ClinVar for Gene (Select 124739) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187680	NM_153210.5(USP43):c.955G>A (p.Val319Ile)	LOC126862489, USP43 (V319I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187679	NM_153210.5(USP43):c.62G>C (p.Arg21Pro)	USP43 (R21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187678	NM_153210.5(USP43):c.607G>A (p.Gly203Ser)	USP43 (G203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187677	NM_153210.5(USP43):c.58C>G (p.Arg20Gly)	USP43 (R20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187676	NM_153210.5(USP43):c.499T>C (p.Phe167Leu)	USP43 (F167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187675	NM_153210.5(USP43):c.3341G>A (p.Arg1114Gln)	USP43 (R1114Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187674	NM_153210.5(USP43):c.3220C>T (p.Arg1074Cys)	USP43 (R1074C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187673	NM_153210.5(USP43):c.3097G>T (p.Ala1033Ser)	USP43 (A1028S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187672	NM_153210.5(USP43):c.2971C>T (p.Pro991Ser)	USP43 (P986S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187671	NM_153210.5(USP43):c.2954C>T (p.Thr985Ile)	USP43 (T980I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187670	NM_153210.5(USP43):c.2873G>A (p.Ser958Asn)	USP43 (S958N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187669	NM_153210.5(USP43):c.284C>T (p.Ala95Val)	USP43 (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187668	NM_153210.5(USP43):c.2798T>G (p.Leu933Arg)	USP43 (L928R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187667	NM_153210.5(USP43):c.2611G>A (p.Ala871Thr)	USP43 (A871T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187666	NM_153210.5(USP43):c.2561C>T (p.Thr854Met)	USP43 (T854M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187665	NM_153210.5(USP43):c.2473C>A (p.Pro825Thr)	USP43 (P825T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187664	NM_153210.5(USP43):c.2171G>C (p.Gly724Ala)	USP43 (G719A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187663	NM_153210.5(USP43):c.2119T>C (p.Tyr707His)	USP43 (Y702H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187662	NM_153210.5(USP43):c.2014T>C (p.Tyr672His)	USP43 (Y672H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187661	NM_153210.5(USP43):c.1940C>T (p.Pro647Leu)	LOC126862490, USP43 (P647L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187659	NM_153210.5(USP43):c.1505C>T (p.Ala502Val)	USP43 (A502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187658	NM_153210.5(USP43):c.1193T>C (p.Val398Ala)	USP43 (V398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187657	NM_153210.5(USP43):c.1042G>A (p.Ala348Thr)	USP43 (A348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2647466	NM_153210.5(USP43):c.2106T>G (p.Ala702=)	USP43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606461	NM_153210.5(USP43):c.2837G>A (p.Arg946Gln)	USP43 (R941Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597629	NM_153210.5(USP43):c.236G>A (p.Arg79His)	USP43 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597020	NM_153210.5(USP43):c.2342T>G (p.Leu781Trp)	USP43 (L781W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2557600	NM_153210.5(USP43):c.995G>T (p.Ser332Ile)	USP43 (S332I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546539	NM_153210.5(USP43):c.2701C>G (p.Leu901Val)	USP43 (L896V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534722	NM_153210.5(USP43):c.410C>T (p.Ala137Val)	USP43 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534103	NM_153210.5(USP43):c.2462C>A (p.Ser821Tyr)	USP43 (S821Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531557	NM_153210.5(USP43):c.3056A>G (p.Gln1019Arg)	USP43 (Q1014R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521977	NM_153210.5(USP43):c.2359G>A (p.Val787Ile)	USP43 (V782I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508372	NM_153210.5(USP43):c.2693A>C (p.Asn898Thr)	USP43 (N893T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508020	NM_153210.5(USP43):c.1231C>A (p.Gln411Lys)	USP43 (Q411K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491580	NM_153210.5(USP43):c.1916C>G (p.Pro639Arg)	LOC126862490, USP43 (P639R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485149	NM_153210.5(USP43):c.2527C>T (p.Arg843Trp)	USP43 (R838W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484860	NM_153210.5(USP43):c.2368G>T (p.Val790Leu)	USP43 (V785L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478011	NM_153210.5(USP43):c.124G>A (p.Gly42Arg)	USP43 (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460544	NM_153210.5(USP43):c.3004G>A (p.Val1002Met)	USP43 (V1002M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411798	NM_153210.5(USP43):c.2722G>A (p.Gly908Ser)	USP43 (G908S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407832	NM_153210.5(USP43):c.2846G>A (p.Gly949Asp)	USP43 (G944D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394376	NM_153210.5(USP43):c.101C>A (p.Ala34Glu)	USP43 (A34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391039	NM_153210.5(USP43):c.2072C>T (p.Pro691Leu)	USP43 (P686L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378549	NM_153210.5(USP43):c.88C>G (p.Arg30Gly)	USP43 (R30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371350	NM_153210.5(USP43):c.1903T>C (p.Ser635Pro)	LOC126862490, USP43 (S635P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366677	NM_153210.5(USP43):c.2446C>T (p.Arg816Trp)	USP43 (R811W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365258	NM_153210.5(USP43):c.2363G>A (p.Arg788Gln)	USP43 (R783Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353739	NM_153210.5(USP43):c.1430G>A (p.Arg477Gln)	USP43 (R477Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352742	NM_153210.5(USP43):c.734A>T (p.Gln245Leu)	USP43 (Q245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349588	NM_153210.5(USP43):c.2078G>A (p.Arg693Gln)	USP43 (R693Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341324	NM_153210.5(USP43):c.2368G>A (p.Val790Met)	USP43 (V785M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329401	NM_153210.5(USP43):c.112C>G (p.Arg38Gly)	USP43 (R38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327886	NM_153210.5(USP43):c.932A>G (p.Lys311Arg)	LOC126862489, USP43 (K311R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315057	NM_153210.5(USP43):c.2642G>A (p.Arg881Gln)	USP43 (R876Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310711	NM_153210.5(USP43):c.438G>T (p.Gln146His)	USP43 (Q146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282430	NM_153210.5(USP43):c.1789G>A (p.Glu597Lys)	LOC126862490, USP43 (E597K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270123	NM_153210.5(USP43):c.1306A>G (p.Ile436Val)	USP43 (I436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269682	NM_153210.5(USP43):c.88C>T (p.Arg30Cys)	USP43 (R30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262995	NM_153210.5(USP43):c.541A>G (p.Asn181Asp)	USP43 (N181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259275	NM_153210.5(USP43):c.1135C>T (p.Arg379Cys)	USP43 (R379C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240797	NM_153210.5(USP43):c.178G>A (p.Gly60Ser)	USP43 (G60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240011	NM_153210.5(USP43):c.38C>A (p.Pro13Gln)	USP43 (P13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235735	NM_153210.5(USP43):c.2764G>A (p.Asp922Asn)	USP43 (D917N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235045	NM_153210.5(USP43):c.2110A>G (p.Ile704Val)	USP43 (I704V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234715	NM_153210.5(USP43):c.814A>G (p.Ile272Val)	USP43 (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210200	NM_153210.5(USP43):c.2731A>G (p.Thr911Ala)	USP43 (T911A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 980125	GRCh37/hg19 17p13.1(chr17:9158081-9611315)x3	USP43, CFAP52 +1 more	Copy number gain	not provided	GUncertain significance
Select item 777130	NM_153210.5(USP43):c.1350A>T (p.Val450=)	USP43	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717507	NM_153210.5(USP43):c.2487C>T (p.Ser829=)	USP43	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708554	NM_153210.5(USP43):c.3059T>C (p.Val1020Ala)	USP43 (V1015A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 84