USP53[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 150371	GRCh38/hg38 4q26(chr4:118858868-119856165)x3	C4orf3, FABP2 +22 more	Copy number gain	See cases	GLikely benign
Select item 3187775	NM_001371395.1(USP53):c.4G>A (p.Ala2Thr)	USP53 (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2062610	NM_001371395.1(USP53):c.21dup (p.Arg8fs)	USP53 (R8fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1705629	NM_001371395.1(USP53):c.78_79dup (p.Ala27fs)	USP53 (A27fs)	Duplication (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 2054558	NM_001371395.1(USP53):c.108del (p.Gly37fs)	USP53 (G37fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2965790	NM_001371395.1(USP53):c.144+12A>C	USP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3064438	NM_001371395.1(USP53):c.145-10_168del	USP53	Deletion (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 3065121	NM_001371395.1(USP53):c.146T>A (p.Val49Asp)	USP53 (V49D)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GUncertain significance
Select item 2692225	NM_001371395.1(USP53):c.153G>A (p.Trp51Ter)	USP53 (W51*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 1526033	NM_001371395.1(USP53):c.158T>A (p.Leu53Ter)	USP53 (L53*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 694473	NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	USP53 (R57*)	Single nucleotide variant (nonsense +1 more)	Cholestasis	GPathogenic
Select item 619050	NM_001371395.1(USP53):c.173G>A (p.Arg58Gln)	USP53 (R58Q)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 1333554	NM_001371395.1(USP53):c.205C>T (p.Gln69Ter)	USP53 (Q69*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 2671669	NM_001371395.1(USP53):c.237+1G>A	USP53	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 773456	NM_001371395.1(USP53):c.241A>T (p.Ile81Leu)	USP53 (I81L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2305117	NM_001371395.1(USP53):c.277C>T (p.Leu93Phe)	USP53 (L93F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484861	NM_001371395.1(USP53):c.280C>T (p.Pro94Ser)	USP53 (P94S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3331631	NM_001371395.1(USP53):c.286G>C (p.Asp96His)	USP53 (D96H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313908	NM_001371395.1(USP53):c.289A>G (p.Asn97Asp)	USP53 (N97D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 694474	NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	USP53 (R99S)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GPathogenic
Select item 2227060	NM_001371395.1(USP53):c.311A>C (p.Glu104Ala)	USP53 (E104A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1526171	NM_001371395.1(USP53):c.331C>T (p.Arg111Ter)	USP53 (R111*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 3187772	NM_001371395.1(USP53):c.332G>A (p.Arg111Gln)	USP53 (R111Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2716915	NM_001371395.1(USP53):c.363G>A (p.Ala121=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491521	NM_001371395.1(USP53):c.371T>A (p.Phe124Tyr)	USP53 (F124Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1421292	NM_001371395.1(USP53):c.372+3_372+6del	USP53	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 3020393	NM_001371395.1(USP53):c.372+14_372+16dup	USP53	Duplication (intron variant)	not provided	GLikely benign
Select item 2702963	NM_001371395.1(USP53):c.387G>A (p.Glu129=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694475	NM_001371395.1(USP53):c.395A>G (p.His132Arg)	USP53 (H132R +1 more)	Single nucleotide variant (missense variant)	Cholestasis	GLikely pathogenic
Select item 3187773	NM_001371395.1(USP53):c.424G>C (p.Asp142His)	USP53 (D26H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187774	NM_001371395.1(USP53):c.428T>C (p.Met143Thr)	USP53 (M143T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2048281	NM_001371395.1(USP53):c.461A>G (p.Lys154Arg)	USP53 (K38R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2003806	NM_001371395.1(USP53):c.486+8G>T	USP53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2022505	NM_001371395.1(USP53):c.487-8C>A	USP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328233	NM_001371395.1(USP53):c.510del (p.Ser171fs)	USP53 (S171fs +1 more)	Deletion (frameshift variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 1903044	NM_001371395.1(USP53):c.554C>T (p.Ser185Phe)	USP53 (S185F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694476	NM_001371395.1(USP53):c.569+2T>C	USP53	Single nucleotide variant (splice donor variant)	Cholestasis	GPathogenic
Select item 2671670	NM_001371395.1(USP53):c.570-1G>A	USP53	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GUncertain significance
Select item 694477	NM_001371395.1(USP53):c.583del (p.Arg195fs)	USP53 (R195fs +1 more)	Deletion (frameshift variant)	Cholestasis	GPathogenic
Select item 2219725	NM_001371395.1(USP53):c.614C>T (p.Pro205Leu)	USP53 (P205L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331626	NM_001371395.1(USP53):c.659A>C (p.Asp220Ala)	USP53 (D220A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328232	NM_001371395.1(USP53):c.725C>T (p.Pro242Leu)	USP53 (P242L +1 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 3018517	NM_001371395.1(USP53):c.738A>C (p.Thr246=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003808	NM_001371395.1(USP53):c.738A>G (p.Thr246=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2886710	NM_001371395.1(USP53):c.759C>T (p.Ser253=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3187776	NM_001371395.1(USP53):c.790C>T (p.Arg264Trp)	USP53 (R264W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585608	NM_001371395.1(USP53):c.822+1del	USP53	Deletion (splice donor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 2602854	NM_001371395.1(USP53):c.821G>A (p.Gly274Glu)	USP53 (G274E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371695	NM_001371395.1(USP53):c.823-5A>G	USP53	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2760373	NM_001371395.1(USP53):c.823-2del	USP53	Deletion (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2434496	NM_001371395.1(USP53):c.829del (p.Tyr277fs)	USP53 (Y161fs +1 more)	Deletion (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 694478	NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	USP53 (V279fs)	Microsatellite (frameshift variant)	Cholestasis	GPathogenic
Select item 2617322	NM_001371395.1(USP53):c.857A>T (p.Asn286Ile)	USP53 (N286I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2056296	NM_001371395.1(USP53):c.873T>G (p.Leu291=)	USP53	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2556296	NM_001371395.1(USP53):c.874G>A (p.Val292Ile)	USP53 (V176I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 694479	NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	USP53 (G293V +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GLikely pathogenic
Select item 2728189	NM_001371395.1(USP53):c.908G>A (p.Cys303Tyr)	USP53 (C187Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2318909	NM_001371395.1(USP53):c.916G>A (p.Ala306Thr)	USP53 (A190T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1328227	NM_001371395.1(USP53):c.951del (p.Phe317fs)	USP53 (F201fs +1 more)	Deletion (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 2283891	NM_001371395.1(USP53):c.952G>C (p.Asp318His)	USP53 (D202H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1705415	NM_001371395.1(USP53):c.972+3_972+6del	USP53	Deletion (splice donor variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 1705494	NM_001371395.1(USP53):c.973-1G>A	USP53	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 2585048	NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)	USP53 (G276R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 694273	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	USP53 (R338* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3370325	NM_001371395.1(USP53):c.1069dup (p.Ser357fs)	USP53 (S241fs +2 more)	Duplication (frameshift variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 2454840	NM_001371395.1(USP53):c.1077G>C (p.Glu359Asp)	USP53 (E359D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2606971	NM_001371395.1(USP53):c.1081G>A (p.Ala361Thr)	USP53 (A245T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2768255	NM_001371395.1(USP53):c.1082C>G (p.Ala361Gly)	USP53 (A361G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2592184	NM_001371395.1(USP53):c.1093G>A (p.Val365Ile)	USP53 (V249I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1933537	NM_001371395.1(USP53):c.1135+16A>G	USP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020262	NM_001371395.1(USP53):c.1136-14C>T	USP53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2321555	NM_001371395.1(USP53):c.1150G>A (p.Val384Ile)	USP53 (V268I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523786	NM_001371395.1(USP53):c.1171T>G (p.Leu391Val)	USP53 (L275V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2170764	NM_001371395.1(USP53):c.1218G>A (p.Gln406=)	USP53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 619051	NM_001371395.1(USP53):c.1253G>A (p.Arg418Gln)	USP53 (R418Q +2 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 2974879	NM_001371395.1(USP53):c.1278G>C (p.Gly426=)	USP53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190885	NM_001371395.1(USP53):c.1280A>G (p.Lys427Arg)	USP53 (K427R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2584943	NM_001371395.1(USP53):c.1295_1299del (p.Leu432fs)	USP53 (L265fs +4 more)	Microsatellite (frameshift variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 3187762	NM_001371395.1(USP53):c.1323A>G (p.Ile441Met)	USP53 (I390M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187763	NM_001371395.1(USP53):c.1357A>G (p.Ile453Val)	USP53 (I403V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 694480	NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	USP53 (R425* +4 more)	Single nucleotide variant (nonsense)	Cholestasis	GPathogenic
Select item 2959092	NM_001371395.1(USP53):c.1435+19C>G	USP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976007	NM_001371395.1(USP53):c.1444G>C (p.Asp482His)	USP53 (D315H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2589073	NM_001371395.1(USP53):c.1454T>C (p.Leu485Pro)	USP53 (L369P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2069011	NM_001371395.1(USP53):c.1466A>T (p.Gln489Leu)	USP53 (Q438L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979193	NM_001371395.1(USP53):c.1467A>G (p.Gln489=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2533269	NM_001371395.1(USP53):c.1472G>A (p.Gly491Glu)	USP53 (G324E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331625	NM_001371395.1(USP53):c.1489A>G (p.Asn497Asp)	USP53 (N381D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187764	NM_001371395.1(USP53):c.1502A>G (p.Gln501Arg)	USP53 (Q385R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076787	NM_001371395.1(USP53):c.1527T>C (p.His509=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3331633	NM_001371395.1(USP53):c.1546T>C (p.Tyr516His)	USP53 (Y466H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 694481	NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	USP53 (R469* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +1 more	GPathogenic
Select item 2464058	NM_001371395.1(USP53):c.1577G>A (p.Arg526Gln)	USP53 (R475Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045555	NM_001371395.1(USP53):c.1617T>C (p.Ile539=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2637328	NM_001371395.1(USP53):c.1636dup (p.Ile546fs)	USP53 (I379fs +4 more)	Duplication (frameshift variant)	USP53-related disorder	GLikely pathogenic

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