USP20[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 2514868	NM_001110303.4(USP20):c.17A>T (p.Asp6Val)	USP20 (D6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351928	NM_001110303.4(USP20):c.206A>G (p.Lys69Arg)	USP20 (K69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588301	NM_001110303.4(USP20):c.220G>A (p.Val74Met)	USP20 (V74M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717919	NM_001110303.4(USP20):c.308C>A (p.Ser103Tyr)	USP20 (S103Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2255262	NM_001110303.4(USP20):c.338C>T (p.Pro113Leu)	USP20 (P113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601678	NM_001110303.4(USP20):c.439A>G (p.Met147Val)	USP20 (M147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713867	NM_001110303.4(USP20):c.535C>T (p.Leu179=)	LOC130002774, USP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2464336	NM_001110303.4(USP20):c.667A>G (p.Met223Val)	USP20 (M223V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618701	NM_001110303.4(USP20):c.730C>T (p.His244Tyr)	USP20 (H244Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462136	NM_001110303.4(USP20):c.749C>T (p.Pro250Leu)	USP20 (P250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205290	NM_001110303.4(USP20):c.863C>T (p.Ser288Leu)	USP20 (S288L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707949	NM_001110303.4(USP20):c.864G>A (p.Ser288=)	USP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2372397	NM_001110303.4(USP20):c.889G>A (p.Gly297Arg)	USP20 (G297R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366700	NM_001110303.4(USP20):c.922G>A (p.Glu308Lys)	USP20 (E308K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455106	NM_001110303.4(USP20):c.988C>G (p.Arg330Gly)	USP20 (R330G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512491	NM_001110303.4(USP20):c.1084G>A (p.Ala362Thr)	USP20 (A362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 722847	NM_001110303.4(USP20):c.1086G>A (p.Ala362=)	USP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790844	NM_001110303.4(USP20):c.1101G>A (p.Pro367=)	USP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2293400	NM_001110303.4(USP20):c.1109G>A (p.Arg370Gln)	USP20 (R370Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514346	NM_001110303.4(USP20):c.1129A>G (p.Thr377Ala)	USP20 (T377A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392477	NM_001110303.4(USP20):c.1130C>T (p.Thr377Met)	USP20 (T377M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376255	NM_001110303.4(USP20):c.1171C>T (p.Arg391Cys)	USP20 (R391C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464526	NM_001110303.4(USP20):c.1212G>C (p.Lys404Asn)	USP20 (K404N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395178	NM_001110303.4(USP20):c.1224C>G (p.Ser408Arg)	USP20 (S408R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314313	NM_001110303.4(USP20):c.1226C>G (p.Pro409Arg)	USP20 (P409R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272926	NM_001110303.4(USP20):c.1264G>A (p.Val422Met)	USP20 (V422M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244498	NM_001110303.4(USP20):c.1369G>C (p.Val457Leu)	USP20 (V457L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358829	NM_001110303.4(USP20):c.1412C>T (p.Thr471Met)	USP20 (T471M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203994	NM_001110303.4(USP20):c.1546A>G (p.Ile516Val)	USP20 (I516V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393826	NM_001110303.4(USP20):c.1564C>T (p.Arg522Trp)	USP20 (R522W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343061	NM_001110303.4(USP20):c.1685G>A (p.Arg562Gln)	USP20 (R562Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610114	NM_001110303.4(USP20):c.1745T>C (p.Leu582Pro)	USP20 (L582P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302581	NM_001110303.4(USP20):c.1951G>A (p.Val651Met)	USP20 (V651M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340519	NM_001110303.4(USP20):c.1990G>A (p.Val664Ile)	USP20 (V664I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300936	NM_001110303.4(USP20):c.2028G>C (p.Glu676Asp)	USP20 (E676D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210477	NM_001110303.4(USP20):c.2065G>T (p.Ala689Ser)	USP20 (A689S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204677	NM_001110303.4(USP20):c.2102C>G (p.Ala701Gly)	USP20 (A701G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255261	NM_001110303.4(USP20):c.2171C>T (p.Ala724Val)	USP20 (A724V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370409	NM_001110303.4(USP20):c.2278G>A (p.Val760Ile)	USP20 (V760I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273697	NM_001110303.4(USP20):c.2320G>A (p.Val774Met)	USP20 (V774M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399272	NM_001110303.4(USP20):c.2378G>A (p.Arg793His)	USP20 (R793H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570251	NM_001110303.4(USP20):c.2408A>G (p.Lys803Arg)	USP20 (K803R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553639	NM_001110303.4(USP20):c.2431G>A (p.Glu811Lys)	USP20 (E811K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380687	NM_001110303.4(USP20):c.2489C>T (p.Ala830Val)	USP20 (A830V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290297	NM_001110303.4(USP20):c.2576T>C (p.Leu859Pro)	USP20 (L859P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219616	NM_001110303.4(USP20):c.2615C>T (p.Thr872Ile)	USP20 (T872I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312996	NM_001110303.4(USP20):c.2653G>A (p.Glu885Lys)	USP20 (E885K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596762	NM_001110303.4(USP20):c.2665C>T (p.Arg889Cys)	USP20 (R889C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253561	NM_001110303.4(USP20):c.2707G>A (p.Gly903Arg)	USP20 (G903R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784154	NM_001110303.4(USP20):c.2721C>T (p.Ile907=)	USP20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685365	GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1	ABL1, ASS1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 1808280	GRCh37/hg19 9q34.11(chr9:132449937-132807448)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 979878	GRCh37/hg19 9q34.11(chr9:132470092-133044256)x3	PRRX2, PTGES +7 more	Copy number gain	not provided	GUncertain significance
Select item 815299	GRCh37/hg19 9q34.11(chr9:132449936-132795093)x3	FNBP1, TOR1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 688893	GRCh37/hg19 9q34.11(chr9:132617807-132776337)x3	FNBP1, USP20	Copy number gain	not provided	GUncertain significance
Select item 687422	GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3	ASB6, ASS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685514	GRCh37/hg19 9q34.11(chr9:132449921-132793004)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 91