OAS2[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2355332	NM_002535.3(OAS2):c.37G>A (p.Ala13Thr)	LOC130008815, OAS2 (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266299	NM_002535.3(OAS2):c.112G>A (p.Val38Met)	LOC130008815, OAS2 (V38M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613324	NM_002535.3(OAS2):c.142C>T (p.Pro48Ser)	LOC130008815, OAS2 (P48S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722500	NM_002535.3(OAS2):c.150G>A (p.Gln50=)	LOC130008815, OAS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2243165	NM_002535.3(OAS2):c.167G>A (p.Gly56Glu)	LOC130008815, OAS2 (G56E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348092	NM_002535.3(OAS2):c.187T>G (p.Tyr63Asp)	OAS2 (Y63D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623474	NM_002535.3(OAS2):c.268C>G (p.Gln90Glu)	OAS2 (Q90E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623475	NM_002535.3(OAS2):c.291C>G (p.Ile97Met)	OAS2 (I97M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554448	NM_002535.3(OAS2):c.354C>G (p.Phe118Leu)	OAS2 (F118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735783	NM_002535.3(OAS2):c.429G>A (p.Leu143=)	OAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266292	NM_002535.3(OAS2):c.463C>A (p.Pro155Thr)	OAS2 (P155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471038	NM_002535.3(OAS2):c.467G>T (p.Ser156Ile)	OAS2 (S156I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398747	NM_002535.3(OAS2):c.472T>C (p.Trp158Arg)	OAS2 (W158R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345302	NM_002535.3(OAS2):c.665C>T (p.Pro222Leu)	OAS2 (P222L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522083	NM_002535.3(OAS2):c.751G>A (p.Val251Ile)	OAS2 (V251I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2301130	NM_002535.3(OAS2):c.770G>T (p.Cys257Phe)	OAS2 (C257F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479217	NM_002535.3(OAS2):c.809A>T (p.Asn270Ile)	OAS2 (N270I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395663	NM_002535.3(OAS2):c.1025C>T (p.Thr342Met)	OAS2 (T342M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469770	NM_002535.3(OAS2):c.1043T>C (p.Leu348Pro)	OAS2 (L348P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599819	NM_002535.3(OAS2):c.1148G>T (p.Arg383Leu)	OAS2 (R383L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547049	NM_002535.3(OAS2):c.1192G>A (p.Ala398Thr)	OAS2 (A398T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552379	NM_002535.3(OAS2):c.1225G>A (p.Ala409Thr)	OAS2 (A409T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209535	NM_002535.3(OAS2):c.1234G>A (p.Val412Ile)	OAS2 (V412I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362178	NM_002535.3(OAS2):c.1237G>T (p.Val413Leu)	OAS2 (V413L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347841	NM_002535.3(OAS2):c.1244A>G (p.His415Arg)	OAS2 (H415R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306478	NM_002535.3(OAS2):c.1246A>C (p.Asn416His)	OAS2 (N416H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621755	NM_002535.3(OAS2):c.1279G>A (p.Glu427Lys)	OAS2 (E427K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515879	NM_002535.3(OAS2):c.1282C>T (p.Arg428Trp)	OAS2 (R428W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292490	NM_002535.3(OAS2):c.1294G>A (p.Val432Ile)	OAS2 (V432I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2242837	NM_002535.3(OAS2):c.1345G>A (p.Glu449Lys)	OAS2 (E449K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277169	NM_002535.3(OAS2):c.1538C>T (p.Ser513Leu)	OAS2 (S513L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540430	NM_002535.3(OAS2):c.1543C>T (p.Leu515Phe)	OAS2 (L515F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230147	NM_002535.3(OAS2):c.1597C>T (p.Arg533Cys)	OAS2 (R533C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208398	NM_002535.3(OAS2):c.1603C>T (p.Arg535Trp)	OAS2 (R535W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317781	NM_002535.3(OAS2):c.1712T>C (p.Leu571Pro)	LOC126861641, OAS2 (L571P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460566	NM_002535.3(OAS2):c.1727C>T (p.Ala576Val)	LOC126861641, OAS2 (A576V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265367	NM_002535.3(OAS2):c.1801C>G (p.Gln601Glu)	LOC126861641, OAS2 (Q601E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267946	NM_002535.3(OAS2):c.1827G>C (p.Trp609Cys)	LOC126861641, OAS2 (W609C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789525	NM_002535.3(OAS2):c.1857C>T (p.Thr619=)	LOC126861641, OAS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2366504	NM_002535.3(OAS2):c.1948C>T (p.Arg650Cys)	OAS2 (R650C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783673	NM_002535.3(OAS2):c.2016G>T (p.Gly672=)	OAS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1708192	GRCh37/hg19 12q24.13(chr12:112998335-113510817)x3	OAS2, OAS3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 563890	GRCh37/hg19 12q24.13(chr12:113429467-113479957)x1	OAS2	Copy number loss	not provided	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 49