USP11[gene] and "single gene"[properties] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 788053	NM_001371072.1(USP11):c.282T>C (p.Phe94=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 724805	NM_001371072.1(USP11):c.453G>A (p.Val151=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3331319	NM_001371072.1(USP11):c.500C>T (p.Ser167Phe)	USP11 (S167F)	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 402175	NM_004651.3(USP11):c.722G>A (p.Arg241Gln)	USP11	Single nucleotide variant	Abnormal brain morphology	GLikely pathogenic
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 739635	NM_001371072.1(USP11):c.873C>T (p.Thr291=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3331317	NM_001371072.1(USP11):c.929G>C (p.Gly310Ala)	USP11 (G310A)	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 716704	NM_001371072.1(USP11):c.1386G>A (p.Pro462=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635007	NM_004651.3(USP11):c.1599G>A (p.Thr533=)	USP11	Single nucleotide variant	Dynein arm defect of respiratory motile cilia +3 more	GLikely pathogenic
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 3331318	NM_001371072.1(USP11):c.1618G>A (p.Gly540Ser)	USP11 (G540S)	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 3046172	NM_001371072.1(USP11):c.1843+49C>A	USP11	Single nucleotide variant (intron variant)	USP11-related disorder	GLikely benign
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 713257	NM_001371072.1(USP11):c.1939G>A (p.Val647Ile)	USP11 (V647I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 743694	NM_001371072.1(USP11):c.2142C>T (p.Asp714=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 738182	NM_001371072.1(USP11):c.2181C>T (p.Val727=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 982432	NM_001371072.1(USP11):c.2420G>A (p.Arg807Gln)	USP11 (R807Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770827	NM_001371072.1(USP11):c.2433C>T (p.Phe811=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 726706	NM_001371072.1(USP11):c.2481C>T (p.Tyr827=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2660419	NM_001371072.1(USP11):c.2493C>A (p.Leu831=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798662	NM_001371072.1(USP11):c.2571G>A (p.Gln857=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2660420	NM_001371072.1(USP11):c.2583T>C (p.Phe861=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721134	NM_001371072.1(USP11):c.2598C>A (p.Val866=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 780688	NM_001371072.1(USP11):c.2670G>A (p.Ala890=)	USP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
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: 45