SYT6[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 221685	GRCh38/hg38 1p13.2(chr1:114073607-114177397)x1	LOC122094904, LOC129931240 +1 more	Copy number loss	Premature ovarian failure	GBenign
Select item 3324058	NM_001253772.2(SYT6):c.1526G>A (p.Arg509Gln)	SYT6 (R509Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 221298	NM_001253772.2(SYT6):c.1471G>A (p.Ala491Thr)	SYT6 (A406T +1 more)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2613569	NM_001253772.2(SYT6):c.1469T>C (p.Ile490Thr)	SYT6 (I490T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349488	NM_001253772.2(SYT6):c.1421T>C (p.Leu474Pro)	SYT6 (L389P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340196	NM_001253772.2(SYT6):c.1385T>C (p.Ile462Thr)	SYT6 (I377T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173025	NM_001253772.2(SYT6):c.1339C>T (p.Leu447Phe)	SYT6 (L362F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173027	NM_001253772.2(SYT6):c.1229G>T (p.Arg410Leu)	SYT6 (R325L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387862	NM_001253772.2(SYT6):c.1228C>T (p.Arg410Trp)	SYT6 (R325W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223340	NM_001253772.2(SYT6):c.1052A>T (p.Asp351Val)	SYT6 (D351V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616834	NM_001253772.2(SYT6):c.962G>T (p.Arg321Leu)	SYT6 (R236L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338325	NM_001253772.2(SYT6):c.962G>A (p.Arg321His)	SYT6 (R321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324057	NM_001253772.2(SYT6):c.928C>T (p.Arg310Cys)	SYT6 (R225C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325936	NM_001253772.2(SYT6):c.889A>G (p.Asn297Asp)	SYT6 (N297D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324056	NM_001253772.2(SYT6):c.830G>A (p.Arg277His)	SYT6 (R277H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368560	NM_001253772.2(SYT6):c.829C>T (p.Arg277Cys)	SYT6 (R192C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324053	NM_001253772.2(SYT6):c.792C>A (p.Ser264Arg)	SYT6 (S179R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485267	NM_001253772.2(SYT6):c.788G>A (p.Gly263Glu)	SYT6 (G263E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513808	NM_001253772.2(SYT6):c.758C>T (p.Ala253Val)	SYT6 (A253V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227076	NM_001253772.2(SYT6):c.665C>A (p.Ala222Asp)	SYT6 (A137D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406490	NM_001253772.2(SYT6):c.608G>A (p.Ser203Asn)	SYT6 (S203N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207721	NM_001253772.2(SYT6):c.529C>T (p.Arg177Cys)	SYT6 (R177C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173026	NM_001253772.2(SYT6):c.521C>A (p.Ser174Tyr)	SYT6 (S89Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508550	NM_001253772.2(SYT6):c.481C>T (p.Arg161Trp)	SYT6 (R76W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324055	NM_001253772.2(SYT6):c.472C>T (p.Arg158Trp)	SYT6 (R158W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217765	NM_001253772.2(SYT6):c.464G>A (p.Arg155His)	SYT6 (R155H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324054	NM_001253772.2(SYT6):c.457A>T (p.Ile153Phe)	SYT6 (I68F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324052	NM_001253772.2(SYT6):c.440T>C (p.Met147Thr)	SYT6 (M62T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223448	NM_001253772.2(SYT6):c.440T>A (p.Met147Lys)	SYT6 (M62K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454459	NM_001253772.2(SYT6):c.304C>T (p.Pro102Ser)	SYT6 (P102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 45