USP13[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 12819	NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	LINC01206, ACTL6A +44 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2305201	NM_003940.3(USP13):c.11G>A (p.Arg4Gln)	USP13 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354684	NM_003940.3(USP13):c.16G>T (p.Ala6Ser)	USP13 (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277653	NM_003940.3(USP13):c.41G>A (p.Ser14Asn)	USP13 (S14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187152	NM_003940.3(USP13):c.61G>A (p.Ala21Thr)	USP13 (A21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220781	NM_003940.3(USP13):c.80T>G (p.Leu27Arg)	USP13 (L27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470620	NM_003940.3(USP13):c.160G>A (p.Asp54Asn)	USP13 (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331322	NM_003940.3(USP13):c.161A>C (p.Asp54Ala)	USP13 (D54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489483	NM_003940.3(USP13):c.179G>A (p.Gly60Asp)	USP13 (G60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484510	NM_003940.3(USP13):c.376T>G (p.Leu126Val)	USP13 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402684	NM_003940.3(USP13):c.544T>C (p.Trp182Arg)	USP13 (W182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488655	NM_003940.3(USP13):c.628A>G (p.Lys210Glu)	USP13 (K210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708775	NM_003940.3(USP13):c.642C>T (p.Cys214=)	USP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187153	NM_003940.3(USP13):c.716C>T (p.Ser239Phe)	USP13 (S239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187154	NM_003940.3(USP13):c.721G>T (p.Gly241Cys)	USP13 (G241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486455	NM_003940.3(USP13):c.741G>T (p.Glu247Asp)	USP13 (E247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334157	NM_003940.3(USP13):c.812A>T (p.Tyr271Phe)	USP13 (Y271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187155	NM_003940.3(USP13):c.884T>C (p.Met295Thr)	USP13 (M295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225445	NM_003940.3(USP13):c.904G>A (p.Glu302Lys)	USP13 (E302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611675	NM_003940.3(USP13):c.959T>C (p.Ile320Thr)	USP13 (I320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336665	NM_003940.3(USP13):c.971G>A (p.Gly324Asp)	USP13 (G324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331325	NM_003940.3(USP13):c.1007C>T (p.Thr336Met)	USP13 (T336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187142	NM_003940.3(USP13):c.1052T>C (p.Met351Thr)	USP13 (M351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331326	NM_003940.3(USP13):c.1232A>C (p.Gln411Pro)	USP13 (Q411P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270632	NM_003940.3(USP13):c.1234G>A (p.Val412Met)	USP13 (V412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213990	NM_003940.3(USP13):c.1279C>T (p.Arg427Cys)	USP13 (R427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187143	NM_003940.3(USP13):c.1313C>T (p.Pro438Leu)	USP13 (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521476	NM_003940.3(USP13):c.1331G>A (p.Arg444Lys)	USP13 (R444K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331327	NM_003940.3(USP13):c.1454A>G (p.Gln485Arg)	USP13 (Q485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402046	NM_003940.3(USP13):c.1459C>T (p.Arg487Trp)	USP13 (R487W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331331	NM_003940.3(USP13):c.1460G>A (p.Arg487Gln)	USP13 (R487Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187144	NM_003940.3(USP13):c.1468C>T (p.Arg490Cys)	USP13 (R490C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788976	NM_003940.3(USP13):c.1476G>A (p.Thr492=)	USP13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3187145	NM_003940.3(USP13):c.1487A>G (p.Asp496Gly)	USP13 (D496G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346160	NM_003940.3(USP13):c.1497G>A (p.Met499Ile)	USP13 (M499I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475594	NM_003940.3(USP13):c.1547C>T (p.Ala516Val)	USP13 (A516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510156	NM_003940.3(USP13):c.1559C>G (p.Thr520Arg)	USP13 (T520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342212	NM_003940.3(USP13):c.1597G>C (p.Glu533Gln)	USP13 (E533Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510118	NM_003940.3(USP13):c.1607G>A (p.Arg536His)	USP13 (R536H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508264	NM_003940.3(USP13):c.1732C>G (p.Pro578Ala)	USP13 (P578A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546360	NM_003940.3(USP13):c.1750C>A (p.Gln584Lys)	USP13 (Q584K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307038	NM_003940.3(USP13):c.1829A>G (p.Asp610Gly)	USP13 (D610G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386572	NM_003940.3(USP13):c.1844G>A (p.Arg615Gln)	USP13 (R615Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394091	NM_003940.3(USP13):c.1875A>C (p.Glu625Asp)	USP13 (E625D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211223	NM_003940.3(USP13):c.1885A>G (p.Ile629Val)	USP13 (I629V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361002	NM_003940.3(USP13):c.1891C>A (p.Pro631Thr)	USP13 (P631T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771858	NM_003940.3(USP13):c.1921+5C>T	USP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3187147	NM_003940.3(USP13):c.1967C>T (p.Ser656Leu)	USP13 (S656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353711	NM_003940.3(USP13):c.2047G>A (p.Ala683Thr)	USP13 (A683T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187148	NM_003940.3(USP13):c.2080A>G (p.Met694Val)	USP13 (M694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331328	NM_003940.3(USP13):c.2105C>T (p.Pro702Leu)	USP13 (P702L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187149	NM_003940.3(USP13):c.2131G>C (p.Ala711Pro)	USP13 (A711P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267002	NM_003940.3(USP13):c.2159G>A (p.Gly720Asp)	USP13 (G720D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187150	NM_003940.3(USP13):c.2197G>A (p.Val733Ile)	USP13 (V733I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331324	NM_003940.3(USP13):c.2300A>G (p.His767Arg)	USP13 (H767R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331323	NM_003940.3(USP13):c.2325T>A (p.Asp775Glu)	USP13 (D775E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331321	NM_003940.3(USP13):c.2383G>A (p.Glu795Lys)	USP13 (E795K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331329	NM_003940.3(USP13):c.2390C>G (p.Pro797Arg)	USP13 (P797R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980553	GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1	MRPL47, DNAJC19 +12 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 638139	GRCh37/hg19 3q26.32-26.33(chr3:178869440-179400345)x3	ZNF639, ACTL6A +7 more	Copy number gain	See cases	GUncertain significance
Select item 562845	GRCh37/hg19 3q26.32-26.33(chr3:178990782-179443371)x3	ZNF639, ACTL6A +5 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 88