"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SYNGAP1-AS1"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 537002	NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr)	SYNGAP1, SYNGAP1-AS1 (A438T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 240704	NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=)	SYNGAP1-AS1, SYNGAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 469148	NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val)	SYNGAP1, SYNGAP1-AS1 (I630V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	See cases +15 more	GPathogenic/Likely pathogenic
Select item 444679	NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe)	SYNGAP1, SYNGAP1-AS1 (S955F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1345070	NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3])	SYNGAP1, SYNGAP1-AS1	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 225077	NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)	SYNGAP1, SYNGAP1-AS1 (R1240* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +2 more	GPathogenic

ClinVar