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

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539616	NM_017599.4(VEZT):c.512T>C (p.Val171Ala)	VEZT (V23A +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372909	NM_017599.4(VEZT):c.769G>A (p.Gly257Ser)	VEZT (G123S +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258953	NM_017599.4(VEZT):c.1153C>G (p.His385Asp)	VEZT (H241D +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2236401	NM_017599.4(VEZT):c.1382A>C (p.Gln461Pro)	VEZT (Q313P +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218486	NM_017599.4(VEZT):c.1444G>A (p.Val482Ile)	VEZT (V338I +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510937	NM_017599.4(VEZT):c.1519A>G (p.Lys507Glu)	VEZT (K477E +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204333	NM_017599.4(VEZT):c.1527G>T (p.Lys509Asn)	VEZT (K361N +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323600	NM_017599.4(VEZT):c.1655T>C (p.Ile552Thr)	VEZT (I408T +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356253	NM_017599.4(VEZT):c.1895T>A (p.Met632Lys)	VEZT (M498K +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2593384	NM_017599.4(VEZT):c.1898A>G (p.Asn633Ser)	VEZT (N559S +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2399751	NM_017599.4(VEZT):c.1915G>A (p.Val639Ile)	VEZT (V548I +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2557989	NM_017599.4(VEZT):c.1931C>G (p.Thr644Ser)	VEZT (T401S +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2404632	NM_017599.4(VEZT):c.2126C>G (p.Thr709Ser)	VEZT (T661S +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2527600	NM_017599.4(VEZT):c.2190G>T (p.Gln730His)	VEZT (Q596H +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance