4938[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 1241792	NC_000012.12:g.112906823G>A	LOC130008812, OAS1	Single nucleotide variant	not provided	GBenign
Select item 1911349	NM_016816.4(OAS1):c.1A>G (p.Met1Val)	LOC130008812, OAS1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1721166	NM_016816.4(OAS1):c.5T>C (p.Met2Thr)	LOC130008812, OAS1 (M2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942217	NM_016816.4(OAS1):c.8A>G (p.Asp3Gly)	LOC130008812, OAS1 (D3G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700405	NM_016816.4(OAS1):c.12C>G (p.Leu4=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901964	NM_016816.4(OAS1):c.18T>C (p.Asn6=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1489301	NM_016816.4(OAS1):c.22C>G (p.Pro8Ala)	LOC130008812, OAS1 (P8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647654	NM_016816.4(OAS1):c.27C>T (p.Ala9=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817440	NM_016816.4(OAS1):c.32C>A (p.Ser11Tyr)	LOC130008812, OAS1 (S11Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996649	NM_016816.4(OAS1):c.39del (p.Asp13fs)	LOC130008812, OAS1 (D13fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1348204	NM_016816.4(OAS1):c.39_40insCCA (p.Asp13_Lys14insPro)	LOC130008812, OAS1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2169099	NM_016816.4(OAS1):c.53A>G (p.Asp18Gly)	LOC130008812, OAS1 (D18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085658	NM_016816.4(OAS1):c.58C>T (p.Leu20Phe)	LOC130008812, OAS1 (L20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000113	NM_016816.4(OAS1):c.60C>G (p.Leu20=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906561	NM_016816.4(OAS1):c.63G>A (p.Leu21=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1439604	NM_016816.4(OAS1):c.65C>T (p.Pro22Leu)	LOC130008812, OAS1 (P22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1626456	NM_016816.4(OAS1):c.78C>T (p.Phe26=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184057	NM_016816.4(OAS1):c.79C>T (p.Arg27Cys)	LOC130008812, OAS1 (R27C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970365	NM_016816.4(OAS1):c.80G>A (p.Arg27His)	LOC130008812, OAS1 (R27H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936638	NM_016816.4(OAS1):c.80G>T (p.Arg27Leu)	LOC130008812, OAS1 (R27L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699530	NM_016816.4(OAS1):c.86A>G (p.Gln29Arg)	LOC130008812, OAS1 (Q29R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 744639	NM_016816.4(OAS1):c.96T>C (p.His32=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604977	NM_016816.4(OAS1):c.102T>C (p.Ile34=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1405939	NM_016816.4(OAS1):c.116G>T (p.Gly39Val)	LOC130008812, OAS1 (G39V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1909570	NM_016816.4(OAS1):c.134G>A (p.Cys45Tyr)	LOC130008812, OAS1 (C45Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1112169	NM_016816.4(OAS1):c.139C>T (p.Arg47Ter)	LOC130008812, OAS1 (R47*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1354139	NM_016816.4(OAS1):c.140G>A (p.Arg47Gln)	LOC130008812, OAS1 (R47Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1916504	NM_016816.4(OAS1):c.146G>T (p.Ser49Ile)	LOC130008812, OAS1 (S49I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792554	NM_016816.4(OAS1):c.153C>T (p.Tyr51=)	LOC130008812, OAS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1392033	NM_016816.4(OAS1):c.163G>A (p.Val55Met)	LOC130008812, OAS1 (V55M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1294910	NM_016816.4(OAS1):c.180+66A>G	OAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269600	NM_016816.4(OAS1):c.180+143A>C	OAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267284	NM_016816.4(OAS1):c.181-214C>A	OAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602971	NM_016816.4(OAS1):c.181-12C>T	OAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2062087	NM_016816.4(OAS1):c.181-11G>T	OAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645198	NM_016816.4(OAS1):c.181-11G>A	OAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030110	NM_016816.4(OAS1):c.181-10T>A	OAS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2806394	NM_016816.4(OAS1):c.186C>T (p.Gly62=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1430523	NM_016816.4(OAS1):c.187T>C (p.Ser63Pro)	OAS1 (S63P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440211	NM_016816.4(OAS1):c.188C>T (p.Ser63Phe)	OAS1 (S63F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953323	NM_016816.4(OAS1):c.195C>T (p.Gly65=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2047587	NM_016816.4(OAS1):c.199G>A (p.Gly67Ser)	OAS1 (G67S)	Single nucleotide variant (missense variant)	not provided	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 2954960	NM_016816.4(OAS1):c.207C>A (p.Thr69=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1596849	NM_016816.4(OAS1):c.210C>A (p.Leu70=)	OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545001	NM_016816.4(OAS1):c.210C>G (p.Leu70=)	OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1109457	NM_016816.4(OAS1):c.214G>A (p.Gly72Ser)	OAS1 (G72S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1502149	NM_016816.4(OAS1):c.217C>T (p.Arg73Ter)	OAS1 (R73*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1491397	NM_016816.4(OAS1):c.218G>A (p.Arg73Gln)	OAS1 (R73Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647671	NM_016816.4(OAS1):c.219A>G (p.Arg73=)	OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598327	NM_016816.4(OAS1):c.224A>C (p.Asp75Ala)	OAS1 (D75A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1567584	NM_016816.4(OAS1):c.225C>T (p.Asp75=)	OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390236	NM_016816.4(OAS1):c.226G>A (p.Ala76Thr)	OAS1 (A76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548127	NM_016816.4(OAS1):c.227C>T (p.Ala76Val)	OAS1 (A76V)	Single nucleotide variant (missense variant)	Pulmonary alveolar proteinosis with hypogammaglobulinemia	GConflicting classifications of pathogenicity
Select item 2092977	NM_016816.4(OAS1):c.231C>A (p.Asp77Glu)	OAS1 (D77E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017208	NM_016816.4(OAS1):c.234G>A (p.Leu78=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1521008	NM_016816.4(OAS1):c.259A>G (p.Thr87Ala)	OAS1 (T87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101316	NM_016816.4(OAS1):c.264T>A (p.Phe88Leu)	OAS1 (F88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712610	NM_016816.4(OAS1):c.271C>G (p.Gln91Glu)	OAS1 (Q91E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2866242	NM_016816.4(OAS1):c.280C>T (p.Arg94Cys)	OAS1 (R94C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1898836	NM_016816.4(OAS1):c.284G>A (p.Arg95Gln)	OAS1 (R95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825794	NM_016816.4(OAS1):c.287G>C (p.Gly96Ala)	OAS1 (G96A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2692582	NM_016816.4(OAS1):c.287G>A (p.Gly96Glu)	OAS1 (G96E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2080367	NM_016816.4(OAS1):c.295A>G (p.Ile99Val)	OAS1 (I99V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091255	NM_016816.4(OAS1):c.305T>C (p.Ile102Thr)	OAS1 (I102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660312	NM_016816.4(OAS1):c.306T>C (p.Ile102=)	OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651625	NM_016816.4(OAS1):c.310A>G (p.Arg104Gly)	OAS1 (R104G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2905716	NM_016816.4(OAS1):c.311G>A (p.Arg104Lys)	OAS1 (R104K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1124167	NM_016816.4(OAS1):c.315G>C (p.Gln105His)	OAS1 (Q105H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 548128	NM_016816.4(OAS1):c.326G>A (p.Cys109Tyr)	OAS1 (C109Y)	Single nucleotide variant (missense variant)	Pulmonary alveolar proteinosis with hypogammaglobulinemia	GUncertain significance
Select item 1435149	NM_016816.4(OAS1):c.337_340del (p.Arg113fs)	OAS1 (R113fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2960217	NM_016816.4(OAS1):c.333A>G (p.Arg111=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1691614	NM_016816.4(OAS1):c.334G>A (p.Glu112Lys)	OAS1 (E112K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438144	NM_016816.4(OAS1):c.340G>A (p.Ala114Thr)	OAS1 (A114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869968	NM_016816.4(OAS1):c.347C>T (p.Ser116Phe)	OAS1 (S116F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2162365	NM_016816.4(OAS1):c.348C>A (p.Ser116=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1559098	NM_016816.4(OAS1):c.348C>T (p.Ser116=)	OAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1657708	NM_016816.4(OAS1):c.349G>A (p.Val117Met)	OAS1 (V117M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2902193	NM_016816.4(OAS1):c.356T>A (p.Phe119Tyr)	OAS1 (F119Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2805076	NM_016816.4(OAS1):c.356T>C (p.Phe119Ser)	OAS1 (F119S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1686989	NM_016816.4(OAS1):c.362T>G (p.Val121Gly)	OAS1 (V121G)	Single nucleotide variant (missense variant)	Pulmonary alveolar proteinosis with hypogammaglobulinemia	GPathogenic
Select item 1968706	NM_016816.4(OAS1):c.373C>T (p.Arg125Cys)	OAS1 (R125C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909878	NM_016816.4(OAS1):c.374G>A (p.Arg125His)	OAS1 (R125H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2821180	NM_016816.4(OAS1):c.374G>T (p.Arg125Leu)	OAS1 (R125L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2987059	NM_016816.4(OAS1):c.386C>A (p.Pro129His)	OAS1 (P129H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1651626	NM_016816.4(OAS1):c.386C>G (p.Pro129Arg)	OAS1 (P129R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1388000	NM_016816.4(OAS1):c.388C>T (p.Arg130Cys)	OAS1 (R130C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385361	NM_016816.4(OAS1):c.389G>A (p.Arg130His)	OAS1 (R130H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069835	NM_016816.4(OAS1):c.392C>T (p.Ala131Val)	OAS1 (A131V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956662	NM_016816.4(OAS1):c.393G>A (p.Ala131=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1167558	NM_016816.4(OAS1):c.393G>C (p.Ala131=)	OAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2902844	NM_016816.4(OAS1):c.402C>T (p.Phe134=)	OAS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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