USP42[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	ACTB, AIMP2 +78 more	Copy number gain	See cases	GUncertain significance
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 2385848	NM_032172.3(USP42):c.65G>A (p.Ser22Asn)	USP42 (S22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657296	NM_032172.3(USP42):c.153A>G (p.Thr51=)	USP42	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3187632	NM_032172.3(USP42):c.259G>A (p.Ala87Thr)	USP42 (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465047	NM_032172.3(USP42):c.299G>A (p.Cys100Tyr)	USP42 (C100Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342800	NM_032172.3(USP42):c.326T>C (p.Val109Ala)	USP42 (V109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463629	NM_032172.3(USP42):c.529A>G (p.Met177Val)	USP42 (M177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321021	NM_032172.3(USP42):c.534T>G (p.Phe178Leu)	USP42 (F178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187655	NM_032172.3(USP42):c.542A>G (p.Asn181Ser)	USP42 (N181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58516	GRCh38/hg38 7p22.1(chr7:6137098-6398566)x1	CYTH3, FAM220A +11 more	Copy number loss	See cases	GPathogenic
Select item 3187656	NM_032172.3(USP42):c.566A>T (p.His189Leu)	USP42 (H189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208649	NM_032172.3(USP42):c.572G>A (p.Arg191His)	USP42 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271232	NM_032172.3(USP42):c.1018A>G (p.Ile340Val)	USP42 (I340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187613	NM_032172.3(USP42):c.1144C>T (p.Leu382Phe)	USP42 (L382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519625	NM_032172.3(USP42):c.1186A>G (p.Ile396Val)	USP42 (I396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331563	NM_032172.3(USP42):c.1277A>G (p.His426Arg)	USP42 (H426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346419	NM_032172.3(USP42):c.1379T>C (p.Met460Thr)	USP42 (M460T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230310	NM_032172.3(USP42):c.1420A>C (p.Lys474Gln)	LOC126859938, USP42 (K474Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257747	NM_032172.3(USP42):c.1456G>A (p.Gly486Arg)	LOC126859938, USP42 (G486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331559	NM_032172.3(USP42):c.1472A>G (p.Asn491Ser)	LOC126859938, USP42 (N491S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187614	NM_032172.3(USP42):c.1487T>C (p.Val496Ala)	LOC126859938, USP42 (V496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299117	NM_032172.3(USP42):c.1562A>G (p.Lys521Arg)	LOC126859938, USP42 (K521R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598973	NM_032172.3(USP42):c.1597C>G (p.Arg533Gly)	LOC126859938, USP42 (R533G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187615	NM_032172.3(USP42):c.1598G>T (p.Arg533Leu)	LOC126859938, USP42 (R533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187616	NM_032172.3(USP42):c.1615C>T (p.Pro539Ser)	LOC126859938, USP42 (P539S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187617	NM_032172.3(USP42):c.1625A>G (p.His542Arg)	LOC126859938, USP42 (H542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331577	NM_032172.3(USP42):c.1628G>A (p.Ser543Asn)	LOC126859938, USP42 (S543N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343972	NM_032172.3(USP42):c.1637T>C (p.Leu546Ser)	LOC126859938, USP42 (L546S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279658	NM_032172.3(USP42):c.1644C>A (p.Asn548Lys)	LOC126859938, USP42 (N548K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187618	NM_032172.3(USP42):c.1649C>G (p.Thr550Ser)	LOC126859938, USP42 (T550S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598525	NM_032172.3(USP42):c.1657G>A (p.Val553Ile)	LOC126859938, USP42 (V553I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187619	NM_032172.3(USP42):c.1666T>C (p.Ser556Pro)	LOC126859938, USP42 (S556P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287243	NM_032172.3(USP42):c.1667C>G (p.Ser556Cys)	LOC126859938, USP42 (S556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470649	NM_032172.3(USP42):c.1712C>T (p.Thr571Met)	LOC126859938, USP42 (T571M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187620	NM_032172.3(USP42):c.1723T>A (p.Ser575Thr)	LOC126859938, USP42 (S575T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377317	NM_032172.3(USP42):c.1742C>T (p.Pro581Leu)	LOC126859938, USP42 (P581L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331566	NM_032172.3(USP42):c.1748C>G (p.Pro583Arg)	LOC126859938, USP42 (P583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187621	NM_032172.3(USP42):c.1750C>T (p.Arg584Cys)	LOC126859938, USP42 (R584C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403634	NM_032172.3(USP42):c.1807G>A (p.Val603Met)	LOC126859938, USP42 (V603M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331581	NM_032172.3(USP42):c.1828G>A (p.Glu610Lys)	LOC126859938, USP42 (E610K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474564	NM_032172.3(USP42):c.1849G>A (p.Glu617Lys)	LOC126859938, USP42 (E617K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776596	NM_032172.3(USP42):c.1884T>A (p.Ile628=)	LOC126859938, USP42	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409466	NM_032172.3(USP42):c.1889C>T (p.Thr630Met)	LOC126859938, USP42 (T630M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331565	NM_032172.3(USP42):c.1912G>A (p.Gly638Ser)	LOC126859938, USP42 (G638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187622	NM_032172.3(USP42):c.1943C>T (p.Pro648Leu)	LOC126859938, USP42 (P648L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600554	NM_032172.3(USP42):c.2006C>T (p.Pro669Leu)	LOC126859938, USP42 (P669L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343650	NM_032172.3(USP42):c.2026C>T (p.Pro676Ser)	LOC126859938, USP42 (P676S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187624	NM_032172.3(USP42):c.2063A>C (p.His688Pro)	LOC126859938, USP42 (H688P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187625	NM_032172.3(USP42):c.2065T>G (p.Ser689Ala)	LOC126859938, USP42 (S689A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316172	NM_032172.3(USP42):c.2089A>G (p.Asn697Asp)	LOC126859938, USP42 (N697D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362258	NM_032172.3(USP42):c.2189C>T (p.Thr730Met)	LOC126859938, USP42 (T730M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341389	NM_032172.3(USP42):c.2255C>G (p.Pro752Arg)	USP42 (P752R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548069	NM_032172.3(USP42):c.2269G>A (p.Ala757Thr)	USP42 (A757T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523492	NM_032172.3(USP42):c.2273A>C (p.Glu758Ala)	USP42 (E758A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601978	NM_032172.3(USP42):c.2309G>A (p.Ser770Asn)	USP42 (S770N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187626	NM_032172.3(USP42):c.2395G>A (p.Glu799Lys)	USP42 (E799K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614262	NM_032172.3(USP42):c.2446C>T (p.Pro816Ser)	USP42 (P816S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187627	NM_032172.3(USP42):c.2474C>T (p.Thr825Ile)	USP42 (T825I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187628	NM_032172.3(USP42):c.2489C>T (p.Pro830Leu)	USP42 (P830L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331576	NM_032172.3(USP42):c.2519C>T (p.Ala840Val)	USP42 (A840V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293578	NM_032172.3(USP42):c.2525G>A (p.Gly842Asp)	USP42 (G842D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331570	NM_032172.3(USP42):c.2528C>T (p.Pro843Leu)	USP42 (P843L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187629	NM_032172.3(USP42):c.2546C>T (p.Ala849Val)	USP42 (A849V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187630	NM_032172.3(USP42):c.2554C>T (p.Pro852Ser)	USP42 (P852S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187631	NM_032172.3(USP42):c.2572G>A (p.Ala858Thr)	USP42 (A858T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331574	NM_032172.3(USP42):c.2595G>T (p.Glu865Asp)	USP42 (E865D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331572	NM_032172.3(USP42):c.2632G>A (p.Asp878Asn)	USP42 (D878N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187633	NM_032172.3(USP42):c.2632G>T (p.Asp878Tyr)	USP42 (D878Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322168	NM_032172.3(USP42):c.2635C>G (p.His879Asp)	USP42 (H879D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350539	NM_032172.3(USP42):c.2638G>C (p.Ala880Pro)	USP42 (A880P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463591	NM_032172.3(USP42):c.2645A>T (p.Asp882Val)	USP42 (D882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331568	NM_032172.3(USP42):c.2675C>T (p.Ala892Val)	USP42 (A892V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322259	NM_032172.3(USP42):c.2692C>T (p.Arg898Trp)	USP42 (R898W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467655	NM_032172.3(USP42):c.2701G>A (p.Ala901Thr)	USP42 (A901T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187634	NM_032172.3(USP42):c.2702C>T (p.Ala901Val)	USP42 (A901V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395835	NM_032172.3(USP42):c.2716A>T (p.Met906Leu)	USP42 (M906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331575	NM_032172.3(USP42):c.2722C>A (p.Pro908Thr)	USP42 (P908T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488421	NM_032172.3(USP42):c.2745C>A (p.Asp915Glu)	USP42 (D915E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219382	NM_032172.3(USP42):c.2746G>A (p.Ala916Thr)	USP42 (A916T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187635	NM_032172.3(USP42):c.2755A>G (p.Ser919Gly)	USP42 (S919G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275603	NM_032172.3(USP42):c.2756G>T (p.Ser919Ile)	USP42 (S919I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405965	NM_032172.3(USP42):c.2761G>A (p.Gly921Ser)	USP42 (G921S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187636	NM_032172.3(USP42):c.2763C>T (p.Gly921=)	USP42	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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