G180W)
Single nucleotide variant
(missense variant +1 more)
SCAMP5-related neurodevelopmental disorder with autistic features and seizures
+4 more
GPathogenic/Likely pathogenic