UST[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 149317	GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3	GINM1, KATNA1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 146082	GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1	GINM1, IYD +131 more	Copy number loss	See cases	GPathogenic
Select item 147845	GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1	GINM1, KATNA1 +69 more	Copy number loss	See cases	GPathogenic
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 153235	GRCh38/hg38 6q25.1(chr6:149056723-149435037)x1	LOC123881328, LOC126859826 +26 more	Copy number loss	See cases	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 2656988	NM_005715.3(UST):c.1089A>G (p.Gly363=)	LOC126859826, UST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 780665	NM_005715.3(UST):c.1113C>T (p.Pro371=)	LOC126859826, UST	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187867	NM_005715.3(UST):c.1142C>T (p.Thr381Ile)	LOC126859826, UST (T381I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1809058	GRCh37/hg19 6q25.1(chr6:149365646-149485379)x1	UST	Copy number loss	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 638121	GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1	GINM1, KATNA1 +17 more	Copy number loss	See cases	GPathogenic
Select item 563240	GRCh37/hg19 6q24.2-25.1(chr6:144947731-150266155)x1	ADGB, EPM2A +22 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442634	GRCh37/hg19 6q24.3-25.1(chr6:148364229-149928368)x1	GINM1, KATNA1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic

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Items: 41