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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNGAP1, SYNGAP1-AS1
(R967* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SYNGAP1, SYNGAP1-AS1
(G1047fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SYNGAP1, SYNGAP1-AS1
(K1058fs +1 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic
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