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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNGAP1, SYNGAP1-AS1
(R544*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SYNGAP1, SYNGAP1-AS1
(T1140fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic