SIAE — 518 ClinVar variants
All ClinVar germline SIAE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →
7 Conflicting · 22 Benign · 157 Likely benign · 332 Uncertain significance
Full SIAE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 261
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- SIAE p.Arg306His Conflicting Single submitter
- SIAE p.Arg448Gln Conflicting Single submitter
- SIAE p.Arg62Cys Conflicting Single submitter
- SIAE p.Gly212Arg Conflicting Single submitter
- SIAE p.Thr56Ala Conflicting Single submitter
- SIAE p.Val170Ala Conflicting Single submitter
- SIAE p.Val274Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 194
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 194
-
SIAE p.Ala385Thr
Uncertain significance
Multiple submitters
autoimmune disease, susceptibility to, 6
- SIAE p.Arg301His Uncertain significance Multiple submitters
-
SIAE p.Cys196Phe
Uncertain significance
Multiple submitters
autoimmune disease, susceptibility to, 6
- SIAE p.Cys449Ser Uncertain significance Multiple submitters
- SIAE p.Gln309Arg Uncertain significance Multiple submitters
- SIAE p.Glu488Asp Uncertain significance Multiple submitters
- SIAE p.Gly54Glu Uncertain significance Multiple submitters
- SIAE p.Gly5Ala Uncertain significance Multiple submitters
-
SIAE p.Gly9Arg
Uncertain significance
Multiple submitters
SIAE-related disorder
- SIAE p.His342Gln Uncertain significance Multiple submitters
- SIAE p.Ile24Phe Uncertain significance Multiple submitters
- SIAE p.Ile441Leu Uncertain significance Multiple submitters
- SIAE p.Leu103Ser Uncertain significance Multiple submitters
- SIAE p.Lys329Glu Uncertain significance Multiple submitters
- SIAE p.Lys381Gln Uncertain significance Multiple submitters
- SIAE p.Met360Lys Uncertain significance Multiple submitters
- SIAE p.Met456Arg Uncertain significance Multiple submitters
- SIAE p.Pro515Leu Uncertain significance Multiple submitters
- SIAE p.Pro88Ala Uncertain significance Multiple submitters
- SIAE p.Ser216Phe Uncertain significance Multiple submitters
- SIAE p.Thr458Ile Uncertain significance Multiple submitters
- SIAE p.Trp17Ser Uncertain significance Multiple submitters
- SIAE p.Trp451Arg Uncertain significance Multiple submitters
- SIAE p.Val362Ile Uncertain significance Multiple submitters
- SIAE p.Ala147Val Uncertain significance Single submitter
- SIAE p.Ala148Pro Uncertain significance Single submitter
- SIAE p.Ala171Val Uncertain significance Single submitter
- SIAE p.Ala215Thr Uncertain significance Single submitter
- SIAE p.Ala225Thr Uncertain significance Single submitter
- SIAE p.Ala22Thr Uncertain significance Single submitter
- SIAE p.Ala295Val Uncertain significance Single submitter
- SIAE p.Ala396Val Uncertain significance Single submitter
- SIAE p.Ala3Val Uncertain significance Single submitter
- SIAE p.Ala416Thr Uncertain significance Single submitter
- SIAE p.Ala416Val Uncertain significance Single submitter
- SIAE p.Ala45Ser Uncertain significance Single submitter
- SIAE p.Ala467Pro Uncertain significance Single submitter
- SIAE p.Ala477Ser Uncertain significance Single submitter
- SIAE p.Arg201Ser Uncertain significance Single submitter
- SIAE p.Arg20Gly Uncertain significance Single submitter
- SIAE p.Arg20Thr Uncertain significance Single submitter
- SIAE p.Arg230Gln Uncertain significance Single submitter
- SIAE p.Arg301Cys Uncertain significance Single submitter
- SIAE p.Arg340Cys Uncertain significance Single submitter
- SIAE p.Arg340His Uncertain significance Single submitter
- SIAE p.Arg369Ser Uncertain significance Single submitter
- SIAE p.Arg387Trp Uncertain significance Single submitter
- SIAE p.Arg479Cys Uncertain significance Single submitter
- SIAE p.Arg479Leu Uncertain significance Single submitter
- SIAE p.Arg62His Uncertain significance Single submitter
- SIAE p.Asn107Lys Uncertain significance Single submitter
- SIAE p.Asn183Asp Uncertain significance Single submitter
- SIAE p.Asn285Tyr Uncertain significance Single submitter
- SIAE p.Asn290Tyr Uncertain significance Single submitter
- SIAE p.Asn33Lys Uncertain significance Single submitter
- SIAE p.Asn33Ser Uncertain significance Single submitter
- SIAE p.Asn357Ser Uncertain significance Single submitter
- SIAE p.Asn422Ser Uncertain significance Single submitter
- SIAE p.Asn520Ser Uncertain significance Single submitter
- SIAE p.Asp114Asn Uncertain significance Single submitter
- SIAE p.Asp114Gly Uncertain significance Single submitter
- SIAE p.Asp334Asn Uncertain significance Single submitter
- SIAE p.Asp368Gly Uncertain significance Single submitter
- SIAE p.Asp370Glu Uncertain significance Single submitter
- SIAE p.Asp370Gly Uncertain significance Single submitter
- SIAE p.Asp370His Uncertain significance Single submitter
- SIAE p.Asp370Val Uncertain significance Single submitter
- SIAE p.Asp380Tyr Uncertain significance Single submitter
- SIAE p.Asp435Gly Uncertain significance Single submitter
- SIAE p.Asp469Asn Uncertain significance Single submitter
- SIAE p.Asp512Val Uncertain significance Single submitter
- SIAE p.Asp80Gly Uncertain significance Single submitter
- SIAE p.Asp87Asn Uncertain significance Single submitter
- SIAE p.Cys266Arg Uncertain significance Single submitter
- SIAE p.Cys291Tyr Uncertain significance Single submitter
- SIAE p.Gln101Lys Uncertain significance Single submitter
- SIAE p.Gln161Lys Uncertain significance Single submitter
- SIAE p.Gln208His Uncertain significance Single submitter
- SIAE p.Gln309His Uncertain significance Single submitter
- SIAE p.Gln322Arg Uncertain significance Single submitter
- SIAE p.Gln338Arg Uncertain significance Single submitter
- SIAE p.Gln338His Uncertain significance Single submitter
- SIAE p.Gln343Arg Uncertain significance Single submitter
- SIAE p.Gln39His Uncertain significance Single submitter
- SIAE p.Gln428Leu Uncertain significance Single submitter
- SIAE p.Gln462Arg Uncertain significance Single submitter
- SIAE p.Gln491Arg Uncertain significance Single submitter
- SIAE p.Glu104Gln Uncertain significance Single submitter
- SIAE p.Glu182Lys Uncertain significance Single submitter
- SIAE p.Glu298Asp Uncertain significance Single submitter
- SIAE p.Glu298Lys Uncertain significance Single submitter
- SIAE p.Gly200Val Uncertain significance Single submitter
- SIAE p.Gly219Val Uncertain significance Single submitter
- SIAE p.Gly229Glu Uncertain significance Single submitter
- SIAE p.Gly278Arg Uncertain significance Single submitter
- SIAE p.Gly278Glu Uncertain significance Single submitter
- SIAE p.Gly348Arg Uncertain significance Single submitter
- SIAE p.Gly419Arg Uncertain significance Single submitter
- SIAE p.Gly49Val Uncertain significance Single submitter
- SIAE p.Gly5Arg Uncertain significance Single submitter
- SIAE p.Gly64Asp Uncertain significance Single submitter
- SIAE p.Gly92Ala Uncertain significance Single submitter
- SIAE p.Gly93Arg Uncertain significance Single submitter
- SIAE p.Gly93Glu Uncertain significance Single submitter
- SIAE p.Gly9Trp Uncertain significance Single submitter
- SIAE p.His113Arg Uncertain significance Single submitter
- SIAE p.His186Asn Uncertain significance Single submitter
- SIAE p.His186Tyr Uncertain significance Single submitter
- SIAE p.His447Arg Uncertain significance Single submitter
- SIAE p.His472Tyr Uncertain significance Single submitter
- SIAE p.Ile136Val Uncertain significance Single submitter
- SIAE p.Ile160Val Uncertain significance Single submitter
- SIAE p.Ile32Val Uncertain significance Single submitter
- SIAE p.Ile376Val Uncertain significance Single submitter
- SIAE p.Ile412Thr Uncertain significance Single submitter
- SIAE p.Ile441Ser Uncertain significance Single submitter
- SIAE p.Ile510Val Uncertain significance Single submitter
- SIAE p.Ile68Val Uncertain significance Single submitter
- SIAE p.Leu116Met Uncertain significance Single submitter
- SIAE p.Leu143Val Uncertain significance Single submitter
- SIAE p.Leu16Pro Uncertain significance Single submitter
- SIAE p.Leu213Pro Uncertain significance Single submitter
- SIAE p.Leu323Phe Uncertain significance Single submitter
- SIAE p.Leu414Ile Uncertain significance Single submitter
- SIAE p.Leu423Val Uncertain significance Single submitter
- SIAE p.Leu452Pro Uncertain significance Single submitter
- SIAE p.Lys239Glu Uncertain significance Single submitter
- SIAE p.Lys329Gln Uncertain significance Single submitter
- SIAE p.Lys329Thr Uncertain significance Single submitter
- SIAE p.Lys400Asn Uncertain significance Single submitter
- SIAE p.Lys400Glu Uncertain significance Single submitter
-
SIAE p.Lys434Thr
Uncertain significance
Single submitter
juvenile idiopathic arthritis
- SIAE p.Lys90Arg Uncertain significance Single submitter
- SIAE p.Met129Thr Uncertain significance Single submitter
- SIAE p.Met131Leu Uncertain significance Single submitter
- SIAE p.Met69Val Uncertain significance Single submitter
- SIAE p.Met83Val Uncertain significance Single submitter
- SIAE p.Phe318Val Uncertain significance Single submitter
- SIAE p.Phe439Ile Uncertain significance Single submitter
- SIAE p.Phe439Ser Uncertain significance Single submitter
- SIAE p.Pro210Leu Uncertain significance Single submitter
- SIAE p.Pro244Leu Uncertain significance Single submitter
- SIAE p.Pro251Ser Uncertain significance Single submitter
- SIAE p.Pro317Gln Uncertain significance Single submitter
- SIAE p.Pro407Ser Uncertain significance Single submitter
- SIAE p.Pro409Ser Uncertain significance Single submitter
- SIAE p.Pro4Ala Uncertain significance Single submitter
- SIAE p.Pro53Thr Uncertain significance Single submitter
- SIAE p.Pro91Arg Uncertain significance Single submitter
- SIAE p.Ser127Asn Uncertain significance Single submitter
Predictors split 60
The independent predictors disagree with each other — read with care.
- SIAE p.Arg306Cys Uncertain significance Multiple submitters
- SIAE p.Glu399Lys Uncertain significance Multiple submitters
- SIAE p.Gly220Arg Uncertain significance Multiple submitters
- SIAE p.Leu296Phe Benign Multiple submitters
- SIAE p.Met36Ile Uncertain significance Multiple submitters
-
SIAE p.Phe404Ser
Uncertain significance
Multiple submitters
autoimmune disease, susceptibility to, 6
- SIAE p.Val84Met Uncertain significance Multiple submitters
- SIAE p.Ala361Gly Uncertain significance Single submitter
- SIAE p.Ala394Thr Uncertain significance Single submitter
- SIAE p.Ala477Val Uncertain significance Single submitter
- SIAE p.Arg153Cys Uncertain significance Single submitter
- SIAE p.Arg201Cys Uncertain significance Single submitter
- SIAE p.Arg201His Uncertain significance Single submitter
- SIAE p.Arg230Trp Uncertain significance Single submitter
- SIAE p.Arg27Cys Uncertain significance Single submitter
- SIAE p.Arg314Cys Uncertain significance Single submitter
- SIAE p.Arg314Gly Uncertain significance Single submitter
- SIAE p.Arg314His Uncertain significance Single submitter
- SIAE p.Arg379Gly Likely benign Single submitter
- SIAE p.Arg393Cys Uncertain significance Single submitter
- SIAE p.Arg393His Uncertain significance Single submitter
- SIAE p.Arg393Leu Uncertain significance Single submitter
- SIAE p.Arg448Pro Uncertain significance Single submitter
- SIAE p.Arg479His Uncertain significance Single submitter
- SIAE p.Asp287Gly Uncertain significance Single submitter
- SIAE p.Asp287Val Likely benign Single submitter
- SIAE p.Gln309Pro Uncertain significance Single submitter
-
SIAE p.Glu440Lys
Uncertain significance
Single submitter
autoimmune disease, susceptibility to, 6
- SIAE p.Glu96Lys Uncertain significance Single submitter
- SIAE p.Gly348Ser Uncertain significance Single submitter
- SIAE p.Gly398Val Uncertain significance Single submitter
- SIAE p.Gly51Ser Likely benign Single submitter
- SIAE p.His113Pro Uncertain significance Single submitter
- SIAE p.His305Arg Uncertain significance Single submitter
- SIAE p.Ile214Met Uncertain significance Single submitter
- SIAE p.Ile339Thr Uncertain significance Single submitter
- SIAE p.Ile507Ser Uncertain significance Single submitter
- SIAE p.Leu207Gln Uncertain significance Single submitter
- SIAE p.Met131Ile Uncertain significance Single submitter
- SIAE p.Met261Val Uncertain significance Single submitter
- SIAE p.Met268Ile Uncertain significance Single submitter
- SIAE p.Met360Leu Uncertain significance Single submitter
- SIAE p.Met360Val Uncertain significance Single submitter
- SIAE p.Met36Thr Uncertain significance Single submitter
- SIAE p.Phe293Leu Uncertain significance Single submitter
- SIAE p.Pro210Thr Uncertain significance Single submitter
- SIAE p.Pro222Leu Uncertain significance Single submitter
- SIAE p.Pro251Leu Uncertain significance Single submitter
- SIAE p.Pro317Leu Uncertain significance Single submitter
- SIAE p.Pro317Ser Uncertain significance Single submitter
- SIAE p.Pro504Leu Uncertain significance Single submitter
- SIAE p.Ser156Phe Uncertain significance Single submitter
- SIAE p.Thr180Pro Uncertain significance Single submitter
- SIAE p.Thr292Ile Uncertain significance Single submitter
-
SIAE p.Thr312Met
Uncertain significance
Single submitter
autoimmune disease, susceptibility to, 6
- SIAE p.Tyr289Phe Uncertain significance Single submitter
- SIAE p.Tyr425Cys Uncertain significance Single submitter
- SIAE p.Val120Ile Uncertain significance Single submitter
- SIAE p.Val195Met Uncertain significance Single submitter
- SIAE p.Val59Met Uncertain significance Single submitter
All SIAE variants
Conflicting classifications of pathogenicity 7
- p.Arg306His Single submitter ⚠
- p.Arg448Gln Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Gly212Arg Single submitter ⚠
- p.Thr56Ala Single submitter ⚠
- p.Val170Ala Single submitter ⚠
- p.Val274Ile Single submitter ⚠
Benign 22
- c.229+19C>T Multiple submitters
- c.229+20G>A Multiple submitters
- c.406-19G>C Multiple submitters
- c.544+18C>T Multiple submitters
- p.Ala467Val Multiple submitters
- p.Arg340= Multiple submitters
- p.Gly64Ser Multiple submitters
- p.His472Gln Multiple submitters
- p.Leu296Phe Multiple submitters ⚠
- p.Lys71Arg Multiple submitters
- p.Met89Val Multiple submitters autoimmune disease, susceptibility to, 6
- p.Phe347= Multiple submitters
- p.Ser156= Multiple submitters
- p.Thr286Met Multiple submitters
- p.Thr484= Multiple submitters
- p.Tyr191= Multiple submitters
- c.1320+8_1320+10del Single submitter
- p.Asp246Asn Single submitter
- p.Gly419Glu Single submitter
- p.Ile211= Single submitter
- p.Leu494= Single submitter
- p.Phe293= Single submitter
Likely benign 157
- c.966+18G>C Multiple submitters
- p.Ala3Gly Multiple submitters
- p.Phe95= Multiple submitters
- c.1124+12T>A Single submitter
- c.1125-12C>T Single submitter
- c.1125-16G>A Single submitter
- c.1125-7C>T Single submitter
- c.1320+16G>A Single submitter
- c.1321-10C>T Single submitter
- c.1321-12CT[2] Single submitter
- c.1321-16A>G Single submitter
- c.1321-18T>G Single submitter
- c.229+11_229+12insT Single submitter
- c.229+16T>G Single submitter
- c.230-13G>A Single submitter
- c.230-15C>A Single submitter
- c.230-4T>G Single submitter
- c.230-7A>G Single submitter
- c.405+13G>A Single submitter
- c.405+14T>C Single submitter
- c.405+15C>T Single submitter
- c.405+17C>A Single submitter
- c.405+17C>G Single submitter
- c.405+8G>A Single submitter
- c.405+9C>G Single submitter
- c.406-13A>C Single submitter
- c.406-17T>C Single submitter
- c.406-19G>A Single submitter
- c.406-20C>T Single submitter
- c.406-9C>A Single submitter
- c.406-9C>T Single submitter
- c.544+10G>A Single submitter
- c.544+11G>T Single submitter
- c.544+19G>A Single submitter
- c.544+19G>C Single submitter
- c.544+20T>C Single submitter
- c.544+9C>T Single submitter
- c.545-15C>G Single submitter
- c.545-20T>C Single submitter
- c.67+10C>T Single submitter
- c.67+15C>T Single submitter
- c.67+17C>A Single submitter
- c.67+17C>T Single submitter
- c.68-11A>T Single submitter
- c.68-14G>A Single submitter
- c.68-14G>C Single submitter
- c.68-15T>C Single submitter
- c.68-20G>A Single submitter
- c.68-8T>A Single submitter
- c.68-9A>C Single submitter
- c.722+11A>G Single submitter
- c.723-16C>T Single submitter
- c.723-17G>T Single submitter
- c.723-18T>C Single submitter
- c.723-19G>T Single submitter
- c.723-9T>C Single submitter
- c.832+10C>T Single submitter
- c.832+17C>G Single submitter
- c.832+18T>A Single submitter
- c.832+8T>G Single submitter
- c.833-13G>A Single submitter
- c.833-5T>C Single submitter
- c.967-13C>G Single submitter
- c.967-13C>T Single submitter
- c.967-17A>C Single submitter
- c.967-17A>G Single submitter
- c.967-18A>G Single submitter
- c.967-4C>G Single submitter
- p.Ala139= Single submitter
- p.Ala147= Single submitter
- p.Ala148= Single submitter
- p.Ala171= Single submitter
- p.Ala3= Single submitter
- p.Ala467= Single submitter
- p.Ala481= Single submitter
- p.Arg153= Single submitter
- p.Arg230= Single submitter
- p.Arg379Gly Single submitter ⚠
- p.Arg387Gln Single submitter
- p.Asn138= Single submitter
- p.Asn285= Single submitter
- p.Asp114= Single submitter
- p.Asp287Val Single submitter ⚠
- p.Asp326= Single submitter
- p.Asp333= Single submitter
- p.Asp334= Single submitter
- p.Asp346= Single submitter
- p.Asp380= Single submitter
- p.Cys291= Single submitter
- p.Cys367= Single submitter
- p.Cys492= Single submitter
- p.Gln175= Single submitter
- p.Gln208= Single submitter
- p.Gln343= Single submitter
- p.Glu165= Single submitter
- p.Glu488= Single submitter
- p.Gly219= Single submitter
- p.Gly220= Single submitter
- p.Gly307= Single submitter
- p.Gly5= Single submitter
- p.Gly514= Single submitter
- p.Gly51Ser Single submitter ⚠
- p.His472= Single submitter
- p.His496= Single submitter
- p.Ile214= Single submitter
- p.Ile223= Single submitter
- p.Ile243Val Single submitter
- p.Ile297= Single submitter
- p.Ile32= Single submitter
- p.Ile339= Single submitter
- p.Ile68= Single submitter
- p.Leu14= Single submitter
- p.Leu143= Single submitter
- p.Leu16= Single submitter
- p.Leu169= Single submitter
- p.Leu207= Single submitter
- p.Leu270= Single submitter
- p.Leu288= Single submitter
- p.Leu366= Single submitter
- p.Leu390= Single submitter
- p.Leu420= Single submitter
- p.Leu8= Single submitter
- p.Lys400= Single submitter
- p.Lys433= Single submitter
- p.Phe199= Single submitter
- p.Phe304= Single submitter
- p.Phe50= Single submitter
- p.Phe506= Single submitter
- p.Pro317= Single submitter
- p.Pro493= Single submitter
- p.Pro497= Single submitter
- p.Ser217= Single submitter
- p.Ser280= Single submitter
- p.Ser371= Single submitter
- p.Ser455= Single submitter
- p.Ser499= Single submitter
- p.Thr109= Single submitter
- p.Thr140= Single submitter
- p.Thr286= Single submitter
- p.Thr312= Single submitter
- p.Thr344= Single submitter
- p.Thr461= Single submitter
- p.Thr483= Single submitter
- p.Thr52= Single submitter
- p.Thr58= Single submitter
- p.Thr81= Single submitter
- p.Tyr245= Single submitter
- p.Tyr284= Single submitter
- p.Tyr480= Single submitter
- p.Val11= Single submitter
- p.Val2= Single submitter
- p.Val273= Single submitter
- p.Val350= Single submitter
- p.Val475= Single submitter
- p.Val75= Single submitter
- p.Val85= Single submitter
- p.Val97= Single submitter
Uncertain significance 332
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala385Thr Multiple submitters autoimmune disease, susceptibility to, 6 ⚠
- p.Arg301His Multiple submitters ⚠
- p.Arg306Cys Multiple submitters ⚠
- p.Cys196Phe Multiple submitters autoimmune disease, susceptibility to, 6 ⚠
- p.Cys449Ser Multiple submitters ⚠
- p.Gln309Arg Multiple submitters ⚠
- p.Glu399Lys Multiple submitters ⚠
- p.Glu488Asp Multiple submitters ⚠
- p.Gly220Arg Multiple submitters ⚠
- p.Gly54Glu Multiple submitters ⚠
- p.Gly5Ala Multiple submitters ⚠
- p.Gly9Arg Multiple submitters SIAE-related disorder ⚠
- p.His342Gln Multiple submitters ⚠
- p.Ile24Phe Multiple submitters ⚠
- p.Ile441Leu Multiple submitters ⚠
- p.Leu103Ser Multiple submitters ⚠
- p.Lys329Glu Multiple submitters ⚠
- p.Lys381Gln Multiple submitters ⚠
- p.Met360Lys Multiple submitters ⚠
- p.Met36Ile Multiple submitters ⚠
- p.Met456Arg Multiple submitters ⚠
- p.Phe404Ser Multiple submitters autoimmune disease, susceptibility to, 6 ⚠
- p.Pro515Leu Multiple submitters ⚠
- p.Pro88Ala Multiple submitters ⚠
- p.Ser216Phe Multiple submitters ⚠
- p.Thr458Ile Multiple submitters ⚠
- p.Trp17Ser Multiple submitters ⚠
- p.Trp451Arg Multiple submitters ⚠
- p.Val362Ile Multiple submitters ⚠
- p.Val84Met Multiple submitters ⚠
- c.1124+3A>G Single submitter
- c.1124+6A>T Single submitter
- c.1125-2A>C Single submitter
- c.1320+2T>G Single submitter
- c.1321-2A>G Single submitter
- c.1321-4T>G Single submitter
- c.229+1G>T Single submitter
- c.229+4del Single submitter
- c.230-1G>A Single submitter
- c.230-1G>T Single submitter
- c.230-6T>C Single submitter
- c.406-13A>G Single submitter
- c.406-5_406-4insTCAATTTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGGCGGCTGGGAGGTGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTTGGCACCATTGAGCACTC Single submitter
- c.544+1_544+2insC Single submitter
- c.544+2dup Single submitter
- c.545-5A>C Single submitter
- c.723-3C>G Single submitter
- c.832+1G>A Single submitter
- c.833-3T>A Single submitter
- c.966+3A>G Single submitter
- c.966+4C>T Single submitter
- c.966+5G>A Single submitter
- c.967-1del Single submitter
- p.Ala147Val Single submitter ⚠
- p.Ala148Pro Single submitter ⚠
- p.Ala162fs Single submitter
- p.Ala171Val Single submitter ⚠
- p.Ala215Thr Single submitter ⚠
- p.Ala225Thr Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala361Gly Single submitter ⚠
- p.Ala394Thr Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala416Thr Single submitter ⚠
- p.Ala416Val Single submitter ⚠
- p.Ala45fs Single submitter
- p.Ala45Ser Single submitter ⚠
- p.Ala467Pro Single submitter ⚠
- p.Ala477Ser Single submitter ⚠
- p.Ala477Val Single submitter ⚠
- p.Arg153Cys Single submitter ⚠
- p.Arg201Cys Single submitter ⚠
- p.Arg201His Single submitter ⚠
- p.Arg201Ser Single submitter ⚠
- p.Arg20Gly Single submitter ⚠
- p.Arg20Thr Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg27Cys Single submitter ⚠
- p.Arg301Cys Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg314Gly Single submitter ⚠
- p.Arg314His Single submitter ⚠
- p.Arg340Cys Single submitter ⚠
- p.Arg340His Single submitter ⚠
- p.Arg369fs Single submitter
- p.Arg369Ser Single submitter ⚠
- p.Arg379Ter Single submitter
- p.Arg387Trp Single submitter ⚠
- p.Arg393Cys Single submitter ⚠
- p.Arg393His Single submitter ⚠
- p.Arg393Leu Single submitter ⚠
- p.Arg448Pro Single submitter ⚠
- p.Arg448Ter Single submitter
- p.Arg479Cys Single submitter ⚠
- p.Arg479His Single submitter ⚠
- p.Arg479Leu Single submitter ⚠
- p.Arg62His Single submitter ⚠
- p.Asn107Lys Single submitter ⚠
- p.Asn183Asp Single submitter ⚠
- p.Asn285Tyr Single submitter ⚠
- p.Asn290Tyr Single submitter ⚠
- p.Asn33Lys Single submitter ⚠
- p.Asn33Ser Single submitter ⚠
- p.Asn352fs Single submitter
- p.Asn357Ser Single submitter ⚠
- p.Asn422fs Single submitter
- p.Asn422Ser Single submitter ⚠
- p.Asn436del Single submitter
- p.Asn520Ser Single submitter ⚠
- p.Asp114Asn Single submitter ⚠
- p.Asp114Gly Single submitter ⚠
- p.Asp287Gly Single submitter ⚠
- p.Asp299fs Single submitter
- p.Asp334Asn Single submitter ⚠
- p.Asp368Asn Single submitter
- p.Asp368Gly Single submitter ⚠
- p.Asp370Glu Single submitter ⚠
- p.Asp370Gly Single submitter ⚠
- p.Asp370His Single submitter ⚠
- p.Asp370Val Single submitter ⚠
- p.Asp380Tyr Single submitter ⚠
- p.Asp435Gly Single submitter ⚠
- p.Asp469Asn Single submitter ⚠
- p.Asp512Val Single submitter ⚠
- p.Asp80Gly Single submitter ⚠
- p.Asp87Asn Single submitter ⚠
- p.Cys266Arg Single submitter ⚠
- p.Cys291Tyr Single submitter ⚠
- p.Cys492fs Single submitter
- p.Gln101Lys Single submitter ⚠
- p.Gln101Ter Single submitter
- p.Gln130His Single submitter
- p.Gln130Ter Single submitter
- p.Gln161Lys Single submitter ⚠
- p.Gln161Ter Single submitter
- p.Gln208His Single submitter ⚠
- p.Gln309His Single submitter ⚠
- p.Gln309Pro Single submitter ⚠
- p.Gln322Arg Single submitter ⚠
- p.Gln338Arg Single submitter ⚠
- p.Gln338His Single submitter ⚠
- p.Gln343Arg Single submitter ⚠
- p.Gln382fs Single submitter
- p.Gln39His Single submitter ⚠
- p.Gln427Ter Single submitter
- p.Gln428Leu Single submitter ⚠
- p.Gln462Arg Single submitter ⚠
- p.Gln491Arg Single submitter ⚠
- p.Gln518Ter Single submitter
- p.Glu104Gln Single submitter ⚠
- p.Glu182Lys Single submitter ⚠
- p.Glu298Asp Single submitter ⚠
- p.Glu298Lys Single submitter ⚠
- p.Glu440Lys Single submitter autoimmune disease, susceptibility to, 6 ⚠
- p.Glu488_Cys492delinsGly Single submitter
- p.Glu66fs Single submitter
- p.Glu96Lys Single submitter ⚠
- p.Gly200Val Single submitter ⚠
- p.Gly219Val Single submitter ⚠
- p.Gly229Glu Single submitter ⚠
- p.Gly278Arg Single submitter ⚠
- p.Gly278Glu Single submitter ⚠
- p.Gly319fs Single submitter
- p.Gly348Arg Single submitter ⚠
- p.Gly348Ser Single submitter ⚠
- p.Gly398Val Single submitter ⚠
- p.Gly419Arg Single submitter ⚠
- p.Gly49Val Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Gly64Asp Single submitter ⚠
- p.Gly92Ala Single submitter ⚠
- p.Gly93Arg Single submitter ⚠
- p.Gly93Glu Single submitter ⚠
- p.Gly9Trp Single submitter ⚠
- p.His113Arg Single submitter ⚠
- p.His113Pro Single submitter ⚠
- p.His186Asn Single submitter ⚠
- p.His186Tyr Single submitter ⚠
- p.His305Arg Single submitter ⚠
- p.His447Arg Single submitter ⚠
- p.His472Tyr Single submitter ⚠
- p.Ile136Val Single submitter ⚠
- p.Ile160Val Single submitter ⚠
- p.Ile214Met Single submitter ⚠
- p.Ile223fs Single submitter
- p.Ile32Val Single submitter ⚠
- p.Ile339Thr Single submitter ⚠
- p.Ile376Val Single submitter ⚠
- p.Ile412fs Single submitter
- p.Ile412Thr Single submitter ⚠
- p.Ile441Ser Single submitter ⚠
- p.Ile468= Single submitter
- p.Ile507Ser Single submitter ⚠
- p.Ile510Val Single submitter ⚠
- p.Ile68Val Single submitter ⚠
- p.Leu116fs Single submitter
- p.Leu116Met Single submitter ⚠
- p.Leu143Val Single submitter ⚠
- p.Leu16Pro Single submitter ⚠
- p.Leu207Gln Single submitter ⚠
- p.Leu213Pro Single submitter ⚠
- p.Leu323Phe Single submitter ⚠
- p.Leu414Ile Single submitter ⚠
- p.Leu423Val Single submitter ⚠
- p.Leu452Pro Single submitter ⚠
- p.Leu464fs Single submitter
- p.Leu494fs Single submitter
- p.Lys239Glu Single submitter ⚠
- p.Lys253_His254delinsAsn Single submitter
- p.Lys329Gln Single submitter ⚠
- p.Lys329Thr Single submitter ⚠
- p.Lys330del Single submitter
- p.Lys381fs Single submitter
- p.Lys400Asn Single submitter ⚠
- p.Lys400del Single submitter
- p.Lys400Glu Single submitter ⚠
- p.Lys434fs Single submitter
- p.Lys434Thr Single submitter juvenile idiopathic arthritis ⚠
- p.Lys450Ter Single submitter
- p.Lys90Arg Single submitter ⚠
- p.Met129Thr Single submitter ⚠
- p.Met131Ile Single submitter ⚠
- p.Met131Leu Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met1Thr Single submitter
- p.Met1Val Single submitter
- p.Met261Val Single submitter ⚠
- p.Met268Ile Single submitter ⚠
- p.Met360Leu Single submitter ⚠
- p.Met360Val Single submitter ⚠
- p.Met36Thr Single submitter ⚠
- p.Met69Ile Single submitter
- p.Met69Val Single submitter ⚠
- p.Met83Val Single submitter ⚠
- p.Phe199fs Single submitter
- p.Phe293Leu Single submitter ⚠
- p.Phe318fs Single submitter
- p.Phe318Val Single submitter ⚠
- p.Phe336Ser Single submitter
- p.Phe439Ile Single submitter ⚠
- p.Phe439Ser Single submitter ⚠
- p.Phe50fs Single submitter
- p.Phe95fs Single submitter
- p.Pro210Leu Single submitter ⚠
- p.Pro210Thr Single submitter ⚠
- p.Pro222Leu Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro251Leu Single submitter ⚠
- p.Pro251Ser Single submitter ⚠
- p.Pro317Gln Single submitter ⚠
- p.Pro317Leu Single submitter ⚠
- p.Pro317Ser Single submitter ⚠
- p.Pro407Ser Single submitter ⚠
- p.Pro409Ser Single submitter ⚠
- p.Pro4Ala Single submitter ⚠
- p.Pro504Leu Single submitter ⚠
- p.Pro505del Single submitter
- p.Pro53Thr Single submitter ⚠
- p.Pro91Arg Single submitter ⚠
- p.Ser127Asn Single submitter ⚠
- p.Ser156Phe Single submitter ⚠
- p.Ser181Lys Single submitter
- p.Ser228Phe Single submitter ⚠
- p.Ser247fs Single submitter
- p.Ser247Phe Single submitter ⚠
- p.Ser255Ala Single submitter ⚠
- p.Ser328fs Single submitter
- p.Ser331Ile Single submitter ⚠
- p.Ser371Leu Single submitter ⚠
- p.Ser371Ter Single submitter
- p.Ser375Asn Single submitter ⚠
- p.Ser442Ala Single submitter ⚠
- p.Ser442Phe Single submitter ⚠
- p.Ser442Tyr Single submitter ⚠
- p.Ser460Phe Single submitter ⚠
- p.Ser470Phe Single submitter ⚠
- p.Ser498Arg Single submitter ⚠
- p.Ser79Cys Single submitter ⚠
- p.Thr180Pro Single submitter ⚠
- p.Thr206Ile Single submitter ⚠
- p.Thr286Arg Single submitter ⚠
- p.Thr286Lys Single submitter ⚠
- p.Thr292Ile Single submitter ⚠
- p.Thr303Ala Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Thr312Met Single submitter autoimmune disease, susceptibility to, 6 ⚠
- p.Thr383Ile Single submitter
- p.Thr458Ser Single submitter ⚠
- p.Thr484Met Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Thr81Met Single submitter ⚠
- p.Trp121Cys Single submitter ⚠
- p.Trp176fs Single submitter
- p.Trp176Ter Single submitter
- p.Trp275Cys Single submitter ⚠
- p.Trp341Ter Single submitter
- p.Trp482Ter Single submitter