OAS3[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2384784	NM_006187.4(OAS3):c.79G>A (p.Glu27Lys)	OAS3 (E27K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218865	NM_006187.4(OAS3):c.92G>A (p.Arg31His)	OAS3 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300269	NM_006187.4(OAS3):c.121A>T (p.Arg41Trp)	OAS3 (R41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203646	NM_006187.4(OAS3):c.124G>A (p.Glu42Lys)	OAS3 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209081	NM_006187.4(OAS3):c.128G>C (p.Arg43Pro)	OAS3 (R43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786934	NM_006187.4(OAS3):c.145G>A (p.Ala49Thr)	OAS3 (A49T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2518628	NM_006187.4(OAS3):c.157C>T (p.Arg53Trp)	LOC130008814, OAS3 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203648	NM_006187.4(OAS3):c.158G>A (p.Arg53Gln)	LOC130008814, OAS3 (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491473	NM_006187.4(OAS3):c.178G>A (p.Gly60Arg)	OAS3 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481890	NM_006187.4(OAS3):c.281G>A (p.Arg94His)	OAS3 (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336587	NM_006187.4(OAS3):c.364G>A (p.Glu122Lys)	OAS3 (E122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203667	NM_006187.4(OAS3):c.393C>G (p.Phe131Leu)	OAS3 (F131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494547	NM_006187.4(OAS3):c.506C>T (p.Thr169Ile)	OAS3 (T169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379735	NM_006187.4(OAS3):c.535G>A (p.Glu179Lys)	OAS3 (E179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213700	NM_006187.4(OAS3):c.583C>T (p.Arg195Cys)	OAS3 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546504	NM_006187.4(OAS3):c.629A>G (p.Tyr210Cys)	OAS3 (Y210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377551	NM_006187.4(OAS3):c.689A>G (p.Glu230Gly)	OAS3 (E230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529666	NM_006187.4(OAS3):c.718G>A (p.Gly240Ser)	OAS3 (G240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203669	NM_006187.4(OAS3):c.826G>A (p.Glu276Lys)	OAS3 (E276K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232070	NM_006187.4(OAS3):c.844C>A (p.Gln282Lys)	OAS3 (Q282K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267524	NM_006187.4(OAS3):c.845A>G (p.Gln282Arg)	OAS3 (Q282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203670	NM_006187.4(OAS3):c.887T>C (p.Leu296Pro)	OAS3 (L296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203671	NM_006187.4(OAS3):c.907T>G (p.Trp303Gly)	OAS3 (W303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203672	NM_006187.4(OAS3):c.961G>A (p.Ala321Thr)	OAS3 (A321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203645	NM_006187.4(OAS3):c.1054G>A (p.Gly352Ser)	OAS3 (G352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551864	NM_006187.4(OAS3):c.1085A>G (p.Asn362Ser)	OAS3 (N362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382510	NM_006187.4(OAS3):c.1118A>G (p.Asn373Ser)	OAS3 (N373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515022	NM_006187.4(OAS3):c.1129C>A (p.Pro377Thr)	OAS3 (P377T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1228717	NM_006187.4(OAS3):c.1143C>G (p.Ser381Arg)	OAS3 (S381R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2274137	NM_006187.4(OAS3):c.1166C>T (p.Pro389Leu)	OAS3 (P389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259888	NM_006187.4(OAS3):c.1246C>A (p.Leu416Met)	LOC132090015, OAS3 (L416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372822	NM_006187.4(OAS3):c.1253G>A (p.Arg418His)	LOC132090015, OAS3 (R418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203647	NM_006187.4(OAS3):c.1326G>C (p.Leu442Phe)	LOC132090015, OAS3 (L442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615099	NM_006187.4(OAS3):c.1375G>T (p.Gly459Trp)	OAS3 (G459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282579	NM_006187.4(OAS3):c.1382C>T (p.Ser461Leu)	OAS3 (S461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691389	NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp)	OAS3 (R464W)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 2593442	NM_006187.4(OAS3):c.1451C>T (p.Thr484Met)	OAS3 (T484M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773684	NM_006187.4(OAS3):c.1475G>A (p.Arg492His)	OAS3 (R492H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2510209	NM_006187.4(OAS3):c.1642G>T (p.Ala548Ser)	OAS3 (A548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510210	NM_006187.4(OAS3):c.1643C>T (p.Ala548Val)	OAS3 (A548V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262640	NM_006187.4(OAS3):c.1760G>A (p.Arg587Gln)	OAS3 (R587Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203649	NM_006187.4(OAS3):c.1773G>T (p.Met591Ile)	OAS3 (M591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203650	NM_006187.4(OAS3):c.1781G>A (p.Arg594His)	OAS3 (R594H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203651	NM_006187.4(OAS3):c.1829G>A (p.Arg610His)	OAS3 (R610H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203653	NM_006187.4(OAS3):c.1838C>T (p.Ala613Val)	OAS3 (A613V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203654	NM_006187.4(OAS3):c.1861C>A (p.Pro621Thr)	OAS3 (P621T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203655	NM_006187.4(OAS3):c.1907C>G (p.Thr636Ser)	OAS3 (T636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203656	NM_006187.4(OAS3):c.1966C>T (p.Arg656Trp)	OAS3 (R656W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334342	NM_006187.4(OAS3):c.1967G>A (p.Arg656Gln)	OAS3 (R656Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203657	NM_006187.4(OAS3):c.1976T>C (p.Leu659Pro)	OAS3 (L659P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203658	NM_006187.4(OAS3):c.2045C>G (p.Ala682Gly)	OAS3 (A682G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203806	NM_006187.4(OAS3):c.2065G>A (p.Gly689Ser)	OAS3 (G689S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469457	NM_006187.4(OAS3):c.2165C>G (p.Ala722Gly)	OAS3 (A722G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778990	NM_006187.4(OAS3):c.2179G>T (p.Ala727Ser)	OAS3 (A727S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228931	NM_006187.4(OAS3):c.2194A>G (p.Arg732Gly)	OAS3 (R732G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529802	NM_006187.4(OAS3):c.2260G>A (p.Asp754Asn)	OAS3 (D754N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473568	NM_006187.4(OAS3):c.2375C>A (p.Ser792Tyr)	OAS3 (S792Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241356	NM_006187.4(OAS3):c.2440C>T (p.Arg814Cys)	OAS3 (R814C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361138	NM_006187.4(OAS3):c.2483A>T (p.Gln828Leu)	OAS3 (Q828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379284	NM_006187.4(OAS3):c.2608G>A (p.Val870Met)	OAS3 (V819M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275667	NM_006187.4(OAS3):c.2635A>G (p.Thr879Ala)	OAS3 (T828A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203660	NM_006187.4(OAS3):c.2636C>T (p.Thr879Met)	OAS3 (T828M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347420	NM_006187.4(OAS3):c.2641C>G (p.Leu881Val)	OAS3 (L830V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509499	NM_006187.4(OAS3):c.2682C>A (p.Asp894Glu)	OAS3 (D843E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318213	NM_006187.4(OAS3):c.2774C>T (p.Thr925Ile)	OAS3 (T874I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203661	NM_006187.4(OAS3):c.2786A>G (p.Glu929Gly)	OAS3 (E929G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356122	NM_006187.4(OAS3):c.2839C>T (p.Arg947Trp)	OAS3 (R896W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328301	NM_006187.4(OAS3):c.2884G>A (p.Gly962Arg)	OAS3 (G962R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203662	NM_006187.4(OAS3):c.2929G>A (p.Val977Met)	OAS3 (V926M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203663	NM_006187.4(OAS3):c.3016C>T (p.Arg1006Cys)	OAS3 (R1006C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203664	NM_006187.4(OAS3):c.3017G>A (p.Arg1006His)	OAS3 (R955H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491759	NM_006187.4(OAS3):c.3052G>A (p.Ala1018Thr)	OAS3 (A967T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391865	NM_006187.4(OAS3):c.3091C>A (p.Leu1031Ile)	OAS3 (L1031I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345969	NM_006187.4(OAS3):c.3131C>T (p.Pro1044Leu)	OAS3 (P1044L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203666	NM_006187.4(OAS3):c.3218G>A (p.Arg1073Gln)	OAS3 (R1022Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263097	NM_006187.4(OAS3):c.3226A>G (p.Ile1076Val)	OAS3 (I1025V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483457	NM_006187.4(OAS3):c.3241T>C (p.Trp1081Arg)	OAS3 (W1030R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214316	NM_006187.4(OAS3):c.3256G>C (p.Ala1086Pro)	OAS3 (A1035P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708192	GRCh37/hg19 12q24.13(chr12:112998335-113510817)x3	OAS2, OAS3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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: 84