"Ambry Genetics"[submitter] AND "OAS1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301791	NM_016816.4(OAS1):c.70A>C (p.Thr24Pro)	LOC130008812, OAS1 (T24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301793	NM_016816.4(OAS1):c.113G>A (p.Cys38Tyr)	LOC130008812, OAS1 (C38Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1428970	NM_016816.4(OAS1):c.121C>G (p.Leu41Val)	LOC130008812, OAS1 (L41V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2532564	NM_016816.4(OAS1):c.143G>A (p.Gly48Asp)	LOC130008812, OAS1 (G48D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1435550	NM_016816.4(OAS1):c.206C>T (p.Thr69Ile)	OAS1 (T69I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2267072	NM_016816.4(OAS1):c.213A>T (p.Arg71Ser)	OAS1 (R71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545140	NM_016816.4(OAS1):c.401T>C (p.Phe134Ser)	OAS1 (F134S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1421589	NM_016816.4(OAS1):c.403G>A (p.Val135Ile)	OAS1 (V135I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1036262	NM_016816.4(OAS1):c.415C>T (p.Leu139Phe)	OAS1 (L139F)	Single nucleotide variant (missense variant)	Pulmonary alveolar proteinosis with hypogammaglobulinemia +2 more	GUncertain significance
Select item 1387956	NM_016816.4(OAS1):c.443A>G (p.Asp148Gly)	OAS1 (D148G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1651627	NM_016816.4(OAS1):c.535G>T (p.Asp179Tyr)	OAS1 (D179Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1519571	NM_016816.4(OAS1):c.602G>A (p.Arg201His)	OAS1 (R201H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2547765	NM_016816.4(OAS1):c.629G>T (p.Arg210Leu)	OAS1 (R210L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1421936	NM_016816.4(OAS1):c.770C>T (p.Thr257Met)	OAS1 (T257M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2084097	NM_016816.4(OAS1):c.806G>A (p.Cys269Tyr)	OAS1 (C261Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1371432	NM_016816.4(OAS1):c.875C>T (p.Thr292Met)	OAS1 (T292M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1431517	NM_016816.4(OAS1):c.902C>T (p.Pro301Leu)	OAS1 (P301L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2409082	NM_016816.4(OAS1):c.907G>C (p.Asp303His)	OAS1 (D295H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074307	NM_016816.4(OAS1):c.913A>G (p.Thr305Ala)	OAS1 (T147A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3301792	NM_016816.4(OAS1):c.919A>G (p.Asn307Asp)	OAS1 (N149D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1583346	NM_016816.4(OAS1):c.920A>T (p.Asn307Ile)	OAS1 (N307I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2151207	NM_016816.4(OAS1):c.926G>A (p.Gly309Asp)	OAS1 (G301D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2523620	NM_016816.4(OAS1):c.928G>A (p.Gly310Ser)	OAS1 (G310S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1476930	NM_016816.4(OAS1):c.943G>A (p.Gly315Ser)	OAS1 (G315S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2063716	NM_016816.4(OAS1):c.953A>G (p.Gln318Arg)	OAS1 (Q310R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1437519	NM_016816.4(OAS1):c.1060G>A (p.Asp354Asn)	OAS1 (D354N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1422925	NM_016816.4(OAS1):c.1069G>A (p.Asp357Asn)	OAS1 (D357N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3203635	NM_016816.4(OAS1):c.1164C>T (p.Thr388=)	OAS1 (P348S +2 more)	Single nucleotide variant (missense variant +4 more)	not specified	GLikely benign

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Items: 29