"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987081	NM_006772.3(SYNGAP1):c.926del (p.Gly309fs)	SYNGAP1-AS1, SYNGAP1 (G309fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987236	NM_006772.3(SYNGAP1):c.1387-2del	MIR5004, SYNGAP1 +1 more	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1184873	NM_006772.3(SYNGAP1):c.1531+1del	SYNGAP1-AS1, SYNGAP1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 6393	NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)	SYNGAP1, SYNGAP1-AS1 (R579*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 987265	NM_006772.3(SYNGAP1):c.2974del (p.Val992fs)	SYNGAP1, SYNGAP1-AS1 (V978fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184918	NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)	SYNGAP1, SYNGAP1-AS1 (S1033fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic

ClinVar