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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2352988	NM_005715.3(UST):c.31G>C (p.Gly11Arg)	LOC129997401, UST (G11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302549	NM_005715.3(UST):c.79G>T (p.Gly27Cys)	LOC129997401, UST (G27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276706	NM_005715.3(UST):c.88A>G (p.Ser30Gly)	LOC129997401, UST (S30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524909	NM_005715.3(UST):c.134T>C (p.Leu45Pro)	UST (L45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187868	NM_005715.3(UST):c.145G>A (p.Gly49Ser)	UST (G49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229830	NM_005715.3(UST):c.155T>G (p.Met52Arg)	UST (M52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411118	NM_005715.3(UST):c.337T>C (p.Cys113Arg)	UST (C113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301814	NM_005715.3(UST):c.383A>G (p.Lys128Arg)	UST (K128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406746	NM_005715.3(UST):c.388G>A (p.Gly130Arg)	UST (G130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556709	NM_005715.3(UST):c.524C>T (p.Ser175Leu)	UST (S175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209969	NM_005715.3(UST):c.578A>G (p.Asn193Ser)	UST, UST-AS1 (N193S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187869	NM_005715.3(UST):c.662G>A (p.Arg221Lys)	UST, UST-AS1 (R221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558818	NM_005715.3(UST):c.715G>A (p.Glu239Lys)	UST (E239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471339	NM_005715.3(UST):c.828A>C (p.Glu276Asp)	UST (E276D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355955	NM_005715.3(UST):c.938A>G (p.Glu313Gly)	LOC126859826, UST (E313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187866	NM_005715.3(UST):c.1018C>T (p.Arg340Trp)	LOC126859826, UST (R340W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357717	NM_005715.3(UST):c.1036G>A (p.Glu346Lys)	LOC126859826, UST (E346K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410932	NM_005715.3(UST):c.1090C>G (p.Leu364Val)	LOC126859826, UST (L364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406442	NM_005715.3(UST):c.1097C>G (p.Ser366Cys)	LOC126859826, UST (S366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187867	NM_005715.3(UST):c.1142C>T (p.Thr381Ile)	LOC126859826, UST (T381I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20