PLG — 599 ClinVar variants
All ClinVar germline PLG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 278 flagged for review →
15 Pathogenic · 1 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 15 Conflicting · 65 Benign · 13 Benign/Likely benign · 166 Likely benign · 310 Uncertain significance
Full PLG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 278
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PLG p.Lys330Glu
Pathogenic
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Lys38Glu
Pathogenic/Likely pathogenic
Multiple submitters
Thrombophilia with a likely monogenic cause
-
PLG p.Val374Phe
Pathogenic
No assertion criteria
dysplasminogenemia
-
PLG p.Val728Glu
Pathogenic
No assertion criteria
angioedema, hereditary, 4
Predictors agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- PLG p.Arg242Gln Conflicting Single submitter
-
PLG p.Arg261His
Conflicting
Single submitter
hypoplasminogenemia
-
PLG p.Arg331Thr
Conflicting
Single submitter
angioedema, hereditary, 4
-
PLG p.Arg445Ser
Conflicting
Single submitter
hypoplasminogenemia
-
PLG p.Arg490Gln
Conflicting
Single submitter
Thrombus
-
PLG p.Gln720Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PLG p.Gly420Asp
Conflicting
Single submitter
hypoplasminogenemia
-
PLG p.Ile682Asn
Conflicting
Single submitter
Deep venous thrombosis
-
PLG p.Thr105Ala
Conflicting
Single submitter
angioedema, hereditary, 4
- PLG p.Thr500Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 211
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 211
-
PLG p.Ala216Thr
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Ala459Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Ala494Glu
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Ala507Val
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Ala675Val
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Ala77Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Arg253Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Arg343Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Arg445Met
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Arg731His
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Arg89Thr
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Asn286Ser
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Asn690Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Asp156Asn
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Asp177Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Asp249Asn
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Asp472Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Asp695Glu
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Gln29Pro
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Gln341His
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Glu145Asp
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Glu180Lys
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Glu369Asp
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Glu478Asp
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Glu478Lys
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Glu54Lys
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Glu768Gln
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Gly106Ala
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Gly218Val
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Gly395Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Gly456Arg
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Gly579Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Gly712Arg
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Gly751Arg
Uncertain significance
Multiple submitters
PLG-related disorder
- PLG p.Gly805Glu Uncertain significance Multiple submitters
- PLG p.His133Gln Uncertain significance Multiple submitters
-
PLG p.Ile666Thr
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Lys39Gln
Uncertain significance
Multiple submitters
hypoplasminogenemia
- PLG p.Lys97Gln Uncertain significance Multiple submitters
-
PLG p.Met482Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Pro159Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Pro169Thr
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Pro265Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Pro465Leu
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Pro466Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Ser443Arg
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
- PLG p.Thr114Met Uncertain significance Multiple submitters
-
PLG p.Thr123Ile
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Thr200Ala
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Thr272Ala
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Thr295Ile
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Tyr165His
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Tyr283Cys
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Tyr732His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Tyr99Phe
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Val462Ala
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Val462Glu
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Val582Ala
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Val586Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Val596Gly
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
- PLG p.Val676Ile Uncertain significance Multiple submitters
-
PLG p.Val6Ala
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Val6Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Ala208Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Ala288Ser Uncertain significance Single submitter
- PLG p.Ala431Thr Uncertain significance Single submitter
- PLG p.Ala459Gly Uncertain significance Single submitter
-
PLG p.Ala494Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Ala506Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Ala507Ser Uncertain significance Single submitter
- PLG p.Ala524Glu Uncertain significance Single submitter
- PLG p.Ala524Thr Uncertain significance Single submitter
- PLG p.Ala524Val Uncertain significance Single submitter
-
PLG p.Ala63Ser
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Ala713Thr Uncertain significance Single submitter
- PLG p.Ala719Thr Uncertain significance Single submitter
- PLG p.Arg134Gly Uncertain significance Single submitter
- PLG p.Arg235Cys Uncertain significance Single submitter
- PLG p.Arg239Ser Uncertain significance Single submitter
-
PLG p.Arg239Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Arg284Cys Uncertain significance Single submitter
- PLG p.Arg325Cys Uncertain significance Single submitter
-
PLG p.Arg325Leu
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Arg331Gly Uncertain significance Single submitter
- PLG p.Arg408Gln Uncertain significance Single submitter
-
PLG p.Arg523Gln
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Arg532His Uncertain significance Single submitter
- PLG p.Arg580Ser Uncertain significance Single submitter
-
PLG p.Arg696Gly
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Arg696Trp Uncertain significance Single submitter
-
PLG p.Arg786His
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Arg786Ser Uncertain significance Single submitter
- PLG p.Arg795His Uncertain significance Single submitter
-
PLG p.Arg80Lys
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Asn226Ile
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Asn251His
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Asn286Thr Uncertain significance Single submitter
- PLG p.Asn313Asp Uncertain significance Single submitter
- PLG p.Asn788Tyr Uncertain significance Single submitter
- PLG p.Asp158Asn Uncertain significance Single submitter
- PLG p.Asp210Glu Uncertain significance Single submitter
- PLG p.Cys185Tyr Uncertain significance Single submitter
- PLG p.Cys377Tyr Uncertain significance Single submitter
-
PLG p.Cys481Tyr
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Cys543Arg Uncertain significance Single submitter
-
PLG p.Cys555Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Gln375Arg Uncertain significance Single submitter
- PLG p.Gln40Lys Uncertain significance Single submitter
-
PLG p.Gln410Arg
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Gln410Lys Uncertain significance Single submitter
-
PLG p.Gln650Leu
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Gln708Glu Uncertain significance Single submitter
- PLG p.Glu149Asp Uncertain significance Single submitter
-
PLG p.Glu180Ala
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Glu183Gln Uncertain significance Single submitter
-
PLG p.Glu20Ala
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Glu360Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Glu47Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Glu55Gly Uncertain significance Single submitter
- PLG p.Glu55Lys Uncertain significance Single submitter
- PLG p.Glu5Lys Uncertain significance Single submitter
-
PLG p.Glu698Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Glu743Lys
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Gly106Trp Uncertain significance Single submitter
- PLG p.Gly108Val Uncertain significance Single submitter
- PLG p.Gly146Val Uncertain significance Single submitter
- PLG p.Gly17Val Uncertain significance Single submitter
- PLG p.Gly195Ser Uncertain significance Single submitter
- PLG p.Gly19Ala Uncertain significance Single submitter
-
PLG p.Gly278Ala
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Gly44Arg
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Gly583Glu Uncertain significance Single submitter
-
PLG p.Gly638Ser
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Gly776Arg
Uncertain significance
Single submitter
hypoplasminogenemia
-
PLG p.Gly805Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.His187Leu Uncertain significance Single submitter
-
PLG p.His307Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.His511Gln Uncertain significance Single submitter
- PLG p.His588Arg Uncertain significance Single submitter
-
PLG p.Ile46Thr
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Ile652Arg
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Ile677Met Uncertain significance Single submitter
-
PLG p.Ile677Thr
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Ile75Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Leu10Phe
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Leu14Val Uncertain significance Single submitter
-
PLG p.Leu33Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Leu33Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Leu659Phe Uncertain significance Single submitter
-
PLG p.Leu669Val
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 53
The independent predictors disagree with each other — read with care.
-
PLG p.Ala494Val
Benign/Likely benign
Multiple submitters
otitis media, susceptibility to
-
PLG p.Arg172Gly
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Arg261Cys
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Arg386Gln
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Arg656Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Arg786Cys
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Asp156Glu
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Asp430Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Glu191Gly
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
- PLG p.Gly583Ala Uncertain significance Multiple submitters
-
PLG p.Gly783Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Lys119Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Met404Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Met807Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Pro221Leu
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Pro225Arg
Uncertain significance
Multiple submitters
hypoplasminogenemia
-
PLG p.Pro250Leu
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Pro522Ser
Uncertain significance
Multiple submitters
hypoplasminogenemia
- PLG p.Pro647Leu Uncertain significance Multiple submitters
-
PLG p.Thr248Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Thr517Ile
Uncertain significance
Multiple submitters
angioedema, hereditary, 4
-
PLG p.Thr546Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLG p.Val806Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PLG p.Ala43Gly Uncertain significance Single submitter
- PLG p.Arg242Trp Uncertain significance Single submitter
-
PLG p.Arg253His
Conflicting
Single submitter
angioedema, hereditary, 4
- PLG p.Arg343Trp Uncertain significance Single submitter
-
PLG p.Arg549Ile
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Asp174Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Asp249Glu
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Asp249Tyr Uncertain significance Single submitter
-
PLG p.Asp328Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Asp432His Uncertain significance Single submitter
-
PLG p.Gly329Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Gly525Ser
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Gly752Asp Uncertain significance Single submitter
- PLG p.His142Gln Uncertain significance Single submitter
- PLG p.His215Gln Uncertain significance Single submitter
- PLG p.Lys396Asn Uncertain significance Single submitter
-
PLG p.Lys575Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Phe711Leu Uncertain significance Single submitter
-
PLG p.Pro139Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Pro143Arg Uncertain significance Single submitter
- PLG p.Pro143Ser Uncertain significance Single submitter
-
PLG p.Pro260Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLG p.Pro315Leu
Uncertain significance
Single submitter
angioedema, hereditary, 4
-
PLG p.Ser202Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PLG p.Thr141Ile Uncertain significance Single submitter
- PLG p.Thr394Ala Uncertain significance Single submitter
- PLG p.Thr412Ala Uncertain significance Single submitter
- PLG p.Thr546Ile Uncertain significance Single submitter
-
PLG p.Thr707Ile
Uncertain significance
Single submitter
angioedema, hereditary, 4
- PLG p.Thr778Ile Uncertain significance Single submitter
All PLG variants
Pathogenic 15
- p.Lys330Glu Multiple submitters angioedema, hereditary, 4 ⚠
- c.185+1G>T Single submitter
- p.Arg490Ter Single submitter
- p.Cys176Ter Single submitter
- p.Cys206Ter Single submitter
- p.Cys585Ter Single submitter
- p.Gln559Ter Single submitter
- p.Trp244Ter Single submitter
- c.2125+1del No assertion criteria hypoplasminogenemia
- p.Arg235His No assertion criteria hypoplasminogenemia
- p.Cys296Gly No assertion criteria hypoplasminogenemia
- p.Glu479Ter No assertion criteria hypoplasminogenemia
- p.Ser591Pro No assertion criteria dysplasminogenemia
- p.Val374Phe No assertion criteria dysplasminogenemia ⚠
- p.Val728Glu No assertion criteria angioedema, hereditary, 4 ⚠
Pathogenic/Likely pathogenic 1
- p.Lys38Glu Multiple submitters Thrombophilia with a likely monogenic cause ⚠
Likely pathogenic 14
- c.1097-1G>A Single submitter
- c.1256+1G>A Single submitter
- c.1588-1G>C Single submitter
- c.2019-1G>A Single submitter hypoplasminogenemia
- c.292+1G>C Single submitter angioedema, hereditary, 4
- c.293-2A>G Single submitter
- p.Arg663Ter Single submitter angioedema, hereditary, 4
- p.Asn226fs Single submitter hypoplasminogenemia
- p.Asp665Val Single submitter hypoplasminogenemia
- p.Cys316Ter Single submitter angioedema, hereditary, 4
- p.Glu191Ter Single submitter PLG-related disorder
- p.Glu255fs Single submitter
- p.Met423fs Single submitter PLG-related disorder
- p.Pro304Ala Single submitter angioedema, hereditary, 4
Conflicting classifications of pathogenicity 15
- c.185+14C>A Single submitter angioedema, hereditary, 4
- c.1878-6T>C Single submitter Deep venous thrombosis
- p.Arg242Gln Single submitter ⚠
- p.Arg253His Single submitter angioedema, hereditary, 4 ⚠
- p.Arg261His Single submitter hypoplasminogenemia ⚠
- p.Arg331Thr Single submitter angioedema, hereditary, 4 ⚠
- p.Arg445Ser Single submitter hypoplasminogenemia ⚠
- p.Arg490Gln Single submitter Thrombus ⚠
- p.Gln720Arg Single submitter Inborn genetic diseases ⚠
- p.Glu768Lys Single submitter Inborn genetic diseases
- p.Gly420Asp Single submitter hypoplasminogenemia ⚠
- p.Gly486= Single submitter angioedema, hereditary, 4
- p.Ile682Asn Single submitter Deep venous thrombosis ⚠
- p.Thr105Ala Single submitter angioedema, hereditary, 4 ⚠
- p.Thr500Met Single submitter ⚠
Benign 65
- c.1256+9T>C Multiple submitters
- c.1438+30A>G Multiple submitters
- c.1878-17G>A Multiple submitters angioedema, hereditary, 4
- c.49+28G>T Multiple submitters
- c.669-14T>G Multiple submitters
- c.950+14G>A Multiple submitters angioedema, hereditary, 4
- c.*45A>G Multiple submitters angioedema, hereditary, 4
- p.Ala694= Multiple submitters
- p.Arg89Lys Multiple submitters
- p.Asn110= Multiple submitters angioedema, hereditary, 4
- p.Asp472Asn Multiple submitters otitis media, susceptibility to
- p.Cys257= Multiple submitters hypoplasminogenemia
- p.Gln361= Multiple submitters
- p.Gly762= Multiple submitters angioedema, hereditary, 4
- p.Phe314= Multiple submitters angioedema, hereditary, 4
- p.Ser460Arg Multiple submitters angioedema, hereditary, 4
- p.Thr753= Multiple submitters
- c.1097-14del Single submitter
- c.1097-207A>C Single submitter
- c.1097-250T>C Single submitter
- c.1097-64A>G Single submitter
- c.1256+35A>G Single submitter
- c.1257-115T>C Single submitter
- c.1438+185G>A Single submitter
- c.1439-11dup Single submitter
- c.1587+155A>C Single submitter
- c.1588-149G>A Single submitter
- c.1588-3C>T Single submitter
- c.1588-4del Single submitter
- c.1588-72C>T Single submitter
- c.185+4T>C Single submitter
- c.186-115G>A Single submitter
- c.2018+265T>C Single submitter
- c.2018+301G>A Single submitter
- c.2126-205C>G Single submitter
- c.2126-55C>G Single submitter
- c.2271+318A>G Single submitter
- c.292+107T>C Single submitter
- c.292+109G>A Single submitter
- c.292+129G>A Single submitter
- c.292+175G>A Single submitter
- c.292+49A>G Single submitter
- c.292+84A>G Single submitter
- c.293-291C>T Single submitter
- c.407+194T>G Single submitter
- c.408-333A>G Single submitter
- c.49+18dup Single submitter
- c.49+66T>C Single submitter
- c.50-314G>A Single submitter
- c.547+116C>G Single submitter
- c.547+147_547+148insTT Single submitter
- c.547+159_547+160dup Single submitter
- c.547+160dup Single submitter
- c.548-118A>G Single submitter
- c.548-320_548-319insA Single submitter
- c.668+112T>A Single submitter
- c.669-154T>A Single submitter
- c.669-159T>C Single submitter
- c.787+195G>A Single submitter
- c.788-268C>T Single submitter
- c.-35G>A Single submitter
- c.*289del Single submitter
- p.Arg408Trp Single submitter
- p.Glu57Lys Single submitter
- p.Pro465= Single submitter
Benign/Likely benign 13
- c.1587+16T>C Multiple submitters
- c.2019-16G>A Multiple submitters
- c.2125+13C>A Multiple submitters
- c.50-16G>A Multiple submitters
- c.950+10C>T Multiple submitters
- p.Ala494Val Multiple submitters otitis media, susceptibility to ⚠
- p.Arg153= Multiple submitters
- p.Arg427= Multiple submitters hypoplasminogenemia
- p.Arg523Trp Multiple submitters hypoplasminogenemia
- p.Asp194= Multiple submitters
- p.Asp194Val Multiple submitters
- p.Leu618= Multiple submitters
- p.Ser477= Multiple submitters hypoplasminogenemia
Likely benign 166
- c.1096+14del Multiple submitters
- c.1802+20C>T Multiple submitters
- c.185+13T>A Multiple submitters
- c.185+15G>A Multiple submitters
- c.186-9G>A Multiple submitters
- c.2018+8T>C Multiple submitters
- c.408-4C>T Multiple submitters
- c.49+18T>C Multiple submitters
- c.950+16T>C Multiple submitters
- p.Ala675= Multiple submitters
- p.Arg490= Multiple submitters angioedema, hereditary, 4
- p.Arg696Gln Multiple submitters hypoplasminogenemia
- p.Asp56= Multiple submitters
- p.Cys176= Multiple submitters
- p.Glu478= Multiple submitters
- p.Glu653= Multiple submitters
- p.Gly161= Multiple submitters
- p.His142= Multiple submitters
- p.Ile220= Multiple submitters
- p.Leu12= Multiple submitters angioedema, hereditary, 4
- p.Lys4= Multiple submitters Inborn genetic diseases
- p.Phe767= Multiple submitters
- p.Pro271= Multiple submitters
- p.Pro574= Multiple submitters hypoplasminogenemia
- p.Pro647= Multiple submitters
- p.Thr500= Multiple submitters
- p.Val342Met Multiple submitters
- p.Val357= Multiple submitters
- p.Val654= Multiple submitters angioedema, hereditary, 4
- c.1096+11G>C Single submitter
- c.1096+8A>G Single submitter
- c.1097-18C>G Single submitter
- c.1256+19C>T Single submitter
- c.1438+12G>T Single submitter
- c.1438+9T>C Single submitter
- c.1439-13T>C Single submitter
- c.1439-19C>A Single submitter
- c.1588-15C>G Single submitter
- c.1588-4T>G Single submitter
- c.1681+14T>C Single submitter
- c.1682-10T>C Single submitter
- c.1682-13C>T Single submitter
- c.185+14C>T Single submitter
- c.185+16T>C Single submitter
- c.1877+17A>G Single submitter
- c.1878-18C>T Single submitter
- c.2018+7G>A Single submitter
- c.2019-17T>C Single submitter
- c.2019-19G>A Single submitter
- c.2125+17T>G Single submitter
- c.2125+7del Single submitter
- c.2126-12T>C Single submitter
- c.2272-12C>A Single submitter
- c.2272-15T>C Single submitter
- c.2272-4A>T Single submitter
- c.2272-6G>A Single submitter
- c.2272-7T>C Single submitter
- c.292+16T>C Single submitter
- c.292+16TCC[5] Single submitter
- c.292+17C>T Single submitter
- c.292+18C>T Single submitter
- c.292+19T>G Single submitter
- c.408-11A>T Single submitter
- c.408-18C>T Single submitter
- c.49+11G>A Single submitter
- c.49+15T>A Single submitter
- c.49+18T>A Single submitter
- c.49+19A>T Single submitter
- c.49+7C>G Single submitter
- c.50-10C>A Single submitter
- c.50-15A>C Single submitter
- c.50-19T>C Single submitter
- c.547+12T>C Single submitter
- c.547+16A>G Single submitter
- c.548-11A>C Single submitter
- c.548-17del Single submitter
- c.548-8C>T Single submitter
- c.668+10A>C Single submitter
- c.668+15G>A Single submitter
- c.668+16A>G Single submitter
- c.668+20A>C Single submitter
- c.787+11T>G Single submitter
- c.787+12G>A Single submitter
- c.787+8T>C Single submitter
- c.788-11G>C Single submitter
- c.951-14C>A Single submitter
- c.951-18_951-17del Single submitter
- p.Ala208= Single submitter
- p.Ala366= Single submitter
- p.Ala431= Single submitter
- p.Ala459= Single submitter
- p.Ala494= Single submitter
- p.Ala524= Single submitter
- p.Ala561= Single submitter
- p.Ala562= Single submitter
- p.Ala750= Single submitter
- p.Arg284= Single submitter
- p.Arg532= Single submitter
- p.Arg663= Single submitter
- p.Arg696= Single submitter
- p.Asn157= Single submitter
- p.Asn228= Single submitter
- p.Asn286Asp Single submitter Inborn genetic diseases
- p.Asn418= Single submitter
- p.Asp328= Single submitter
- p.Asp770= Single submitter
- p.Cys181= Single submitter
- p.Cys234= Single submitter
- p.Cys555= Single submitter
- p.Glu102= Single submitter
- p.Glu519= Single submitter
- p.Glu55= Single submitter
- p.Glu625= Single submitter
- p.Glu698= Single submitter
- p.Glu768= Single submitter
- p.Gly106= Single submitter
- p.Gly280= Single submitter
- p.Gly285= Single submitter
- p.Gly293= Single submitter
- p.Gly638= Single submitter
- p.Gly714= Single submitter
- p.Ile701= Single submitter
- p.Leu14= Single submitter
- p.Leu179= Single submitter
- p.Leu256= Single submitter
- p.Leu645= Single submitter
- p.Leu657= Single submitter
- p.Leu668= Single submitter
- p.Leu716= Single submitter
- p.Leu749= Single submitter
- p.Leu764= Single submitter
- p.Lys231Met Single submitter Inborn genetic diseases
- p.Lys252= Single submitter
- p.Lys317= Single submitter Inborn genetic diseases
- p.Lys492= Single submitter
- p.Lys727= Single submitter
- p.Pro135= Single submitter
- p.Pro139= Single submitter
- p.Pro155= Single submitter
- p.Pro159= Single submitter
- p.Pro237= Single submitter
- p.Pro311= Single submitter
- p.Pro333= Single submitter
- p.Pro674= Single submitter
- p.Ser292= Single submitter
- p.Ser300= Single submitter
- p.Ser400= Single submitter
- p.Ser779= Single submitter
- p.Thr114= Single submitter
- p.Thr248= Single submitter
- p.Thr28= Single submitter
- p.Thr290= Single submitter
- p.Thr439= Single submitter
- p.Thr457= Single submitter
- p.Thr545= Single submitter
- p.Thr697= Single submitter
- p.Thr742= Single submitter
- p.Tyr175= Single submitter
- p.Tyr448= Single submitter
- p.Tyr552= Single submitter
- p.Tyr732= Single submitter
- p.Val291Met Single submitter
- p.Val462= Single submitter
- c.1439-8C>A No assertion criteria PLG-related disorder
- c.*7G>A No assertion criteria PLG-related disorder
- p.Asp381= No assertion criteria PLG-related disorder
Uncertain significance 310
Showing the top 300 by review status; the full set is in the sitemap.
- c.2271+5G>A Multiple submitters
- c.669-3C>G Multiple submitters hypoplasminogenemia
- p.Ala216Thr Multiple submitters hypoplasminogenemia ⚠
- p.Ala459Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala494Glu Multiple submitters hypoplasminogenemia ⚠
- p.Ala507Val Multiple submitters angioedema, hereditary, 4 ⚠
- p.Ala675Val Multiple submitters hypoplasminogenemia ⚠
- p.Ala77Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg172Gly Multiple submitters hypoplasminogenemia ⚠
- p.Arg253Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg261Cys Multiple submitters angioedema, hereditary, 4 ⚠
- p.Arg343Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg386Gln Multiple submitters hypoplasminogenemia ⚠
- p.Arg445Met Multiple submitters hypoplasminogenemia ⚠
- p.Arg656Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg731His Multiple submitters hypoplasminogenemia ⚠
- p.Arg786Cys Multiple submitters angioedema, hereditary, 4 ⚠
- p.Arg89Thr Multiple submitters angioedema, hereditary, 4 ⚠
- p.Asn286Ser Multiple submitters hypoplasminogenemia ⚠
- p.Asn690Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp156Asn Multiple submitters angioedema, hereditary, 4 ⚠
- p.Asp156Glu Multiple submitters hypoplasminogenemia ⚠
- p.Asp177Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp249Asn Multiple submitters hypoplasminogenemia ⚠
- p.Asp430Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp472Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp553Asn Multiple submitters angioedema, hereditary, 4
- p.Asp695Glu Multiple submitters hypoplasminogenemia ⚠
- p.Gln29Pro Multiple submitters angioedema, hereditary, 4 ⚠
- p.Gln341His Multiple submitters hypoplasminogenemia ⚠
- p.Glu145Asp Multiple submitters hypoplasminogenemia ⚠
- p.Glu180Lys Multiple submitters angioedema, hereditary, 4 ⚠
- p.Glu191Gly Multiple submitters angioedema, hereditary, 4 ⚠
- p.Glu369Asp Multiple submitters angioedema, hereditary, 4 ⚠
- p.Glu478Asp Multiple submitters hypoplasminogenemia ⚠
- p.Glu478Lys Multiple submitters hypoplasminogenemia ⚠
- p.Glu54Lys Multiple submitters hypoplasminogenemia ⚠
- p.Glu768Gln Multiple submitters angioedema, hereditary, 4 ⚠
- p.Gly106Ala Multiple submitters hypoplasminogenemia ⚠
- p.Gly218Val Multiple submitters hypoplasminogenemia ⚠
- p.Gly395Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly456Arg Multiple submitters hypoplasminogenemia ⚠
- p.Gly579Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly583Ala Multiple submitters ⚠
- p.Gly712Arg Multiple submitters hypoplasminogenemia ⚠
- p.Gly751Arg Multiple submitters PLG-related disorder ⚠
- p.Gly783Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly805Glu Multiple submitters ⚠
- p.His133Gln Multiple submitters ⚠
- p.Ile666Thr Multiple submitters angioedema, hereditary, 4 ⚠
- p.Lys119Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys39Gln Multiple submitters hypoplasminogenemia ⚠
- p.Lys97Gln Multiple submitters ⚠
- p.Met404Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met482Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met807Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met88Ile Multiple submitters Inborn genetic diseases
- p.Pro139_Thr141del Multiple submitters
- p.Pro159Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro169Thr Multiple submitters hypoplasminogenemia ⚠
- p.Pro221Leu Multiple submitters hypoplasminogenemia ⚠
- p.Pro225Arg Multiple submitters hypoplasminogenemia ⚠
- p.Pro250Leu Multiple submitters angioedema, hereditary, 4 ⚠
- p.Pro265Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro465Leu Multiple submitters hypoplasminogenemia ⚠
- p.Pro466Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro522Ser Multiple submitters hypoplasminogenemia ⚠
- p.Pro647Leu Multiple submitters ⚠
- p.Ser443Arg Multiple submitters angioedema, hereditary, 4 ⚠
- p.Thr114Met Multiple submitters ⚠
- p.Thr123Ile Multiple submitters hypoplasminogenemia ⚠
- p.Thr200Ala Multiple submitters hypoplasminogenemia ⚠
- p.Thr248Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr272Ala Multiple submitters hypoplasminogenemia ⚠
- p.Thr295Ile Multiple submitters angioedema, hereditary, 4 ⚠
- p.Thr517Ile Multiple submitters angioedema, hereditary, 4 ⚠
- p.Thr546Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr165His Multiple submitters hypoplasminogenemia ⚠
- p.Tyr219His Multiple submitters Inborn genetic diseases
- p.Tyr283Cys Multiple submitters angioedema, hereditary, 4 ⚠
- p.Tyr732His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr99Phe Multiple submitters hypoplasminogenemia ⚠
- p.Val462Ala Multiple submitters hypoplasminogenemia ⚠
- p.Val462Glu Multiple submitters hypoplasminogenemia ⚠
- p.Val582Ala Multiple submitters angioedema, hereditary, 4 ⚠
- p.Val586Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val596Gly Multiple submitters angioedema, hereditary, 4 ⚠
- p.Val676Ile Multiple submitters ⚠
- p.Val6Ala Multiple submitters angioedema, hereditary, 4 ⚠
- p.Val6Met Multiple submitters Inborn genetic diseases ⚠
- p.Val806Met Multiple submitters Inborn genetic diseases ⚠
- c.1096+5G>T Single submitter
- c.1439-12T>A Single submitter
- c.1439-7T>G Single submitter
- c.1588-20A>C Single submitter
- c.1682-3C>T Single submitter
- c.1802+3A>G Single submitter angioedema, hereditary, 4
- c.1802+5G>A Single submitter
- c.185+6del Single submitter
- c.293-14G>A Single submitter
- c.407+8A>G Single submitter angioedema, hereditary, 4
- c.49+6A>T Single submitter
- c.50-4C>G Single submitter
- c.50-5T>G Single submitter angioedema, hereditary, 4
- c.669-8C>A Single submitter angioedema, hereditary, 4
- c.788-11G>T Single submitter angioedema, hereditary, 4
- c.788-15T>A Single submitter
- c.950+4A>G Single submitter hypoplasminogenemia
- p.Ala208Ser Single submitter Inborn genetic diseases ⚠
- p.Ala288Ser Single submitter ⚠
- p.Ala419Val Single submitter
- p.Ala431Thr Single submitter ⚠
- p.Ala43Gly Single submitter ⚠
- p.Ala459Gly Single submitter ⚠
- p.Ala494Lys Single submitter angioedema, hereditary, 4
- p.Ala494Thr Single submitter Inborn genetic diseases ⚠
- p.Ala506Val Single submitter Inborn genetic diseases ⚠
- p.Ala507Ser Single submitter ⚠
- p.Ala524Glu Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala524Val Single submitter ⚠
- p.Ala587Thr Single submitter
- p.Ala63Ser Single submitter angioedema, hereditary, 4 ⚠
- p.Ala713Thr Single submitter ⚠
- p.Ala719Thr Single submitter ⚠
- p.Ala719Val Single submitter
- p.Arg134Gly Single submitter ⚠
- p.Arg235Cys Single submitter ⚠
- p.Arg239Ser Single submitter ⚠
- p.Arg239Thr Single submitter Inborn genetic diseases ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg284Cys Single submitter ⚠
- p.Arg325Cys Single submitter ⚠
- p.Arg325Leu Single submitter angioedema, hereditary, 4 ⚠
- p.Arg331Gly Single submitter ⚠
- p.Arg343Trp Single submitter ⚠
- p.Arg408Gln Single submitter ⚠
- p.Arg523Gln Single submitter angioedema, hereditary, 4 ⚠
- p.Arg532His Single submitter ⚠
- p.Arg549Ile Single submitter angioedema, hereditary, 4 ⚠
- p.Arg580Ser Single submitter ⚠
- p.Arg696Gly Single submitter angioedema, hereditary, 4 ⚠
- p.Arg696Trp Single submitter ⚠
- p.Arg786His Single submitter Inborn genetic diseases ⚠
- p.Arg786Ser Single submitter ⚠
- p.Arg795His Single submitter ⚠
- p.Arg80Ile Single submitter
- p.Arg80Lys Single submitter angioedema, hereditary, 4 ⚠
- p.Asn226Ile Single submitter angioedema, hereditary, 4 ⚠
- p.Asn251His Single submitter Inborn genetic diseases ⚠
- p.Asn286Thr Single submitter ⚠
- p.Asn313Asp Single submitter ⚠
- p.Asn529= Single submitter
- p.Asn788Tyr Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Asp174Asn Single submitter Inborn genetic diseases ⚠
- p.Asp210Glu Single submitter ⚠
- p.Asp238= Single submitter angioedema, hereditary, 4
- p.Asp23Ile Single submitter angioedema, hereditary, 4
- p.Asp249Glu Single submitter angioedema, hereditary, 4 ⚠
- p.Asp249Tyr Single submitter ⚠
- p.Asp258Asn Single submitter
- p.Asp328Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp432His Single submitter ⚠
- p.Cys185Tyr Single submitter ⚠
- p.Cys377Tyr Single submitter ⚠
- p.Cys481Tyr Single submitter angioedema, hereditary, 4 ⚠
- p.Cys543Arg Single submitter ⚠
- p.Cys555Arg Single submitter Inborn genetic diseases ⚠
- p.Gln302His Single submitter Inborn genetic diseases
- p.Gln375Arg Single submitter ⚠
- p.Gln40Lys Single submitter ⚠
- p.Gln410Arg Single submitter angioedema, hereditary, 4 ⚠
- p.Gln410Lys Single submitter ⚠
- p.Gln650Leu Single submitter angioedema, hereditary, 4 ⚠
- p.Gln708Glu Single submitter ⚠
- p.Glu149Asp Single submitter ⚠
- p.Glu180Ala Single submitter angioedema, hereditary, 4 ⚠
- p.Glu183Gln Single submitter ⚠
- p.Glu20Ala Single submitter angioedema, hereditary, 4 ⚠
- p.Glu360Lys Single submitter Inborn genetic diseases ⚠
- p.Glu47Gln Single submitter Inborn genetic diseases ⚠
- p.Glu55del Single submitter angioedema, hereditary, 4
- p.Glu55Gly Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Glu698Lys Single submitter Inborn genetic diseases ⚠
- p.Glu743Lys Single submitter angioedema, hereditary, 4 ⚠
- p.Gly106Trp Single submitter ⚠
- p.Gly108Val Single submitter ⚠
- p.Gly146Val Single submitter ⚠
- p.Gly17Val Single submitter ⚠
- p.Gly195Ser Single submitter ⚠
- p.Gly19Ala Single submitter ⚠
- p.Gly278Ala Single submitter angioedema, hereditary, 4 ⚠
- p.Gly329Arg Single submitter Inborn genetic diseases ⚠
- p.Gly44Arg Single submitter angioedema, hereditary, 4 ⚠
- p.Gly491= Single submitter
- p.Gly525Ser Single submitter angioedema, hereditary, 4 ⚠
- p.Gly583Glu Single submitter ⚠
- p.Gly638Ser Single submitter angioedema, hereditary, 4 ⚠
- p.Gly714Asp Single submitter
- p.Gly752Asp Single submitter ⚠
- p.Gly776Arg Single submitter hypoplasminogenemia ⚠
- p.Gly805Arg Single submitter Inborn genetic diseases ⚠
- p.His142Gln Single submitter ⚠
- p.His187Leu Single submitter ⚠
- p.His215Gln Single submitter ⚠
- p.His307Gln Single submitter Inborn genetic diseases ⚠
- p.His511Gln Single submitter ⚠
- p.His513= Single submitter
- p.His588Arg Single submitter ⚠
- p.Ile46Thr Single submitter angioedema, hereditary, 4 ⚠
- p.Ile652Arg Single submitter angioedema, hereditary, 4 ⚠
- p.Ile677Met Single submitter ⚠
- p.Ile677Thr Single submitter angioedema, hereditary, 4 ⚠
- p.Ile701Thr Single submitter
- p.Ile75Thr Single submitter Inborn genetic diseases ⚠
- p.Leu10Phe Single submitter angioedema, hereditary, 4 ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu33= Single submitter angioedema, hereditary, 4
- p.Leu33Gln Single submitter Inborn genetic diseases ⚠
- p.Leu33Val Single submitter Inborn genetic diseases ⚠
- p.Leu659Phe Single submitter ⚠
- p.Leu669Val Single submitter Inborn genetic diseases ⚠
- p.Lys231del Single submitter hypoplasminogenemia
- p.Lys277Gln Single submitter Inborn genetic diseases ⚠
- p.Lys396Asn Single submitter ⚠
- p.Lys528Asn Single submitter ⚠
- p.Lys575Arg Single submitter ⚠
- p.Lys575Asn Single submitter Inborn genetic diseases ⚠
- p.Lys634Gln Single submitter ⚠
- p.Met115Ile Single submitter ⚠
- p.Met201_Ser202delinsIleAla Single submitter
- p.Met201Ile Single submitter Inborn genetic diseases ⚠
- p.Met423Val Single submitter Inborn genetic diseases ⚠
- p.Met482Ile Single submitter ⚠
- p.Met76Leu Single submitter ⚠
- p.Met76Thr Single submitter Inborn genetic diseases ⚠
- p.Phe224Cys Single submitter ⚠
- p.Phe246Leu Single submitter ⚠
- p.Phe59= Single submitter angioedema, hereditary, 4
- p.Phe711Leu Single submitter ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro139Thr Single submitter Inborn genetic diseases ⚠
- p.Pro143Arg Single submitter ⚠
- p.Pro143Ser Single submitter ⚠
- p.Pro162Leu Single submitter ⚠
- p.Pro162Ser Single submitter Inborn genetic diseases ⚠
- p.Pro260Ala Single submitter Inborn genetic diseases ⚠
- p.Pro266Ala Single submitter ⚠
- p.Pro315Leu Single submitter angioedema, hereditary, 4 ⚠
- p.Pro350Ser Single submitter ⚠
- p.Pro364Leu Single submitter ⚠
- p.Pro372Ala Single submitter ⚠
- p.Pro406Gln Single submitter hypoplasminogenemia ⚠
- p.Pro417Gln Single submitter
- p.Pro465Ala Single submitter ⚠
- p.Pro476Thr Single submitter ⚠
- p.Pro534Ala Single submitter ⚠
- p.Pro689Leu Single submitter Inborn genetic diseases ⚠
- p.Pro689Thr Single submitter Inborn genetic diseases ⚠
- p.Ser129Pro Single submitter angioedema, hereditary, 4 ⚠
- p.Ser138Ter Single submitter
- p.Ser202Ala Single submitter Inborn genetic diseases ⚠
- p.Ser355Pro Single submitter ⚠
- p.Ser355Thr Single submitter ⚠
- p.Ser358Thr Single submitter ⚠
- p.Ser35Gly Single submitter angioedema, hereditary, 4 ⚠
- p.Ser400Cys Single submitter Inborn genetic diseases
- p.Ser455Pro Single submitter angioedema, hereditary, 4 ⚠
- p.Ser514Gly Single submitter angioedema, hereditary, 4 ⚠
- p.Ser632Phe Single submitter ⚠
- p.Ser688Cys Single submitter
- p.Ser688Phe Single submitter angioedema, hereditary, 4 ⚠
- p.Ser688Thr Single submitter ⚠
- p.Ser755Gly Single submitter hypoplasminogenemia ⚠
- p.Ser760Gly Single submitter hypoplasminogenemia ⚠
- p.Ser82Cys Single submitter Inborn genetic diseases
- p.Thr123Asn Single submitter ⚠
- p.Thr141Ile Single submitter ⚠
- p.Thr247Ser Single submitter ⚠
- p.Thr272Pro Single submitter ⚠
- p.Thr295Asn Single submitter angioedema, hereditary, 4 ⚠
- p.Thr359Ala Single submitter angioedema, hereditary, 4 ⚠
- p.Thr371Ile Single submitter ⚠
- p.Thr394Ala Single submitter ⚠
- p.Thr412Ala Single submitter ⚠
- p.Thr457Ala Single submitter Inborn genetic diseases ⚠
- p.Thr520Arg Single submitter ⚠
- p.Thr546Ile Single submitter ⚠
- p.Thr707Ile Single submitter angioedema, hereditary, 4 ⚠
- p.Thr778Ile Single submitter ⚠
- p.Tyr173His Single submitter ⚠
- p.Tyr193Cys Single submitter Thrombus ⚠
- p.Tyr552Asp Single submitter ⚠
- p.Tyr554Cys Single submitter ⚠
- p.Tyr691Asn Single submitter ⚠
- p.Tyr793Cys Single submitter Inborn genetic diseases ⚠
- p.Val26= Single submitter angioedema, hereditary, 4