MASP2 — 227 ClinVar variants
All ClinVar germline MASP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →
3 Likely pathogenic · 15 Conflicting · 9 Benign · 16 Benign/Likely benign · 37 Likely benign · 147 Uncertain significance
Full MASP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 134
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MASP2 p.Thr239Ser
Likely pathogenic
No assertion criteria
immunodeficiency due to MASP-2 deficiency
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MASP2 p.Asp120Gly
Conflicting
Single submitter
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Cys156Tyr
Conflicting
Single submitter
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Ile276Met
Conflicting
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ser642Gly Conflicting Single submitter
-
MASP2 p.Thr128Met
Conflicting
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Thr599Ile Conflicting Single submitter
-
MASP2 p.Thr88Met
Conflicting
Single submitter
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Val311Ile
Conflicting
Single submitter
MASP2-related disorder
Predictors lean, ClinVar uncertain 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MASP2 p.Ala149Val
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ala169Gly Uncertain significance Multiple submitters
-
MASP2 p.Arg29His
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Asp75Asn
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Cys396Tyr
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Gly34Ser
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Gly635Arg
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.His490Gln
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.His525Arg
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Trp573Cys
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Val77Ile
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ala100Thr Uncertain significance Single submitter
- MASP2 p.Ala346Glu Uncertain significance Single submitter
-
MASP2 p.Ala360Thr
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ala360Val Uncertain significance Single submitter
- MASP2 p.Ala40Asp Uncertain significance Single submitter
- MASP2 p.Ala471Thr Uncertain significance Single submitter
- MASP2 p.Ala492Thr Uncertain significance Single submitter
- MASP2 p.Ala494Thr Uncertain significance Single submitter
- MASP2 p.Ala600Thr Uncertain significance Single submitter
- MASP2 p.Arg168Cys Uncertain significance Single submitter
- MASP2 p.Arg356Leu Uncertain significance Single submitter
- MASP2 p.Arg578Lys Uncertain significance Single submitter
- MASP2 p.Asp138Glu Uncertain significance Single submitter
- MASP2 p.Asp351Glu Uncertain significance Single submitter
- MASP2 p.Asp641Asn Uncertain significance Single submitter
- MASP2 p.Asp75His Uncertain significance Single submitter
- MASP2 p.Cys598Tyr Uncertain significance Single submitter
- MASP2 p.Cys618Ser Uncertain significance Single submitter
-
MASP2 p.Cys629Ser
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Cys629Tyr Uncertain significance Single submitter
- MASP2 p.Cys72Tyr Uncertain significance Single submitter
- MASP2 p.Gln298His Uncertain significance Single submitter
- MASP2 p.Glu141Lys Uncertain significance Single submitter
- MASP2 p.Glu38Gln Uncertain significance Single submitter
-
MASP2 p.Glu397Asp
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Glu622Lys Uncertain significance Single submitter
-
MASP2 p.Glu93Gln
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Gly110Val Uncertain significance Single submitter
- MASP2 p.Gly162Ser Uncertain significance Single submitter
- MASP2 p.Gly256Asp Uncertain significance Single submitter
- MASP2 p.Gly464Asp Uncertain significance Single submitter
- MASP2 p.Gly528Ser Uncertain significance Single submitter
- MASP2 p.Gly568Arg Uncertain significance Single submitter
- MASP2 p.His292Gln Uncertain significance Single submitter
- MASP2 p.His310Tyr Uncertain significance Single submitter
-
MASP2 p.His490Tyr
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ile291Ser Uncertain significance Single submitter
- MASP2 p.Ile380Leu Uncertain significance Single submitter
- MASP2 p.Ile567Thr Uncertain significance Single submitter
- MASP2 p.Ile590Met Uncertain significance Single submitter
- MASP2 p.Ile652Thr Uncertain significance Single submitter
- MASP2 p.Leu208Phe Uncertain significance Single submitter
- MASP2 p.Leu240Met Uncertain significance Single submitter
- MASP2 p.Leu335Pro Uncertain significance Single submitter
- MASP2 p.Leu479Arg Uncertain significance Single submitter
- MASP2 p.Leu505Pro Uncertain significance Single submitter
- MASP2 p.Leu9Phe Uncertain significance Single submitter
-
MASP2 p.Lys270Gln
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Lys422Glu Uncertain significance Single submitter
- MASP2 p.Lys604Gln Uncertain significance Single submitter
- MASP2 p.Met616Thr Uncertain significance Single submitter
-
MASP2 p.Met658Val
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Phe133Val Uncertain significance Single submitter
- MASP2 p.Phe400Cys Uncertain significance Single submitter
-
MASP2 p.Pro146Leu
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Pro20Leu Uncertain significance Single submitter
- MASP2 p.Pro299Ser Uncertain significance Single submitter
- MASP2 p.Pro507Leu Uncertain significance Single submitter
- MASP2 p.Pro605Thr Uncertain significance Single submitter
- MASP2 p.Pro608Ala Uncertain significance Single submitter
-
MASP2 p.Ser323Arg
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ser362Asn Uncertain significance Single submitter
- MASP2 p.Ser420Asn Uncertain significance Single submitter
- MASP2 p.Ser437Pro Uncertain significance Single submitter
- MASP2 p.Ser69Phe Uncertain significance Single submitter
- MASP2 p.Thr128Ala Uncertain significance Single submitter
- MASP2 p.Thr179Asn Uncertain significance Single submitter
- MASP2 p.Thr564Ala Uncertain significance Single submitter
- MASP2 p.Thr613Ile Uncertain significance Single submitter
- MASP2 p.Trp47Arg Uncertain significance Single submitter
- MASP2 p.Tyr410Cys Uncertain significance Single submitter
- MASP2 p.Val144Ala Uncertain significance Single submitter
- MASP2 p.Val279Leu Uncertain significance Single submitter
-
MASP2 p.Val405Met
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Val411Leu Uncertain significance Single submitter
-
MASP2 p.Val411Met
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Val649Ala Uncertain significance Single submitter
- MASP2 p.Val653Ala Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
-
MASP2 p.Arg58Cys
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.His157Arg
Benign/Likely benign
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Pro52Ser
Uncertain significance
Multiple submitters
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ser628Gly Uncertain significance Multiple submitters
-
MASP2 p.Thr294Met
Benign/Likely benign
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Val377Ala
Benign/Likely benign
Multiple submitters
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Ala132Val
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Arg118Cys
Conflicting
Single submitter
immunodeficiency due to MASP-2 deficiency
-
MASP2 p.Arg168His
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Arg175Cys Uncertain significance Single submitter
- MASP2 p.Arg178Cys Uncertain significance Single submitter
- MASP2 p.Arg178Ser Uncertain significance Single submitter
- MASP2 p.Arg29Cys Uncertain significance Single submitter
- MASP2 p.Arg29Leu Uncertain significance Single submitter
- MASP2 p.Arg439Cys Uncertain significance Single submitter
- MASP2 p.Arg444His Uncertain significance Single submitter
-
MASP2 p.Arg56His
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Asn123Lys Uncertain significance Single submitter
- MASP2 p.Asp226Gly Uncertain significance Single submitter
- MASP2 p.Asp226Tyr Uncertain significance Single submitter
- MASP2 p.Asp594His Uncertain significance Single submitter
- MASP2 p.Glu124Lys Benign Single submitter
- MASP2 p.Gly147Arg Uncertain significance Single submitter
- MASP2 p.Gly170Ser Uncertain significance Single submitter
- MASP2 p.Gly91Arg Uncertain significance Single submitter
- MASP2 p.His520Tyr Uncertain significance Single submitter
- MASP2 p.Leu637Met Uncertain significance Single submitter
- MASP2 p.Lys671Gln Uncertain significance Single submitter
-
MASP2 p.Phe221Leu
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Pro204Leu Uncertain significance Single submitter
- MASP2 p.Pro591Leu Uncertain significance Single submitter
-
MASP2 p.Ser209Phe
Uncertain significance
Single submitter
immunodeficiency due to MASP-2 deficiency
- MASP2 p.Ser216Cys Uncertain significance Single submitter
- MASP2 p.Ser283Leu Uncertain significance Single submitter
- MASP2 p.Thr419Met Uncertain significance Single submitter
- MASP2 p.Val485Ile Likely benign Single submitter
All MASP2 variants
Likely pathogenic 3
- p.Arg376Ter Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Ser506fs Single submitter
- p.Thr239Ser No assertion criteria immunodeficiency due to MASP-2 deficiency ⚠
Conflicting classifications of pathogenicity 15
- c.234+6G>A Single submitter immunodeficiency due to MASP-2 deficiency
- c.741+1G>T Single submitter immunodeficiency due to MASP-2 deficiency
- p.Arg118Cys Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Asp120Gly Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Asp355Val Single submitter immunodeficiency due to MASP-2 deficiency
- p.Cys156Tyr Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Ile276Met Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Ser642Gly Single submitter ⚠
- p.Thr128Met Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Thr381Ile Single submitter immunodeficiency due to MASP-2 deficiency
- p.Thr599Ile Single submitter ⚠
- p.Thr88Met Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Trp418fs Single submitter immunodeficiency due to MASP-2 deficiency
- p.Val311Ile Single submitter MASP2-related disorder ⚠
- p.Val77= Single submitter immunodeficiency due to MASP-2 deficiency
Benign 9
- p.Ala136= Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Cys11= Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Pro204= Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Ser185= Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Thr294= Multiple submitters immunodeficiency due to MASP-2 deficiency
- c.*225T>C Single submitter
- p.Glu124Lys Single submitter ⚠
- p.His155Arg Single submitter immunodeficiency due to MASP-2 deficiency
- p.Gly464Ala No assertion criteria MASP2-related disorder
Benign/Likely benign 16
- c.234+13C>T Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Ala297= Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Arg439His Multiple submitters
- p.Arg99Gln Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Asn539= Multiple submitters
- p.Asp371Tyr Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Asp415Asn Multiple submitters
- p.Gln577His Multiple submitters
- p.His157Arg Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Pro126Leu Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Pro20= Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Ser13Leu Multiple submitters
- p.Ser493= Multiple submitters
- p.Thr294Met Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Tyr243= Multiple submitters immunodeficiency due to MASP-2 deficiency
- p.Val377Ala Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
Likely benign 37
- p.Ser13= Multiple submitters
- c.1088-14T>C Single submitter
- c.5+10C>T Single submitter
- c.5+9G>A Single submitter
- c.544+620A>G Single submitter
- c.742-12C>T Single submitter immunodeficiency due to MASP-2 deficiency
- c.890-17T>G Single submitter
- c.-7G>A Single submitter
- c.*184C>T Single submitter immunodeficiency due to MASP-2 deficiency
- p.Ala451= Single submitter
- p.Arg178His Single submitter
- p.Arg356Gln Single submitter
- p.Arg376Gln Single submitter
- p.Arg45Gln Single submitter
- p.Arg646= Single submitter
- p.Asn272= Single submitter
- p.Asn308= Single submitter
- p.Asp685Asn Single submitter
- p.Glu487Gly Single submitter
- p.Gly129= Single submitter
- p.Gly220= Single submitter
- p.Leu427= Single submitter
- p.Leu49= Single submitter
- p.Leu79= Single submitter
- p.Pro33= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Pro383= Single submitter
- p.Pro591= Single submitter
- p.Thr116= Single submitter
- p.Thr670= Single submitter
- p.Val429= Single submitter
- p.Val485Ile Single submitter ⚠
- p.Val649= Single submitter
- p.Ala619= No assertion criteria MASP2-related disorder
- p.Arg563= No assertion criteria MASP2-related disorder
- p.Arg609= No assertion criteria MASP2-related disorder
- p.Ser119= No assertion criteria MASP2-related disorder
- p.Thr549= No assertion criteria MASP2-related disorder
Uncertain significance 147
- p.Ala149Val Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Ala169Gly Multiple submitters ⚠
- p.Arg29His Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Arg58Cys Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Asp75Asn Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Cys396Tyr Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Gly34Ser Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Gly635Arg Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.His490Gln Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.His525Arg Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Pro52Ser Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Ser628Gly Multiple submitters ⚠
- p.Trp573Cys Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- p.Val77Ile Multiple submitters immunodeficiency due to MASP-2 deficiency ⚠
- c.1087+8_1087+10del Single submitter MASP2-related disorder
- c.889+4A>G Single submitter
- c.890-1G>A Single submitter immunodeficiency due to MASP-2 deficiency
- c.*111C>T Single submitter immunodeficiency due to MASP-2 deficiency
- c.*171A>C Single submitter immunodeficiency due to MASP-2 deficiency
- c.*212A>G Single submitter immunodeficiency due to MASP-2 deficiency
- c.*219C>T Single submitter immunodeficiency due to MASP-2 deficiency
- c.*220A>G Single submitter immunodeficiency due to MASP-2 deficiency
- c.*282C>A Single submitter immunodeficiency due to MASP-2 deficiency
- c.*311T>C Single submitter immunodeficiency due to MASP-2 deficiency
- c.*64C>T Single submitter immunodeficiency due to MASP-2 deficiency
- p.Ala100Thr Single submitter ⚠
- p.Ala132Val Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Ala169= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Ala31= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Ala346Glu Single submitter ⚠
- p.Ala360= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Ala360Thr Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Ala360Val Single submitter ⚠
- p.Ala40Asp Single submitter ⚠
- p.Ala438= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Ala471Thr Single submitter ⚠
- p.Ala492Thr Single submitter ⚠
- p.Ala494Thr Single submitter ⚠
- p.Ala600Thr Single submitter ⚠
- p.Arg168Cys Single submitter ⚠
- p.Arg168His Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg178Cys Single submitter ⚠
- p.Arg178Ser Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg29Leu Single submitter ⚠
- p.Arg356Leu Single submitter ⚠
- p.Arg439Cys Single submitter ⚠
- p.Arg444His Single submitter ⚠
- p.Arg56His Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Arg578Lys Single submitter ⚠
- p.Asn123Lys Single submitter ⚠
- p.Asp138Glu Single submitter ⚠
- p.Asp140= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Asp140del Single submitter
- p.Asp226Gly Single submitter ⚠
- p.Asp226Tyr Single submitter ⚠
- p.Asp351Glu Single submitter ⚠
- p.Asp594His Single submitter ⚠
- p.Asp641Asn Single submitter ⚠
- p.Asp641Glu Single submitter
- p.Asp75His Single submitter ⚠
- p.Cys156_His157insArgAspHisHisCys Single submitter
- p.Cys598Tyr Single submitter ⚠
- p.Cys618Ser Single submitter ⚠
- p.Cys629Ser Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Cys629Tyr Single submitter ⚠
- p.Cys72Tyr Single submitter ⚠
- p.Gln298His Single submitter ⚠
- p.Glu141Lys Single submitter ⚠
- p.Glu38Gln Single submitter ⚠
- p.Glu397Asp Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Glu622Lys Single submitter ⚠
- p.Glu93Gln Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Gly110Val Single submitter ⚠
- p.Gly147Arg Single submitter ⚠
- p.Gly162Ser Single submitter ⚠
- p.Gly170Ser Single submitter ⚠
- p.Gly256Asp Single submitter ⚠
- p.Gly28Arg Single submitter
- p.Gly464Asp Single submitter ⚠
- p.Gly528Ser Single submitter ⚠
- p.Gly568Arg Single submitter ⚠
- p.Gly91Arg Single submitter ⚠
- p.His292Gln Single submitter ⚠
- p.His310Tyr Single submitter ⚠
- p.His490Tyr Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.His520Tyr Single submitter ⚠
- p.Ile291Ser Single submitter ⚠
- p.Ile380Leu Single submitter ⚠
- p.Ile567Thr Single submitter ⚠
- p.Ile590Met Single submitter ⚠
- p.Ile652Thr Single submitter ⚠
- p.Leu208Phe Single submitter ⚠
- p.Leu240Met Single submitter ⚠
- p.Leu335Pro Single submitter ⚠
- p.Leu479Arg Single submitter ⚠
- p.Leu505Pro Single submitter ⚠
- p.Leu637Met Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys270Gln Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Lys422Glu Single submitter ⚠
- p.Lys604Gln Single submitter ⚠
- p.Lys671Gln Single submitter ⚠
- p.Met586fs Single submitter
- p.Met616Thr Single submitter ⚠
- p.Met658Val Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Phe133Val Single submitter ⚠
- p.Phe221Leu Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Phe27= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Phe400Cys Single submitter ⚠
- p.Pro146Leu Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Pro204Leu Single submitter ⚠
- p.Pro206Thr Single submitter
- p.Pro20Leu Single submitter ⚠
- p.Pro299Ser Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Pro53= Single submitter immunodeficiency due to MASP-2 deficiency
- p.Pro591Leu Single submitter ⚠
- p.Pro605Thr Single submitter ⚠
- p.Pro608Ala Single submitter ⚠
- p.Ser193Pro Single submitter
- p.Ser209Phe Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Ser216Cys Single submitter ⚠
- p.Ser283Leu Single submitter ⚠
- p.Ser323Arg Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Ser362Asn Single submitter ⚠
- p.Ser420Asn Single submitter ⚠
- p.Ser437Pro Single submitter ⚠
- p.Ser69Phe Single submitter ⚠
- p.Ser81Ter Single submitter
- p.Thr128Ala Single submitter ⚠
- p.Thr179Asn Single submitter ⚠
- p.Thr419Met Single submitter ⚠
- p.Thr564Ala Single submitter ⚠
- p.Thr613Ile Single submitter ⚠
- p.Trp47Arg Single submitter ⚠
- p.Tyr134Cys Single submitter
- p.Tyr410Cys Single submitter ⚠
- p.Tyr60Cys Single submitter
- p.Val144Ala Single submitter ⚠
- p.Val279Leu Single submitter ⚠
- p.Val405Met Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Val411Leu Single submitter ⚠
- p.Val411Met Single submitter immunodeficiency due to MASP-2 deficiency ⚠
- p.Val649Ala Single submitter ⚠
- p.Val653Ala Single submitter ⚠