"GeneDx"[submitter] AND "SYT1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 2575023	NM_005639.3(SYT1):c.290G>C (p.Gly97Ala)	SYT1 (G97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315189	NM_005639.3(SYT1):c.403GAA[1] (p.Glu136del)	SYT1 (E133del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1312768	NM_005639.3(SYT1):c.404A>G (p.Glu135Gly)	SYT1 (E132G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712611	NM_005639.3(SYT1):c.405A>C (p.Glu135Asp)	SYT1 (E132D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809838	NM_005639.3(SYT1):c.522G>T (p.Met174Ile)	SYT1 (M171I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663213	NM_005639.3(SYT1):c.532T>A (p.Ser178Thr)	SYT1 (S175T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498061	NM_005639.3(SYT1):c.536A>G (p.Asp179Gly)	SYT1 (D176G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580451	NM_005639.3(SYT1):c.605C>A (p.Thr202Asn)	SYT1 (T199N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576861	NM_005639.3(SYT1):c.822G>T (p.Leu274Phe)	SYT1 (L271F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446528	NM_005639.3(SYT1):c.822G>C (p.Leu274Phe)	SYT1 (L271F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012827	NM_005639.3(SYT1):c.845G>A (p.Arg282His)	SYT1 (R279H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1800680	NM_005639.3(SYT1):c.993T>G (p.Ile331Met)	SYT1 (I328M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252282	NM_005639.3(SYT1):c.1022A>G (p.Asn341Ser)	SYT1 (N338S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274428	NM_005639.3(SYT1):c.1074G>T (p.Val358=)	SYT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3373082	NM_005639.3(SYT1):c.1091A>C (p.Asp364Ala)	SYT1 (D361A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309093	NM_005639.3(SYT1):c.1093T>C (p.Tyr365His)	SYT1 (Y362H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504970	NM_005639.3(SYT1):c.1115A>G (p.Asp372Gly)	SYT1 (D369G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance