ClinVar for Gene (Select 9736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062602	GRCh37/hg19 2p15(chr2:61518864-62195531)x3	CCT4, COMMD1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062588	GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3	C2orf74, CCT4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685853	GRCh37/hg19 2p15(chr2:61542902-62084073)x3	FAM161A, USP34 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684597	GRCh37/hg19 2p15(chr2:61547703-61646886)x1	USP34	Copy number loss	not provided	GUncertain significance
Select item 2684586	GRCh37/hg19 2p15(chr2:61440867-61639841)x1	USP34	Copy number loss	not provided	GUncertain significance
Select item 2650987	NM_014709.4(USP34):c.636T>C (p.Tyr212=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650986	NM_014709.4(USP34):c.1122G>C (p.Val374=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650985	NM_014709.4(USP34):c.1446A>G (p.Leu482=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650984	NM_014709.4(USP34):c.1586C>T (p.Thr529Ile)	USP34 (T529I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650983	NM_014709.4(USP34):c.1974C>T (p.Ser658=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650982	NM_014709.4(USP34):c.2430G>A (p.Ala810=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650981	NM_014709.4(USP34):c.3519A>T (p.Thr1173=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650980	NM_014709.4(USP34):c.3596A>G (p.His1199Arg)	USP34 (H1199R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650979	NM_014709.4(USP34):c.3906T>C (p.Phe1302=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650978	NM_014709.4(USP34):c.5055G>A (p.Leu1685=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650977	NM_014709.4(USP34):c.5460C>T (p.Leu1820=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650976	NM_014709.4(USP34):c.5489G>T (p.Arg1830Leu)	USP34 (R1830L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650975	NM_014709.4(USP34):c.5525C>G (p.Ala1842Gly)	USP34 (A1842G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650974	NM_014709.4(USP34):c.5592C>G (p.Asn1864Lys)	USP34 (N1864K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650973	NM_014709.4(USP34):c.8469A>G (p.Pro2823=)	USP34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650972	NM_014709.4(USP34):c.8890T>G (p.Phe2964Val)	USP34 (F2964V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650971	NM_014709.4(USP34):c.8897G>A (p.Arg2966Gln)	USP34 (R2966Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622788	NM_014709.4(USP34):c.2102C>T (p.Pro701Leu)	USP34 (P701L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622443	NM_014709.4(USP34):c.2170A>G (p.Thr724Ala)	USP34 (T724A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622226	NM_014709.4(USP34):c.1957A>C (p.Ile653Leu)	USP34 (I653L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622225	NM_014709.4(USP34):c.10094T>C (p.Val3365Ala)	USP34 (V3365A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617035	NM_014709.4(USP34):c.3820G>T (p.Gly1274Cys)	USP34 (G1274C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615933	NM_014709.4(USP34):c.7786A>G (p.Thr2596Ala)	USP34 (T2596A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612833	NM_014709.4(USP34):c.2890T>C (p.Tyr964His)	USP34 (Y964H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609974	NM_014709.4(USP34):c.1349C>G (p.Ala450Gly)	USP34 (A450G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607866	NM_014709.4(USP34):c.9766A>G (p.Asn3256Asp)	USP34 (N3256D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606500	NM_014709.4(USP34):c.4006A>C (p.Lys1336Gln)	USP34 (K1336Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604762	NM_014709.4(USP34):c.6715A>G (p.Met2239Val)	USP34 (M2239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602511	NM_014709.4(USP34):c.10412C>G (p.Thr3471Ser)	USP34 (T3471S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601638	NM_014709.4(USP34):c.2090A>C (p.His697Pro)	USP34 (H697P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600918	NM_014709.4(USP34):c.329A>T (p.Glu110Val)	USP34 (E110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598416	NM_014709.4(USP34):c.6244C>T (p.Arg2082Cys)	USP34 (R2082C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598084	NM_014709.4(USP34):c.6968C>G (p.Pro2323Arg)	USP34 (P2323R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598077	NM_014709.4(USP34):c.8186A>G (p.Asn2729Ser)	USP34 (N2729S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591970	NM_014709.4(USP34):c.5585T>C (p.Ile1862Thr)	USP34 (I1862T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588572	NM_014709.4(USP34):c.2259C>A (p.His753Gln)	USP34 (H753Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588532	NM_014709.4(USP34):c.9026G>A (p.Arg3009His)	USP34 (R3009H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566840	NM_014709.4(USP34):c.395G>A (p.Cys132Tyr)	USP34 (C132Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558244	NM_014709.4(USP34):c.9713C>T (p.Thr3238Ile)	USP34 (T3238I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551771	NM_014709.4(USP34):c.5327A>C (p.Asp1776Ala)	LOC126806224, USP34 (D1776A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550695	NM_014709.4(USP34):c.916A>G (p.Thr306Ala)	USP34 (T306A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546749	NM_014709.4(USP34):c.1792G>T (p.Ala598Ser)	USP34 (A598S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544915	NM_014709.4(USP34):c.524A>G (p.Tyr175Cys)	USP34 (Y175C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544857	NM_014709.4(USP34):c.7724G>A (p.Arg2575Gln)	USP34 (R2575Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544856	NM_014709.4(USP34):c.3955C>T (p.Arg1319Trp)	USP34 (R1319W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543950	NM_014709.4(USP34):c.5405C>A (p.Pro1802Gln)	LOC126806224, USP34 (P1802Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539802	NM_014709.4(USP34):c.893G>A (p.Ser298Asn)	USP34 (S298N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539015	NM_014709.4(USP34):c.2596A>G (p.Ile866Val)	USP34 (I866V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538407	NM_014709.4(USP34):c.4382G>C (p.Ser1461Thr)	USP34 (S1461T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537786	NM_014709.4(USP34):c.3776T>C (p.Leu1259Pro)	USP34 (L1259P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535252	NM_014709.4(USP34):c.4330A>G (p.Ile1444Val)	USP34 (I1444V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533876	NM_014709.4(USP34):c.1398G>A (p.Met466Ile)	USP34 (M466I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530998	NM_014709.4(USP34):c.10565C>T (p.Thr3522Ile)	USP34 (T3522I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529171	NM_014709.4(USP34):c.5309G>A (p.Arg1770Gln)	LOC126806224, USP34 (R1770Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525212	NM_014709.4(USP34):c.474A>T (p.Leu158Phe)	USP34 (L158F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515456	NM_014709.4(USP34):c.7060G>A (p.Asp2354Asn)	USP34 (D2354N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495554	NM_014709.4(USP34):c.5624C>T (p.Ala1875Val)	USP34 (A1875V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490520	NM_014709.4(USP34):c.7345T>C (p.Phe2449Leu)	USP34 (F2449L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487690	NM_014709.4(USP34):c.1760A>G (p.Asp587Gly)	USP34 (D587G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484542	NM_014709.4(USP34):c.1031T>G (p.Phe344Cys)	USP34 (F344C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478393	NM_014709.4(USP34):c.2196G>C (p.Glu732Asp)	USP34 (E732D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475946	NM_014709.4(USP34):c.1189T>G (p.Phe397Val)	USP34 (F397V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474336	NM_014709.4(USP34):c.5122C>G (p.Pro1708Ala)	USP34 (P1708A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473611	NM_014709.4(USP34):c.1064C>T (p.Ser355Leu)	USP34 (S355L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472061	NM_014709.4(USP34):c.1862A>G (p.Lys621Arg)	USP34 (K621R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470899	NM_014709.4(USP34):c.5146A>G (p.Ile1716Val)	USP34 (I1716V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404340	NM_014709.4(USP34):c.9668A>G (p.Asp3223Gly)	USP34 (D3223G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398751	NM_014709.4(USP34):c.8755G>C (p.Glu2919Gln)	USP34 (E2919Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394096	NM_014709.4(USP34):c.8027A>G (p.Asn2676Ser)	USP34 (N2676S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392479	NM_014709.4(USP34):c.2784T>G (p.Phe928Leu)	USP34 (F928L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387660	NM_014709.4(USP34):c.5323C>T (p.Leu1775Phe)	LOC126806224, USP34 (L1775F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385033	NM_014709.4(USP34):c.5155G>A (p.Asp1719Asn)	USP34 (D1719N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384986	NM_014709.4(USP34):c.10340G>A (p.Cys3447Tyr)	USP34 (C3447Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374253	NM_014709.4(USP34):c.3491T>C (p.Ile1164Thr)	USP34 (I1164T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371048	NM_014709.4(USP34):c.6334C>T (p.Arg2112Cys)	USP34 (R2112C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370985	NM_014709.4(USP34):c.2113A>C (p.Ile705Leu)	USP34 (I705L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370754	NM_014709.4(USP34):c.8438C>G (p.Pro2813Arg)	USP34 (P2813R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369132	NM_014709.4(USP34):c.5530G>A (p.Ala1844Thr)	USP34 (A1844T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367498	NM_014709.4(USP34):c.6833C>A (p.Thr2278Lys)	USP34 (T2278K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362644	NM_014709.4(USP34):c.9112C>G (p.Leu3038Val)	USP34 (L3038V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358647	NM_014709.4(USP34):c.3440T>C (p.Met1147Thr)	USP34 (M1147T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354559	NM_014709.4(USP34):c.9640G>A (p.Ala3214Thr)	USP34 (A3214T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342566	NM_014709.4(USP34):c.5542T>G (p.Leu1848Val)	USP34 (L1848V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341611	NM_014709.4(USP34):c.6335G>A (p.Arg2112His)	USP34 (R2112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334392	NM_014709.4(USP34):c.8333A>G (p.Asp2778Gly)	USP34 (D2778G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328833	NM_014709.4(USP34):c.9700T>A (p.Tyr3234Asn)	USP34 (Y3234N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328687	NM_014709.4(USP34):c.5876C>T (p.Pro1959Leu)	USP34 (P1959L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326440	NM_014709.4(USP34):c.557T>C (p.Ile186Thr)	USP34 (I186T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321592	NM_014709.4(USP34):c.62G>A (p.Gly21Asp)	USP34 (G21D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318745	NM_014709.4(USP34):c.3406C>G (p.Gln1136Glu)	USP34 (Q1136E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317079	NM_014709.4(USP34):c.9208G>A (p.Val3070Ile)	USP34 (V3070I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314639	NM_014709.4(USP34):c.3308G>A (p.Gly1103Asp)	USP34 (G1103D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311632	NM_014709.4(USP34):c.164A>G (p.His55Arg)	USP34 (H55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308230	NM_014709.4(USP34):c.2692C>G (p.Gln898Glu)	USP34 (Q898E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304131	NM_014709.4(USP34):c.9136C>T (p.Leu3046Phe)	USP34 (L3046F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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