USP54[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 2553736	NM_001391956.1(USP54):c.4993C>G (p.Leu1665Val)	PPP3CB-AS1, USP54 (L1603V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293837	NM_001391956.1(USP54):c.4880G>A (p.Arg1627Gln)	PPP3CB-AS1, USP54 (R1523Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187797	NM_001391956.1(USP54):c.4831C>A (p.His1611Asn)	PPP3CB-AS1, USP54 (H1507N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328834	NM_001391956.1(USP54):c.4741G>A (p.Val1581Ile)	PPP3CB-AS1, USP54 (V1484I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522268	NM_001391956.1(USP54):c.4732G>A (p.Gly1578Ser)	PPP3CB-AS1, USP54 (G1481S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187796	NM_001391956.1(USP54):c.4731G>T (p.Lys1577Asn)	PPP3CB-AS1, USP54 (K1599N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540352	NM_001391956.1(USP54):c.4717C>T (p.Pro1573Ser)	PPP3CB-AS1, USP54 (P1423S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373340	NM_001391956.1(USP54):c.4604G>A (p.Arg1535His)	PPP3CB-AS1, USP54 (R1431H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555025	NM_001391956.1(USP54):c.4546A>G (p.Thr1516Ala)	PPP3CB-AS1, USP54 (T1412A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273490	NM_001391956.1(USP54):c.4492C>T (p.Pro1498Ser)	PPP3CB-AS1, USP54 (P1436S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492391	NM_001391956.1(USP54):c.4390C>G (p.Pro1464Ala)	PPP3CB-AS1, USP54 (P1417A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038467	NM_001391956.1(USP54):c.4351C>T (p.Arg1451Cys)	PPP3CB-AS1, USP54 (R1301C +7 more)	Single nucleotide variant (missense variant +1 more)	USP54-related disorder	GLikely benign
Select item 2217598	NM_001391956.1(USP54):c.4306A>G (p.Ser1436Gly)	PPP3CB-AS1, USP54 (S1458G +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3187795	NM_001391956.1(USP54):c.4292C>T (p.Pro1431Leu)	PPP3CB-AS1, USP54 (P1453L +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2280948	NM_001391956.1(USP54):c.4267G>A (p.Val1423Ile)	PPP3CB-AS1, USP54 (V1273I +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2459871	NM_001391956.1(USP54):c.4249C>T (p.Arg1417Cys)	PPP3CB-AS1, USP54 (R1360C +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2216409	NM_001391956.1(USP54):c.4241G>A (p.Arg1414His)	PPP3CB-AS1, USP54 (R1352H +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2384265	NM_001391956.1(USP54):c.4217A>G (p.Gln1406Arg)	PPP3CB-AS1, USP54 (Q1309R +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3187793	NM_001391956.1(USP54):c.4213G>A (p.Glu1405Lys)	PPP3CB-AS1, USP54 (E1255K +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3044550	NM_001391956.1(USP54):c.4183C>T (p.Arg1395Ter)	PPP3CB-AS1, USP54 (R1245* +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	USP54-related disorder	GLikely benign
Select item 3187792	NM_001391956.1(USP54):c.4087G>C (p.Ala1363Pro)	PPP3CB-AS1, USP54 (A1385P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3187791	NM_001391956.1(USP54):c.4084T>A (p.Ser1362Thr)	PPP3CB-AS1, USP54 (S1212T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2468691	NM_001391956.1(USP54):c.4082A>G (p.His1361Arg)	PPP3CB-AS1, USP54 (H1211R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3187790	NM_001391956.1(USP54):c.4042A>G (p.Ser1348Gly)	USP54 (S1198G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370218	NM_001391956.1(USP54):c.4027G>A (p.Ala1343Thr)	USP54 (A1286T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457106	NM_001391956.1(USP54):c.3875C>T (p.Thr1292Met)	USP54 (T1292M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2369306	NM_001391956.1(USP54):c.3835C>T (p.Pro1279Ser)	USP54 (P1129S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2397455	NM_001391956.1(USP54):c.3630A>T (p.Leu1210Phe)	USP54 (L1232F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216120	NM_001391956.1(USP54):c.3626C>T (p.Ala1209Val)	USP54 (A1112V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187786	NM_001391956.1(USP54):c.3593C>A (p.Ser1198Tyr)	USP54 (S1048Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475715	NM_001391956.1(USP54):c.3536G>A (p.Gly1179Asp)	USP54 (G1082D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187785	NM_001391956.1(USP54):c.3464T>C (p.Leu1155Ser)	USP54 (L1155S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292910	NM_001391956.1(USP54):c.3461G>A (p.Ser1154Asn)	USP54 (S1057N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257497	NM_001391956.1(USP54):c.3050G>A (p.Gly1017Glu)	USP54 (G867E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480975	NM_001391956.1(USP54):c.3037C>T (p.Pro1013Ser)	USP54 (P1013S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234116	NM_001391956.1(USP54):c.2981C>G (p.Ala994Gly)	USP54 (A844G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640588	NM_001391956.1(USP54):c.2974T>C (p.Leu992=)	USP54	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2248526	NM_001391956.1(USP54):c.2906T>C (p.Phe969Ser)	USP54 (F991S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401848	NM_001391956.1(USP54):c.2873C>T (p.Ser958Leu)	USP54 (S861L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187784	NM_001391956.1(USP54):c.2791G>C (p.Glu931Gln)	USP54 (E953Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535368	NM_001391956.1(USP54):c.2632T>C (p.Ser878Pro)	USP54 (S728P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187782	NM_001391956.1(USP54):c.2624C>T (p.Ser875Leu)	USP54 (S875L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550710	NM_001391956.1(USP54):c.2621C>T (p.Pro874Leu)	USP54 (P724L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303148	NM_001391956.1(USP54):c.2497G>A (p.Ala833Thr)	USP54 (A683T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398018	NM_001391956.1(USP54):c.2452G>A (p.Ala818Thr)	USP54 (A840T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270352	NM_001391956.1(USP54):c.2308G>A (p.Gly770Arg)	USP54 (G713R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187781	NM_001391956.1(USP54):c.2302G>A (p.Ala768Thr)	USP54 (A618T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407549	NM_001391956.1(USP54):c.2104C>A (p.Arg702Ser)	USP54 (R702S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210782	NM_001391956.1(USP54):c.2104C>T (p.Arg702Cys)	USP54 (R724C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255353	NM_001391956.1(USP54):c.2083G>C (p.Ala695Pro)	USP54 (A717P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257029	NM_001391956.1(USP54):c.2069G>A (p.Ser690Asn)	USP54 (S633N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045474	NM_001391956.1(USP54):c.2060+93G>C	LOC121815949, USP54 (G718A)	Single nucleotide variant (missense variant +1 more)	USP54-related disorder	GLikely benign
Select item 2261646	NM_001391956.1(USP54):c.2048C>T (p.Ser683Leu)	LOC121815949, USP54 (S626L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552501	NM_001391956.1(USP54):c.1970G>A (p.Arg657Gln)	USP54 (R600Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548106	NM_001391956.1(USP54):c.1925G>A (p.Arg642Gln)	USP54 (R492Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187780	NM_001391956.1(USP54):c.1897C>A (p.Pro633Thr)	USP54 (P633T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455040	NM_001391956.1(USP54):c.1829C>T (p.Ala610Val)	USP54 (A460V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252846	NM_001391956.1(USP54):c.1810C>T (p.Pro604Ser)	USP54 (P454S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226534	NM_001391956.1(USP54):c.1732C>T (p.Pro578Ser)	USP54 (P600S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235517	NM_001391956.1(USP54):c.1670T>G (p.Ile557Arg)	USP54 (I557R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556708	NM_001391956.1(USP54):c.1658G>A (p.Arg553His)	USP54 (R496H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2526589	NM_001391956.1(USP54):c.1543A>G (p.Met515Val)	USP54 (M365V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187779	NM_001391956.1(USP54):c.1487C>T (p.Ser496Phe)	USP54 (S346F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187778	NM_001391956.1(USP54):c.1414G>A (p.Asp472Asn)	USP54 (D494N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326116	NM_001391956.1(USP54):c.1411G>A (p.Gly471Ser)	USP54 (G414S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346263	NM_001391956.1(USP54):c.1385G>T (p.Arg462Met)	USP54 (R462M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554021	NM_001391956.1(USP54):c.1208A>G (p.Lys403Arg)	USP54 (K253R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187777	NM_001391956.1(USP54):c.1088C>T (p.Pro363Leu)	USP54 (P213L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365018	NM_001391956.1(USP54):c.1049C>T (p.Ala350Val)	USP54 (A200V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402492	NM_001391956.1(USP54):c.1022A>G (p.His341Arg)	USP54 (H191R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273734	NM_001391956.1(USP54):c.1013T>C (p.Ile338Thr)	USP54 (I338T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354320	NM_001391956.1(USP54):c.986A>G (p.Lys329Arg)	USP54 (K179R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298866	NM_001391956.1(USP54):c.851G>A (p.Arg284Gln)	USP54 (R134Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597897	NM_001391956.1(USP54):c.842C>T (p.Thr281Met)	USP54 (T131M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187801	NM_001391956.1(USP54):c.720G>C (p.Met240Ile)	USP54 (M262I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187800	NM_001391956.1(USP54):c.696G>T (p.Arg232Ser)	USP54 (R232S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187799	NM_001391956.1(USP54):c.587G>A (p.Cys196Tyr)	USP54 (C218Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187798	NM_001391956.1(USP54):c.544G>A (p.Val182Ile)	USP54 (V182I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300419	NM_001391956.1(USP54):c.517T>G (p.Ser173Ala)	USP54 (S173A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245093	NM_001391956.1(USP54):c.427G>A (p.Asp143Asn)	USP54 (D143N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187789	NM_001391956.1(USP54):c.392G>A (p.Arg131Lys)	USP54 (R131K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187788	NM_001391956.1(USP54):c.381C>A (p.Asn127Lys)	USP54 (N127K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3038707	NM_001391956.1(USP54):c.331C>G (p.Gln111Glu)	USP54 (Q111E)	Single nucleotide variant (missense variant +1 more)	USP54-related disorder	GLikely benign
Select item 3187783	NM_001391956.1(USP54):c.268A>G (p.Ser90Gly)	USP54 (S90G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554556	NM_001391956.1(USP54):c.163G>A (p.Asp55Asn)	USP54 (D55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187787	NM_001391956.1(USP54):c.35G>A (p.Arg12His)	USP54 (R12H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527593	GRCh37/hg19 10q22.2(chr10:75089777-75359997)	ANXA7, CFAP70 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 688655	GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1	AGAP5, C10orf55 +12 more	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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