ClinVar for Gene (Select 54532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3367150	NM_001371395.1(USP53):c.1962T>A (p.Ser654Arg)	USP53 (S487R +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GUncertain significance
Select item 3331634	NM_001371395.1(USP53):c.2675A>C (p.Glu892Ala)	USP53 (E842A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3331630	NM_001371395.1(USP53):c.2044C>G (p.Gln682Glu)	USP53 (Q632E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331629	NM_001371395.1(USP53):c.3100T>G (p.Ser1034Ala)	USP53 (S1034A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3331628	NM_001371395.1(USP53):c.1745G>A (p.Arg582Gln)	USP53 (R466Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331627	NM_001371395.1(USP53):c.2186C>T (p.Thr729Met)	USP53 (T562M +4 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 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 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 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 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 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 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 3187771	NM_001371395.1(USP53):c.2726G>C (p.Gly909Ala)	USP53 (G793A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187770	NM_001371395.1(USP53):c.2705G>A (p.Arg902Gln)	USP53 (R851Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3187769	NM_001371395.1(USP53):c.2632C>T (p.Pro878Ser)	USP53 (P711S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187768	NM_001371395.1(USP53):c.2414A>G (p.His805Arg)	USP53 (H638R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187767	NM_001371395.1(USP53):c.2239C>A (p.His747Asn)	USP53 (H697N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3187766	NM_001371395.1(USP53):c.2024A>G (p.His675Arg)	USP53 (H559R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187765	NM_001371395.1(USP53):c.1717T>G (p.Cys573Gly)	USP53 (C522G +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 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 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 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 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 3062805	GRCh37/hg19 4q26(chr4:120143985-120186501)x1	USP53	Copy number loss	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3020393	NM_001371395.1(USP53):c.372+14_372+16dup	USP53	Duplication (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 3018517	NM_001371395.1(USP53):c.738A>C (p.Thr246=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979193	NM_001371395.1(USP53):c.1467A>G (p.Gln489=)	USP53	Single nucleotide variant (synonymous 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 2974879	NM_001371395.1(USP53):c.1278G>C (p.Gly426=)	USP53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965790	NM_001371395.1(USP53):c.144+12A>C	USP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959092	NM_001371395.1(USP53):c.1435+19C>G	USP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919719	NM_001371395.1(USP53):c.2525C>T (p.Pro842Leu)	USP53 (P675L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2904192	NM_001371395.1(USP53):c.1770A>G (p.Thr590=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886710	NM_001371395.1(USP53):c.759C>T (p.Ser253=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868075	NM_001371395.1(USP53):c.2348+7A>G	USP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866724	NM_001371395.1(USP53):c.2388A>G (p.Ser796=)	USP53 (H764R +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2760373	NM_001371395.1(USP53):c.823-2del	USP53	Deletion (splice acceptor variant +1 more)	not provided	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 2727592	NM_001371395.1(USP53):c.2905C>A (p.Pro969Thr)	USP53 (P918T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2720900	NM_001371395.1(USP53):c.2118C>T (p.Ile706=)	USP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720144	NM_001371395.1(USP53):c.2766C>A (p.Pro922=)	USP53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716915	NM_001371395.1(USP53):c.363G>A (p.Ala121=)	USP53	Single nucleotide variant (synonymous 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 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 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2685127	GRCh37/hg19 4q26(chr4:120191741-120245035)x1	C4orf3, FABP2 +1 more	Copy number loss	not provided	GUncertain significance
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 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 2637328	NM_001371395.1(USP53):c.1636dup (p.Ile546fs)	USP53 (I379fs +4 more)	Duplication (frameshift variant)	USP53-related disorder	GLikely pathogenic
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 2610439	NM_001371395.1(USP53):c.2812G>A (p.Glu938Lys)	USP53 (E771K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2605988	NM_001371395.1(USP53):c.3191G>T (p.Ser1064Ile)	USP53 (S1064I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 2572008	NM_001371395.1(USP53):c.1744C>T (p.Arg582Ter)	USP53 (R415* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 2463560	NM_001371395.1(USP53):c.3137C>T (p.Thr1046Met)	USP53 (T1046M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2416773	NM_001371395.1(USP53):c.2985A>G (p.Thr995=)	USP53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2387506	NM_001371395.1(USP53):c.2525C>G (p.Pro842Arg)	USP53 (P842R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2310000	NM_001371395.1(USP53):c.2390C>G (p.Ser797Cys)	USP53 (P598A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2274072	NM_001371395.1(USP53):c.1780G>A (p.Asp594Asn)	USP53 (D478N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250162	NM_001371395.1(USP53):c.2611G>C (p.Gly871Arg)	USP53 (G704R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2200011	NM_001371395.1(USP53):c.1940A>G (p.Lys647Arg)	USP53 (K531R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2170764	NM_001371395.1(USP53):c.1218G>A (p.Gln406=)	USP53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2170285	NM_001371395.1(USP53):c.2533G>A (p.Val845Ile)	USP53 (V729I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2145865	NM_001371395.1(USP53):c.3041T>C (p.Ile1014Thr)	USP53 (I847T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2135314	NM_001371395.1(USP53):c.2886T>G (p.Ser962Arg)	USP53 (S912R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2115860	NM_001371395.1(USP53):c.2348+17del	USP53	Deletion (intron variant)	not provided	GBenign
Select item 2096876	NM_001371395.1(USP53):c.2918T>G (p.Val973Gly)	USP53 (V973G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2075241	NM_001371395.1(USP53):c.2068dup (p.Ser690fs)	USP53 (S574fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic

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