"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573554	NM_006772.3(SYNGAP1):c.387+8G>A	SYNGAP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2637780	NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile)	SYNGAP1, SYNGAP1-AS1 (V320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682458	NM_006772.3(SYNGAP1):c.1559C>T (p.Ser520Phe)	SYNGAP1, SYNGAP1-AS1 (S520F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 589238	NM_006772.3(SYNGAP1):c.1677-4C>G	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 928481	NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln)	SYNGAP1, SYNGAP1-AS1 (R742Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2682457	NM_006772.3(SYNGAP1):c.2336+7G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 2165090	NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)	SYNGAP1, SYNGAP1-AS1 (H931Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2581493	NM_006772.3(SYNGAP1):c.2961C>T (p.Asp987=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2445726	NM_006772.3(SYNGAP1):c.3002T>C (p.Leu1001Pro)	SYNGAP1, SYNGAP1-AS1 (L1001P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 703733	NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser)	SYNGAP1, SYNGAP1-AS1 (G1044S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1387403	NM_006772.3(SYNGAP1):c.3583-3C>T	SYNGAP1-AS1, SYNGAP1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2637751	NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter)	SYNGAP1, SYNGAP1-AS1 (Q1236* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 5	GPathogenic