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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNGAP1, SYNGAP1-AS1
(K642T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 5
GLikely pathogenic
SYNGAP1, SYNGAP1-AS1
(V846fs +1 more)
Microsatellite
(frameshift variant)
Intellectual disability, autosomal dominant 5
GPathogenic