MBL2 — 131 ClinVar variants
All ClinVar germline MBL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
12 Conflicting · 2 Benign/Likely benign · 20 Likely benign · 97 Uncertain significance
Full MBL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MBL2 p.Asn176Ser
Conflicting
Single submitter
mannose-binding lectin deficiency
-
MBL2 p.Gly54Asp
Conflicting
Single submitter
mannose-binding lectin deficiency
-
MBL2 p.Thr55Ala
Conflicting
Single submitter
mannose-binding lectin deficiency
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MBL2 p.Asp219Val
Uncertain significance
Multiple submitters
mannose-binding lectin deficiency
-
MBL2 p.Glu245Lys
Uncertain significance
Multiple submitters
mannose-binding lectin deficiency
-
MBL2 p.Lys150Thr
Uncertain significance
Multiple submitters
mannose-binding lectin deficiency
-
MBL2 p.Pro101Leu
Uncertain significance
Multiple submitters
MBL2-related disorder
- MBL2 p.Ala153Val Uncertain significance Single submitter
- MBL2 p.Ala34Glu Uncertain significance Single submitter
-
MBL2 p.Ala37Ser
Uncertain significance
Single submitter
mannose-binding lectin deficiency
- MBL2 p.Arg202Thr Uncertain significance Single submitter
- MBL2 p.Asn215Asp Uncertain significance Single submitter
- MBL2 p.Asp50Tyr Uncertain significance Single submitter
- MBL2 p.Asp96Asn Uncertain significance Single submitter
- MBL2 p.Cys236Phe Uncertain significance Single submitter
- MBL2 p.Cys236Tyr Uncertain significance Single submitter
-
MBL2 p.Gln194Lys
Uncertain significance
Single submitter
mannose-binding lectin deficiency
- MBL2 p.Gly45Cys Uncertain significance Single submitter
- MBL2 p.Gly65Ala Uncertain significance Single submitter
- MBL2 p.Gly65Trp Uncertain significance Single submitter
- MBL2 p.Gly71Ala Uncertain significance Single submitter
-
MBL2 p.Gly89Arg
Uncertain significance
Single submitter
mannose-binding lectin deficiency
- MBL2 p.Ile186Leu Uncertain significance Single submitter
- MBL2 p.Ile36Met Uncertain significance Single submitter
- MBL2 p.Ile36Thr Uncertain significance Single submitter
- MBL2 p.Leu12Val Uncertain significance Single submitter
- MBL2 p.Met146Val Uncertain significance Single submitter
- MBL2 p.Pro235Thr Uncertain significance Single submitter
- MBL2 p.Pro8Ser Uncertain significance Single submitter
- MBL2 p.Pro97Ser Uncertain significance Single submitter
- MBL2 p.Val243Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
-
MBL2 p.Gly45Ser
Uncertain significance
Multiple submitters
mannose-binding lectin deficiency
- MBL2 p.Ala173Asp Uncertain significance Single submitter
- MBL2 p.Ala173Thr Uncertain significance Single submitter
- MBL2 p.Ala182Pro Uncertain significance Single submitter
-
MBL2 p.Arg52Cys
Conflicting
Single submitter
mannose-binding lectin deficiency
- MBL2 p.Asn136Tyr Uncertain significance Single submitter
- MBL2 p.Leu12Arg Uncertain significance Single submitter
-
MBL2 p.Leu9Pro
Uncertain significance
Single submitter
mannose-binding lectin deficiency
-
MBL2 p.Lys56Glu
Uncertain significance
Single submitter
mannose-binding lectin deficiency
- MBL2 p.Phe183Cys Uncertain significance Single submitter
-
MBL2 p.Ser85Cys
Uncertain significance
Single submitter
mannose-binding lectin deficiency
-
MBL2 p.Thr164Pro
Uncertain significance
Single submitter
mannose-binding lectin deficiency
All MBL2 variants
Conflicting classifications of pathogenicity 12
- c.-9-5C>G Single submitter mannose-binding lectin deficiency
- c.*1694G>T Single submitter mannose-binding lectin deficiency
- c.*1695G>T Single submitter mannose-binding lectin deficiency
- c.*2450A>T Single submitter mannose-binding lectin deficiency
- p.Arg52Cys Single submitter mannose-binding lectin deficiency ⚠
- p.Asn176Ser Single submitter mannose-binding lectin deficiency ⚠
- p.Asn44= Single submitter mannose-binding lectin deficiency
- p.Glu210Ter Single submitter mannose-binding lectin deficiency
- p.Gly54Asp Single submitter mannose-binding lectin deficiency ⚠
- p.Gly83= Single submitter mannose-binding lectin deficiency
- p.Pro101= Single submitter mannose-binding lectin deficiency
- p.Thr55Ala Single submitter mannose-binding lectin deficiency ⚠
Benign/Likely benign 2
- p.Gly57Glu Multiple submitters mannose-binding lectin deficiency
- p.Leu126= Multiple submitters mannose-binding lectin deficiency
Likely benign 20
- c.187+5G>A Multiple submitters
- c.*1275T>C Multiple submitters mannose-binding lectin deficiency
- c.*1691G>A Multiple submitters mannose-binding lectin deficiency
- c.*1857A>G Multiple submitters mannose-binding lectin deficiency
- c.*1879A>C Multiple submitters mannose-binding lectin deficiency
- c.*1913C>T Multiple submitters mannose-binding lectin deficiency
- c.*2040G>T Multiple submitters mannose-binding lectin deficiency
- c.*2048A>G Multiple submitters mannose-binding lectin deficiency
- c.*2219A>C Multiple submitters mannose-binding lectin deficiency
- c.*2388T>G Multiple submitters mannose-binding lectin deficiency
- p.Ala242= Multiple submitters
- c.187+8T>C Single submitter
- c.188-12G>A Single submitter
- p.Leu241= Single submitter
- p.Leu76= Single submitter
- p.Pro84Ser Single submitter
- p.Ser105Thr Single submitter
- p.Ser39Asn Single submitter
- p.Ser40Ala Single submitter
- p.Val234Ile Single submitter
Uncertain significance 97
- c.*1135A>G Multiple submitters mannose-binding lectin deficiency
- c.*1711T>G Multiple submitters mannose-binding lectin deficiency
- c.*865A>C Multiple submitters mannose-binding lectin deficiency
- p.Asn136= Multiple submitters mannose-binding lectin deficiency
- p.Asp219Val Multiple submitters mannose-binding lectin deficiency ⚠
- p.Glu245Lys Multiple submitters mannose-binding lectin deficiency ⚠
- p.Gly45Ser Multiple submitters mannose-binding lectin deficiency ⚠
- p.Lys150Thr Multiple submitters mannose-binding lectin deficiency ⚠
- p.Pro101Leu Multiple submitters MBL2-related disorder ⚠
- c.187+9T>C Single submitter mannose-binding lectin deficiency
- c.*1088C>T Single submitter mannose-binding lectin deficiency
- c.*1134C>T Single submitter mannose-binding lectin deficiency
- c.*1136A>G Single submitter mannose-binding lectin deficiency
- c.*1144A>G Single submitter mannose-binding lectin deficiency
- c.*1213C>T Single submitter mannose-binding lectin deficiency
- c.*1252A>C Single submitter mannose-binding lectin deficiency
- c.*1287C>T Single submitter mannose-binding lectin deficiency
- c.*1429A>C Single submitter mannose-binding lectin deficiency
- c.*1448C>T Single submitter mannose-binding lectin deficiency
- c.*1452A>T Single submitter mannose-binding lectin deficiency
- c.*1498C>T Single submitter mannose-binding lectin deficiency
- c.*1568C>T Single submitter mannose-binding lectin deficiency
- c.*1569A>G Single submitter mannose-binding lectin deficiency
- c.*1743T>C Single submitter mannose-binding lectin deficiency
- c.*1819T>C Single submitter mannose-binding lectin deficiency
- c.*1839A>G Single submitter mannose-binding lectin deficiency
- c.*2032C>T Single submitter mannose-binding lectin deficiency
- c.*2033G>A Single submitter mannose-binding lectin deficiency
- c.*2066G>T Single submitter mannose-binding lectin deficiency
- c.*2067C>T Single submitter mannose-binding lectin deficiency
- c.*2129T>C Single submitter mannose-binding lectin deficiency
- c.*2207G>A Single submitter mannose-binding lectin deficiency
- c.*2209T>C Single submitter mannose-binding lectin deficiency
- c.*2457G>C Single submitter mannose-binding lectin deficiency
- c.*2470A>C Single submitter mannose-binding lectin deficiency
- c.*2477C>T Single submitter mannose-binding lectin deficiency
- c.*2648C>A Single submitter mannose-binding lectin deficiency
- c.*2702G>A Single submitter mannose-binding lectin deficiency
- c.*2727G>T Single submitter mannose-binding lectin deficiency
- c.*2751A>C Single submitter mannose-binding lectin deficiency
- c.*282A>G Single submitter mannose-binding lectin deficiency
- c.*289C>T Single submitter mannose-binding lectin deficiency
- c.*324C>T Single submitter mannose-binding lectin deficiency
- c.*366G>A Single submitter mannose-binding lectin deficiency
- c.*3G>T Single submitter mannose-binding lectin deficiency
- c.*447G>C Single submitter mannose-binding lectin deficiency
- c.*674A>G Single submitter mannose-binding lectin deficiency
- c.*675C>T Single submitter mannose-binding lectin deficiency
- c.*708G>A Single submitter mannose-binding lectin deficiency
- c.*783C>T Single submitter mannose-binding lectin deficiency
- c.*7A>G Single submitter mannose-binding lectin deficiency
- c.*937A>G Single submitter mannose-binding lectin deficiency
- c.*953T>C Single submitter mannose-binding lectin deficiency
- c.*966A>G Single submitter mannose-binding lectin deficiency
- c.*99T>G Single submitter mannose-binding lectin deficiency
- p.Ala153Val Single submitter ⚠
- p.Ala173Asp Single submitter ⚠
- p.Ala173Thr Single submitter ⚠
- p.Ala182Pro Single submitter ⚠
- p.Ala34Glu Single submitter ⚠
- p.Ala37Ser Single submitter mannose-binding lectin deficiency ⚠
- p.Arg202Thr Single submitter ⚠
- p.Asn136Tyr Single submitter ⚠
- p.Asn215Asp Single submitter ⚠
- p.Asp50Tyr Single submitter ⚠
- p.Asp96Asn Single submitter ⚠
- p.Cys236Phe Single submitter ⚠
- p.Cys236Tyr Single submitter ⚠
- p.Cys32Ser Single submitter
- p.Gln116Pro Single submitter
- p.Gln194Lys Single submitter mannose-binding lectin deficiency ⚠
- p.Gly45Cys Single submitter ⚠
- p.Gly65Ala Single submitter ⚠
- p.Gly65Trp Single submitter ⚠
- p.Gly71Ala Single submitter ⚠
- p.Gly89Arg Single submitter mannose-binding lectin deficiency ⚠
- p.Ile186Leu Single submitter ⚠
- p.Ile36Met Single submitter ⚠
- p.Ile36Thr Single submitter ⚠
- p.Leu12Arg Single submitter ⚠
- p.Leu12Val Single submitter ⚠
- p.Leu9Pro Single submitter mannose-binding lectin deficiency ⚠
- p.Lys150= Single submitter MBL2-related disorder
- p.Lys56Glu Single submitter mannose-binding lectin deficiency ⚠
- p.Met146Val Single submitter ⚠
- p.Phe183= Single submitter mannose-binding lectin deficiency
- p.Phe183Cys Single submitter ⚠
- p.Pro235Thr Single submitter ⚠
- p.Pro33= Single submitter mannose-binding lectin deficiency
- p.Pro8Ser Single submitter ⚠
- p.Pro97Ser Single submitter ⚠
- p.Ser161= Single submitter mannose-binding lectin deficiency
- p.Ser85Cys Single submitter mannose-binding lectin deficiency ⚠
- p.Thr164Pro Single submitter mannose-binding lectin deficiency ⚠
- p.Val243Ile Single submitter ⚠
- p.Gly74fs No assertion criteria MBL2-related disorder
- p.Leu12del No assertion criteria MBL2-related disorder