"Ambry Genetics"[submitter] AND "USP11"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511755	NM_001371072.1(USP11):c.-20G>A	LOC119369038, USP11	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2398901	NM_001371072.1(USP11):c.17C>T (p.Ala6Val)	LOC119369038, USP11 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411433	NM_001371072.1(USP11):c.23C>T (p.Pro8Leu)	LOC119369038, USP11 (P8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206386	NM_001371072.1(USP11):c.184G>C (p.Val62Leu)	USP11 (V62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396486	NM_001371072.1(USP11):c.302G>A (p.Arg101His)	USP11 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276406	NM_001371072.1(USP11):c.391C>T (p.His131Tyr)	USP11 (H131Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187136	NM_001371072.1(USP11):c.457C>T (p.Pro153Ser)	USP11 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355869	NM_001371072.1(USP11):c.576G>C (p.Glu192Asp)	USP11 (E192D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225087	NM_001371072.1(USP11):c.758C>T (p.Ser253Leu)	USP11 (S253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187132	NM_001371072.1(USP11):c.1339A>G (p.Ile447Val)	USP11 (I447V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209138	NM_001371072.1(USP11):c.1498G>A (p.Ala500Thr)	USP11 (A500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258338	NM_001371072.1(USP11):c.1503T>A (p.Asp501Glu)	USP11 (D501E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258339	NM_001371072.1(USP11):c.1505T>A (p.Val502Asp)	USP11 (V502D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258340	NM_001371072.1(USP11):c.1507T>A (p.Phe503Ile)	USP11 (F503I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187133	NM_001371072.1(USP11):c.1529T>C (p.Leu510Pro)	USP11 (L510P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591459	NM_001371072.1(USP11):c.1744C>T (p.Arg582Cys)	USP11 (R582C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348203	NM_001371072.1(USP11):c.1867G>A (p.Asp623Asn)	USP11 (D623N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187134	NM_001371072.1(USP11):c.1943C>T (p.Thr648Met)	USP11 (T648M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260271	NM_001371072.1(USP11):c.2065A>G (p.Thr689Ala)	USP11 (T689A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606592	NM_001371072.1(USP11):c.2093C>T (p.Pro698Leu)	USP11 (P698L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187135	NM_001371072.1(USP11):c.2179G>A (p.Val727Ile)	USP11 (V727I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239382	NM_001371072.1(USP11):c.2218G>A (p.Glu740Lys)	USP11 (E740K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509863	NM_001371072.1(USP11):c.2288A>G (p.Lys763Arg)	USP11 (K763R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492937	NM_001371072.1(USP11):c.2419C>T (p.Arg807Trp)	USP11 (R807W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660418	NM_001371072.1(USP11):c.2465C>T (p.Ser822Leu)	USP11 (S822L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2334997	NM_001371072.1(USP11):c.2653C>A (p.Gln885Lys)	USP11 (Q885K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368183	NM_001371072.1(USP11):c.2729C>T (p.Ser910Phe)	USP11 (S910F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27