Related gene-specific medical variations for Gene (Select 220213) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3207358	NM_001145373.3(OTUD1):c.785C>T (p.Pro262Leu)	LOC130003514, OTUD1 (P262L)	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 3207353	NM_001145373.3(OTUD1):c.308C>G (p.Pro103Arg)	LOC130003513, OTUD1 (P103R)	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 3207350	NM_001145373.3(OTUD1):c.137C>T (p.Pro46Leu)	LOC130003513, OTUD1 (P46L)	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 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 3043771	NM_001145373.3(OTUD1):c.604C>T (p.Leu202=)	LOC130003514, 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 3042708	NM_001145373.3(OTUD1):c.309G>A (p.Pro103=)	LOC130003513, OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GLikely benign
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 3037482	NM_001145373.3(OTUD1):c.84C>T (p.Ala28=)	LOC130003513, OTUD1	Single nucleotide variant (synonymous variant)	OTUD1-related disorder	GBenign
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 2540827	NM_001145373.3(OTUD1):c.572G>A (p.Arg191Gln)	LOC130003514, OTUD1 (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2521385	NM_001145373.3(OTUD1):c.766G>C (p.Asp256His)	LOC130003514, OTUD1 (D256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2492073	NM_001145373.3(OTUD1):c.739C>T (p.Pro247Ser)	LOC130003514, OTUD1 (P247S)	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 2402221	NM_001145373.3(OTUD1):c.304C>G (p.Pro102Ala)	LOC130003513, OTUD1 (P102A)	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 2388540	NM_001145373.3(OTUD1):c.713A>G (p.Glu238Gly)	LOC130003514, OTUD1 (E238G)	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 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 2366629	NM_001145373.3(OTUD1):c.473C>A (p.Pro158Gln)	LOC130003514, OTUD1 (P158Q)	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 2336072	NM_001145373.3(OTUD1):c.85G>T (p.Ala29Ser)	LOC130003513, OTUD1 (A29S)	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 2316553	NM_001145373.3(OTUD1):c.635C>A (p.Ala212Glu)	LOC130003514, OTUD1 (A212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2242612	NM_001145373.3(OTUD1):c.172G>A (p.Ala58Thr)	LOC130003513, OTUD1 (A58T)	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 2235792	NM_001145373.3(OTUD1):c.521C>T (p.Pro174Leu)	LOC130003514, OTUD1 (P174L)	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

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Items: 35