Related gene-specific medical variations for Gene (Select 4939) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203641	NM_002535.3(OAS2):c.1858G>A (p.Val620Met)	LOC126861641, OAS2 (V620M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203640	NM_002535.3(OAS2):c.1696A>G (p.Lys566Glu)	LOC126861641, OAS2 (K566E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613324	NM_002535.3(OAS2):c.142C>T (p.Pro48Ser)	LOC130008815, OAS2 (P48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460566	NM_002535.3(OAS2):c.1727C>T (p.Ala576Val)	LOC126861641, OAS2 (A576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355332	NM_002535.3(OAS2):c.37G>A (p.Ala13Thr)	LOC130008815, OAS2 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317781	NM_002535.3(OAS2):c.1712T>C (p.Leu571Pro)	LOC126861641, OAS2 (L571P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267946	NM_002535.3(OAS2):c.1827G>C (p.Trp609Cys)	LOC126861641, OAS2 (W609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266299	NM_002535.3(OAS2):c.112G>A (p.Val38Met)	LOC130008815, OAS2 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265367	NM_002535.3(OAS2):c.1801C>G (p.Gln601Glu)	LOC126861641, OAS2 (Q601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243165	NM_002535.3(OAS2):c.167G>A (p.Gly56Glu)	LOC130008815, OAS2 (G56E)	Single nucleotide variant (missense variant)	not specified	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 722500	NM_002535.3(OAS2):c.150G>A (p.Gln50=)	LOC130008815, OAS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563890	GRCh37/hg19 12q24.13(chr12:113429467-113479957)x1	OAS2	Copy number loss	not provided	GLikely benign