USP5[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 2273952	NM_001098536.2(USP5):c.11T>C (p.Leu4Pro)	USP5 (L4P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 783654	NM_001098536.2(USP5):c.54C>T (p.Val18=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2642640	NM_001098536.2(USP5):c.60G>A (p.Lys20=)	USP5	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2322410	NM_001098536.2(USP5):c.192G>T (p.Lys64Asn)	USP5 (K18N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331611	NM_001098536.2(USP5):c.223C>T (p.Arg75Trp)	USP5 (R75W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407082	NM_001098536.2(USP5):c.236C>T (p.Pro79Leu)	USP5 (P33L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 732659	NM_001098536.2(USP5):c.261C>T (p.Gly87=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2306132	NM_001098536.2(USP5):c.277C>G (p.Arg93Gly)	USP5 (R93G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519864	NM_001098536.2(USP5):c.278G>A (p.Arg93Gln)	USP5 (R47Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187740	NM_001098536.2(USP5):c.316G>A (p.Gly106Arg)	USP5 (G106R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331612	NM_001098536.2(USP5):c.351C>A (p.Asp117Glu)	USP5 (D117E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187741	NM_001098536.2(USP5):c.520C>T (p.Arg174Trp)	USP5 (R128W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529248	NM_001098536.2(USP5):c.958C>A (p.Leu320Met)	USP5 (L278M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781061	NM_001098536.2(USP5):c.1138C>T (p.Leu380=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2325576	NM_001098536.2(USP5):c.1180C>A (p.Pro394Thr)	USP5 (P348T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393568	NM_001098536.2(USP5):c.1181C>T (p.Pro394Leu)	USP5 (P348L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187733	NM_001098536.2(USP5):c.1292A>G (p.Asn431Ser)	USP5 (N431S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729178	NM_001098536.2(USP5):c.1465C>T (p.Leu489=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187734	NM_001098536.2(USP5):c.1483G>A (p.Ala495Thr)	USP5 (A449T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391709	NM_001098536.2(USP5):c.1525A>C (p.Lys509Gln)	USP5 (K463Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367898	NM_001098536.2(USP5):c.1529G>A (p.Arg510Gln)	USP5 (R510Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331614	NM_001098536.2(USP5):c.1548G>T (p.Lys516Asn)	USP5 (K470N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339188	NM_001098536.2(USP5):c.1607A>G (p.Tyr536Cys)	USP5 (Y490C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187735	NM_001098536.2(USP5):c.1646C>T (p.Ala549Val)	USP5 (A503V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331613	NM_001098536.2(USP5):c.1690T>A (p.Ser564Thr)	USP5 (S540T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322409	NM_001098536.2(USP5):c.1740A>C (p.Leu580Phe)	USP5 (L556F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524013	NM_001098536.2(USP5):c.1748T>C (p.Val583Ala)	USP5 (V537A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509767	NM_001098536.2(USP5):c.1825C>T (p.Pro609Ser)	USP5 (P567S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781062	NM_001098536.2(USP5):c.1827C>T (p.Pro609=)	USP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2311208	NM_001098536.2(USP5):c.1843C>G (p.Pro615Ala)	USP5 (P569A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187736	NM_001098536.2(USP5):c.1952C>T (p.Thr651Ile)	USP5 (T609I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187737	NM_001098536.2(USP5):c.2009T>C (p.Met670Thr)	USP5 (M601T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621999	NM_001098536.2(USP5):c.2020C>T (p.Arg674Cys)	USP5 (R650C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293542	NM_001098536.2(USP5):c.2021G>A (p.Arg674His)	USP5 (R605H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331615	NM_001098536.2(USP5):c.2152G>A (p.Ala718Thr)	USP5 (A718T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613188	NM_001098536.2(USP5):c.2161G>A (p.Asp721Asn)	USP5 (D679N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282648	NM_001098536.2(USP5):c.2332C>T (p.Arg778Cys)	USP5 (R755C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187738	NM_001098536.2(USP5):c.2350A>G (p.Ile784Val)	USP5 (I719V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187739	NM_001098536.2(USP5):c.2445G>A (p.Met815Ile)	USP5 (M791I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253454	NM_001098536.2(USP5):c.2540T>C (p.Leu847Pro)	USP5 (L782P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063252	GRCh37/hg19 12p13.31(chr12:6691292-6992208)x3	ACRBP, CD4 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527683	GRCh37/hg19 12p13.31(chr12:6872634-7244086)	ATN1, C12orf57 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	C3AR1, CD163 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1374034	NC_000012.11:g.(?_6950452)_(6979547_?)dup	CDCA3, GNB3 +2 more	Duplication	not provided	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 685583	GRCh37/hg19 12p13.31(chr12:6872484-7009333)x3	CD4, CDCA3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 93