5964[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 1164980	NC_000011.10:g.117986053G>T	IL10RA	Single nucleotide variant	Inflammatory bowel disease 28	GBenign
Select item 1047917	NC_000011.10:g.117986319_117986651del	LOC130006833, IL10RA	Deletion	Inflammatory bowel disease 28	GLikely pathogenic
Select item 302528	NM_001558.4(IL10RA):c.-70C>T	IL10RA, LOC130006833	Single nucleotide variant (5 prime UTR variant +1 more)	Inflammatory bowel disease 28 +1 more	GLikely benign
Select item 880462	NM_001558.4(IL10RA):c.-65C>T	IL10RA, LOC130006833	Single nucleotide variant (non-coding transcript variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 302529	NM_001558.4(IL10RA):c.-54T>C	IL10RA, LOC130006833	Single nucleotide variant (non-coding transcript variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 880463	NM_001558.4(IL10RA):c.-29C>T	IL10RA, LOC130006833	Single nucleotide variant (non-coding transcript variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1048075	NM_001558.4(IL10RA):c.1_67+1del	IL10RA, LOC130006833	Deletion (splice donor variant +1 more)	Inflammatory bowel disease 28	GPathogenic
Select item 947503	NM_001558.4(IL10RA):c.8C>G (p.Pro3Arg)	IL10RA (P3R)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 737843	NM_001558.4(IL10RA):c.8C>A (p.Pro3Gln)	IL10RA (P3Q)	Single nucleotide variant (missense variant +1 more)	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 658749	NM_001558.4(IL10RA):c.16G>C (p.Val6Leu)	IL10RA (V6L)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1413529	NM_001558.4(IL10RA):c.17T>C (p.Val6Ala)	IL10RA (V6A)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 846267	NM_001558.4(IL10RA):c.20T>A (p.Val7Glu)	IL10RA (V7E)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1099847	NM_001558.4(IL10RA):c.21G>A (p.Val7=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 281990	NM_001558.4(IL10RA):c.21G>C (p.Val7=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28 +2 more	GBenign/Likely benign
Select item 302530	NM_001558.4(IL10RA):c.25C>T (p.Leu9=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
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 1036326	NM_001558.4(IL10RA):c.37C>T (p.Leu13Phe)	IL10RA (L13F)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
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 1646202	NM_001558.4(IL10RA):c.45C>T (p.Leu15=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 834691	NM_001558.4(IL10RA):c.46C>T (p.Arg16Cys)	IL10RA (R16C)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 850656	NM_001558.4(IL10RA):c.47G>C (p.Arg16Pro)	IL10RA (R16P)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GUncertain significance
Select item 1367567	NM_001558.4(IL10RA):c.65A>C (p.His22Pro)	IL10RA (H22P)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1046747	NM_001558.4(IL10RA):c.67+6G>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	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 470622	NM_001558.4(IL10RA):c.67+8T>C	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 289653	NM_001558.4(IL10RA):c.67+10C>T	IL10RA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877699	NM_001558.4(IL10RA):c.67+11G>C	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GConflicting classifications of pathogenicity
Select item 302531	NM_001558.4(IL10RA):c.67+11G>A	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GConflicting classifications of pathogenicity
Select item 302532	NM_001558.4(IL10RA):c.67+13G>A	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GConflicting classifications of pathogenicity
Select item 302533	NM_001558.4(IL10RA):c.67+15C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GConflicting classifications of pathogenicity
Select item 1546984	NM_001558.4(IL10RA):c.67+17C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 1670798	NM_001558.4(IL10RA):c.67+20C>T	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2628233	NM_001558.4(IL10RA):c.67+89G>C	IL10RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2642409	NM_001558.4(IL10RA):c.67+139C>T	IL10RA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688473	NM_001558.4(IL10RA):c.68-114G>A	IL10RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1602420	NM_001558.4(IL10RA):c.68-16A>G	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GBenign
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 1471309	NM_001558.4(IL10RA):c.68-1G>A	IL10RA	Single nucleotide variant (splice acceptor variant)	Inflammatory bowel disease 28	GLikely pathogenic
Select item 1924116	NM_001558.4(IL10RA):c.71C>A (p.Thr24Lys)	IL10RA (T24K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 302534	NM_001558.4(IL10RA):c.72A>C (p.Thr24=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 538059	NM_001558.4(IL10RA):c.75G>T (p.Glu25Asp)	IL10RA (E25D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 302535	NM_001558.4(IL10RA):c.80C>T (p.Pro27Leu)	IL10RA (P27L)	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 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 878727	NM_001558.4(IL10RA):c.89C>T (p.Pro30Leu)	IL10RA (P30L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 470626	NM_001558.4(IL10RA):c.90G>A (p.Pro30=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1106472	NM_001558.4(IL10RA):c.93T>C (p.Ser31=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 302536	NM_001558.4(IL10RA):c.96G>A (p.Val32=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 835454	NM_001558.4(IL10RA):c.114T>A (p.Phe38Leu)	IL10RA (F38L)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1568728	NM_001558.4(IL10RA):c.120C>T (p.His40=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 1569744	NM_001558.4(IL10RA):c.126C>T (p.Ile42=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
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 470620	NM_001558.4(IL10RA):c.136A>G (p.Thr46Ala)	IL10RA (T46A)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GBenign/Likely benign
Select item 1159248	NM_001558.4(IL10RA):c.138A>G (p.Thr46=)	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 302537	NM_001558.4(IL10RA):c.144C>T (p.Ile48=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GBenign/Likely benign
Select item 1974610	NM_001558.4(IL10RA):c.150T>G (p.Asn50Lys)	IL10RA (N50K)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1927543	NM_001558.4(IL10RA):c.155C>G (p.Ser52Cys)	IL10RA (S52C)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1485640	NM_001558.4(IL10RA):c.158A>C (p.Glu53Ala)	IL10RA (E53A)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 645586	NM_001558.4(IL10RA):c.161G>C (p.Ser54Thr)	IL10RA (S54T)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 284995	NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys)	IL10RA (Y57C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733184	NM_001558.4(IL10RA):c.172G>A (p.Glu58Lys)	IL10RA (E58K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 302538	NM_001558.4(IL10RA):c.180G>A (p.Ala60=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 302539	NM_001558.4(IL10RA):c.181C>G (p.Leu61Val)	IL10RA (L61V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1401583	NM_001558.4(IL10RA):c.184C>A (p.Leu62Met)	IL10RA (L62M)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 2082988	NM_001558.4(IL10RA):c.187A>G (p.Arg63Gly)	IL10RA (R63G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 302540	NM_001558.4(IL10RA):c.188+3G>A	IL10RA	Single nucleotide variant (intron variant)	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 2194936	NM_001558.4(IL10RA):c.188+18G>A	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 2009183	NM_001558.4(IL10RA):c.189-12G>C	IL10RA	Single nucleotide variant (intron variant)	Inflammatory bowel disease 28	GLikely benign
Select item 1137155	NM_001558.4(IL10RA):c.219C>T (p.Ser73=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	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 14815	NM_001558.4(IL10RA):c.251C>T (p.Thr84Ile)	IL10RA (T84I)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GPathogenic
Select item 538061	NM_001558.4(IL10RA):c.252C>T (p.Thr84=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 1054632	NM_001558.4(IL10RA):c.253G>A (p.Ala85Thr)	IL10RA (A85T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1978943	NM_001558.4(IL10RA):c.258_279dup (p.Asn94fs)	IL10RA (N94fs)	Duplication (frameshift variant +1 more)	Inflammatory bowel disease 28	GPathogenic
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 1003277	NM_001558.4(IL10RA):c.274C>T (p.His92Tyr)	IL10RA (H92Y)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1079907	NM_001558.4(IL10RA):c.282T>C (p.Asn94=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GLikely benign
Select item 2002834	NM_001558.4(IL10RA):c.284G>T (p.Gly95Val)	IL10RA (G95V)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 842969	NM_001558.4(IL10RA):c.289C>T (p.Arg97Trp)	IL10RA (R97W)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 1403179	NM_001558.4(IL10RA):c.290G>A (p.Arg97Gln)	IL10RA (R97Q)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance
Select item 302541	NM_001558.4(IL10RA):c.295A>T (p.Arg99Ter)	IL10RA (R99*)	Single nucleotide variant (nonsense +1 more)	Inflammatory bowel disease 28	GUncertain significance
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 1126309	NM_001558.4(IL10RA):c.301C>A (p.Arg101=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 39432	NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp)	IL10RA (R101W)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GPathogenic/Likely pathogenic
Select item 499406	NM_001558.4(IL10RA):c.302G>A (p.Arg101Gln)	IL10RA (R101Q)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28 +1 more	GConflicting classifications of pathogenicity
Select item 1996400	NM_001558.4(IL10RA):c.307G>C (p.Val103Leu)	IL10RA (V103L)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease 28	GUncertain significance

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