IL10RA — 484 ClinVar variants
All ClinVar germline IL10RA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →
15 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 33 Conflicting · 7 Benign · 23 Benign/Likely benign · 178 Likely benign · 220 Uncertain significance
Full IL10RA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 195
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
IL10RA p.Arg262Cys
Pathogenic
Single submitter
inflammatory bowel disease 28
Predictors agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IL10RA p.Ala511Thr
Conflicting
Single submitter
Inborn genetic diseases
-
IL10RA p.Arg107Gln
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg261Trp
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg412Gln
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asp358Asn
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gly248Arg
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro295Leu
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro30Leu
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro353Ser
Conflicting
Single submitter
IL10RA-related disorder
-
IL10RA p.Pro428Leu
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser467Leu
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser532Gly
Conflicting
Single submitter
Inborn genetic diseases
-
IL10RA p.Tyr57Cys
Conflicting
Single submitter
IL10RA-related disorder
-
IL10RA p.Val233Gly
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Val355Glu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 162
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 162
-
IL10RA p.Ala153Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Ala440Ser
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Ala440Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Ala85Thr
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Arg16Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Arg172Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Arg262His
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Arg263Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Arg284His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Arg412Trp
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Arg63Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Arg97Trp
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Asp544Val
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Cys373Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Cys550Tyr
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Gln334His
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Gln389Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Glu299Val
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Gly105Ser
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Gly392Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Gly472Ser
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.His341Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.His424Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Leu192Phe
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Lys325Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Pro27Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Pro295Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Pro340Leu
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Pro501Leu
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Ser382Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Ser572Cys
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Thr179Met
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Thr24Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Thr513Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Val236Ile
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Val441Met
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Val6Leu
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Ala151Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ala151Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ala210Thr
Uncertain significance
Single submitter
inflammatory bowel disease 28
- IL10RA p.Ala241Pro Uncertain significance Single submitter
-
IL10RA p.Ala251Thr
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ala421Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ala442Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ala457Thr
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ala542Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg107Trp
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg165Gln
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg16Cys
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg172His
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg212Gln
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg261Gln
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg284Cys
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg97Gln
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asn136Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asn177Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asn235Asp
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asn394Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asn50Lys
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asn562Ile
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asn70Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Asp104Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Asp155Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asp291Glu
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asp345Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Asp437Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asp533Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gln229His
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gln389Leu
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gln390Leu
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gln407Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gln417Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Glu331Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Glu53Ala
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gly315Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gly414Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gly418Asp
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gly478Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gly486Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Gly95Val
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.His22Pro
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.His92Tyr
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ile134Thr
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ile139Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ile238Val
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu13Phe
Uncertain significance
Single submitter
inflammatory bowel disease 28
- IL10RA p.Leu140Arg Uncertain significance Single submitter
-
IL10RA p.Leu246Phe
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu296Pro
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu308Met
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu311Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Leu557Phe
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu565Met
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu5Phe
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu62Met
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Lys142Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Lys149Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Lys173Glu
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Lys273Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Phe180Val
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Phe272Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Pro152Leu
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro275Leu
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro277Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Pro285His
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Pro287Ala
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro29Ala
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro342Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Pro381Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro3Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro47Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro490Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Pro490Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Pro512Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
- IL10RA p.Pro547Leu Uncertain significance Single submitter
-
IL10RA p.Ser213Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser219Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ser268Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser282Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser364Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser365Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser367Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ser380Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser395Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser409Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ser467Pro
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser509Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ser530Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser540Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ser540Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ser540Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Ser54Thr
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser573Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser577Cys
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser71Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Thr124Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Thr194Ser
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr227Pro
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr232Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Thr234Ala
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr292Ala
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr347Met
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr368Ile
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr416Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr416Ile
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr460Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Thr470Ala
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr470Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Thr470Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Thr513Ala
Uncertain significance
Single submitter
inflammatory bowel disease 28
Predictors split 17
The independent predictors disagree with each other — read with care.
-
IL10RA p.Gly371Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Leu245Pro
Uncertain significance
Multiple submitters
inflammatory bowel disease 28
-
IL10RA p.Pro175Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IL10RA p.Ala249Asp
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Arg101Gln
Conflicting
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asp121Gly
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Asp121Val
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Gly216Arg
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ile224Phe
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Leu15Pro
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Phe164Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IL10RA p.Phe38Leu
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Pro175Thr
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser211Phe
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser370Cys
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Ser52Cys
Uncertain significance
Single submitter
inflammatory bowel disease 28
-
IL10RA p.Tyr446Asn
Uncertain significance
Single submitter
inflammatory bowel disease 28
All IL10RA variants
Pathogenic 15
- p.Arg117Cys Multiple submitters inflammatory bowel disease 28
- p.Arg212Ter Multiple submitters inflammatory bowel disease 28
- p.Arg147fs Single submitter inflammatory bowel disease 28
- p.Arg262Cys Single submitter inflammatory bowel disease 28 ⚠
- p.Asn94fs Single submitter inflammatory bowel disease 28
- p.Gln257Ter Single submitter inflammatory bowel disease 28
- p.Ile169Thr Single submitter inflammatory bowel disease 28
- p.Met1Ile Single submitter inflammatory bowel disease 28
- p.Pro207fs Single submitter inflammatory bowel disease 28
- p.Trp33Ter Single submitter inflammatory bowel disease 28
- p.Tyr157Cys Single submitter inflammatory bowel disease 28
- p.Tyr167Ter Single submitter inflammatory bowel disease 28
- p.Tyr252Ter Single submitter inflammatory bowel disease 28
- p.Gly141Arg No assertion criteria inflammatory bowel disease 28
- p.Thr84Ile No assertion criteria inflammatory bowel disease 28
Pathogenic/Likely pathogenic 3
- p.Arg101Trp Multiple submitters IL10RA-related disorder
- p.Arg165Ter Multiple submitters inflammatory bowel disease 28
- p.Thr179= Multiple submitters inflammatory bowel disease 28
Likely pathogenic 5
- c.68-1G>A Multiple submitters IL10RA-related disorder
- c.67+1G>A Single submitter inflammatory bowel disease 28
- c.688+2T>C Single submitter IL10RA-related disorder
- p.Arg263Ter Single submitter inflammatory bowel disease 28
- p.Leu43fs Single submitter inflammatory bowel disease 28
Conflicting classifications of pathogenicity 33
- c.67+10C>T Single submitter inflammatory bowel disease 28
- c.67+11G>A Single submitter inflammatory bowel disease 28
- c.67+11G>C Single submitter inflammatory bowel disease 28
- c.67+13G>A Single submitter inflammatory bowel disease 28
- c.67+15C>T Single submitter inflammatory bowel disease 28
- c.67+8T>C Single submitter inflammatory bowel disease 28
- p.Ala511Thr Single submitter Inborn genetic diseases ⚠
- p.Arg101= Single submitter inflammatory bowel disease 28
- p.Arg101Gln Single submitter inflammatory bowel disease 28 ⚠
- p.Arg107Gln Single submitter inflammatory bowel disease 28 ⚠
- p.Arg261Trp Single submitter inflammatory bowel disease 28 ⚠
- p.Arg412Gln Single submitter inflammatory bowel disease 28 ⚠
- p.Asp358Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Glu484= Single submitter inflammatory bowel disease 28
- p.Gly248Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Leu311= Single submitter inflammatory bowel disease 28
- p.Lys149= Single submitter inflammatory bowel disease 28
- p.Pro295Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Pro30Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Pro353Ser Single submitter IL10RA-related disorder ⚠
- p.Pro427= Single submitter inflammatory bowel disease 28
- p.Pro428Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Ser420= Single submitter inflammatory bowel disease 28
- p.Ser467= Single submitter inflammatory bowel disease 28
- p.Ser467Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Ser532Gly Single submitter Inborn genetic diseases ⚠
- p.Thr24= Single submitter inflammatory bowel disease 28
- p.Thr513= Single submitter Inborn genetic diseases
- p.Tyr57Cys Single submitter IL10RA-related disorder ⚠
- p.Val233Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Val32= Single submitter inflammatory bowel disease 28
- p.Val355Glu Single submitter Inborn genetic diseases ⚠
- p.Val441= Single submitter inflammatory bowel disease 28
Benign 7
- c.*1348G>C Multiple submitters inflammatory bowel disease 28
- c.*1730G>A Multiple submitters inflammatory bowel disease 28
- c.*354T>C Multiple submitters inflammatory bowel disease 28
- c.67+89G>C Single submitter
- c.68-114G>A Single submitter
- c.*1412T>C Single submitter inflammatory bowel disease 28
- c.*968G>A Single submitter inflammatory bowel disease 28
Benign/Likely benign 23
- c.368-18C>A Multiple submitters inflammatory bowel disease 28
- c.368-18C>G Multiple submitters inflammatory bowel disease 28
- c.68-16A>G Multiple submitters inflammatory bowel disease 28
- c.810+10G>A Multiple submitters inflammatory bowel disease 28
- p.Ala153= Multiple submitters inflammatory bowel disease 28
- p.Ala546= Multiple submitters inflammatory bowel disease 28
- p.Ala60= Multiple submitters inflammatory bowel disease 28
- p.Arg396= Multiple submitters inflammatory bowel disease 28
- p.Asp104= Multiple submitters inflammatory bowel disease 28
- p.Glu25Asp Multiple submitters inflammatory bowel disease 28
- p.Glu454Lys Multiple submitters inflammatory bowel disease 28
- p.Ile224Val Multiple submitters inflammatory bowel disease 28
- p.Ile48= Multiple submitters inflammatory bowel disease 28
- p.Leu61Val Multiple submitters inflammatory bowel disease 28
- p.Phe239Ser Multiple submitters inflammatory bowel disease 28
- p.Pro175= Multiple submitters inflammatory bowel disease 28
- p.Ser159Gly Multiple submitters inflammatory bowel disease 28
- p.Ser420Leu Multiple submitters inflammatory bowel disease 28
- p.Thr232= Multiple submitters inflammatory bowel disease 28
- p.Thr347= Multiple submitters inflammatory bowel disease 28
- p.Thr46Ala Multiple submitters inflammatory bowel disease 28
- p.Val113Ile Multiple submitters inflammatory bowel disease 28
- p.Val233Met Multiple submitters inflammatory bowel disease 28
Likely benign 178
- c.188+18G>A Multiple submitters inflammatory bowel disease 28
- c.368-18C>T Multiple submitters inflammatory bowel disease 28
- c.368-20C>A Multiple submitters inflammatory bowel disease 28
- c.368-20C>G Multiple submitters inflammatory bowel disease 28
- c.811-9C>T Multiple submitters inflammatory bowel disease 28
- p.Asn94= Multiple submitters inflammatory bowel disease 28
- p.Asp399= Multiple submitters inflammatory bowel disease 28
- p.Glu578= Multiple submitters inflammatory bowel disease 28
- p.Glu58Lys Multiple submitters inflammatory bowel disease 28
- p.Leu140= Multiple submitters inflammatory bowel disease 28
- p.Leu254= Multiple submitters inflammatory bowel disease 28
- p.Leu313= Multiple submitters inflammatory bowel disease 28
- p.Leu574= Multiple submitters inflammatory bowel disease 28
- p.Pro295= Multiple submitters inflammatory bowel disease 28
- p.Pro30= Multiple submitters inflammatory bowel disease 28
- p.Pro333= Multiple submitters inflammatory bowel disease 28
- p.Pro342= Multiple submitters inflammatory bowel disease 28
- p.Pro3Gln Multiple submitters inflammatory bowel disease 28
- p.Ser106= Multiple submitters inflammatory bowel disease 28
- p.Ser211= Multiple submitters inflammatory bowel disease 28
- p.Ser247= Multiple submitters inflammatory bowel disease 28
- p.Thr324= Multiple submitters inflammatory bowel disease 28
- c.188+11G>A Single submitter inflammatory bowel disease 28
- c.188+12G>A Single submitter
- c.188+14A>G Single submitter inflammatory bowel disease 28
- c.189-11T>G Single submitter inflammatory bowel disease 28
- c.189-12G>C Single submitter inflammatory bowel disease 28
- c.367+10C>T Single submitter inflammatory bowel disease 28
- c.367+10del Single submitter inflammatory bowel disease 28
- c.367+11T>A Single submitter
- c.367+12C>G Single submitter inflammatory bowel disease 28
- c.367+12C>T Single submitter inflammatory bowel disease 28
- c.367+20T>G Single submitter inflammatory bowel disease 28
- c.368-16C>A Single submitter inflammatory bowel disease 28
- c.368-20C>T Single submitter inflammatory bowel disease 28
- c.537+12C>T Single submitter inflammatory bowel disease 28
- c.537+13C>G Single submitter inflammatory bowel disease 28
- c.537+16A>G Single submitter inflammatory bowel disease 28
- c.537+17G>T Single submitter inflammatory bowel disease 28
- c.537+18G>T Single submitter inflammatory bowel disease 28
- c.537+20C>G Single submitter inflammatory bowel disease 28
- c.537+7_537+10dup Single submitter inflammatory bowel disease 28
- c.537+9T>C Single submitter inflammatory bowel disease 28
- c.538-10T>G Single submitter inflammatory bowel disease 28
- c.538-11T>A Single submitter inflammatory bowel disease 28
- c.538-14C>A Single submitter inflammatory bowel disease 28
- c.538-20T>C Single submitter inflammatory bowel disease 28
- c.538-9T>C Single submitter inflammatory bowel disease 28
- c.67+139C>T Single submitter
- c.67+17C>G Single submitter inflammatory bowel disease 28
- c.67+17C>T Single submitter inflammatory bowel disease 28
- c.67+20C>A Single submitter
- c.67+20C>T Single submitter inflammatory bowel disease 28
- c.68-6C>T Single submitter inflammatory bowel disease 28
- c.688+17G>A Single submitter inflammatory bowel disease 28
- c.689-14C>T Single submitter inflammatory bowel disease 28
- c.689-18A>T Single submitter inflammatory bowel disease 28
- c.689-8G>A Single submitter inflammatory bowel disease 28
- c.689-8G>T Single submitter inflammatory bowel disease 28
- c.810+11C>T Single submitter inflammatory bowel disease 28
- c.810+17G>A Single submitter inflammatory bowel disease 28
- c.810+19_810+24del Single submitter inflammatory bowel disease 28
- c.811-11C>G Single submitter inflammatory bowel disease 28
- c.811-13C>T Single submitter inflammatory bowel disease 28
- c.811-15C>T Single submitter inflammatory bowel disease 28
- c.*133C>T Single submitter inflammatory bowel disease 28
- c.*1352G>A Single submitter inflammatory bowel disease 28
- c.*3C>T Single submitter
- c.*756T>C Single submitter inflammatory bowel disease 28
- c.*984C>A Single submitter inflammatory bowel disease 28
- p.Ala10= Single submitter inflammatory bowel disease 28
- p.Ala21= Single submitter inflammatory bowel disease 28
- p.Ala241= Single submitter inflammatory bowel disease 28
- p.Ala413= Single submitter inflammatory bowel disease 28
- p.Ala421= Single submitter inflammatory bowel disease 28
- p.Ala442= Single submitter inflammatory bowel disease 28
- p.Arg107= Single submitter inflammatory bowel disease 28
- p.Arg165= Single submitter inflammatory bowel disease 28
- p.Arg228= Single submitter inflammatory bowel disease 28
- p.Arg263= Single submitter inflammatory bowel disease 28
- p.Arg346= Single submitter inflammatory bowel disease 28
- p.Arg351Gly Single submitter inflammatory bowel disease 28
- p.Asn235= Single submitter inflammatory bowel disease 28
- p.Asn350= Single submitter
- p.Asn394= Single submitter inflammatory bowel disease 28
- p.Asn517= Single submitter inflammatory bowel disease 28
- p.Asp155= Single submitter inflammatory bowel disease 28
- p.Asp312= Single submitter inflammatory bowel disease 28
- p.Asp318= Single submitter inflammatory bowel disease 28
- p.Asp400= Single submitter
- p.Asp89= Single submitter inflammatory bowel disease 28
- p.Cys202= Single submitter inflammatory bowel disease 28
- p.Gln283= Single submitter inflammatory bowel disease 28
- p.Gln398= Single submitter inflammatory bowel disease 28
- p.Glu158= Single submitter inflammatory bowel disease 28
- p.Glu464= Single submitter inflammatory bowel disease 28
- p.Gly141= Single submitter inflammatory bowel disease 28
- p.Gly349= Single submitter inflammatory bowel disease 28
- p.Gly371= Single submitter inflammatory bowel disease 28
- p.Gly402= Single submitter inflammatory bowel disease 28
- p.Gly472= Single submitter inflammatory bowel disease 28
- p.Gly472Asp Single submitter inflammatory bowel disease 28
- p.Gly486= Single submitter inflammatory bowel disease 28
- p.His314= Single submitter inflammatory bowel disease 28
- p.His40= Single submitter inflammatory bowel disease 28
- p.His424= Single submitter inflammatory bowel disease 28
- p.His44= Single submitter inflammatory bowel disease 28
- p.Ile42= Single submitter inflammatory bowel disease 28
- p.Ile72= Single submitter inflammatory bowel disease 28
- p.Leu132= Single submitter inflammatory bowel disease 28
- p.Leu15= Single submitter inflammatory bowel disease 28
- p.Leu226= Single submitter inflammatory bowel disease 28
- p.Leu250= Single submitter inflammatory bowel disease 28
- p.Leu266= Single submitter inflammatory bowel disease 28
- p.Leu271= Single submitter inflammatory bowel disease 28
- p.Leu348= Single submitter inflammatory bowel disease 28
- p.Leu356= Single submitter inflammatory bowel disease 28
- p.Leu447= Single submitter inflammatory bowel disease 28
- p.Leu473= Single submitter inflammatory bowel disease 28
- p.Leu481= Single submitter inflammatory bowel disease 28
- p.Leu502= Single submitter
- p.Leu506= Single submitter inflammatory bowel disease 28
- p.Leu545= Single submitter inflammatory bowel disease 28
- p.Leu557= Single submitter inflammatory bowel disease 28
- p.Leu565= Single submitter inflammatory bowel disease 28
- p.Leu568= Single submitter inflammatory bowel disease 28
- p.Leu570= Single submitter inflammatory bowel disease 28
- p.Leu79= Single submitter inflammatory bowel disease 28
- p.Leu88= Single submitter inflammatory bowel disease 28
- p.Lys220= Single submitter inflammatory bowel disease 28
- p.Lys264= Single submitter inflammatory bowel disease 28
- p.Lys309= Single submitter inflammatory bowel disease 28
- p.Lys459= Single submitter inflammatory bowel disease 28
- p.Lys494= Single submitter inflammatory bowel disease 28
- p.Phe180= Single submitter
- p.Phe239= Single submitter inflammatory bowel disease 28
- p.Phe477= Single submitter inflammatory bowel disease 28
- p.Pro152= Single submitter inflammatory bowel disease 28
- p.Pro27= Single submitter inflammatory bowel disease 28
- p.Pro287= Single submitter inflammatory bowel disease 28
- p.Pro29= Single submitter inflammatory bowel disease 28
- p.Pro428= Single submitter inflammatory bowel disease 28
- p.Pro433= Single submitter inflammatory bowel disease 28
- p.Pro468= Single submitter inflammatory bowel disease 28
- p.Ser159= Single submitter inflammatory bowel disease 28
- p.Ser268= Single submitter inflammatory bowel disease 28
- p.Ser31= Single submitter inflammatory bowel disease 28
- p.Ser365= Single submitter inflammatory bowel disease 28
- p.Ser370= Single submitter inflammatory bowel disease 28
- p.Ser380= Single submitter inflammatory bowel disease 28
- p.Ser401= Single submitter inflammatory bowel disease 28
- p.Ser540= Single submitter inflammatory bowel disease 28
- p.Ser563= Single submitter inflammatory bowel disease 28
- p.Ser572= Single submitter inflammatory bowel disease 28
- p.Ser73= Single submitter inflammatory bowel disease 28
- p.Thr112= Single submitter inflammatory bowel disease 28
- p.Thr126= Single submitter inflammatory bowel disease 28
- p.Thr194= Single submitter inflammatory bowel disease 28
- p.Thr234= Single submitter inflammatory bowel disease 28
- p.Thr383= Single submitter inflammatory bowel disease 28
- p.Thr386= Single submitter inflammatory bowel disease 28
- p.Thr416= Single submitter inflammatory bowel disease 28
- p.Thr450= Single submitter inflammatory bowel disease 28
- p.Thr46= Single submitter inflammatory bowel disease 28
- p.Thr567= Single submitter inflammatory bowel disease 28
- p.Thr84= Single submitter inflammatory bowel disease 28
- p.Tyr446= Single submitter inflammatory bowel disease 28
- p.Val100= Single submitter inflammatory bowel disease 28
- p.Val123= Single submitter inflammatory bowel disease 28
- p.Val185= Single submitter inflammatory bowel disease 28
- p.Val198= Single submitter inflammatory bowel disease 28
- p.Val209= Single submitter inflammatory bowel disease 28
- p.Val391= Single submitter inflammatory bowel disease 28
- p.Val432= Single submitter inflammatory bowel disease 28
- p.Val482= Single submitter inflammatory bowel disease 28
- p.Val59= Single submitter inflammatory bowel disease 28
- p.Val7= Single submitter inflammatory bowel disease 28
- c.67+8T>G No assertion criteria IL10RA-related disorder
Uncertain significance 220
- c.188+3G>A Multiple submitters inflammatory bowel disease 28
- p.Ala153Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala440Ser Multiple submitters inflammatory bowel disease 28 ⚠
- p.Ala440Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala85Thr Multiple submitters inflammatory bowel disease 28 ⚠
- p.Arg16Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg172Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg262His Multiple submitters inflammatory bowel disease 28 ⚠
- p.Arg263Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg284His Multiple submitters Inborn genetic diseases ⚠
- p.Arg412Trp Multiple submitters inflammatory bowel disease 28 ⚠
- p.Arg63Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg97Trp Multiple submitters inflammatory bowel disease 28 ⚠
- p.Asp544Val Multiple submitters inflammatory bowel disease 28 ⚠
- p.Cys373Phe Multiple submitters Inborn genetic diseases ⚠
- p.Cys550Tyr Multiple submitters inflammatory bowel disease 28 ⚠
- p.Gln334His Multiple submitters inflammatory bowel disease 28 ⚠
- p.Gln389Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu299Val Multiple submitters inflammatory bowel disease 28 ⚠
- p.Gly105Ser Multiple submitters inflammatory bowel disease 28 ⚠
- p.Gly363_Ser365del Multiple submitters inflammatory bowel disease 28
- p.Gly371Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly392Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly472Ser Multiple submitters inflammatory bowel disease 28 ⚠
- p.His341Gln Multiple submitters Inborn genetic diseases ⚠
- p.His424Asn Multiple submitters Inborn genetic diseases ⚠
- p.Leu192Phe Multiple submitters inflammatory bowel disease 28 ⚠
- p.Leu245Pro Multiple submitters inflammatory bowel disease 28 ⚠
- p.Lys325Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro175Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro267Ala Multiple submitters inflammatory bowel disease 28
- p.Pro27Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro295Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro340Leu Multiple submitters inflammatory bowel disease 28 ⚠
- p.Pro501Leu Multiple submitters inflammatory bowel disease 28 ⚠
- p.Ser382Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser572Cys Multiple submitters inflammatory bowel disease 28 ⚠
- p.Thr179Met Multiple submitters inflammatory bowel disease 28 ⚠
- p.Thr24Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr513Met Multiple submitters Inborn genetic diseases ⚠
- p.Val236Ile Multiple submitters inflammatory bowel disease 28 ⚠
- p.Val441Met Multiple submitters inflammatory bowel disease 28 ⚠
- p.Val6Leu Multiple submitters inflammatory bowel disease 28 ⚠
- c.367+4C>T Single submitter inflammatory bowel disease 28
- c.538-14C>T Single submitter
- c.67+6G>T Single submitter inflammatory bowel disease 28
- c.810+6T>A Single submitter inflammatory bowel disease 28
- c.-29C>T Single submitter inflammatory bowel disease 28
- c.-65C>T Single submitter inflammatory bowel disease 28
- c.*104C>G Single submitter inflammatory bowel disease 28
- c.*1058A>G Single submitter inflammatory bowel disease 28
- c.*1147C>T Single submitter inflammatory bowel disease 28
- c.*1375C>A Single submitter inflammatory bowel disease 28
- c.*1555C>T Single submitter inflammatory bowel disease 28
- c.*1664A>G Single submitter inflammatory bowel disease 28
- c.*1684G>A Single submitter inflammatory bowel disease 28
- c.*1722T>C Single submitter inflammatory bowel disease 28
- c.*203G>T Single submitter inflammatory bowel disease 28
- c.*328G>C Single submitter inflammatory bowel disease 28
- c.*405G>A Single submitter inflammatory bowel disease 28
- c.*421A>C Single submitter inflammatory bowel disease 28
- c.*543G>A Single submitter inflammatory bowel disease 28
- c.*576G>C Single submitter inflammatory bowel disease 28
- c.*639C>T Single submitter inflammatory bowel disease 28
- c.*676C>T Single submitter inflammatory bowel disease 28
- c.*846T>A Single submitter inflammatory bowel disease 28
- c.*854C>G Single submitter inflammatory bowel disease 28
- c.*863C>T Single submitter inflammatory bowel disease 28
- c.*866C>A Single submitter inflammatory bowel disease 28
- c.*872G>A Single submitter inflammatory bowel disease 28
- c.*9G>A Single submitter inflammatory bowel disease 28
- p.Ala151Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Ala151Val Single submitter Inborn genetic diseases ⚠
- p.Ala210Thr Single submitter inflammatory bowel disease 28 ⚠
- p.Ala241Pro Single submitter ⚠
- p.Ala249Asp Single submitter inflammatory bowel disease 28 ⚠
- p.Ala251Thr Single submitter inflammatory bowel disease 28 ⚠
- p.Ala421Val Single submitter Inborn genetic diseases ⚠
- p.Ala442Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Ala457Thr Single submitter inflammatory bowel disease 28 ⚠
- p.Ala542Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Arg107Trp Single submitter inflammatory bowel disease 28 ⚠
- p.Arg165Gln Single submitter inflammatory bowel disease 28 ⚠
- p.Arg16Cys Single submitter inflammatory bowel disease 28 ⚠
- p.Arg172His Single submitter inflammatory bowel disease 28 ⚠
- p.Arg212Gln Single submitter inflammatory bowel disease 28 ⚠
- p.Arg261Gln Single submitter inflammatory bowel disease 28 ⚠
- p.Arg284Cys Single submitter inflammatory bowel disease 28 ⚠
- p.Arg97Gln Single submitter inflammatory bowel disease 28 ⚠
- p.Asn136Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Asn177Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Asn235Asp Single submitter inflammatory bowel disease 28 ⚠
- p.Asn394_Ala413delinsThr Single submitter inflammatory bowel disease 28
- p.Asn394Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Asn50Lys Single submitter inflammatory bowel disease 28 ⚠
- p.Asn562Ile Single submitter inflammatory bowel disease 28 ⚠
- p.Asn70Thr Single submitter Inborn genetic diseases ⚠
- p.Asp104Asn Single submitter Inborn genetic diseases ⚠
- p.Asp121Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Asp121Val Single submitter inflammatory bowel disease 28 ⚠
- p.Asp155Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Asp291Glu Single submitter inflammatory bowel disease 28 ⚠
- p.Asp345Glu Single submitter Inborn genetic diseases ⚠
- p.Asp437Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Asp533Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Gln229His Single submitter inflammatory bowel disease 28 ⚠
- p.Gln389Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Gln390Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Gln407Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Gln417Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Gln499Ter Single submitter inflammatory bowel disease 28
- p.Glu158Gly Single submitter inflammatory bowel disease 28
- p.Glu331Lys Single submitter Inborn genetic diseases ⚠
- p.Glu53Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Gly216Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Gly315Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Gly414Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Gly418Asp Single submitter inflammatory bowel disease 28 ⚠
- p.Gly478Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Gly486Ser Single submitter Inborn genetic diseases ⚠
- p.Gly95Val Single submitter inflammatory bowel disease 28 ⚠
- p.His187_Leu193dup Single submitter inflammatory bowel disease 28
- p.His22Pro Single submitter inflammatory bowel disease 28 ⚠
- p.His92Tyr Single submitter inflammatory bowel disease 28 ⚠
- p.Ile134Thr Single submitter inflammatory bowel disease 28 ⚠
- p.Ile139Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Ile224Phe Single submitter inflammatory bowel disease 28 ⚠
- p.Ile238Val Single submitter inflammatory bowel disease 28 ⚠
- p.Leu13Phe Single submitter inflammatory bowel disease 28 ⚠
- p.Leu140Arg Single submitter ⚠
- p.Leu15Pro Single submitter inflammatory bowel disease 28 ⚠
- p.Leu246Phe Single submitter inflammatory bowel disease 28 ⚠
- p.Leu296Pro Single submitter inflammatory bowel disease 28 ⚠
- p.Leu308Met Single submitter inflammatory bowel disease 28 ⚠
- p.Leu311Val Single submitter Inborn genetic diseases ⚠
- p.Leu557Phe Single submitter inflammatory bowel disease 28 ⚠
- p.Leu565Met Single submitter inflammatory bowel disease 28 ⚠
- p.Leu5Phe Single submitter inflammatory bowel disease 28 ⚠
- p.Leu62Met Single submitter inflammatory bowel disease 28 ⚠
- p.Leu9= Single submitter inflammatory bowel disease 28
- p.Lys142Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Lys149Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Lys173Glu Single submitter inflammatory bowel disease 28 ⚠
- p.Lys273Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Phe164Leu Single submitter Inborn genetic diseases ⚠
- p.Phe180Val Single submitter inflammatory bowel disease 28 ⚠
- p.Phe272Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe38Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Pro152Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Pro175Thr Single submitter inflammatory bowel disease 28 ⚠
- p.Pro275Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Pro277Leu Single submitter Inborn genetic diseases ⚠
- p.Pro285His Single submitter Inborn genetic diseases ⚠
- p.Pro287Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Pro29Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Pro342Leu Single submitter Inborn genetic diseases ⚠
- p.Pro381Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Pro3Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Pro47Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Pro490Ala Single submitter Inborn genetic diseases ⚠
- p.Pro490Leu Single submitter Inborn genetic diseases ⚠
- p.Pro512Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Pro547Leu Single submitter ⚠
- p.Pro569= Single submitter inflammatory bowel disease 28
- p.Pro569Leu Single submitter Inborn genetic diseases
- p.Ser211Phe Single submitter inflammatory bowel disease 28 ⚠
- p.Ser213Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Ser219Phe Single submitter Inborn genetic diseases ⚠
- p.Ser268Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Ser282Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Ser364Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Ser365Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Ser367Asn Single submitter Inborn genetic diseases ⚠
- p.Ser370Cys Single submitter inflammatory bowel disease 28 ⚠
- p.Ser380Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Ser395Gly Single submitter inflammatory bowel disease 28 ⚠
- p.Ser409Phe Single submitter Inborn genetic diseases ⚠
- p.Ser467Pro Single submitter inflammatory bowel disease 28 ⚠
- p.Ser509Pro Single submitter Inborn genetic diseases ⚠
- p.Ser52Cys Single submitter inflammatory bowel disease 28 ⚠
- p.Ser530Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Ser540Arg Single submitter Inborn genetic diseases ⚠
- p.Ser540Gly Single submitter Inborn genetic diseases ⚠
- p.Ser540Ile Single submitter Inborn genetic diseases ⚠
- p.Ser54Thr Single submitter inflammatory bowel disease 28 ⚠
- p.Ser573Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Ser577Cys Single submitter inflammatory bowel disease 28 ⚠
- p.Ser71Phe Single submitter Inborn genetic diseases ⚠
- p.Thr124Ile Single submitter Inborn genetic diseases ⚠
- p.Thr194Ser Single submitter inflammatory bowel disease 28 ⚠
- p.Thr227Pro Single submitter inflammatory bowel disease 28 ⚠
- p.Thr232Ile Single submitter Inborn genetic diseases ⚠
- p.Thr234Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Thr292Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Thr347Met Single submitter inflammatory bowel disease 28 ⚠
- p.Thr368Ile Single submitter inflammatory bowel disease 28 ⚠
- p.Thr416Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Thr416Ile Single submitter inflammatory bowel disease 28 ⚠
- p.Thr460Lys Single submitter Inborn genetic diseases ⚠
- p.Thr470Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Thr470Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Thr470Ile Single submitter Inborn genetic diseases ⚠
- p.Thr513Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Thr567Pro Single submitter inflammatory bowel disease 28 ⚠
- p.Trp523Arg Single submitter inflammatory bowel disease 28 ⚠
- p.Trp523Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr167Phe Single submitter Inborn genetic diseases
- p.Tyr230His Single submitter inflammatory bowel disease 28
- p.Tyr446Asn Single submitter inflammatory bowel disease 28 ⚠
- p.Val103Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Val185Ala Single submitter Inborn genetic diseases ⚠
- p.Val198Met Single submitter inflammatory bowel disease 28 ⚠
- p.Val233Leu Single submitter inflammatory bowel disease 28 ⚠
- p.Val304= Single submitter inflammatory bowel disease 28
- p.Val304Met Single submitter inflammatory bowel disease 28 ⚠
- p.Val32Met Single submitter Inborn genetic diseases ⚠
- p.Val441Ala Single submitter Inborn genetic diseases ⚠
- p.Val59Met Single submitter Inborn genetic diseases ⚠
- p.Val6Ala Single submitter inflammatory bowel disease 28 ⚠
- p.Val7Glu Single submitter inflammatory bowel disease 28