NUP155 — 298 ClinVar variants
All ClinVar germline NUP155 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →
1 Pathogenic · 1 Conflicting · 53 Benign · 6 Benign/Likely benign · 51 Likely benign · 186 Uncertain significance
Full NUP155 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 172
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 126
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NUP155 p.Arg1096His Uncertain significance Multiple submitters
- NUP155 p.Arg1260His Uncertain significance Multiple submitters
- NUP155 p.Gln543Glu Uncertain significance Multiple submitters
- NUP155 p.Gly944Cys Uncertain significance Multiple submitters
-
NUP155 p.Met450Val
Uncertain significance
Multiple submitters
atrial fibrillation, familial, 15
- NUP155 p.Thr653Ser Uncertain significance Multiple submitters
- NUP155 p.Val1294Ile Uncertain significance Multiple submitters
- NUP155 p.Ala115Gly Uncertain significance Single submitter
- NUP155 p.Ala316Gly Uncertain significance Single submitter
- NUP155 p.Ala463Thr Uncertain significance Single submitter
- NUP155 p.Ala463Val Uncertain significance Single submitter
- NUP155 p.Ala638Thr Uncertain significance Single submitter
- NUP155 p.Ala808Ser Uncertain significance Single submitter
- NUP155 p.Ala851Gly Uncertain significance Single submitter
- NUP155 p.Ala964Ser Uncertain significance Single submitter
-
NUP155 p.Arg1076Cys
Uncertain significance
Single submitter
atrial fibrillation, familial, 15
- NUP155 p.Arg1076His Uncertain significance Single submitter
- NUP155 p.Arg1083Gln Uncertain significance Single submitter
-
NUP155 p.Arg1083Trp
Uncertain significance
Single submitter
atrial fibrillation, familial, 15
- NUP155 p.Arg1310Gln Uncertain significance Single submitter
- NUP155 p.Arg1333Gly Uncertain significance Single submitter
- NUP155 p.Arg288Gly Uncertain significance Single submitter
- NUP155 p.Arg28Gln Uncertain significance Single submitter
- NUP155 p.Arg410Gly Uncertain significance Single submitter
- NUP155 p.Arg750Cys Uncertain significance Single submitter
- NUP155 p.Asn1093Lys Uncertain significance Single submitter
- NUP155 p.Asn223Lys Uncertain significance Single submitter
- NUP155 p.Asn425Thr Uncertain significance Single submitter
-
NUP155 p.Asn435Ser
Uncertain significance
Single submitter
atrial fibrillation, familial, 15
- NUP155 p.Asn889His Uncertain significance Single submitter
- NUP155 p.Asp1173Val Uncertain significance Single submitter
- NUP155 p.Asp1265Glu Uncertain significance Single submitter
- NUP155 p.Asp276Glu Uncertain significance Single submitter
- NUP155 p.Asp455Asn Uncertain significance Single submitter
- NUP155 p.Asp531Asn Uncertain significance Single submitter
- NUP155 p.Asp861Gly Uncertain significance Single submitter
- NUP155 p.Cys1344Tyr Uncertain significance Single submitter
- NUP155 p.Cys651Phe Uncertain significance Single submitter
- NUP155 p.Gln20Arg Uncertain significance Single submitter
- NUP155 p.Gln320Glu Uncertain significance Single submitter
- NUP155 p.Gln442Arg Uncertain significance Single submitter
- NUP155 p.Gln726Arg Uncertain significance Single submitter
- NUP155 p.Gln760Glu Uncertain significance Single submitter
- NUP155 p.Gln783Pro Uncertain significance Single submitter
- NUP155 p.Gln910Glu Uncertain significance Single submitter
- NUP155 p.Glu1086Lys Uncertain significance Single submitter
- NUP155 p.Glu1108Gly Uncertain significance Single submitter
- NUP155 p.Glu719Gln Uncertain significance Single submitter
- NUP155 p.Glu903Ala Uncertain significance Single submitter
- NUP155 p.Glu956Gln Uncertain significance Single submitter
- NUP155 p.Gly1359Ser Uncertain significance Single submitter
- NUP155 p.Gly186Asp Uncertain significance Single submitter
- NUP155 p.Gly188Val Uncertain significance Single submitter
- NUP155 p.Gly626Val Uncertain significance Single submitter
- NUP155 p.His1328Arg Uncertain significance Single submitter
- NUP155 p.His1328Leu Uncertain significance Single submitter
- NUP155 p.His363Arg Uncertain significance Single submitter
- NUP155 p.His480Arg Uncertain significance Single submitter
- NUP155 p.His663Arg Uncertain significance Single submitter
- NUP155 p.Ile1044Leu Uncertain significance Single submitter
- NUP155 p.Ile1044Met Uncertain significance Single submitter
- NUP155 p.Ile112Val Uncertain significance Single submitter
- NUP155 p.Ile1131Met Uncertain significance Single submitter
- NUP155 p.Ile1131Val Uncertain significance Single submitter
- NUP155 p.Ile1248Ser Uncertain significance Single submitter
- NUP155 p.Ile1376Met Uncertain significance Single submitter
- NUP155 p.Ile1376Val Uncertain significance Single submitter
- NUP155 p.Ile156Val Uncertain significance Single submitter
- NUP155 p.Ile254Lys Uncertain significance Single submitter
- NUP155 p.Ile254Val Uncertain significance Single submitter
- NUP155 p.Ile30Val Uncertain significance Single submitter
- NUP155 p.Ile323Val Uncertain significance Single submitter
- NUP155 p.Ile348Met Uncertain significance Single submitter
- NUP155 p.Ile698Thr Uncertain significance Single submitter
- NUP155 p.Leu1141Pro Uncertain significance Single submitter
- NUP155 p.Leu194Phe Uncertain significance Single submitter
- NUP155 p.Leu269Ile Uncertain significance Single submitter
- NUP155 p.Leu385Pro Uncertain significance Single submitter
- NUP155 p.Leu385Val Uncertain significance Single submitter
- NUP155 p.Leu639Arg Uncertain significance Single submitter
- NUP155 p.Leu859Ser Uncertain significance Single submitter
- NUP155 p.Leu969Ile Uncertain significance Single submitter
- NUP155 p.Lys1126Arg Uncertain significance Single submitter
- NUP155 p.Lys1147Glu Uncertain significance Single submitter
- NUP155 p.Lys766Arg Uncertain significance Single submitter
- NUP155 p.Lys890Arg Uncertain significance Single submitter
- NUP155 p.Lys890Asn Uncertain significance Single submitter
- NUP155 p.Lys902Thr Uncertain significance Single submitter
- NUP155 p.Met1317Lys Uncertain significance Single submitter
- NUP155 p.Met198Val Uncertain significance Single submitter
- NUP155 p.Met494Thr Uncertain significance Single submitter
- NUP155 p.Phe1349Cys Uncertain significance Single submitter
- NUP155 p.Phe727Ile Uncertain significance Single submitter
- NUP155 p.Phe823Cys Uncertain significance Single submitter
- NUP155 p.Pro110Leu Uncertain significance Single submitter
- NUP155 p.Pro1214Leu Uncertain significance Single submitter
- NUP155 p.Pro1297Ser Uncertain significance Single submitter
- NUP155 p.Pro589Gln Uncertain significance Single submitter
- NUP155 p.Pro589Leu Uncertain significance Single submitter
- NUP155 p.Pro590Leu Uncertain significance Single submitter
- NUP155 p.Pro630Ser Uncertain significance Single submitter
- NUP155 p.Pro735Ser Uncertain significance Single submitter
- NUP155 p.Ser1236Asn Uncertain significance Single submitter
- NUP155 p.Ser187Thr Uncertain significance Single submitter
- NUP155 p.Ser840Phe Uncertain significance Single submitter
- NUP155 p.Thr1129Asn Uncertain significance Single submitter
- NUP155 p.Thr1258Ala Uncertain significance Single submitter
- NUP155 p.Thr386Lys Uncertain significance Single submitter
- NUP155 p.Thr386Met Uncertain significance Single submitter
- NUP155 p.Thr448Ile Uncertain significance Single submitter
- NUP155 p.Thr56Ser Uncertain significance Single submitter
- NUP155 p.Trp432Arg Uncertain significance Single submitter
- NUP155 p.Trp432Cys Uncertain significance Single submitter
- NUP155 p.Tyr1117Ser Uncertain significance Single submitter
- NUP155 p.Tyr904Cys Uncertain significance Single submitter
- NUP155 p.Tyr926Cys Uncertain significance Single submitter
- NUP155 p.Val1046Leu Uncertain significance Single submitter
- NUP155 p.Val1171Ile Uncertain significance Single submitter
- NUP155 p.Val1268Ile Uncertain significance Single submitter
- NUP155 p.Val315Ile Uncertain significance Single submitter
- NUP155 p.Val361Ile Uncertain significance Single submitter
-
NUP155 p.Val402Met
Uncertain significance
Single submitter
atrial fibrillation, familial, 15
- NUP155 p.Val488Ala Uncertain significance Single submitter
- NUP155 p.Val57Ile Uncertain significance Single submitter
- NUP155 p.Val710Met Uncertain significance Single submitter
- NUP155 p.Val807Met Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
- NUP155 p.Arg336Gly Uncertain significance Multiple submitters
- NUP155 p.Ala146Thr Uncertain significance Single submitter
- NUP155 p.Ala398Val Uncertain significance Single submitter
- NUP155 p.Arg1096Cys Uncertain significance Single submitter
- NUP155 p.Arg1260Cys Uncertain significance Single submitter
- NUP155 p.Arg252Ser Uncertain significance Single submitter
- NUP155 p.Arg672Gln Uncertain significance Single submitter
- NUP155 p.Asn1279Tyr Uncertain significance Single submitter
- NUP155 p.Asp1179Gly Uncertain significance Single submitter
- NUP155 p.Asp825Val Uncertain significance Single submitter
- NUP155 p.Cys356Tyr Uncertain significance Single submitter
- NUP155 p.Glu1116Gln Uncertain significance Single submitter
- NUP155 p.Glu1139Gly Uncertain significance Single submitter
- NUP155 p.Glu579Lys Uncertain significance Single submitter
- NUP155 p.Glu927Lys Uncertain significance Single submitter
- NUP155 p.Gly1190Arg Uncertain significance Single submitter
- NUP155 p.Gly716Arg Uncertain significance Single submitter
- NUP155 p.His542Gln Uncertain significance Single submitter
- NUP155 p.His801Arg Uncertain significance Single submitter
- NUP155 p.Ile1153Thr Uncertain significance Single submitter
- NUP155 p.Ile1206Ser Uncertain significance Single submitter
- NUP155 p.Ile1267Thr Uncertain significance Single submitter
- NUP155 p.Ile838Thr Uncertain significance Single submitter
- NUP155 p.Leu1306Phe Uncertain significance Single submitter
- NUP155 p.Leu387Pro Uncertain significance Single submitter
- NUP155 p.Leu502His Uncertain significance Single submitter
- NUP155 p.Leu841Phe Uncertain significance Single submitter
- NUP155 p.Lys297Asn Uncertain significance Single submitter
- NUP155 p.Lys997Glu Uncertain significance Single submitter
- NUP155 p.Met1078Val Uncertain significance Single submitter
- NUP155 p.Met1289Val Uncertain significance Single submitter
- NUP155 p.Met445Ile Uncertain significance Single submitter
- NUP155 p.Phe1059Leu Uncertain significance Single submitter
- NUP155 p.Phe1192Leu Uncertain significance Single submitter
- NUP155 p.Phe1196Leu Uncertain significance Single submitter
- NUP155 p.Phe1262Ser Uncertain significance Single submitter
- NUP155 p.Phe574Leu Uncertain significance Single submitter
- NUP155 p.Pro444Thr Uncertain significance Single submitter
- NUP155 p.Pro655Arg Uncertain significance Single submitter
- NUP155 p.Ser15Phe Likely benign Single submitter
- NUP155 p.Ser605Arg Uncertain significance Single submitter
- NUP155 p.Ser868Asn Uncertain significance Single submitter
- NUP155 p.Ser884Cys Uncertain significance Single submitter
- NUP155 p.Tyr1040Cys Uncertain significance Single submitter
- NUP155 p.Tyr926His Uncertain significance Single submitter
All NUP155 variants
Pathogenic 1
- p.Arg391His No assertion criteria atrial fibrillation, familial, 15
Conflicting classifications of pathogenicity 1
- p.His542Tyr Single submitter ⚠
Benign 53
- c.1094-8A>G Multiple submitters
- c.1518+40G>A Multiple submitters
- c.1519-140G>A Multiple submitters
- c.1519-88C>A Multiple submitters
- c.1630-105T>C Multiple submitters
- c.2091+63A>G Multiple submitters
- c.2091+84T>G Multiple submitters
- c.2092-116G>T Multiple submitters
- c.2208-108C>A Multiple submitters
- c.2629-5_2629-3del Multiple submitters
- c.2903+10A>G Multiple submitters
- c.3162+14T>C Multiple submitters
- c.3561+87A>G Multiple submitters
- c.3562-124T>G Multiple submitters
- c.3793+89A>G Multiple submitters
- c.3930+35C>A Multiple submitters
- c.3931-128T>C Multiple submitters
- c.4038-99C>T Multiple submitters
- c.556+10C>T Multiple submitters
- c.723+124A>G Multiple submitters
- c.724-23G>T Multiple submitters
- c.724-60G>A Multiple submitters
- c.*19A>G Multiple submitters
- p.Ala452= Multiple submitters
- p.Ala839= Multiple submitters
- p.Gly1252= Multiple submitters
- p.Leu1296= Multiple submitters
- p.Leu67= Multiple submitters atrial fibrillation, familial, 15
- p.Ser1238= Multiple submitters
- c.1094-158G>A Single submitter
- c.1094-159C>T Single submitter
- c.1246+155G>T Single submitter
- c.158-207T>C Single submitter
- c.1629+124G>A Single submitter
- c.1814-153C>T Single submitter
- c.2091+192G>A Single submitter
- c.2208-187A>G Single submitter
- c.2436+223A>T Single submitter
- c.2629-7C>T Single submitter
- c.2767+127G>A Single submitter
- c.2903+215G>A Single submitter
- c.2903+84_2903+86dup Single submitter
- c.2903+84dup Single submitter
- c.2904-181del Single submitter
- c.4038-181_4038-180del Single submitter
- c.4038-227G>C Single submitter
- c.464-57_464-54del Single submitter
- c.829+105_829+109del Single submitter
- c.903+101dup Single submitter
- c.903+113del Single submitter
- c.995+6_995+7del Single submitter
- c.996-54del Single submitter
- p.Ser1369= Single submitter
Benign/Likely benign 6
- c.830-14del Multiple submitters
- c.830-25dup Multiple submitters
- p.Ala643= Multiple submitters
- p.Gln802= Multiple submitters
- p.Gly7= Multiple submitters
- p.Leu541= Multiple submitters
Likely benign 51
- c.393-8_393-7del Multiple submitters
- p.Pro497= Multiple submitters
- c.1246+5G>C Single submitter
- c.1347+20C>T Single submitter
- c.1724+11G>A Single submitter
- c.1724+20G>A Single submitter
- c.1877-5A>G Single submitter
- c.2436+12dup Single submitter
- c.3562-16G>A Single submitter
- c.3682+18G>A Single submitter
- c.4038-7G>A Single submitter
- c.4038-8C>T Single submitter
- c.463+20G>A Single submitter
- c.557-10T>C Single submitter
- c.557-20A>G Single submitter
- c.830-15_830-14del Single submitter
- c.830-16_830-14del Single submitter
- c.996-17T>C Single submitter
- c.996-19A>T Single submitter
- p.Ala463= Single submitter
- p.Ala988= Single submitter
- p.Ala9Val Single submitter
- p.Arg225= Single submitter
- p.Arg786Gln Single submitter
- p.Arg883His Single submitter
- p.Asn1093Ser Single submitter
- p.Asn383= Single submitter
- p.Asn753= Single submitter
- p.Asn915Ser Single submitter
- p.Cys551= Single submitter
- p.Gln760= Single submitter
- p.Glu275= Single submitter
- p.Gly626= Single submitter
- p.Ile873Val Single submitter
- p.Leu1011= Single submitter
- p.Leu1354= Single submitter
- p.Leu523= Single submitter
- p.Leu866= Single submitter
- p.Lys443= Single submitter
- p.Phe375= Single submitter
- p.Pro1062= Single submitter
- p.Pro1338= Single submitter
- p.Pro204= Single submitter
- p.Pro589= Single submitter
- p.Pro993= Single submitter
- p.Ser15Phe Single submitter ⚠
- p.Val1055= Single submitter
- p.Val658= Single submitter
- c.2768-5A>G No assertion criteria NUP155-related disorder
- p.Ala1256= No assertion criteria NUP155-related disorder
- p.Val1046= No assertion criteria NUP155-related disorder
Uncertain significance 186
- p.Arg1096His Multiple submitters ⚠
- p.Arg1260His Multiple submitters ⚠
- p.Arg336Gly Multiple submitters ⚠
- p.Gln543Glu Multiple submitters ⚠
- p.Gly944Cys Multiple submitters ⚠
- p.Met450Val Multiple submitters atrial fibrillation, familial, 15 ⚠
- p.Thr653Ser Multiple submitters ⚠
- p.Val1294Ile Multiple submitters ⚠
- c.3163-10T>A Single submitter
- p.Ala115Gly Single submitter ⚠
- p.Ala146Thr Single submitter ⚠
- p.Ala316Gly Single submitter ⚠
- p.Ala398Val Single submitter ⚠
- p.Ala463Thr Single submitter ⚠
- p.Ala463Val Single submitter ⚠
- p.Ala638Thr Single submitter ⚠
- p.Ala808Ser Single submitter ⚠
- p.Ala851Gly Single submitter ⚠
- p.Ala851Pro Single submitter
- p.Ala964Ser Single submitter ⚠
- p.Arg1076Cys Single submitter atrial fibrillation, familial, 15 ⚠
- p.Arg1076His Single submitter ⚠
- p.Arg1083Gln Single submitter ⚠
- p.Arg1083Trp Single submitter atrial fibrillation, familial, 15 ⚠
- p.Arg1096Cys Single submitter ⚠
- p.Arg1152Lys Single submitter
- p.Arg1260Cys Single submitter ⚠
- p.Arg1310Gln Single submitter ⚠
- p.Arg1333Gly Single submitter ⚠
- p.Arg1389Trp Single submitter
- p.Arg252Ser Single submitter ⚠
- p.Arg288Gly Single submitter ⚠
- p.Arg28Gln Single submitter ⚠
- p.Arg28Gly Single submitter
- p.Arg294Gln Single submitter
- p.Arg410Gly Single submitter ⚠
- p.Arg571Gln Single submitter
- p.Arg672Gln Single submitter ⚠
- p.Arg750Cys Single submitter ⚠
- p.Asn1093Lys Single submitter ⚠
- p.Asn1279Tyr Single submitter ⚠
- p.Asn1351Asp Single submitter
- p.Asn191Lys Single submitter
- p.Asn223Lys Single submitter ⚠
- p.Asn425Thr Single submitter ⚠
- p.Asn435Ser Single submitter atrial fibrillation, familial, 15 ⚠
- p.Asn889His Single submitter ⚠
- p.Asp1173Val Single submitter ⚠
- p.Asp1179Gly Single submitter ⚠
- p.Asp1265Glu Single submitter ⚠
- p.Asp276Glu Single submitter ⚠
- p.Asp455Asn Single submitter ⚠
- p.Asp531Asn Single submitter ⚠
- p.Asp825Val Single submitter ⚠
- p.Asp861Gly Single submitter ⚠
- p.Cys1344Tyr Single submitter ⚠
- p.Cys356Tyr Single submitter ⚠
- p.Cys651Phe Single submitter ⚠
- p.Gln1156His Single submitter
- p.Gln1164Pro Single submitter
- p.Gln20Arg Single submitter ⚠
- p.Gln320Glu Single submitter ⚠
- p.Gln442Arg Single submitter ⚠
- p.Gln726Arg Single submitter ⚠
- p.Gln760Glu Single submitter ⚠
- p.Gln783Pro Single submitter ⚠
- p.Gln910Glu Single submitter ⚠
- p.Glu1086Lys Single submitter ⚠
- p.Glu1108Gly Single submitter ⚠
- p.Glu1116Gln Single submitter ⚠
- p.Glu1139Gly Single submitter ⚠
- p.Glu579Lys Single submitter ⚠
- p.Glu719Gln Single submitter ⚠
- p.Glu903Ala Single submitter ⚠
- p.Glu927Lys Single submitter ⚠
- p.Glu956Gln Single submitter ⚠
- p.Gly1190Arg Single submitter ⚠
- p.Gly1359Ser Single submitter ⚠
- p.Gly186Asp Single submitter ⚠
- p.Gly188Val Single submitter ⚠
- p.Gly626Val Single submitter ⚠
- p.Gly716Arg Single submitter ⚠
- p.His1328Arg Single submitter ⚠
- p.His1328Leu Single submitter ⚠
- p.His363Arg Single submitter ⚠
- p.His480Arg Single submitter ⚠
- p.His542Gln Single submitter ⚠
- p.His663Arg Single submitter ⚠
- p.His801Arg Single submitter ⚠
- p.Ile1044Leu Single submitter ⚠
- p.Ile1044Met Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile1131Met Single submitter ⚠
- p.Ile1131Val Single submitter ⚠
- p.Ile1153Thr Single submitter ⚠
- p.Ile1206Ser Single submitter ⚠
- p.Ile1248Ser Single submitter ⚠
- p.Ile1267Thr Single submitter ⚠
- p.Ile1376Met Single submitter ⚠
- p.Ile1376Val Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile254Lys Single submitter ⚠
- p.Ile254Val Single submitter ⚠
- p.Ile30Val Single submitter ⚠
- p.Ile323Val Single submitter ⚠
- p.Ile348Met Single submitter ⚠
- p.Ile698Thr Single submitter ⚠
- p.Ile806del Single submitter
- p.Ile838Thr Single submitter ⚠
- p.Leu1141Pro Single submitter ⚠
- p.Leu1306Phe Single submitter ⚠
- p.Leu194Phe Single submitter ⚠
- p.Leu269Ile Single submitter ⚠
- p.Leu385Pro Single submitter ⚠
- p.Leu385Val Single submitter ⚠
- p.Leu387Pro Single submitter ⚠
- p.Leu502His Single submitter ⚠
- p.Leu639Arg Single submitter ⚠
- p.Leu841Phe Single submitter ⚠
- p.Leu859Ser Single submitter ⚠
- p.Leu969Ile Single submitter ⚠
- p.Lys1126Arg Single submitter ⚠
- p.Lys1147Glu Single submitter ⚠
- p.Lys297Asn Single submitter ⚠
- p.Lys766Arg Single submitter ⚠
- p.Lys890Arg Single submitter ⚠
- p.Lys890Asn Single submitter ⚠
- p.Lys902Thr Single submitter ⚠
- p.Lys939Glu Single submitter
- p.Lys997Glu Single submitter ⚠
- p.Met1078Val Single submitter ⚠
- p.Met1289Val Single submitter ⚠
- p.Met1317Lys Single submitter ⚠
- p.Met198Val Single submitter ⚠
- p.Met445Ile Single submitter ⚠
- p.Met494Thr Single submitter ⚠
- p.Met63Thr Single submitter
- p.Phe1059Leu Single submitter ⚠
- p.Phe1192Leu Single submitter ⚠
- p.Phe1196Leu Single submitter ⚠
- p.Phe1262Ser Single submitter ⚠
- p.Phe1349Cys Single submitter ⚠
- p.Phe574Leu Single submitter ⚠
- p.Phe727Ile Single submitter ⚠
- p.Phe823Cys Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro1214Leu Single submitter ⚠
- p.Pro1297Ser Single submitter ⚠
- p.Pro444Thr Single submitter ⚠
- p.Pro589Gln Single submitter ⚠
- p.Pro589Leu Single submitter ⚠
- p.Pro590Leu Single submitter ⚠
- p.Pro630Ser Single submitter ⚠
- p.Pro655Arg Single submitter ⚠
- p.Pro735Ser Single submitter ⚠
- p.Ser1236Asn Single submitter ⚠
- p.Ser187Thr Single submitter ⚠
- p.Ser605Arg Single submitter ⚠
- p.Ser840Phe Single submitter ⚠
- p.Ser868Asn Single submitter ⚠
- p.Ser884Cys Single submitter ⚠
- p.Thr1129Asn Single submitter ⚠
- p.Thr1219Ile Single submitter
- p.Thr1258Ala Single submitter ⚠
- p.Thr386Lys Single submitter ⚠
- p.Thr386Met Single submitter ⚠
- p.Thr448Ile Single submitter ⚠
- p.Thr56Ser Single submitter ⚠
- p.Trp432Arg Single submitter ⚠
- p.Trp432Cys Single submitter ⚠
- p.Tyr1040Cys Single submitter ⚠
- p.Tyr1117Ser Single submitter ⚠
- p.Tyr904Cys Single submitter ⚠
- p.Tyr926Cys Single submitter ⚠
- p.Tyr926His Single submitter ⚠
- p.Val1046Leu Single submitter ⚠
- p.Val1171Ile Single submitter ⚠
- p.Val1268Ile Single submitter ⚠
- p.Val315Ile Single submitter ⚠
- p.Val361Ile Single submitter ⚠
- p.Val402Met Single submitter atrial fibrillation, familial, 15 ⚠
- p.Val488Ala Single submitter ⚠
- p.Val57Ile Single submitter ⚠
- p.Val710Met Single submitter ⚠
- p.Val807Met Single submitter ⚠
- c.157+156_157+167del No assertion criteria premature menopause