MAFB — 234 ClinVar variants
All ClinVar germline MAFB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
13 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 11 Conflicting · 20 Benign · 3 Benign/Likely benign · 25 Likely benign · 150 Uncertain significance
Full MAFB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAFB p.Glu98Asp
Conflicting
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Gly189Arg
Conflicting
Single submitter
Inborn genetic diseases
-
MAFB p.Gly205Ser
Conflicting
Single submitter
Inborn genetic diseases
-
MAFB p.His193Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MAFB p.Ser114Pro
Conflicting
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Ser123Thr
Conflicting
Single submitter
Inborn genetic diseases
-
MAFB p.Ser65Ile
Conflicting
Single submitter
MAFB-related disorder
-
MAFB p.Val296Ile
Conflicting
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
Predictors lean, ClinVar uncertain 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAFB p.Ala110Glu
Uncertain significance
Multiple submitters
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Ala130Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAFB p.Ala176Thr
Uncertain significance
Multiple submitters
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Ala288Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAFB p.Asp153His
Uncertain significance
Multiple submitters
Duane retraction syndrome 3 with or without deafness
-
MAFB p.Asp84Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAFB p.Gly43Ser
Uncertain significance
Multiple submitters
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.His193Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAFB p.Pro42Leu
Uncertain significance
Multiple submitters
Duane retraction syndrome 3 with or without deafness
-
MAFB p.Ser206Asn
Uncertain significance
Multiple submitters
Duane retraction syndrome 3 with or without deafness
-
MAFB p.Thr76Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAFB p.Val150Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAFB p.Ala151Val Uncertain significance Single submitter
-
MAFB p.Ala177Ser
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Ala180Glu
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Ala201Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Ala39Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAFB p.Arg289Cys Uncertain significance Single submitter
-
MAFB p.Arg289Ser
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Arg38Gly
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Cys255Arg Uncertain significance Single submitter
- MAFB p.Gln215Pro Uncertain significance Single submitter
-
MAFB p.Glu10Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Glu267Lys
Uncertain significance
Single submitter
Duane retraction syndrome 3 with or without deafness
-
MAFB p.Glu267Val
Uncertain significance
Single submitter
3-hydroxyisobutyryl-CoA hydrolase deficiency
- MAFB p.Glu278Asp Uncertain significance Single submitter
-
MAFB p.Glu283Gln
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Gly129Ser
Uncertain significance
Single submitter
intellectual disability
-
MAFB p.Gly149Ser
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Gly203Ser Uncertain significance Single submitter
- MAFB p.Gly250Cys Uncertain significance Single submitter
- MAFB p.Gly305Ala Uncertain significance Single submitter
-
MAFB p.His131Pro
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.His134Pro Uncertain significance Single submitter
-
MAFB p.His193Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MAFB p.His81Gln Uncertain significance Single submitter
- MAFB p.Leu121Pro Uncertain significance Single submitter
-
MAFB p.Leu224Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Leu224Pro
Uncertain significance
Single submitter
Duane retraction syndrome 3 with or without deafness
-
MAFB p.Leu36Val
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Leu60His Uncertain significance Single submitter
- MAFB p.Lys297Met Uncertain significance Single submitter
-
MAFB p.Met7Leu
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Met7Val Uncertain significance Single submitter
-
MAFB p.Pro146Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAFB p.Pro146Thr Uncertain significance Single submitter
- MAFB p.Pro157Ser Uncertain significance Single submitter
- MAFB p.Pro171Ser Uncertain significance Single submitter
-
MAFB p.Ser114Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Ser304Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAFB p.Ser57Tyr Uncertain significance Single submitter
- MAFB p.Ser65Arg Uncertain significance Single submitter
-
MAFB p.Thr232Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAFB p.Thr271Ser Uncertain significance Single submitter
- MAFB p.Thr58Ile Uncertain significance Single submitter
- MAFB p.Thr76Ser Uncertain significance Single submitter
- MAFB p.Arg210Leu Uncertain significance No assertion criteria
Predictors split 36
The independent predictors disagree with each other — read with care.
-
MAFB p.Ala107Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAFB p.Glu19Gln
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
MAFB p.His135Gln
Uncertain significance
Multiple submitters
Duane retraction syndrome 3 with or without deafness
-
MAFB p.His165Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAFB p.Ser54Leu
Pathogenic
Multiple submitters
MAFB-related disorder
- MAFB p.Ala293Thr Uncertain significance Single submitter
- MAFB p.Arg128Leu Benign Single submitter
- MAFB p.Arg289His Uncertain significance Single submitter
- MAFB p.Arg307Thr Uncertain significance Single submitter
-
MAFB p.Arg48Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Asn22Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Asp209Gly
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Asp292Glu Uncertain significance Single submitter
- MAFB p.Asp30Ala Uncertain significance Single submitter
-
MAFB p.Cys46Arg
Conflicting
Single submitter
Inborn genetic diseases
-
MAFB p.Cys46Gly
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Glu299Asp Uncertain significance Single submitter
-
MAFB p.His131Gln
Conflicting
Single submitter
Inborn genetic diseases
- MAFB p.His132Tyr Uncertain significance Single submitter
- MAFB p.His134Tyr Uncertain significance Single submitter
-
MAFB p.His135Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.His140Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Ile274Thr
Uncertain significance
Single submitter
Brown syndrome
- MAFB p.Met18Thr Uncertain significance Single submitter
- MAFB p.Met95Lys Uncertain significance Single submitter
-
MAFB p.Phe321Leu
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Pro319Ser Uncertain significance Single submitter
-
MAFB p.Pro75Gln
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
- MAFB p.Pro97Ser Uncertain significance Single submitter
- MAFB p.Ser206Arg Uncertain significance Single submitter
-
MAFB p.Thr232Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Tyr257Asn
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Val21Ala
Uncertain significance
Single submitter
multicentric carpo-tarsal osteolysis with or without nephropathy
-
MAFB p.Val21Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAFB p.Gly113Arg
Uncertain significance
No assertion criteria
MAFB-related disorder
-
MAFB p.His136Tyr
Uncertain significance
No assertion criteria
MAFB-related disorder
All MAFB variants
Pathogenic 13
- p.Pro63Leu Multiple submitters MAFB-related disorder
- p.Ser54Leu Multiple submitters MAFB-related disorder ⚠
- p.Thr62Ala Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Asn268fs Single submitter Duane syndrome type 1
- p.Cys46fs Single submitter
- p.Gln215fs Single submitter Duane syndrome type 1
- p.Gly147fs Single submitter Duane syndrome type 1
- p.Pro63Ser Single submitter
- p.Pro71Leu Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ser170Ter Single submitter Inborn genetic diseases
- p.Thr62Ile Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ser70Ala No assertion criteria multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Thr62Pro No assertion criteria multicentric carpo-tarsal osteolysis with or without nephropathy
Pathogenic/Likely pathogenic 3
- p.Pro59Leu Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ser69Leu Multiple submitters MAFB-related disorder
- p.Ser70Leu Multiple submitters Inborn genetic diseases
Likely pathogenic 9
- p.Arg249Gly Single submitter MAFB-related disorder
- p.Gln261Ter Single submitter
- p.Glu4Gly Single submitter orofacial cleft 1
- p.Pro59Arg Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Pro68Leu Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Pro71Ser Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ser206fs Single submitter Duane retraction syndrome 3 with or without deafness
- p.Ser66Phe Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Thr58Arg Single submitter Carpal osteolysis
Conflicting classifications of pathogenicity 11
- p.Cys46Arg Single submitter Inborn genetic diseases ⚠
- p.Glu98Asp Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Gly189Arg Single submitter Inborn genetic diseases ⚠
- p.Gly205Ser Single submitter Inborn genetic diseases ⚠
- p.His131Gln Single submitter Inborn genetic diseases ⚠
- p.His193Gln Single submitter Inborn genetic diseases ⚠
- p.Pro63= Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ser114Pro Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Ser123Thr Single submitter Inborn genetic diseases ⚠
- p.Ser65Ile Single submitter MAFB-related disorder ⚠
- p.Val296Ile Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
Benign 20
- c.*155C>T Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*68G>A Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Arg249= Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-75C>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1019A>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1314A>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*152G>C Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1690G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1737A>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1849C>T Single submitter
- c.*2008T>A Single submitter
- p.Ala288= Single submitter
- p.Arg128Leu Single submitter ⚠
- p.Arg238= Single submitter
- p.Gly202Asp Single submitter
- p.Leu216= Single submitter
- p.Pro146Ala Single submitter
- p.Ser6Asn Single submitter
- p.Thr76= Single submitter
- c.-1G>T No assertion criteria MAFB-related disorder
Benign/Likely benign 3
- p.Gln181Leu Multiple submitters Duane retraction syndrome 3 with or without deafness
- p.Glu19Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu85Met Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
Likely benign 25
- c.*30C>A Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ala201= Multiple submitters
- p.Ala302Val Multiple submitters Inborn genetic diseases
- p.Ser304Ala Multiple submitters
- c.-206T>G Single submitter
- p.Ala107= Single submitter
- p.Ala176= Single submitter
- p.Ala2= Single submitter
- p.Ala39= Single submitter
- p.Asp213= Single submitter
- p.Asp314= Single submitter
- p.Cys46= Single submitter
- p.Leu273= Single submitter
- p.Phe24= Single submitter
- p.Pro141= Single submitter
- p.Pro157= Single submitter
- p.Pro190= Single submitter
- p.Ser114= Single submitter
- p.Ser90= Single submitter
- p.Thr103= Single submitter
- p.Thr58= Single submitter
- p.Val236= Single submitter
- c.*9C>T No assertion criteria MAFB-related disorder
- p.Arg38= No assertion criteria MAFB-related disorder
- p.Leu82= No assertion criteria MAFB-related disorder
Uncertain significance 150
- c.-77C>G Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ala107Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala110Glu Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Ala130Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala176Thr Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Ala288Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp153His Multiple submitters Duane retraction syndrome 3 with or without deafness ⚠
- p.Asp84Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly43Ser Multiple submitters multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.His135Gln Multiple submitters Duane retraction syndrome 3 with or without deafness ⚠
- p.His165Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His193Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro42Leu Multiple submitters Duane retraction syndrome 3 with or without deafness ⚠
- p.Pro75Ala Multiple submitters Inborn genetic diseases
- p.Ser206Asn Multiple submitters Duane retraction syndrome 3 with or without deafness ⚠
- p.Thr76Asn Multiple submitters Inborn genetic diseases ⚠
- p.Val150Met Multiple submitters Inborn genetic diseases ⚠
- c.-130C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-138G>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-171C>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-211A>C Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-222G>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-225C>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-338A>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-76C>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.-82T>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1019A>C Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1171A>C Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1210G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1226C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1255C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1433A>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1519C>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1519C>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1551G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1591T>C Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1679C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1751C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*175G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1787T>C Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*1803C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*209A>C Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*229A>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*309A>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*367G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*410G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*415G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*565C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*64C>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*791C>G Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*795G>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*881G>T Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- c.*976G>A Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ala144= Single submitter
- p.Ala151Val Single submitter ⚠
- p.Ala177Ser Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Ala180Glu Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Ala194_Ser206delinsGlyGlyGlu Single submitter
- p.Ala201Glu Single submitter Inborn genetic diseases ⚠
- p.Ala293Thr Single submitter ⚠
- p.Ala39Thr Single submitter Inborn genetic diseases ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg289His Single submitter ⚠
- p.Arg289Ser Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Arg307Thr Single submitter ⚠
- p.Arg38Gly Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Arg41Ser Single submitter
- p.Arg48Cys Single submitter Inborn genetic diseases ⚠
- p.Asn22Ser Single submitter Inborn genetic diseases ⚠
- p.Asp153= Single submitter
- p.Asp153_His158del Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Asp209= Single submitter
- p.Asp209Gly Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Asp292Glu Single submitter ⚠
- p.Asp30Ala Single submitter ⚠
- p.Cys255Arg Single submitter ⚠
- p.Cys46Gly Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Gln215Pro Single submitter ⚠
- p.Glu10Ala Single submitter Inborn genetic diseases ⚠
- p.Glu154Lys Single submitter
- p.Glu235= Single submitter
- p.Glu267Lys Single submitter Duane retraction syndrome 3 with or without deafness ⚠
- p.Glu267Val Single submitter 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
- p.Glu278Asp Single submitter ⚠
- p.Glu283Gln Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Glu299Asp Single submitter ⚠
- p.Gly129Ser Single submitter intellectual disability ⚠
- p.Gly149Ser Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Gly203Ser Single submitter ⚠
- p.Gly250Cys Single submitter ⚠
- p.Gly305Ala Single submitter ⚠
- p.Gly8Arg Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.His131Pro Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.His132Tyr Single submitter ⚠
- p.His133= Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.His134Pro Single submitter ⚠
- p.His134Tyr Single submitter ⚠
- p.His135Tyr Single submitter Inborn genetic diseases ⚠
- p.His140= Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.His140Gln Single submitter Inborn genetic diseases ⚠
- p.His165Arg Single submitter Inborn genetic diseases
- p.His193Pro Single submitter Inborn genetic diseases ⚠
- p.His81Gln Single submitter ⚠
- p.Ile274Thr Single submitter Brown syndrome ⚠
- p.Leu121Pro Single submitter ⚠
- p.Leu224Gln Single submitter Inborn genetic diseases ⚠
- p.Leu224Pro Single submitter Duane retraction syndrome 3 with or without deafness ⚠
- p.Leu36Val Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Leu60His Single submitter ⚠
- p.Lys295= Single submitter
- p.Lys297Met Single submitter ⚠
- p.Lys79= Single submitter
- p.Met18Thr Single submitter ⚠
- p.Met7_Gly8delinsIleArg Single submitter
- p.Met7Leu Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Met7Val Single submitter ⚠
- p.Met95Lys Single submitter ⚠
- p.Phe321Leu Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Pro146Leu Single submitter Inborn genetic diseases ⚠
- p.Pro146Thr Single submitter ⚠
- p.Pro157Ser Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro319Ser Single submitter ⚠
- p.Pro51= Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Pro75Gln Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Pro97Ser Single submitter ⚠
- p.Ser114Leu Single submitter Inborn genetic diseases ⚠
- p.Ser175Arg Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Ser206Arg Single submitter ⚠
- p.Ser304Cys Single submitter Inborn genetic diseases ⚠
- p.Ser54= Single submitter
- p.Ser57Tyr Single submitter ⚠
- p.Ser65Arg Single submitter ⚠
- p.Ter324Arg Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy
- p.Thr13= Single submitter
- p.Thr195= Single submitter
- p.Thr232Ala Single submitter Inborn genetic diseases ⚠
- p.Thr232Ser Single submitter Inborn genetic diseases ⚠
- p.Thr271Ser Single submitter ⚠
- p.Thr47= Single submitter
- p.Thr58Ile Single submitter ⚠
- p.Thr76Ser Single submitter ⚠
- p.Tyr257Asn Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Val21Ala Single submitter multicentric carpo-tarsal osteolysis with or without nephropathy ⚠
- p.Val21Gly Single submitter Inborn genetic diseases ⚠
- p.Val296= Single submitter
- p.Arg210Leu No assertion criteria ⚠
- p.Glu4Ala No assertion criteria MAFB-related disorder
- p.Gly113Arg No assertion criteria MAFB-related disorder ⚠
- p.His136Tyr No assertion criteria MAFB-related disorder ⚠