MMAB — 565 ClinVar variants
All ClinVar germline MMAB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
45 Pathogenic · 17 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 24 Conflicting · 55 Benign · 6 Benign/Likely benign · 201 Likely benign · 174 Uncertain significance
Full MMAB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MMAB p.Arg191Gln
Pathogenic
Multiple submitters
Inborn genetic diseases
-
MMAB p.Val188Met
Pathogenic/Likely pathogenic
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Ile96Thr
Likely pathogenic
Single submitter
methylmalonic aciduria, cblB type
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MMAB p.Ala207Val
Conflicting
Single submitter
Inborn genetic diseases
-
MMAB p.Arg195His
Conflicting
Single submitter
methylmalonic acidemia
-
MMAB p.Arg31Cys
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Cys132Arg
Conflicting
Single submitter
Inborn genetic diseases
-
MMAB p.Cys4Arg
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.His183Leu
Conflicting
Single submitter
methylmalonic aciduria, cblB type
Predictors lean, ClinVar uncertain 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MMAB p.Ala129Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Ala181Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Ala85Val
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Arg136Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Arg15Cys
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Arg195Cys
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Asp218Glu
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Cys21Ser
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Glu235Lys
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Gly23Asp
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Leu27Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Leu6Val
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Lys106Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Lys116Glu
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Lys230Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Met229Val
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Pro30Ser
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Pro53Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Ser244Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Thr168Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Tyr142His
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Tyr142Ser
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Ala127Thr
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ala169Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Ala181Thr
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ala207Glu
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ala2Val
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
- MMAB p.Ala95Ser Uncertain significance Single submitter
-
MMAB p.Arg186Gly
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Arg190Leu
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
- MMAB p.Arg190Pro Uncertain significance Single submitter
-
MMAB p.Arg194Ser
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Arg45Lys
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Arg54Lys
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Arg9Cys
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Asp218Asn
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Asp79Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Cys185Tyr
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Gln115His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Gln81Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Glu248Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Glu84Lys
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
- MMAB p.Gly11Arg Uncertain significance Single submitter
- MMAB p.Gly87Val Uncertain significance Single submitter
-
MMAB p.Ile157Phe
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Leu12Pro
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Leu164Phe
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Leu220Pro
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Leu223Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Lys141Arg
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Lys159Gln
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Met202Val
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Phe22Leu
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Phe67Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Phe83Leu
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Phe83Ser
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Pro56Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MMAB p.Ser217Arg Uncertain significance Single submitter
-
MMAB p.Ser50Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Thr109Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MMAB p.Thr109Ile
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Thr144Ala
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Val124Ile
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Val197Ala
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Val3Met
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Val86Met
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ala227Gly
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
-
MMAB p.Cys119Arg
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
-
MMAB p.Gln38Leu
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
-
MMAB p.Gly39Asp
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
-
MMAB p.Ile237Val
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
-
MMAB p.Lys159Glu
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
-
MMAB p.Thr72Ile
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
Predictors split 28
The independent predictors disagree with each other — read with care.
-
MMAB p.Asp158Asn
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Gly5Asp
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Ser134Leu
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Ser14Asn
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Thr62Ala
Uncertain significance
Multiple submitters
methylmalonic aciduria, cblB type
-
MMAB p.Thr62Met
Benign/Likely benign
Multiple submitters
mevalonic aciduria
-
MMAB p.Val197Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MMAB p.Ala135Thr
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ala181Gly
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ala228Val
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Arg136Trp
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Arg15His
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Asp123Asn
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Asp206Asn
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Gly125Ser
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
- MMAB p.His108Arg Uncertain significance Single submitter
-
MMAB p.Ile171Val
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Leu10Ile
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Leu18Met
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Pro198Leu
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ser126Leu
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ser133Phe
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ser180Leu
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Ser69Thr
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Thr222Met
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Tyr219Cys
Conflicting
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Tyr226His
Uncertain significance
Single submitter
methylmalonic aciduria, cblB type
-
MMAB p.Asp80Asn
Uncertain significance
No assertion criteria
methylmalonic aciduria, cblB type
All MMAB variants
Pathogenic 45
- c.197-1G>T Multiple submitters Methylmalonic aciduria
- c.291-1G>A Multiple submitters methylmalonic acidemia
- p.Arg190His Multiple submitters methylmalonic acidemia
- p.Arg191Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg191Trp Multiple submitters Inborn genetic diseases
- p.Asp123fs Multiple submitters methylmalonic aciduria, cblB type
- p.Cys4Ter Multiple submitters methylmalonic acidemia
- p.Gln234Ter Multiple submitters MMAB-related disorder
- p.Gln47Ter Multiple submitters methylmalonic aciduria, cblB type
- p.Glu74Ter Multiple submitters methylmalonic aciduria, cblB type
- p.Gly175Ter Multiple submitters MMAB-related disorder
- p.Tyr219fs Multiple submitters methylmalonic aciduria, cblB type
- c.135-1G>A Single submitter methylmalonic aciduria, cblB type
- c.197-1G>A Single submitter methylmalonic aciduria, cblB type
- c.585-2A>C Single submitter methylmalonic aciduria, cblB type
- p.Arg186fs Single submitter methylmalonic aciduria, cblB type
- p.Arg190Gly Single submitter
- p.Arg19Ter Single submitter methylmalonic aciduria, cblB type
- p.Cys189fs Single submitter methylmalonic aciduria, cblB type
- p.Cys21fs Single submitter methylmalonic aciduria, cblB type
- p.Gln155fs Single submitter methylmalonic aciduria, cblB type
- p.Gln155Ter Single submitter methylmalonic aciduria, cblB type
- p.Glu112Ter Single submitter methylmalonic aciduria, cblB type
- p.Glu154Ter Single submitter methylmalonic aciduria, cblB type
- p.Gly39fs Single submitter methylmalonic aciduria, cblB type
- p.Leu182fs Single submitter methylmalonic aciduria, cblB type
- p.Leu213Ter Single submitter methylmalonic aciduria, cblB type
- p.Met1Leu Single submitter methylmalonic aciduria, cblB type
- p.Met1Lys Single submitter methylmalonic aciduria, cblB type
- p.Phe110fs Single submitter methylmalonic aciduria, cblB type
- p.Ser217fs Single submitter methylmalonic aciduria, cblB type
- p.Thr89fs Single submitter methylmalonic aciduria, cblB type
- p.Trp156Ter Single submitter methylmalonic aciduria, cblB type
- p.Val200fs Single submitter methylmalonic aciduria, cblB type
- c.291-1G>T No assertion criteria methylmalonic aciduria, cblB type
- c.348+2_348+3del No assertion criteria methylmalonic aciduria, cblB type
- p.Ala187_Val188insAlaArgAla No assertion criteria methylmalonic aciduria, cblB type
- p.Ala187fs No assertion criteria methylmalonic aciduria, cblB type
- p.Arg195fs No assertion criteria methylmalonic aciduria, cblB type
- p.Gln163Ter No assertion criteria methylmalonic aciduria, cblB type
- p.Glu154Asp No assertion criteria methylmalonic aciduria, cblB type
- p.Ser217Ile No assertion criteria methylmalonic aciduria, cblB type
- p.Ser8fs No assertion criteria methylmalonic aciduria, cblB type
- p.Tyr29Ter No assertion criteria methylmalonic aciduria, cblB type
- p.Val188Gly No assertion criteria methylmalonic aciduria, cblB type
Pathogenic/Likely pathogenic 17
- c.349-1G>C Multiple submitters methylmalonic aciduria, cblB type
- p.Ala192fs Multiple submitters methylmalonic aciduria, cblB type
- p.Arg186Gln Multiple submitters methylmalonic aciduria, cblB type
- p.Arg186Trp Multiple submitters Inborn genetic diseases
- p.Arg190Cys Multiple submitters methylmalonic aciduria, cblB type
- p.Arg194Gly Multiple submitters methylmalonic aciduria, cblB type
- p.Cys119Ter Multiple submitters methylmalonic aciduria, cblB type
- p.Glu152Ter Multiple submitters methylmalonic aciduria, cblB type
- p.Glu193Lys Multiple submitters methylmalonic aciduria, cblB type
- p.Glu231Ter Multiple submitters methylmalonic aciduria, cblB type
- p.Gly97Glu Multiple submitters methylmalonic aciduria, cblB type
- p.Met1Thr Multiple submitters methylmalonic aciduria, cblB type
- p.Phe221fs Multiple submitters methylmalonic aciduria, cblB type
- p.Val188_Ala192del Multiple submitters methylmalonic aciduria, cblB type
- p.Val188_Ala192dup Multiple submitters methylmalonic acidemia
- p.Val188Met Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Val209Met Multiple submitters methylmalonic acidemia
Likely pathogenic 43
- c.290+1G>A Multiple submitters methylmalonic aciduria, cblB type
- c.584+2T>C Multiple submitters methylmalonic aciduria, cblB type
- p.Arg186Pro Multiple submitters methylmalonic aciduria, cblB type
- p.Arg191dup Multiple submitters methylmalonic acidemia
- p.Arg194fs Multiple submitters methylmalonic aciduria, cblB type
- p.Cys21Ter Multiple submitters methylmalonic aciduria, cblB type
- p.Met1Arg Multiple submitters methylmalonic aciduria, cblB type
- p.Ser174Leu Multiple submitters methylmalonic aciduria, cblB type
- c.134+1G>T Single submitter methylmalonic aciduria, cblB type
- c.134+2T>A Single submitter methylmalonic aciduria, cblB type
- c.196+1G>T Single submitter methylmalonic aciduria, cblB type
- c.197-2A>G Single submitter methylmalonic aciduria, cblB type
- c.421+1G>A Single submitter methylmalonic aciduria, cblB type
- c.422-1G>A Single submitter methylmalonic aciduria, cblB type
- c.422-1G>C Single submitter methylmalonic aciduria, cblB type
- c.519+1G>A Single submitter methylmalonic aciduria, cblB type
- c.519+1G>C Single submitter methylmalonic aciduria, cblB type
- c.520-1G>A Single submitter methylmalonic aciduria, cblB type
- c.584+2T>A Single submitter methylmalonic aciduria, cblB type
- c.644+1G>A Single submitter methylmalonic aciduria, cblB type
- p.Ala127Asp Single submitter methylmalonic aciduria, cblB type
- p.Arg191fs Single submitter methylmalonic aciduria, cblB type
- p.Arg191Gly Single submitter methylmalonic aciduria, cblB type
- p.Arg191Pro Single submitter methylmalonic aciduria, cblB type
- p.Arg76fs Single submitter methylmalonic aciduria, cblB type
- p.Cys185fs Single submitter methylmalonic aciduria, cblB type
- p.Gln201fs Single submitter methylmalonic aciduria, cblB type
- p.Gln38Ter Single submitter methylmalonic aciduria, cblB type
- p.Glu193Ter Single submitter methylmalonic aciduria, cblB type
- p.Gly11fs Single submitter methylmalonic aciduria, cblB type
- p.Gly13fs Single submitter methylmalonic aciduria, cblB type
- p.Gly20fs Single submitter methylmalonic aciduria, cblB type
- p.Ile96Thr Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ser174fs Single submitter methylmalonic aciduria, cblB type
- p.Ser180Ter Single submitter methylmalonic aciduria, cblB type
- p.Thr168fs Single submitter methylmalonic aciduria, cblB type
- p.Val82fs Single submitter methylmalonic aciduria, cblB type
- c.197-2del No assertion criteria methylmalonic aciduria, cblB type
- c.583_584+18del No assertion criteria methylmalonic aciduria, cblB type
- p.Glu193fs No assertion criteria methylmalonic aciduria, cblB type
- p.Glu193Gln No assertion criteria methylmalonic aciduria, cblB type
- p.Gly36fs No assertion criteria methylmalonic aciduria, cblB type
- p.Val196fs No assertion criteria methylmalonic aciduria, cblB type
Conflicting classifications of pathogenicity 24
- c.519+10G>A Single submitter methylmalonic aciduria, cblB type
- c.584+15G>A Single submitter methylmalonic aciduria, cblB type
- c.585-16T>A Single submitter methylmalonic aciduria, cblB type
- c.644+7G>A Single submitter methylmalonic aciduria, cblB type
- c.-4G>C Single submitter methylmalonic aciduria, cblB type
- p.Ala111= Single submitter methylmalonic aciduria, cblB type
- p.Ala129= Single submitter methylmalonic aciduria, cblB type
- p.Ala135Thr Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ala187= Single submitter methylmalonic aciduria, cblB type
- p.Ala207Val Single submitter Inborn genetic diseases ⚠
- p.Arg195His Single submitter methylmalonic acidemia ⚠
- p.Arg31Cys Single submitter methylmalonic aciduria, cblB type ⚠
- p.Cys132Arg Single submitter Inborn genetic diseases ⚠
- p.Cys4Arg Single submitter methylmalonic aciduria, cblB type ⚠
- p.Gln33= Single submitter methylmalonic aciduria, cblB type
- p.His183Leu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Leu18Met Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ser126Leu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ser133Phe Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ser174= Single submitter methylmalonic aciduria, cblB type
- p.Ser50= Single submitter methylmalonic aciduria, cblB type
- p.Thr222Met Single submitter methylmalonic aciduria, cblB type ⚠
- p.Tyr219Cys Single submitter methylmalonic aciduria, cblB type ⚠
- p.Tyr226= Single submitter methylmalonic aciduria, cblB type
Benign 55
- c.290+204C>T Multiple submitters
- c.290+63T>C Multiple submitters methylmalonic aciduria, cblB type
- c.348+105T>C Multiple submitters methylmalonic aciduria, cblB type
- c.348+147G>A Multiple submitters
- c.348+177C>T Multiple submitters
- c.519+157C>T Multiple submitters
- c.520-128C>T Multiple submitters
- c.520-139G>A Multiple submitters
- c.520-96C>T Multiple submitters
- c.584+254A>G Multiple submitters methylmalonic aciduria, cblB type
- c.585-174G>A Multiple submitters
- c.645-156T>C Multiple submitters
- c.*1005A>G Multiple submitters methylmalonic aciduria, cblB type
- c.*1230G>T Multiple submitters methylmalonic aciduria, cblB type
- c.*1467C>T Multiple submitters methylmalonic aciduria, cblB type
- c.*1535G>A Multiple submitters methylmalonic aciduria, cblB type
- c.*1657G>A Multiple submitters methylmalonic aciduria, cblB type
- c.*1729A>C Multiple submitters methylmalonic aciduria, cblB type
- c.*1810G>A Multiple submitters methylmalonic aciduria, cblB type
- c.*192T>C Multiple submitters methylmalonic aciduria, cblB type
- c.*1952T>C Multiple submitters methylmalonic aciduria, cblB type
- c.*2628C>T Multiple submitters methylmalonic aciduria, cblB type
- c.*2684G>C Multiple submitters methylmalonic aciduria, cblB type
- c.*2701G>C Multiple submitters methylmalonic aciduria, cblB type
- c.*2835T>C Multiple submitters methylmalonic aciduria, cblB type
- c.*3148G>A Multiple submitters methylmalonic aciduria, cblB type
- c.*3178C>A Multiple submitters methylmalonic aciduria, cblB type
- c.*376T>A Multiple submitters methylmalonic aciduria, cblB type
- c.*378T>A Multiple submitters methylmalonic aciduria, cblB type
- c.*380A>T Multiple submitters methylmalonic aciduria, cblB type
- c.*564G>C Multiple submitters methylmalonic aciduria, cblB type
- c.*625G>C Multiple submitters methylmalonic aciduria, cblB type
- c.*656C>A Multiple submitters methylmalonic aciduria, cblB type
- c.*721T>G Multiple submitters methylmalonic aciduria, cblB type
- c.*857G>C Multiple submitters methylmalonic aciduria, cblB type
- c.*891C>A Multiple submitters methylmalonic aciduria, cblB type
- p.Arg19Gln Multiple submitters methylmalonic aciduria, cblB type
- p.Arg19His Multiple submitters methylmalonic aciduria, cblB type
- p.Met239Lys Multiple submitters methylmalonic aciduria, cblB type
- c.134+286T>C Single submitter
- c.135-241T>C Single submitter
- c.135-38dup Single submitter
- c.196+279A>C Single submitter
- c.197-146C>A Single submitter
- c.291-16del Single submitter methylmalonic aciduria, cblB type
- c.349-207A>G Single submitter
- c.349-8dup Single submitter methylmalonic aciduria, cblB type
- c.584+251G>A Single submitter
- c.585-203T>C Single submitter
- c.585-204G>A Single submitter
- c.585-262G>A Single submitter
- c.644+212C>T Single submitter
- c.644+213G>A Single submitter
- c.645-247G>A Single submitter
- c.*374T>A Single submitter methylmalonic aciduria, cblB type
Benign/Likely benign 6
- c.135-23T>C Multiple submitters methylmalonic aciduria, cblB type
- c.349-17T>C Multiple submitters methylmalonic aciduria, cblB type
- c.584+24A>G Multiple submitters methylmalonic aciduria, cblB type
- p.Asn208= Multiple submitters methylmalonic aciduria, cblB type
- p.Ile96= Multiple submitters methylmalonic aciduria, cblB type
- p.Thr62Met Multiple submitters mevalonic aciduria ⚠
Likely benign 201
- c.421+14T>A Multiple submitters methylmalonic aciduria, cblB type
- c.519+98C>T Multiple submitters
- c.520-127G>A Multiple submitters
- c.585-127C>T Multiple submitters
- c.-9G>T Multiple submitters methylmalonic aciduria, cblB type
- c.*1409G>A Multiple submitters methylmalonic aciduria, cblB type
- p.Ser134= Multiple submitters methylmalonic aciduria, cblB type
- p.Ser180= Multiple submitters methylmalonic aciduria, cblB type
- p.Thr205= Multiple submitters methylmalonic aciduria, cblB type
- p.Gly36= Single submitter methylmalonic aciduria, cblB type
- c.134+10T>G Single submitter methylmalonic aciduria, cblB type
- c.134+14G>A Single submitter methylmalonic aciduria, cblB type
- c.134+16del Single submitter methylmalonic aciduria, cblB type
- c.134+16G>A Single submitter methylmalonic aciduria, cblB type
- c.134+203A>G Single submitter
- c.134+20G>A Single submitter methylmalonic aciduria, cblB type
- c.134+7G>A Single submitter methylmalonic aciduria, cblB type
- c.134+9C>T Single submitter methylmalonic aciduria, cblB type
- c.135-12A>T Single submitter methylmalonic aciduria, cblB type
- c.135-17T>C Single submitter methylmalonic aciduria, cblB type
- c.135-19G>A Single submitter methylmalonic aciduria, cblB type
- c.135-19G>T Single submitter methylmalonic aciduria, cblB type
- c.135-4T>C Single submitter methylmalonic aciduria, cblB type
- c.135-8C>T Single submitter methylmalonic aciduria, cblB type
- c.196+13C>G Single submitter methylmalonic aciduria, cblB type
- c.196+17T>G Single submitter methylmalonic aciduria, cblB type
- c.196+9G>A Single submitter methylmalonic aciduria, cblB type
- c.197-11T>C Single submitter
- c.197-12T>C Single submitter methylmalonic aciduria, cblB type
- c.197-14A>G Single submitter methylmalonic aciduria, cblB type
- c.197-15C>A Single submitter methylmalonic aciduria, cblB type
- c.197-7T>C Single submitter methylmalonic aciduria, cblB type
- c.290+12A>G Single submitter methylmalonic aciduria, cblB type
- c.290+19G>T Single submitter methylmalonic aciduria, cblB type
- c.290+7G>C Single submitter methylmalonic aciduria, cblB type
- c.290+8G>T Single submitter methylmalonic aciduria, cblB type
- c.291-15C>G Single submitter methylmalonic aciduria, cblB type
- c.291-18T>C Single submitter methylmalonic aciduria, cblB type
- c.291-3dup Single submitter methylmalonic aciduria, cblB type
- c.291-5C>G Single submitter methylmalonic aciduria, cblB type
- c.291-7T>G Single submitter methylmalonic aciduria, cblB type
- c.291-8C>T Single submitter methylmalonic aciduria, cblB type
- c.348+10_348+13del Single submitter methylmalonic aciduria, cblB type
- c.348+11C>T Single submitter methylmalonic aciduria, cblB type
- c.348+17C>T Single submitter methylmalonic aciduria, cblB type
- c.348+19C>T Single submitter
- c.348+20C>G Single submitter methylmalonic aciduria, cblB type
- c.348+7A>G Single submitter methylmalonic aciduria, cblB type
- c.348+9C>T Single submitter methylmalonic aciduria, cblB type
- c.349-10C>T Single submitter methylmalonic aciduria, cblB type
- c.349-14C>G Single submitter methylmalonic aciduria, cblB type
- c.349-20C>T Single submitter methylmalonic aciduria, cblB type
- c.349-4C>G Single submitter methylmalonic aciduria, cblB type
- c.349-5C>G Single submitter methylmalonic aciduria, cblB type
- c.349-5C>T Single submitter methylmalonic aciduria, cblB type
- c.349-6C>T Single submitter methylmalonic aciduria, cblB type
- c.349-8C>A Single submitter methylmalonic aciduria, cblB type
- c.349-8C>G Single submitter methylmalonic aciduria, cblB type
- c.349-8C>T Single submitter methylmalonic aciduria, cblB type
- c.349-9G>A Single submitter methylmalonic aciduria, cblB type
- c.349-9G>C Single submitter methylmalonic aciduria, cblB type
- c.421+16C>A Single submitter methylmalonic aciduria, cblB type
- c.421+18G>C Single submitter methylmalonic aciduria, cblB type
- c.421+7C>A Single submitter methylmalonic aciduria, cblB type
- c.422-19del Single submitter methylmalonic aciduria, cblB type
- c.422-5_422-3del Single submitter methylmalonic aciduria, cblB type
- c.422-6C>T Single submitter methylmalonic aciduria, cblB type
- c.519+13C>T Single submitter methylmalonic aciduria, cblB type
- c.519+16G>A Single submitter methylmalonic aciduria, cblB type
- c.519+17C>T Single submitter methylmalonic aciduria, cblB type
- c.519+19T>A Single submitter methylmalonic aciduria, cblB type
- c.520-15C>T Single submitter methylmalonic aciduria, cblB type
- c.520-18G>A Single submitter methylmalonic aciduria, cblB type
- c.520-19T>C Single submitter methylmalonic aciduria, cblB type
- c.520-20A>G Single submitter methylmalonic aciduria, cblB type
- c.520-4T>C Single submitter methylmalonic aciduria, cblB type
- c.584+12G>A Single submitter methylmalonic aciduria, cblB type
- c.584+14_584+33del Single submitter methylmalonic aciduria, cblB type
- c.584+51A>G Single submitter
- c.584+8G>C Single submitter methylmalonic aciduria, cblB type
- c.584+9G>C Single submitter methylmalonic aciduria, cblB type
- c.585-10C>T Single submitter methylmalonic aciduria, cblB type
- c.585-12C>T Single submitter methylmalonic aciduria, cblB type
- c.585-16T>C Single submitter methylmalonic aciduria, cblB type
- c.585-17G>A Single submitter methylmalonic aciduria, cblB type
- c.585-18T>C Single submitter methylmalonic aciduria, cblB type
- c.585-4C>G Single submitter methylmalonic aciduria, cblB type
- c.585-9C>T Single submitter methylmalonic aciduria, cblB type
- c.644+14A>C Single submitter methylmalonic aciduria, cblB type
- c.644+17T>C Single submitter methylmalonic aciduria, cblB type
- c.644+60GCAGCGGT[3] Single submitter
- c.644+72C>T Single submitter
- c.644+7dup Single submitter methylmalonic aciduria, cblB type
- c.644+8C>T Single submitter methylmalonic aciduria, cblB type
- c.644+9G>A Single submitter methylmalonic aciduria, cblB type
- c.645-16C>A Single submitter methylmalonic aciduria, cblB type
- c.645-20CT[6] Single submitter methylmalonic aciduria, cblB type
- c.645-4C>T Single submitter
- c.645-6C>T Single submitter methylmalonic aciduria, cblB type
- c.645-7C>T Single submitter methylmalonic aciduria, cblB type
- c.645-8C>G Single submitter methylmalonic aciduria, cblB type
- c.645-8C>T Single submitter methylmalonic aciduria, cblB type
- c.-30G>T Single submitter
- c.-7C>G Single submitter
- c.*2186T>C Single submitter methylmalonic aciduria, cblB type
- c.*368T>A Single submitter
- c.*404T>G Single submitter methylmalonic aciduria, cblB type
- p.Ala127= Single submitter methylmalonic aciduria, cblB type
- p.Ala135= Single submitter methylmalonic aciduria, cblB type
- p.Ala138= Single submitter methylmalonic aciduria, cblB type
- p.Ala147= Single submitter methylmalonic aciduria, cblB type
- p.Ala169= Single submitter methylmalonic aciduria, cblB type
- p.Ala181= Single submitter methylmalonic aciduria, cblB type
- p.Ala192= Single submitter methylmalonic aciduria, cblB type
- p.Ala2= Single submitter methylmalonic aciduria, cblB type
- p.Ala207= Single submitter methylmalonic aciduria, cblB type
- p.Ala245= Single submitter methylmalonic aciduria, cblB type
- p.Ala85= Single submitter methylmalonic aciduria, cblB type
- p.Ala99= Single submitter methylmalonic aciduria, cblB type
- p.Arg136= Single submitter methylmalonic aciduria, cblB type
- p.Arg186= Single submitter methylmalonic aciduria, cblB type
- p.Arg19= Single submitter methylmalonic aciduria, cblB type
- p.Arg190= Single submitter methylmalonic aciduria, cblB type
- p.Arg191= Single submitter methylmalonic aciduria, cblB type
- p.Arg35= Single submitter methylmalonic aciduria, cblB type
- p.Arg75= Single submitter methylmalonic aciduria, cblB type
- p.Arg9= Single submitter methylmalonic aciduria, cblB type
- p.Asp123= Single submitter methylmalonic aciduria, cblB type
- p.Asp206= Single submitter methylmalonic aciduria, cblB type
- p.Asp42= Single submitter methylmalonic aciduria, cblB type
- p.Asp44= Single submitter methylmalonic aciduria, cblB type
- p.Asp80= Single submitter methylmalonic aciduria, cblB type
- p.Cys185= Single submitter methylmalonic aciduria, cblB type
- p.Gln155= Single submitter methylmalonic aciduria, cblB type
- p.Gln234= Single submitter methylmalonic aciduria, cblB type
- p.Gln81= Single submitter methylmalonic aciduria, cblB type
- p.Glu112Lys Single submitter Inborn genetic diseases
- p.Glu152= Single submitter methylmalonic aciduria, cblB type
- p.Glu193= Single submitter methylmalonic aciduria, cblB type
- p.Glu235= Single submitter methylmalonic aciduria, cblB type
- p.Glu74= Single submitter methylmalonic aciduria, cblB type
- p.Gly107= Single submitter methylmalonic aciduria, cblB type
- p.Gly11= Single submitter methylmalonic aciduria, cblB type
- p.Gly13= Single submitter methylmalonic aciduria, cblB type
- p.Gly148= Single submitter methylmalonic aciduria, cblB type
- p.Gly175= Single submitter methylmalonic aciduria, cblB type
- p.Gly20= Single submitter methylmalonic aciduria, cblB type
- p.Gly232= Single submitter methylmalonic aciduria, cblB type
- p.Gly36= Single submitter methylmalonic aciduria, cblB type
- p.Gly63= Single submitter methylmalonic aciduria, cblB type
- p.Gly7= Single submitter methylmalonic aciduria, cblB type
- p.Gly73= Single submitter methylmalonic aciduria, cblB type
- p.His139= Single submitter methylmalonic aciduria, cblB type
- p.His183= Single submitter
- p.Ile157= Single submitter methylmalonic aciduria, cblB type
- p.Ile171= Single submitter methylmalonic aciduria, cblB type
- p.Ile55= Single submitter methylmalonic aciduria, cblB type
- p.Leu10= Single submitter methylmalonic aciduria, cblB type
- p.Leu100= Single submitter methylmalonic aciduria, cblB type
- p.Leu114= Single submitter methylmalonic aciduria, cblB type
- p.Leu140= Single submitter methylmalonic aciduria, cblB type
- p.Leu151= Single submitter methylmalonic aciduria, cblB type
- p.Leu153= Single submitter methylmalonic aciduria, cblB type
- p.Leu164= Single submitter methylmalonic aciduria, cblB type
- p.Leu172= Single submitter methylmalonic aciduria, cblB type
- p.Leu18= Single submitter methylmalonic aciduria, cblB type
- p.Leu199= Single submitter methylmalonic aciduria, cblB type
- p.Leu220= Single submitter methylmalonic aciduria, cblB type
- p.Leu28= Single submitter methylmalonic aciduria, cblB type
- p.Leu6= Single submitter methylmalonic aciduria, cblB type
- p.Lys141= Single submitter methylmalonic aciduria, cblB type
- p.Lys159= Single submitter methylmalonic aciduria, cblB type
- p.Lys211= Single submitter methylmalonic aciduria, cblB type
- p.Phe110= Single submitter methylmalonic aciduria, cblB type
- p.Phe22= Single submitter methylmalonic aciduria, cblB type
- p.Phe98= Single submitter methylmalonic aciduria, cblB type
- p.Pro243= Single submitter methylmalonic aciduria, cblB type
- p.Pro37= Single submitter methylmalonic aciduria, cblB type
- p.Pro48= Single submitter methylmalonic aciduria, cblB type
- p.Pro56= Single submitter methylmalonic aciduria, cblB type
- p.Ser126= Single submitter methylmalonic aciduria, cblB type
- p.Ser14= Single submitter methylmalonic aciduria, cblB type
- p.Ser244= Single submitter methylmalonic aciduria, cblB type
- p.Ser34= Single submitter methylmalonic aciduria, cblB type
- p.Ser49= Single submitter methylmalonic aciduria, cblB type
- p.Ser69Asn Single submitter methylmalonic aciduria, cblB type
- p.Ser8= Single submitter methylmalonic aciduria, cblB type
- p.Ser94= Single submitter methylmalonic aciduria, cblB type
- p.Thr104= Single submitter methylmalonic aciduria, cblB type
- p.Thr109= Single submitter methylmalonic aciduria, cblB type
- p.Thr120= Single submitter methylmalonic aciduria, cblB type
- p.Thr144= Single submitter methylmalonic aciduria, cblB type
- p.Thr161= Single submitter methylmalonic aciduria, cblB type
- p.Thr222= Single submitter methylmalonic aciduria, cblB type
- p.Thr62= Single submitter methylmalonic aciduria, cblB type
- p.Tyr142= Single submitter methylmalonic aciduria, cblB type
- p.Tyr59= Single submitter methylmalonic aciduria, cblB type
- p.Val124= Single submitter methylmalonic aciduria, cblB type
- p.Val188= Single submitter methylmalonic aciduria, cblB type
- p.Val197= Single submitter methylmalonic aciduria, cblB type
- p.Val86= Single submitter methylmalonic aciduria, cblB type
Uncertain significance 174
- c.584+6A>G Multiple submitters Inborn genetic diseases
- c.644+6C>T Multiple submitters methylmalonic aciduria, cblB type
- p.7GSRLGL[1] Multiple submitters methylmalonic aciduria, cblB type
- p.Ala129Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala181Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala85Val Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Arg136Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg15Cys Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Arg195Cys Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Asp158Asn Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Asp218Glu Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Cys21Ser Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Glu235Lys Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Glu74Asp Multiple submitters methylmalonic aciduria, cblB type
- p.Gly23Asp Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Gly5Asp Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Leu27Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu6Val Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Lys106Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys116Glu Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Lys230Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met229Val Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Pro30Ser Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Pro53Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser134Leu Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Ser14Asn Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Ser244Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr168Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr62Ala Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Tyr142His Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Tyr142Ser Multiple submitters methylmalonic aciduria, cblB type ⚠
- p.Val197Leu Multiple submitters Inborn genetic diseases ⚠
- c.290+1756C>G Single submitter methylmalonic aciduria, cblB type
- c.290+3A>G Single submitter methylmalonic aciduria, cblB type
- c.290+5G>A Single submitter methylmalonic aciduria, cblB type
- c.348+3_348+6del Single submitter
- c.584+4A>T Single submitter methylmalonic aciduria, cblB type
- c.644+165G>A Single submitter methylmalonic aciduria, cblB type
- c.644+4C>G Single submitter methylmalonic aciduria, cblB type
- c.-11C>G Single submitter mevalonic aciduria
- c.*1067C>T Single submitter methylmalonic aciduria, cblB type
- c.*1088A>T Single submitter methylmalonic aciduria, cblB type
- c.*1121C>T Single submitter methylmalonic aciduria, cblB type
- c.*1400G>A Single submitter methylmalonic aciduria, cblB type
- c.*1428C>T Single submitter methylmalonic aciduria, cblB type
- c.*1482C>T Single submitter methylmalonic aciduria, cblB type
- c.*1576_*1578del Single submitter
- c.*1577_*1578del Single submitter
- c.*1683G>A Single submitter methylmalonic aciduria, cblB type
- c.*1685G>A Single submitter methylmalonic aciduria, cblB type
- c.*1689C>T Single submitter methylmalonic aciduria, cblB type
- c.*1747A>G Single submitter methylmalonic aciduria, cblB type
- c.*1748_*1752dup Single submitter
- c.*1988C>T Single submitter methylmalonic aciduria, cblB type
- c.*2023C>T Single submitter methylmalonic aciduria, cblB type
- c.*2051C>T Single submitter methylmalonic aciduria, cblB type
- c.*2053C>T Single submitter methylmalonic aciduria, cblB type
- c.*2150A>G Single submitter methylmalonic aciduria, cblB type
- c.*2326C>G Single submitter methylmalonic aciduria, cblB type
- c.*2342G>A Single submitter methylmalonic aciduria, cblB type
- c.*2392C>T Single submitter methylmalonic aciduria, cblB type
- c.*2503G>A Single submitter methylmalonic aciduria, cblB type
- c.*2619A>T Single submitter methylmalonic aciduria, cblB type
- c.*2636A>G Single submitter methylmalonic aciduria, cblB type
- c.*2679G>C Single submitter methylmalonic aciduria, cblB type
- c.*2736G>C Single submitter methylmalonic aciduria, cblB type
- c.*2739C>T Single submitter methylmalonic aciduria, cblB type
- c.*2740G>A Single submitter methylmalonic aciduria, cblB type
- c.*2783G>A Single submitter methylmalonic aciduria, cblB type
- c.*2890C>T Single submitter methylmalonic aciduria, cblB type
- c.*2913C>T Single submitter methylmalonic aciduria, cblB type
- c.*2914G>A Single submitter methylmalonic aciduria, cblB type
- c.*3019A>G Single submitter methylmalonic aciduria, cblB type
- c.*301C>T Single submitter methylmalonic aciduria, cblB type
- c.*3027T>C Single submitter methylmalonic aciduria, cblB type
- c.*3043T>G Single submitter methylmalonic aciduria, cblB type
- c.*3074C>T Single submitter methylmalonic aciduria, cblB type
- c.*3142G>A Single submitter methylmalonic aciduria, cblB type
- c.*3152A>T Single submitter methylmalonic aciduria, cblB type
- c.*3260G>A Single submitter methylmalonic aciduria, cblB type
- c.*3265A>G Single submitter methylmalonic aciduria, cblB type
- c.*3295C>T Single submitter methylmalonic aciduria, cblB type
- c.*3296G>A Single submitter methylmalonic aciduria, cblB type
- c.*335G>A Single submitter methylmalonic aciduria, cblB type
- c.*336TG[19] Single submitter
- c.*336TG[20] Single submitter
- c.*336TG[21] Single submitter
- c.*348T>G Single submitter methylmalonic aciduria, cblB type
- c.*422T>C Single submitter methylmalonic aciduria, cblB type
- c.*424G>A Single submitter methylmalonic aciduria, cblB type
- c.*503G>A Single submitter methylmalonic aciduria, cblB type
- c.*509C>T Single submitter methylmalonic aciduria, cblB type
- c.*554G>A Single submitter methylmalonic aciduria, cblB type
- c.*588C>T Single submitter methylmalonic aciduria, cblB type
- c.*691A>C Single submitter methylmalonic aciduria, cblB type
- c.*710C>T Single submitter methylmalonic aciduria, cblB type
- c.*716C>T Single submitter methylmalonic aciduria, cblB type
- c.*815T>C Single submitter methylmalonic aciduria, cblB type
- c.*961G>A Single submitter methylmalonic aciduria, cblB type
- p.Ala127Thr Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ala169Thr Single submitter Inborn genetic diseases ⚠
- p.Ala181Gly Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ala181Thr Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ala207Glu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ala228Val Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ala2Val Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ala95Ser Single submitter ⚠
- p.Arg136Trp Single submitter methylmalonic aciduria, cblB type ⚠
- p.Arg15His Single submitter methylmalonic aciduria, cblB type ⚠
- p.Arg186Gly Single submitter methylmalonic aciduria, cblB type ⚠
- p.Arg190Leu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Arg190Pro Single submitter ⚠
- p.Arg194Ser Single submitter methylmalonic aciduria, cblB type ⚠
- p.Arg45Lys Single submitter methylmalonic aciduria, cblB type ⚠
- p.Arg54Lys Single submitter methylmalonic aciduria, cblB type ⚠
- p.Arg9Cys Single submitter methylmalonic aciduria, cblB type ⚠
- p.Asp123Asn Single submitter methylmalonic aciduria, cblB type ⚠
- p.Asp206Asn Single submitter methylmalonic aciduria, cblB type ⚠
- p.Asp218Asn Single submitter methylmalonic aciduria, cblB type ⚠
- p.Asp79Asn Single submitter Inborn genetic diseases ⚠
- p.Cys185Tyr Single submitter methylmalonic aciduria, cblB type ⚠
- p.Gln115His Single submitter Inborn genetic diseases ⚠
- p.Gln234fs Single submitter methylmalonic aciduria, cblB type
- p.Gln81Arg Single submitter Inborn genetic diseases ⚠
- p.Glu113Asp Single submitter methylmalonic aciduria, cblB type
- p.Glu248Asp Single submitter Inborn genetic diseases ⚠
- p.Glu84Lys Single submitter methylmalonic aciduria, cblB type ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly125Ser Single submitter methylmalonic aciduria, cblB type ⚠
- p.Gly13_Arg19delinsGln Single submitter methylmalonic aciduria, cblB type
- p.Gly87Val Single submitter ⚠
- p.His108Arg Single submitter ⚠
- p.Ile157Phe Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ile171Val Single submitter methylmalonic aciduria, cblB type ⚠
- p.Leu10Ile Single submitter methylmalonic aciduria, cblB type ⚠
- p.Leu12Pro Single submitter methylmalonic aciduria, cblB type ⚠
- p.Leu164Phe Single submitter methylmalonic aciduria, cblB type ⚠
- p.Leu220Pro Single submitter methylmalonic aciduria, cblB type ⚠
- p.Leu223Arg Single submitter Inborn genetic diseases ⚠
- p.Lys141Arg Single submitter methylmalonic aciduria, cblB type ⚠
- p.Lys159Gln Single submitter methylmalonic aciduria, cblB type ⚠
- p.Met202Val Single submitter methylmalonic aciduria, cblB type ⚠
- p.Met239_Lys240delinsLysTer Single submitter
- p.Phe22Leu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Phe67Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe83Leu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Phe83Ser Single submitter methylmalonic aciduria, cblB type ⚠
- p.Pro198Leu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Pro56Ser Single submitter Inborn genetic diseases ⚠
- p.Ser180Leu Single submitter methylmalonic aciduria, cblB type ⚠
- p.Ser217Arg Single submitter ⚠
- p.Ser50Leu Single submitter Inborn genetic diseases ⚠
- p.Ser69Thr Single submitter methylmalonic aciduria, cblB type ⚠
- p.Thr109Ala Single submitter Inborn genetic diseases ⚠
- p.Thr109Ile Single submitter methylmalonic aciduria, cblB type ⚠
- p.Thr144Ala Single submitter methylmalonic aciduria, cblB type ⚠
- p.Tyr226His Single submitter methylmalonic aciduria, cblB type ⚠
- p.Val124Ile Single submitter methylmalonic aciduria, cblB type ⚠
- p.Val197Ala Single submitter methylmalonic aciduria, cblB type ⚠
- p.Val3Met Single submitter methylmalonic aciduria, cblB type ⚠
- p.Val86Met Single submitter methylmalonic aciduria, cblB type ⚠
- c.134+6T>A No assertion criteria methylmalonic aciduria, cblB type
- c.584+9del No assertion criteria methylmalonic aciduria, cblB type
- c.-69G>A No assertion criteria methylmalonic aciduria, cblB type
- p.Ala227Gly No assertion criteria methylmalonic aciduria, cblB type ⚠
- p.Asp80Asn No assertion criteria methylmalonic aciduria, cblB type ⚠
- p.Cys119Arg No assertion criteria methylmalonic aciduria, cblB type ⚠
- p.Gln38Leu No assertion criteria methylmalonic aciduria, cblB type ⚠
- p.Gly39Asp No assertion criteria methylmalonic aciduria, cblB type ⚠
- p.Ile237Val No assertion criteria methylmalonic aciduria, cblB type ⚠
- p.Leu27= No assertion criteria methylmalonic aciduria, cblB type
- p.Lys159Glu No assertion criteria methylmalonic aciduria, cblB type ⚠
- p.Thr130_Glu137del No assertion criteria methylmalonic aciduria, cblB type
- p.Thr72Ile No assertion criteria methylmalonic aciduria, cblB type ⚠