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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNGAP1, SYNGAP1-AS1
(G391fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SYNGAP1, SYNGAP1-AS1
(R967* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 5
+1 more
GPathogenic