USP28[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 2212419	NM_001346252.4(USP28):c.3310G>A (p.Val1104Ile)	USP28 (V1007I +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253699	NM_001346252.4(USP28):c.3268G>C (p.Glu1090Gln)	USP28 (E1002Q +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536791	NM_001346252.4(USP28):c.3260G>A (p.Cys1087Tyr)	USP28 (C1022Y +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786926	NM_001346252.4(USP28):c.3102A>T (p.Val1034=)	USP28	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3187342	NM_001346252.4(USP28):c.3032G>A (p.Arg1011Gln)	USP28 (R506Q +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257236	NM_001346252.4(USP28):c.3016G>A (p.Val1006Met)	USP28 (V579M +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494742	NM_001346252.4(USP28):c.3008A>T (p.Lys1003Ile)	USP28 (K557I +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330747	NM_001346252.4(USP28):c.2999G>A (p.Arg1000Gln)	USP28 (R573Q +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551900	NM_001346252.4(USP28):c.2998C>T (p.Arg1000Trp)	USP28 (R554W +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187341	NM_001346252.4(USP28):c.2989G>A (p.Gly997Arg)	USP28 (G750R +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548672	NM_001346252.4(USP28):c.2985G>C (p.Met995Ile)	USP28 (M581I +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616439	NM_001346252.4(USP28):c.2871C>A (p.Phe957Leu)	USP28 (F562L +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348533	NM_001346252.4(USP28):c.2795C>T (p.Ala932Val)	USP28 (A599V +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331420	NM_001346252.4(USP28):c.2770A>G (p.Ile924Val)	USP28 (I419V +36 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369305	NM_001346252.4(USP28):c.2567C>T (p.Ser856Phe)	USP28 (S504F +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331421	NM_001346252.4(USP28):c.2532A>G (p.Ile844Met)	USP28 (I339M +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471791	NM_001346252.4(USP28):c.2509A>T (p.Met837Leu)	USP28 (M442L +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213733	NM_001346252.4(USP28):c.2264G>A (p.Arg755His)	USP28 (R312H +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187339	NM_001346252.4(USP28):c.2216C>T (p.Ala739Val)	USP28 (A452V +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471754	NM_001346252.4(USP28):c.2165A>G (p.Glu722Gly)	USP28 (E537G +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454610	NM_001346252.4(USP28):c.2069A>G (p.Gln690Arg)	USP28 (Q403R +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187337	NM_001346252.4(USP28):c.2060G>A (p.Arg687Gln)	USP28 (R244Q +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368941	NM_001346252.4(USP28):c.2045A>G (p.Gln682Arg)	USP28 (Q330R +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515692	NM_001346252.4(USP28):c.2023G>A (p.Val675Met)	USP28 (V388M +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395792	NM_001346252.4(USP28):c.2001G>A (p.Met667Ile)	USP28 (M380I +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187336	NM_001346252.4(USP28):c.1829G>A (p.Arg610Gln)	USP28 (R258Q +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187335	NM_001346252.4(USP28):c.1790A>C (p.Asn597Thr)	USP28 (N245T +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222540	NM_001346252.4(USP28):c.1719G>A (p.Met573Ile)	USP28 (M286I +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187334	NM_001346252.4(USP28):c.1667T>C (p.Ile556Thr)	USP28 (I371T +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252668	NM_001346252.4(USP28):c.1564A>G (p.Met522Val)	USP28 (M170V +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476857	NM_001346252.4(USP28):c.1556G>A (p.Arg519Gln)	USP28 (R365Q +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187333	NM_001346252.4(USP28):c.1472C>T (p.Thr491Ile)	USP28 (T279I +20 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187332	NM_001346252.4(USP28):c.1406T>C (p.Met469Thr)	USP28 (M136T +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356653	NM_001346252.4(USP28):c.1402C>A (p.His468Asn)	USP28 (H469N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546944	NM_001346252.4(USP28):c.1350A>T (p.Glu450Asp)	USP28 (E425D +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187331	NM_001346252.4(USP28):c.1270C>G (p.Gln424Glu)	USP28 (Q422E +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221488	NM_001346252.4(USP28):c.1223A>C (p.Lys408Thr)	USP28 (K196T +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331422	NM_001346252.4(USP28):c.1047G>C (p.Lys349Asn)	USP28 (K195N +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187328	NM_001346252.4(USP28):c.1033G>A (p.Asp345Asn)	USP28 (D133N +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2642382	NM_001346252.4(USP28):c.1023T>G (p.Leu341=)	USP28	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3187347	NM_001346252.4(USP28):c.696T>G (p.Phe232Leu)	USP28 (F107L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187346	NM_001346252.4(USP28):c.695T>C (p.Phe232Ser)	USP28 (F206S +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458415	NM_001346252.4(USP28):c.619A>G (p.Thr207Ala)	USP28 (T82A +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2328977	NM_001346252.4(USP28):c.611G>A (p.Arg204Gln)	USP28 (R204Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3187344	NM_001346252.4(USP28):c.592A>C (p.Asn198His)	USP28 (N172H +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 161740	NM_001346252.4(USP28):c.571C>T (p.Leu191Phe)	USP28 (L191F +3 more)	Single nucleotide variant (missense variant +3 more)	Malignant tumor of prostate	GUncertain significance
Select item 2510410	NM_001346252.4(USP28):c.506A>G (p.Asn169Ser)	USP28 (N143S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187343	NM_001346252.4(USP28):c.406C>T (p.Arg136Cys)	USP28 (R133C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618881	NM_001346252.4(USP28):c.310G>A (p.Ala104Thr)	USP28 (A101T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331423	NM_001346252.4(USP28):c.301G>T (p.Asp101Tyr)	USP28 (D75Y +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2381648	NM_001346252.4(USP28):c.274A>G (p.Ile92Val)	USP28 (I66V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187340	NM_001346252.4(USP28):c.265G>A (p.Ala89Thr)	USP28 (A63T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2300466	NM_001346252.4(USP28):c.247G>T (p.Ala83Ser)	USP28 (A83S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3187338	NM_001346252.4(USP28):c.218C>T (p.Thr73Ile)	USP28 (T47I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2555528	NM_001346252.4(USP28):c.218C>G (p.Thr73Arg)	USP28 (T73R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2492578	NM_001346252.4(USP28):c.217A>G (p.Thr73Ala)	USP28 (T70A +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2463202	NM_001346252.4(USP28):c.148G>T (p.Asp50Tyr)	USP28 (D50Y +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3187330	NM_001346252.4(USP28):c.109C>T (p.Pro37Ser)	USP28 (P34S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2455114	NM_001346252.4(USP28):c.93C>G (p.Ile31Met)	USP28 (I28M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2555419	NM_001346252.4(USP28):c.44A>T (p.Asp15Val)	LOC111982893, USP28 (D15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2205648	NM_001346252.4(USP28):c.32C>T (p.Ala11Val)	LOC111982893, USP28 (A11V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1809197	GRCh37/hg19 11q23.2(chr11:113675419-113760958)x1	USP28	Copy number loss	not provided	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979325	GRCh37/hg19 11q23.2(chr11:113665729-113872869)x3	HTR3B, HTR3A +1 more	Copy number gain	not provided	GLikely benign
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 80