VEZT[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 3188479	NM_017599.4(VEZT):c.98C>T (p.Ser33Phe)	VEZT (S33F +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3188469	NM_017599.4(VEZT):c.148C>G (p.Pro50Ala)	VEZT (P50A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188472	NM_017599.4(VEZT):c.175A>G (p.Ile59Val)	VEZT (I11V +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3332012	NM_017599.4(VEZT):c.334A>C (p.Ile112Leu)	VEZT (I112L +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3332011	NM_017599.4(VEZT):c.341T>C (p.Leu114Pro)	VEZT (L114P +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3332010	NM_017599.4(VEZT):c.446T>A (p.Met149Lys)	VEZT (M119K +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539616	NM_017599.4(VEZT):c.512T>C (p.Val171Ala)	VEZT (V23A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188477	NM_017599.4(VEZT):c.587C>A (p.Thr196Asn)	VEZT (T165N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3188478	NM_017599.4(VEZT):c.781G>A (p.Ala261Thr)	VEZT (A113T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3188467	NM_017599.4(VEZT):c.1196A>G (p.Tyr399Cys)	VEZT (Y325C +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332009	NM_017599.4(VEZT):c.1198C>T (p.Arg400Trp)	VEZT (R326W +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188468	NM_017599.4(VEZT):c.1199G>A (p.Arg400Gln)	VEZT (R326Q +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332013	NM_017599.4(VEZT):c.1254G>C (p.Gln418His)	VEZT (Q274H +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3332014	NM_017599.4(VEZT):c.1492A>C (p.Lys498Gln)	VEZT (K364Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188470	NM_017599.4(VEZT):c.1502G>A (p.Arg501Gln)	VEZT (R410Q +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3188471	NM_017599.4(VEZT):c.1637A>G (p.Tyr546Cys)	VEZT (Y398C +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3188473	NM_017599.4(VEZT):c.1828C>G (p.His610Asp)	VEZT (H519D +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3188474	NM_017599.4(VEZT):c.2057C>T (p.Ala686Val)	VEZT (A443V +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3188475	NM_017599.4(VEZT):c.2164A>G (p.Ile722Val)	VEZT (I479V +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3188476	NM_017599.4(VEZT):c.2240C>T (p.Ala747Val)	VEZT (A504V +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 226229	GRCh37/hg19 12q22(chr12:95530434-95627379)	VEZT, FGD6	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 39