"Baylor Genetics"[submitter] AND "SYNGAP1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029086	NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser)	SYNGAP1 (G43S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1031674	NM_006772.3(SYNGAP1):c.265C>G (p.Pro89Ala)	SYNGAP1 (P89A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 373327	NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)	SYNGAP1 (R164*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +1 more	GPathogenic/Likely pathogenic
Select item 1030154	NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs)	SYNGAP1 (F218fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 1031675	NM_006772.3(SYNGAP1):c.745G>A (p.Ala249Thr)	SYNGAP1 (A249T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 411566	NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)	SYNGAP1, SYNGAP1-AS1 (G391fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1029087	NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala)	SYNGAP1, SYNGAP1-AS1 (E519A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
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 1029088	NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)	SYNGAP1, SYNGAP1-AS1 (R575H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 130525	NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)	SYNGAP1, SYNGAP1-AS1 (L595fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 411589	NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)	SYNGAP1, SYNGAP1-AS1 (R621*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 5 +2 more	GPathogenic
Select item 858973	NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)	SYNGAP1, SYNGAP1-AS1 (L633P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GPathogenic/Likely pathogenic
Select item 436925	NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)	SYNGAP1-AS1, SYNGAP1 (R736C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 1029089	NM_006772.3(SYNGAP1):c.2393C>T (p.Pro798Leu)	SYNGAP1, SYNGAP1-AS1 (P784L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 6394	NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs)	SYNGAP1, SYNGAP1-AS1 (L799fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 561122	NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs)	SYNGAP1-AS1, SYNGAP1 (L855fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GPathogenic
Select item 1029090	NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg)	SYNGAP1, SYNGAP1-AS1 (G991R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5 +1 more	GUncertain significance
Select item 488875	NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter)	SYNGAP1-AS1, SYNGAP1 (Q1093* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1029091	NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)	SYNGAP1, SYNGAP1-AS1 (S1196F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 5	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
Select item 411587	NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)	SYNGAP1, SYNGAP1-AS1 (T1305A)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1029092	NM_006772.3(SYNGAP1):c.3943T>C (p.Trp1315Arg)	SYNGAP1, SYNGAP1-AS1 (W1315R)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 852577	NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)	SYNGAP1, SYNGAP1-AS1 (G1335S)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 5	GConflicting classifications of pathogenicity
Select item 450879	NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)	SYNGAP1, SYNGAP1-AS1 (R1338Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic

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Items: 25