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

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Items: 10

	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)	Inborn genetic diseases	GUncertain significance
Select item 2490267	NM_003180.3(SYT5):c.997A>G (p.Lys333Glu)	SYT5 (K329E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308192	NM_003180.3(SYT5):c.916T>C (p.Tyr306His)	SYT5 (Y302H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210086	NM_003180.3(SYT5):c.914A>G (p.Tyr305Cys)	SYT5 (Y301C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229420	NM_003180.3(SYT5):c.397A>G (p.Met133Val)	SYT5 (M130V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384194	NM_003180.3(SYT5):c.306G>C (p.Gln102His)	SYT5 (Q99H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490266	NM_003180.3(SYT5):c.164G>A (p.Cys55Tyr)	SYT5 (C55Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406154	NM_003180.3(SYT5):c.122T>C (p.Leu41Pro)	SYT5 (L41P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256734	NM_003180.3(SYT5):c.72C>A (p.His24Gln)	SYT5 (H24Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514681	NM_003180.3(SYT5):c.61C>A (p.Arg21Ser)	SYT5 (R21S)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance