"Undiagnosed Diseases Network, NIH"[submitter] AND "SYNGAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522845	NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)	SYNGAP1, SYNGAP1-AS1 (R544*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 522008	NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs)	SYNGAP1, SYNGAP1-AS1 (T1140fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic