"OAS1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2169099	NM_016816.4(OAS1):c.53A>G (p.Asp18Gly)	LOC130008812, OAS1 (D18G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3056096	NM_016816.4(OAS1):c.174G>A (p.Val58=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant +1 more)	OAS1-related disorder	GLikely benign
Select item 1167215	NM_016816.4(OAS1):c.470-7C>T	OAS1	Single nucleotide variant (intron variant)	OAS1-related disorder +1 more	GBenign
Select item 2634020	NM_016816.4(OAS1):c.470-3C>G	OAS1	Single nucleotide variant (intron variant)	OAS1-related disorder	GUncertain significance
Select item 13985	NM_016816.4(OAS1):c.484G>A (p.Gly162Ser)	OAS1 (G162S)	Single nucleotide variant (missense variant)	OAS1-related disorder +2 more	GBenign
Select item 2457959	NM_016816.4(OAS1):c.625A>G (p.Ile209Val)	OAS1 (H193R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1165529	NM_016816.4(OAS1):c.884+10C>T	OAS1	Single nucleotide variant (intron variant)	OAS1-related disorder +1 more	GBenign/Likely benign
Select item 1165530	NM_016816.4(OAS1):c.903G>A (p.Pro301=)	OAS1	Single nucleotide variant (synonymous variant)	OAS1-related disorder +1 more	GBenign/Likely benign
Select item 1583346	NM_016816.4(OAS1):c.920A>T (p.Asn307Ile)	OAS1 (N307I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3046846	NM_016816.4(OAS1):c.1038+64T>C	OAS1	Single nucleotide variant (3 prime UTR variant +2 more)	OAS1-related disorder	GLikely benign
Select item 1156518	NM_016816.4(OAS1):c.1039-1G>A	OAS1	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +2 more	GBenign/Likely benign
Select item 1167216	NM_016816.4(OAS1):c.1054G>A (p.Ala352Thr)	OAS1 (A352T)	Single nucleotide variant (missense variant +1 more)	OAS1-related disorder +2 more	GBenign
Select item 1165531	NM_016816.4(OAS1):c.1061A>G (p.Asp354Gly)	OAS1 (D354G)	Single nucleotide variant (missense variant +1 more)	OAS1-related disorder +1 more	GBenign/Likely benign
Select item 1168534	NM_016816.4(OAS1):c.1082G>C (p.Arg361Thr)	OAS1 (R361T)	Single nucleotide variant (missense variant +1 more)	OAS1-related disorder +2 more	GBenign
Select item 2633265	NM_016816.4(OAS1):c.1193C>T (p.Thr398Ile)	OAS1 (T240I +2 more)	Single nucleotide variant (synonymous variant +4 more)	OAS1-related disorder	GUncertain significance
Select item 3039452	NM_016816.4(OAS1):c.*51C>T	OAS1 (L228F +2 more)	Single nucleotide variant (missense variant +3 more)	OAS1-related disorder	GLikely benign
Select item 1246789	NM_016816.4(OAS1):c.*84G>A	OAS1 (G397R)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 2636588	NM_001320151.2(OAS1):c.1040T>C (p.Val347Ala)	OAS1 (V339A +1 more)	Single nucleotide variant (missense variant +1 more)	OAS1-related disorder	GUncertain significance
Select item 3058877	NM_001320151.2(OAS1):c.1072del (p.Thr358fs)	OAS1 (T350fs +1 more)	Deletion (frameshift variant +1 more)	OAS1-related disorder	GBenign