"New York Genome Center"[submitter] AND "SYNGAP1-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184402	NM_006772.3(SYNGAP1):c.1118G>T (p.Gly373Val)	SYNGAP1-AS1, SYNGAP1 (G373V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 374457	NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)	SYNGAP1, SYNGAP1-AS1 (R429W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 863247	NM_006772.3(SYNGAP1):c.1286G>A (p.Arg429Gln)	SYNGAP1, SYNGAP1-AS1 (R429Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1696629	NM_006772.3(SYNGAP1):c.1586T>C (p.Ile529Thr)	SYNGAP1, SYNGAP1-AS1 (I529T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 983432	NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)	SYNGAP1, SYNGAP1-AS1 (N635S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1003706	NM_006772.3(SYNGAP1):c.1913+5G>A	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 5	GConflicting classifications of pathogenicity
Select item 536995	NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile)	SYNGAP1, SYNGAP1-AS1 (V866I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 1325573	NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser)	SYNGAP1, SYNGAP1-AS1 (G938S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GConflicting classifications of pathogenicity
Select item 1341927	NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro)	SYNGAP1, SYNGAP1-AS1 (S1118P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GUncertain significance
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
Select item 1679664	NM_006772.3(SYNGAP1):c.3835G>A (p.Ala1279Thr)	SYNGAP1, SYNGAP1-AS1 (A1263T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance