"Ambry Genetics"[submitter] AND "SYT5"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2311865	NM_003180.3(SYT5):c.1088A>G (p.Asn363Ser)	SYT5 (N363S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173018	NM_003180.3(SYT5):c.1075G>T (p.Asp359Tyr)	SYT5 (D359Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490267	NM_003180.3(SYT5):c.997A>G (p.Lys333Glu)	SYT5 (K329E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173024	NM_003180.3(SYT5):c.973G>A (p.Glu325Lys)	SYT5 (E325K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173023	NM_003180.3(SYT5):c.955G>A (p.Val319Ile)	SYT5 (V315I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308192	NM_003180.3(SYT5):c.916T>C (p.Tyr306His)	SYT5 (Y302H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210086	NM_003180.3(SYT5):c.914A>G (p.Tyr305Cys)	SYT5 (Y301C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324050	NM_003180.3(SYT5):c.835G>A (p.Val279Ile)	SYT5 (V275I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173022	NM_003180.3(SYT5):c.761G>C (p.Gly254Ala)	SYT5 (G250A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173021	NM_003180.3(SYT5):c.701G>A (p.Arg234Gln)	SYT5 (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324051	NM_003180.3(SYT5):c.650T>C (p.Val217Ala)	SYT5 (V214A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324049	NM_003180.3(SYT5):c.490G>C (p.Val164Leu)	SYT5 (V161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173019	NM_003180.3(SYT5):c.469C>G (p.Arg157Gly)	SYT5 (R157G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324048	NM_003180.3(SYT5):c.407C>G (p.Ala136Gly)	SYT5 (A136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229420	NM_003180.3(SYT5):c.397A>G (p.Met133Val)	SYT5 (M130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384194	NM_003180.3(SYT5):c.306G>C (p.Gln102His)	SYT5 (Q99H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490266	NM_003180.3(SYT5):c.164G>A (p.Cys55Tyr)	SYT5 (C55Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324047	NM_003180.3(SYT5):c.154C>T (p.Arg52Trp)	SYT5 (R52W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406154	NM_003180.3(SYT5):c.122T>C (p.Leu41Pro)	SYT5 (L41P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173017	NM_003180.3(SYT5):c.106G>A (p.Val36Met)	SYT5 (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256734	NM_003180.3(SYT5):c.72C>A (p.His24Gln)	SYT5 (H24Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173020	NM_003180.3(SYT5):c.62G>C (p.Arg21Pro)	SYT5 (A76P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514681	NM_003180.3(SYT5):c.61C>A (p.Arg21Ser)	SYT5 (R21S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance

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Items: 23