ClinVar for Gene (Select 3587) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244660	NC_000011.9:g.(?_117857183)_(117866445_?)dup	IL10RA	Duplication	Inflammatory bowel disease 28	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3109053	NM_001558.4(IL10RA):c.656C>T (p.Ser219Phe)	IL10RA (S219F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109052	NM_001558.4(IL10RA):c.500A>T (p.Tyr167Phe)	IL10RA (Y167F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109051	NM_001558.4(IL10RA):c.1569G>T (p.Trp523Cys)	IL10RA (W523C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3032562	NM_001558.4(IL10RA):c.67+8T>G	IL10RA	Single nucleotide variant (intron variant)	IL10RA-related disorder	GLikely benign
Select item 3018812	NM_001558.4(IL10RA):c.1239T>A (p.Ala413=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 3015872	NM_001558.4(IL10RA):c.1669C>T (p.Leu557Phe)	IL10RA (L557F)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 3012092	NM_001558.4(IL10RA):c.1324G>T (p.Ala442Ser)	IL10RA (A442S)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 3011513	NM_001558.4(IL10RA):c.861A>G (p.Pro287=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 3010059	NM_001558.4(IL10RA):c.537+13C>G	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 3001401	NM_001558.4(IL10RA):c.1635T>G (p.Leu545=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 3001160	NM_001558.4(IL10RA):c.1502C>T (p.Pro501Leu)	IL10RA (P501L)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2976515	NM_001558.4(IL10RA):c.456C>T (p.Pro152=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2964567	NM_001558.4(IL10RA):c.537+12C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2959513	NM_001558.4(IL10RA):c.1113G>A (p.Gly371=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2955167	NM_001558.4(IL10RA):c.927G>A (p.Lys309=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2954604	NM_001558.4(IL10RA):c.401T>C (p.Ile134Thr)	IL10RA (I134T)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2920456	NM_001558.4(IL10RA):c.537+18G>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2918388	NM_001558.4(IL10RA):c.368-20C>G	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2917037	NM_001558.4(IL10RA):c.537+20C>G	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2916077	NM_001558.4(IL10RA):c.1446T>G (p.Val482=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2913726	NM_001558.4(IL10RA):c.936C>T (p.Asp312=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2903919	NM_001558.4(IL10RA):c.538-20T>C	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2864056	NM_001558.4(IL10RA):c.1093A>G (p.Ser365Gly)	IL10RA (S365G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2842587	NM_001558.4(IL10RA):c.132C>T (p.His44=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2827855	NM_001558.4(IL10RA):c.689-14C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2820292	NM_001558.4(IL10RA):c.300G>A (p.Val100=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2819375	NM_001558.4(IL10RA):c.582C>G (p.Thr194=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2818596	NM_001558.4(IL10RA):c.555A>G (p.Val185=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2811776	NM_001558.4(IL10RA):c.1671C>A (p.Leu557=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2801936	NM_001558.4(IL10RA):c.464A>G (p.Asp155Gly)	IL10RA (D155G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2792344	NM_001558.4(IL10RA):c.689-8G>A	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2788171	NM_001558.4(IL10RA):c.627C>A (p.Val209=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2787505	NM_001558.4(IL10RA):c.1173G>A (p.Val391=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2787138	NM_001558.4(IL10RA):c.1240G>A (p.Gly414Arg)	IL10RA (G414R)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2783608	NM_001558.4(IL10RA):c.68-6C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2751753	NM_001558.4(IL10RA):c.349C>T (p.Arg117Cys)	IL10RA (R117C)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GPathogenic
Select item 2731746	NM_001558.4(IL10RA):c.1272C>T (p.His424=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2729159	NM_001558.4(IL10RA):c.501T>G (p.Tyr167Ter)	IL10RA (Y167*)	Single nucleotide variant (nonsense +1 more)	Inflammatory bowel disease 28	GPathogenic
Select item 2725457	NM_001558.4(IL10RA):c.1431C>T (p.Phe477=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2717949	NM_001558.4(IL10RA):c.627C>T (p.Val209=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2710733	NM_001558.4(IL10RA):c.810+19_810+24del	IL10RA	Deletion (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2688473	NM_001558.4(IL10RA):c.68-114G>A	IL10RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642409	NM_001558.4(IL10RA):c.67+139C>T	IL10RA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2628233	NM_001558.4(IL10RA):c.67+89G>C	IL10RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2611440	NM_001558.4(IL10RA):c.1322T>C (p.Val441Ala)	IL10RA (V441A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558605	NM_001558.4(IL10RA):c.492C>G (p.Phe164Leu)	IL10RA (F164L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505627	NM_001558.4(IL10RA):c.419T>G (p.Leu140Arg)	IL10RA (L140R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2492435	NM_001558.4(IL10RA):c.310G>A (p.Asp104Asn)	IL10RA (D104N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432840	NM_001558.4(IL10RA):c.799C>G (p.Pro267Ala)	IL10RA (P267A)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	APOA1, APOA4 +17 more	Deletion	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2421394	NM_001558.4(IL10RA):c.1296G>A (p.Val432=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2418557	NM_001558.4(IL10RA):c.703A>G (p.Asn235Asp)	IL10RA (N235D)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2417779	NM_001558.4(IL10RA):c.1685A>T (p.Asn562Ile)	IL10RA (N562I)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2417766	NM_001558.4(IL10RA):c.177G>A (p.Val59=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2416164	NM_001558.4(IL10RA):c.30G>A (p.Ala10=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2413638	NM_001558.4(IL10RA):c.87T>C (p.Pro29=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2339725	NM_001558.4(IL10RA):c.991G>A (p.Glu331Lys)	IL10RA (E331K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314218	NM_001558.4(IL10RA):c.1025C>T (p.Pro342Leu)	IL10RA (P342L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296950	NM_001558.4(IL10RA):c.1620C>A (p.Ser540Arg)	IL10RA (S540R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251539	NM_001558.4(IL10RA):c.1035C>G (p.Asp345Glu)	IL10RA (D345E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199415	NM_001558.4(IL10RA):c.782G>A (p.Arg261Gln)	IL10RA (R261Q)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2196661	NM_001558.4(IL10RA):c.262T>C (p.Leu88=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2194936	NM_001558.4(IL10RA):c.188+18G>A	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2182946	NM_001558.4(IL10RA):c.368-18C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2182429	NM_001558.4(IL10RA):c.13C>T (p.Leu5Phe)	IL10RA (L5F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2168044	NM_001558.4(IL10RA):c.811-11C>G	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2162233	NM_001558.4(IL10RA):c.1734G>A (p.Glu578=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2140109	NM_001558.4(IL10RA):c.1095C>T (p.Ser365=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2137257	NM_001558.4(IL10RA):c.470A>G (p.Tyr157Cys)	IL10RA (Y157C)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GPathogenic
Select item 2129745	NM_001558.4(IL10RA):c.646G>A (p.Gly216Arg)	IL10RA (G216R)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2126917	NM_001558.4(IL10RA):c.188+14A>G	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2126659	NM_001558.4(IL10RA):c.717C>T (p.Phe239=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2115340	NM_001558.4(IL10RA):c.874A>G (p.Thr292Ala)	IL10RA (T292A)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2114176	NM_001558.4(IL10RA):c.687G>C (p.Gln229His)	IL10RA (Q229H)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2105212	NM_001558.4(IL10RA):c.1047A>C (p.Gly349=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2105183	NM_001558.4(IL10RA):c.887T>C (p.Leu296Pro)	IL10RA (L296P)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2091786	NM_001558.4(IL10RA):c.811-15C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2082988	NM_001558.4(IL10RA):c.187A>G (p.Arg63Gly)	IL10RA (R63G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GUncertain significance
Select item 2081884	NM_001558.4(IL10RA):c.81C>G (p.Pro27=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2067210	NM_001558.4(IL10RA):c.44T>C (p.Leu15Pro)	IL10RA (L15P)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2065405	NM_001558.4(IL10RA):c.859C>G (p.Pro287Ala)	IL10RA (P287A)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2064117	NM_001558.4(IL10RA):c.1110C>T (p.Ser370=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2049302	NM_001558.4(IL10RA):c.140C>G (p.Pro47Arg)	IL10RA (P47R)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2048685	NM_001558.4(IL10RA):c.660A>G (p.Lys220=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2047473	NM_001558.4(IL10RA):c.1409C>G (p.Thr470Arg)	IL10RA (T470R)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2046381	NM_001558.4(IL10RA):c.1248A>G (p.Thr416=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2039303	NM_001558.4(IL10RA):c.318C>T (p.Ser106=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2030846	NM_001558.4(IL10RA):c.494G>A (p.Arg165Gln)	IL10RA (R165Q)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2030605	NM_001558.4(IL10RA):c.1338C>T (p.Tyr446=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2022922	NM_001558.4(IL10RA):c.439_452del (p.Arg147fs)	IL10RA (R147fs)	Deletion (frameshift variant +1 more)	Inflammatory bowel disease 28	GPathogenic
Select item 2016207	NM_001558.4(IL10RA):c.1567T>C (p.Trp523Arg)	IL10RA (W523R)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2015652	NM_001558.4(IL10RA):c.367+10C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2014344	NM_001558.4(IL10RA):c.237G>C (p.Leu79=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2011138	NM_001558.4(IL10RA):c.452C>G (p.Ala151Gly)	IL10RA (A151G)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2009183	NM_001558.4(IL10RA):c.189-12G>C	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign

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