Sugi Variant

Sugi Variant/COPA

COPA — 963 ClinVar variants

All ClinVar germline COPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 420 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 49 Conflicting · 46 Benign · 9 Benign/Likely benign · 439 Likely benign · 412 Uncertain significance

Full COPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 420

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 agree, ClinVar conflicts 31

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 230

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 230

Predictors split 159

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 159

All COPA variants

Pathogenic 5

  • p.Glu241Lys Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala239Pro Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Lys230Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Trp240Arg Single submitter
  • p.Arg1142Ter No assertion criteria autoimmune interstitial lung disease-arthritis syndrome

Pathogenic/Likely pathogenic 1

  • p.Arg233His Multiple submitters autoimmune interstitial lung disease-arthritis syndrome

Likely pathogenic 2

  • p.Leu581Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Val242Ala Single submitter autoimmune interstitial lung disease-arthritis syndrome

Conflicting classifications of pathogenicity 49

  • p.Ala1138Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala898Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala998Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1083His Single submitter Inborn genetic diseases ⚠
  • p.Arg1126Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1178His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg260Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg431Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg467Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg529His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg745His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg941Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn672Ile Single submitter Inborn genetic diseases ⚠
  • p.Asn791Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp243Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp609Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp789Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln1051Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu241Ala Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu937Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly844Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly897Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His558Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile472Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile625Val Single submitter Inborn genetic diseases ⚠
  • p.Ile801Val Single submitter Inborn genetic diseases ⚠
  • p.Ile835Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile931Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu505Ile Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu521Phe Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys170Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys666Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys793Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys793Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Pro909Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ser1094Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser895Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr216Ala Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Thr839Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Thr917Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr99Met Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Tyr970Phe Single submitter Inborn genetic diseases ⚠
  • p.Val1062Leu Single submitter Inborn genetic diseases ⚠
  • p.Val1066Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val161Ile Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val494Ile Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val540Ile Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val840Ala Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val859Leu Single submitter Inborn genetic diseases ⚠

Benign 46

  • c.1077-14A>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.1443-11A>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.1978-20C>T Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+7A>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.2353-19C>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.2476+11A>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.2476+20A>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.2754+4A>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.2960+13T>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.3616-20C>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.40+17G>C Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.497-20C>T Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn121= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp848= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Leu581= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Ser773= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Thr99= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Tyr335= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.1528+44T>C Single submitter
  • c.228+35A>C Single submitter
  • c.2754+52G>A Single submitter
  • c.2824-16T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.310-77T>C Single submitter
  • c.3615+49A>G Single submitter
  • c.387-17dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.387-8del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.387-97C>T Single submitter
  • c.41-14dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.41-4dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.925+18T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg1174Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn367Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn79= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn984His Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp194= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln261= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.His1093= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.His144= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ile788Val Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Leu1064= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Leu1111= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Met1162Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Met217Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ser179= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Tyr1160= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Val256Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome

Benign/Likely benign 9

  • c.1076+13T>A Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.1077-16C>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.1667+9A>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg160= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Gly133= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Met332Val Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Pro64= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Thr146Ala Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Thr968= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome

Likely benign 439

Showing the top 300 by review status; the full set is in the sitemap.

  • c.155-19T>C Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.2960+19T>G Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala255Thr Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala664= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg1083Leu Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg84His Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn807Thr Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp1161= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp904= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Cys41= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln925= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Phe66= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Ser272= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Ser402Phe Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Tyr963= Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • c.1076+10A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1076+12T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1076+17T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1076+18C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1076+7C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1076+8G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1076+8G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1077-12A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1077-8A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1143+10C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1143+13T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1144-14C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1144-16C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1219+16G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1219+16G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1219+18C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1219+7G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1220-16G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1220-17G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1220-6T>C Single submitter
  • c.1220-8C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1302+10G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1302+12C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1302+13T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1302+18G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1303-12T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1303-15T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1303-6T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1442+8A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1442+8A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1443-16T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1443-17A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1443-4T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1443-5C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1443-7_1443-4del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.154+19del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.154+7T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1667+13T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1667+19A>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1667+7T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1668-17G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1668-19C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1668-20G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1668-5C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1830+15T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1830+16G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1831-17C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1977+10A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1977+12A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1977+18A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1978-17C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1978-19_1978-18insGTTA Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1978-19G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1978-19G>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2167+13A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2168-10C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2168-11A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2168-15T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2168-20G>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2168-4G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+11G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+11G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+12A>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+15C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+9_2263+16del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2264-17G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2264-4A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2264-8C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+10G>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+11_228+12insTA Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+14G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+17A>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+17A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+18T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+8G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.229-10G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.229-12T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.229-13T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2352+17A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2353-11C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2353-14C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2353-20T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2476+18C>T Single submitter
  • c.2477-11dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2477-17G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2477-7T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2566+11T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2566+6A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2567-10T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2567-13A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2567-17T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2567-5T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2676+16A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2676+7G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2677-24_2677-18del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2677-9T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2754+12G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2754+15A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2754+16C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2754+16C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2754+7G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2755-10T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2755-16_2755-13del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2755-25_2755-20del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2823+15C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2823+7A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2823+9C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2824-10T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2961-15C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2961-18C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2961-7T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2961-8C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.309+12T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.309+14G>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.309+18C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.309+9T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.310-11A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+11C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+14G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+16C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+17G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+19del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+20G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+9G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+9G>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3148-9C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3148-9C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3258+10A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3258+11T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3258+12A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3258+7T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3259-11C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3259-14T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3259-8T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+11C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+12T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+14C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+15T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+16T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+9A>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+9A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3421-11C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3421-17C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3421-5C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3421-6C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3615+10_3615+11delinsTC Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3615+15C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3615+9T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3616-12_3616-9del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3616-16G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3616-20C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3616-8T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.386+20G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.387-10T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.387-18C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.387-19T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.387-4G>T Single submitter
  • c.387-8T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.40+10A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.40+11A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.40+17G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.41-11A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.41-11A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.41-13C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.496+14G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.496+4_496+7dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.496+8G>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.497-14T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.497-14T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.497-15_497-13del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.497-18C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.497-8C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.606+12T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.606+17C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.606+7_606+11del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.607-11C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.607-16C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.607-5T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.607-8_607-7del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.706+11C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.706+12G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.706+13G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.706+13G>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.706+18A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.707-11T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.707-15C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.707-15C>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.707-6C>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.707-6C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.842+10T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.842+16G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.842+7T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.843-13G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.843-15G>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.843-4C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.843-5T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.925+7G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.926-15C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.926-17C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.926-23CTC[2] Single submitter
  • c.926-6_926-5insCGA Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.926-6C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.926-7C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala1108= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala111= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala1155= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala1171Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala176= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala195= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala239= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala255= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala298= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala307= Single submitter
  • p.Ala376= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala383= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala407= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala407Pro Single submitter autoinflammation and autoimmunity with immune dysregulation 1
  • p.Ala418= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala469= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala520Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala534Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala638= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala681= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala736= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala736Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala762= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala792= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala799= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala964Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg1009= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg118= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg1224His Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg260= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg274= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg339= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg358= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg358Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg382= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg39= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg39Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg425Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg431= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg572Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg586Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg586His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg648= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg696= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg747= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg747Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Arg747Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn209= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn251= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn304= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn331= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn388= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn439Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn452= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn463Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asn807= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp113= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp1167= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp148= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp180= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp399= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp476= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp58= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp768= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Asp885= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Cys1013= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Cys380Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Cys752= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln63= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln946= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu1027Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu104= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu1136= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu455= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu691= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu744= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu772= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu772Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu847= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu860= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu863Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly1132= Single submitter autoimmune interstitial lung disease-arthritis syndrome

Uncertain significance 412

Showing the top 300 by review status; the full set is in the sitemap.

  • c.2960+6G>T Multiple submitters autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala111Thr Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala176Val Multiple submitters systemic lupus erythematosus, susceptibility to, 1 ⚠
  • p.Ala407Val Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala422Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala758Gly Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1009Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1127His Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1142Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg260His Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg339Gln Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg358Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg481Trp Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg648His Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg648Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg717Cys Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg745Cys Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg941Trp Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg985Cys Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg985His Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn1043Ser Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn347Ser Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp37Ala Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp805Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys1013Ser Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Cys514Tyr Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Cys585Tyr Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu654Asp Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu876Gly Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu884Asp Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly1000Ser Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly56Ser Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly901Arg Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His1093Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile273Val Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu870Phe Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys20Gln Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ser915Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1141Ile Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Thr595Ala Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Thr777Ile Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Thr99Ala Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val1066Met Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val256Phe Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val419Ile Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val578Ile Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Val67Ile Multiple submitters autoimmune interstitial lung disease-arthritis syndrome ⚠
  • c.1076+4A>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1077-6CT[3] Single submitter
  • c.1077-7T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1219+5G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.1303-3C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.154+6A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+3A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+4A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2263+5G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.228+5A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.229-3C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2476+11_2476+12delinsGA Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2476+5G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2476+6T>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2476+9C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2677-2A>G Single submitter
  • c.2754+5G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2773_2823+12dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.2823+3A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.309+5G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.309+6T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.310-3C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3147+4G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3148-3C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3258+4A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3258+6A>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.3420+5A>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.386+6G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.386+7C>T Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.496+15T>G Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.497-7T>G Single submitter
  • c.606+6T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.842+6G>A Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.925+2T>C Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • c.926-5_926-2dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.835ID[1] Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala1048fs Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ala1138Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala1171Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala195Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala211Val Single submitter Inborn genetic diseases ⚠
  • p.Ala422Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala469Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala510Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala534Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala762Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala792Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala792Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala799Pro Single submitter ⚠
  • p.Ala833Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ala898Glu Single submitter ⚠
  • p.Arg1009Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1058Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1083Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1106His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1106Leu Single submitter ⚠
  • p.Arg1126Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1174Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1178Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1217Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg1224Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg160His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg168Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg206His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg227His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg233Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg274Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg281Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg288Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg288His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg321Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg321Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg358Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg39Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg39Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg423Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg425Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg431Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg516His Single submitter Inborn genetic diseases ⚠
  • p.Arg572Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg588Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg648Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg696Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg696His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg717His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg726Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg84Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg965Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg965Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Arg967Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn1110Ser Single submitter COPA-related disorder ⚠
  • p.Asn1159Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn135Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn331Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn424Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn605Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn617Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn617Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn686Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn686Thr Single submitter autoinflammation and autoimmunity with immune dysregulation 1 ⚠
  • p.Asn922Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn984Tyr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asn994Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp113Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp163Val Single submitter Inborn genetic diseases ⚠
  • p.Asp188His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp188Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp292Tyr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp37Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp37Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp401Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp430Gly Single submitter ⚠
  • p.Asp468Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp470Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp499Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp536Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp536Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp670Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp836Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp838Ala Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp848Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp854Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp868Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Asp868del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Cys1057Ter Single submitter
  • p.Cys1085Phe Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Cys129Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Cys140Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys453Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Cys514Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Cys921Tyr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln1045fs Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln1199Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln1222Ter Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln123Leu Single submitter ⚠
  • p.Gln142His Single submitter ⚠
  • p.Gln343Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln478Ter Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln479= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln852His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln918= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gln918Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln925Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln925Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gln925Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu1027Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1076Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu1149Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu241Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu320Lys Single submitter ⚠
  • p.Glu455Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu537Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu659Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu691Ala Single submitter ⚠
  • p.Glu770Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu772Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu772Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu776Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu783Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu847Lys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu875Gly Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Glu884del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Glu903Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly1132Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly1189Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly166Val Single submitter Inborn genetic diseases ⚠
  • p.Gly207Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly223Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly247Asp Single submitter autoinflammation and autoimmunity with immune dysregulation 1 ⚠
  • p.Gly312Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly330= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gly360Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly462Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly539Trp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly556Ala Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly575Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly633Ala Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gly766Cys Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly826Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly826Trp Single submitter ⚠
  • p.Gly829del Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Gly829Glu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly841Asp Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly846Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly897Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Gly995Ser Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His102Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His103Tyr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His134Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His248Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His258Tyr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His334Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His334Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His433Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His502Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His509= Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.His613Pro Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.His732Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile1032Ser Single submitter ⚠
  • p.Ile1054Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile1084Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile117Val Single submitter ⚠
  • p.Ile1200Thr Single submitter ⚠
  • p.Ile1218fs Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Ile1218Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile1218Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile264Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile315Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile549Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile592Val Single submitter Inborn genetic diseases ⚠
  • p.Ile625Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile626Thr Single submitter ⚠
  • p.Ile658Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile709Phe Single submitter ⚠
  • p.Ile75Met Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile837Met Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile894Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Ile919Leu Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu1001Met Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu1034Ile Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu1111Met Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu1115Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu1131Arg Single submitter ⚠
  • p.Leu1131Phe Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu1187Phe Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu172Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu344Gln Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu357dup Single submitter autoimmune interstitial lung disease-arthritis syndrome
  • p.Leu435Ile Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu43Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu466Phe Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu518Val Single submitter Inborn genetic diseases ⚠
  • p.Leu564Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu601Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu639Val Single submitter ⚠
  • p.Leu651Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu662Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu703Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu706Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu757Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu795His Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu853Phe Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu932Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu942Phe Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu973Pro Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Leu992Val Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys1184Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys238Asn Single submitter ⚠
  • p.Lys619Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys619Asn Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys671Arg Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠
  • p.Lys8Arg Single submitter Inborn genetic diseases ⚠
  • p.Met1101Thr Single submitter autoimmune interstitial lung disease-arthritis syndrome ⚠