OIP5[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2535571	NM_007280.2(OIP5):c.658G>T (p.Val220Leu)	OIP5, OIP5-AS1 (V179L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211688	NM_007280.2(OIP5):c.628T>G (p.Leu210Val)	OIP5-AS1, OIP5 (L210V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517064	NM_007280.2(OIP5):c.596T>C (p.Leu199Pro)	OIP5-AS1, OIP5 (L158P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615427	NM_007280.2(OIP5):c.470C>T (p.Ala157Val)	OIP5 (A157V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258499	NM_007280.2(OIP5):c.461C>T (p.Ala154Val)	OIP5 (A154V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607182	NM_007280.2(OIP5):c.455A>C (p.His152Pro)	OIP5 (H152P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372664	NM_007280.2(OIP5):c.353C>G (p.Pro118Arg)	OIP5 (P118R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539272	NM_007280.2(OIP5):c.115T>C (p.Trp39Arg)	LOC130056891, OIP5 (W39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354871	NM_007280.2(OIP5):c.70A>C (p.Thr24Pro)	LOC130056891, OIP5 (T24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337956	NM_007280.2(OIP5):c.38C>T (p.Ala13Val)	LOC130056891, OIP5 (A13V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355888	NM_007280.2(OIP5):c.35G>A (p.Cys12Tyr)	LOC130056891, OIP5 (C12Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361752	NM_007280.2(OIP5):c.32G>A (p.Arg11His)	LOC130056891, OIP5 (R11H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815706	GRCh37/hg19 15q15.1(chr15:41412285-41645212)x3	NUSAP1, OIP5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442816	GRCh37/hg19 15q15.1(chr15:41370581-41688429)x1	CHP1, EXD1 +4 more	Copy number loss	See cases	GLikely benign
Select item 395609	GRCh37/hg19 15q15.1(chr15:41605469-41657779)x1	NUSAP1, OIP5	Copy number loss	See cases	GLikely benign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic

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Items: 23