OTUD1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 2514828	NM_001145373.3(OTUD1):c.23G>C (p.Cys8Ser)	LOC130003513, OTUD1 (C8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303682	NM_001145373.3(OTUD1):c.30C>G (p.His10Gln)	LOC130003513, OTUD1 (H10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231618	NM_001145373.3(OTUD1):c.79G>C (p.Ala27Pro)	LOC130003513, OTUD1 (A27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037482	NM_001145373.3(OTUD1):c.84C>T (p.Ala28=)	LOC130003513, OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GBenign
Select item 3303684	NM_001145373.3(OTUD1):c.85G>C (p.Ala29Pro)	LOC130003513, OTUD1 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336072	NM_001145373.3(OTUD1):c.85G>T (p.Ala29Ser)	LOC130003513, OTUD1 (A29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046356	NM_001145373.3(OTUD1):c.112C>T (p.Pro38Ser)	LOC130003513, OTUD1 (P38S)	Single nucleotide variant (missense variant)	OTUD1-related disorder	GLikely benign
Select item 3207350	NM_001145373.3(OTUD1):c.137C>T (p.Pro46Leu)	LOC130003513, OTUD1 (P46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343894	NM_001145373.3(OTUD1):c.140A>C (p.Glu47Ala)	LOC130003513, OTUD1 (E47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242612	NM_001145373.3(OTUD1):c.172G>A (p.Ala58Thr)	LOC130003513, OTUD1 (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370671	NM_001145373.3(OTUD1):c.200T>C (p.Val67Ala)	LOC130003513, OTUD1 (V67A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2287073	NM_001145373.3(OTUD1):c.232T>A (p.Cys78Ser)	LOC130003513, OTUD1 (C78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207352	NM_001145373.3(OTUD1):c.262C>G (p.Pro88Ala)	LOC130003513, OTUD1 (P88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402221	NM_001145373.3(OTUD1):c.304C>G (p.Pro102Ala)	LOC130003513, OTUD1 (P102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207353	NM_001145373.3(OTUD1):c.308C>G (p.Pro103Arg)	LOC130003513, OTUD1 (P103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042708	NM_001145373.3(OTUD1):c.309G>A (p.Pro103=)	LOC130003513, OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GLikely benign
Select item 3043264	NM_001145373.3(OTUD1):c.310C>T (p.Leu104=)	LOC130003513, OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GLikely benign
Select item 2601855	NM_001145373.3(OTUD1):c.334G>A (p.Ala112Thr)	OTUD1 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303680	NM_001145373.3(OTUD1):c.346G>A (p.Val116Met)	OTUD1 (V116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590772	NM_001145373.3(OTUD1):c.366C>G (p.Asp122Glu)	OTUD1 (D122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776500	NM_001145373.3(OTUD1):c.387C>T (p.Pro129=)	OTUD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539697	NM_001145373.3(OTUD1):c.388G>C (p.Asp130His)	OTUD1 (D130H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362270	NM_001145373.3(OTUD1):c.410G>T (p.Gly137Val)	OTUD1 (G137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348972	NM_001145373.3(OTUD1):c.410G>A (p.Gly137Asp)	OTUD1 (G137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607311	NM_001145373.3(OTUD1):c.413C>G (p.Ser138Cys)	OTUD1 (S138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782711	NM_001145373.3(OTUD1):c.444G>C (p.Leu148=)	OTUD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327861	NM_001145373.3(OTUD1):c.455C>T (p.Ala152Val)	OTUD1 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207354	NM_001145373.3(OTUD1):c.457C>G (p.Pro153Ala)	OTUD1 (P153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241381	NM_001145373.3(OTUD1):c.470T>G (p.Val157Gly)	LOC130003514, OTUD1 (V157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366629	NM_001145373.3(OTUD1):c.473C>A (p.Pro158Gln)	LOC130003514, OTUD1 (P158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389306	NM_001145373.3(OTUD1):c.520C>T (p.Pro174Ser)	LOC130003514, OTUD1 (P174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235792	NM_001145373.3(OTUD1):c.521C>T (p.Pro174Leu)	LOC130003514, OTUD1 (P174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303683	NM_001145373.3(OTUD1):c.530C>A (p.Pro177His)	LOC130003514, OTUD1 (P177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047957	NM_001145373.3(OTUD1):c.564G>T (p.Gly188=)	LOC130003514, OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GLikely benign
Select item 2540827	NM_001145373.3(OTUD1):c.572G>A (p.Arg191Gln)	LOC130003514, OTUD1 (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043771	NM_001145373.3(OTUD1):c.604C>T (p.Leu202=)	LOC130003514, OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GLikely benign
Select item 2316553	NM_001145373.3(OTUD1):c.635C>A (p.Ala212Glu)	LOC130003514, OTUD1 (A212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303681	NM_001145373.3(OTUD1):c.683A>G (p.His228Arg)	LOC130003514, OTUD1 (H228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322320	NM_001145373.3(OTUD1):c.689C>G (p.Ala230Gly)	LOC130003514, OTUD1 (A230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475157	NM_001145373.3(OTUD1):c.704G>A (p.Arg235Lys)	LOC130003514, OTUD1 (R235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388540	NM_001145373.3(OTUD1):c.713A>G (p.Glu238Gly)	LOC130003514, OTUD1 (E238G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492073	NM_001145373.3(OTUD1):c.739C>T (p.Pro247Ser)	LOC130003514, OTUD1 (P247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379861	NM_001145373.3(OTUD1):c.743G>T (p.Gly248Val)	LOC130003514, OTUD1 (G248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546245	NM_001145373.3(OTUD1):c.758G>C (p.Arg253Pro)	LOC130003514, OTUD1 (R253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521385	NM_001145373.3(OTUD1):c.766G>C (p.Asp256His)	LOC130003514, OTUD1 (D256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207357	NM_001145373.3(OTUD1):c.780G>C (p.Glu260Asp)	LOC130003514, OTUD1 (E260D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207358	NM_001145373.3(OTUD1):c.785C>T (p.Pro262Leu)	LOC130003514, OTUD1 (P262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042653	NM_001145373.3(OTUD1):c.808G>T (p.Ala270Ser)	LOC130003514, OTUD1 (A270S)	Single nucleotide variant (missense variant)	OTUD1-related disorder	GBenign
Select item 2525539	NM_001145373.3(OTUD1):c.811C>T (p.Pro271Ser)	LOC130003514, OTUD1 (P271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207359	NM_001145373.3(OTUD1):c.819T>G (p.Ser273Arg)	LOC130003514, OTUD1 (S273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393051	NM_001145373.3(OTUD1):c.874C>G (p.Leu292Val)	OTUD1 (L292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776501	NM_001145373.3(OTUD1):c.885C>T (p.Ala295=)	OTUD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3207360	NM_001145373.3(OTUD1):c.908A>G (p.Tyr303Cys)	OTUD1 (Y303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041990	NM_001145373.3(OTUD1):c.976A>T (p.Ser326Cys)	OTUD1 (S326C)	Single nucleotide variant (missense variant)	OTUD1-related disorder	GBenign
Select item 2530517	NM_001145373.3(OTUD1):c.1043C>T (p.Ala348Val)	OTUD1 (A348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775285	NM_001145373.3(OTUD1):c.1122A>T (p.Ala374=)	OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder +1 more	GBenign
Select item 2619544	NM_001145373.3(OTUD1):c.1256G>A (p.Arg419Lys)	OTUD1 (R419K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207347	NM_001145373.3(OTUD1):c.1325A>G (p.Asn442Ser)	OTUD1 (N442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207348	NM_001145373.3(OTUD1):c.1327C>T (p.Pro443Ser)	OTUD1 (P443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472252	NM_001145373.3(OTUD1):c.1327C>G (p.Pro443Ala)	OTUD1 (P443A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207349	NM_001145373.3(OTUD1):c.1341C>G (p.Asn447Lys)	OTUD1 (N447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058311	NM_001145373.3(OTUD1):c.1407C>T (p.Ser469=)	OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GLikely benign
Select item 3207351	NM_001145373.3(OTUD1):c.1441T>C (p.Ser481Pro)	OTUD1 (S481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 74