Sugi Variant

Sugi Variant/MMAA

MMAA — 631 ClinVar variants

All ClinVar germline MMAA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

55 Pathogenic · 24 Pathogenic/Likely pathogenic · 61 Likely pathogenic · 20 Conflicting · 30 Benign · 3 Benign/Likely benign · 191 Likely benign · 247 Uncertain significance

Full MMAA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

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.

Predictors agree, ClinVar conflicts 9

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 117

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 33

The independent predictors disagree with each other — read with care.

All MMAA variants

Pathogenic 55

  • p.Arg196Ter Multiple submitters MMAA-related disorder
  • p.Arg22Ter Multiple submitters methylmalonic acidemia
  • p.Arg300Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Arg330Ter Multiple submitters methylmalonic acidemia
  • p.Cys184fs Multiple submitters methylmalonic aciduria, cblA type
  • p.Gln120Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Gln133Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Gln248Ter Multiple submitters methylmalonic acidemia
  • p.Gln42Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Glu373Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Gly218fs Multiple submitters methylmalonic aciduria, cblA type
  • p.His130fs Multiple submitters methylmalonic aciduria, cblA type
  • p.Leu217Ter Multiple submitters methylmalonic acidemia
  • p.Phe345fs Multiple submitters methylmalonic aciduria, cblA type
  • p.Pro151fs Multiple submitters methylmalonic aciduria, cblA type
  • p.Pro152fs Multiple submitters MMAA-related disorder
  • p.Thr198fs Multiple submitters MMAA-related disorder
  • p.Trp54Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Tyr129Ter Multiple submitters MMAA-related disorder
  • p.Val176fs Multiple submitters methylmalonic aciduria, cblA type
  • p.Ala19fs Single submitter methylmalonic aciduria, cblA type
  • p.Ala287Asp Single submitter methylmalonic aciduria, cblA type
  • p.Arg314fs Single submitter methylmalonic aciduria, cblA type
  • p.Asp255Ter Single submitter methylmalonic aciduria, cblA type
  • p.Asp284fs Single submitter methylmalonic aciduria, cblA type
  • p.Asp292Val Single submitter methylmalonic aciduria, cblA type
  • p.Gln273Ter Single submitter methylmalonic aciduria, cblA type
  • p.Gln97fs Single submitter methylmalonic aciduria, cblA type
  • p.Glu109Ter Single submitter methylmalonic aciduria, cblA type
  • p.Glu117Ter Single submitter methylmalonic aciduria, cblA type
  • p.Gly192Asp Single submitter methylmalonic aciduria, cblA type
  • p.Gly233Ter Single submitter methylmalonic aciduria, cblA type
  • p.Ile238fs Single submitter methylmalonic aciduria, cblA type
  • p.Ile241Phe Single submitter methylmalonic aciduria, cblA type
  • p.Ile302fs Single submitter methylmalonic aciduria, cblA type
  • p.Leu148fs Single submitter methylmalonic aciduria, cblA type
  • p.Leu148Ter Single submitter methylmalonic aciduria, cblA type
  • p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter methylmalonic aciduria, cblA type
  • p.Leu410Ter Single submitter methylmalonic aciduria, cblA type
  • p.Leu47fs Single submitter methylmalonic aciduria, cblA type
  • p.Leu57fs Single submitter methylmalonic aciduria, cblA type
  • p.Lys62fs Single submitter methylmalonic aciduria, cblA type
  • p.Phe163fs Single submitter
  • p.Pro266fs Single submitter methylmalonic aciduria, cblA type
  • p.Ser157fs Single submitter methylmalonic aciduria, cblA type
  • p.Ser46fs Single submitter methylmalonic aciduria, cblA type
  • p.Thr106fs Single submitter methylmalonic aciduria, cblA type
  • p.Thr168fs Single submitter methylmalonic aciduria, cblA type
  • p.Thr243Asn Single submitter methylmalonic aciduria, cblA type
  • p.Thr91fs Single submitter methylmalonic aciduria, cblA type
  • p.Tyr90fs Single submitter methylmalonic aciduria, cblA type
  • p.Val375fs Single submitter methylmalonic aciduria, cblA type
  • p.Asp87delinsGluTer No assertion criteria methylmalonic aciduria, cblA type
  • p.Met342Arg No assertion criteria methylmalonic aciduria, cblA type
  • p.Tyr207Cys No assertion criteria methylmalonic aciduria, cblA type

Pathogenic/Likely pathogenic 24

  • c.733+1G>A Multiple submitters methylmalonic aciduria, cblA type
  • c.733+1G>T Multiple submitters methylmalonic aciduria, cblA type
  • c.820-1G>A Multiple submitters methylmalonic aciduria, cblA type
  • c.820-1G>C Multiple submitters methylmalonic aciduria, cblA type
  • c.963_969+4del Multiple submitters methylmalonic aciduria, cblA type
  • p.Arg145Gln Multiple submitters methylmalonic acidemia
  • p.Arg145Ter Multiple submitters MMAA-related disorder
  • p.Arg214fs Multiple submitters MMAA-related disorder
  • p.Arg359Gln Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Arg359Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Asn137fs Multiple submitters methylmalonic acidemia
  • p.Gln363Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Gln372fs Multiple submitters methylmalonic aciduria, cblA type
  • p.Gln372Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Gln68Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Gln95Ter Multiple submitters MMAA-related disorder
  • p.Gly278Asp Multiple submitters methylmalonic aciduria, cblA type
  • p.Gly399Val Multiple submitters methylmalonic aciduria, cblA type
  • p.Leu122Pro Multiple submitters methylmalonic aciduria, cblA type
  • p.Leu89Pro Multiple submitters methylmalonic aciduria, cblA type
  • p.Trp366Ter Multiple submitters methylmalonic aciduria, cblA type
  • p.Tyr24Ter Multiple submitters Methylmalonic aciduria of the cblA complementation type
  • p.Val220Met Multiple submitters MMAA-related disorder
  • p.Val253fs Multiple submitters methylmalonic aciduria, cblA type

Likely pathogenic 61

  • c.439+4_439+7del Multiple submitters methylmalonic aciduria, cblA type
  • c.440-2A>G Multiple submitters methylmalonic aciduria, cblA type
  • c.562+2T>C Multiple submitters methylmalonic aciduria, cblA type
  • c.820-2A>G Multiple submitters methylmalonic aciduria, cblA type
  • p.Asp258Asn Multiple submitters MMAA-related disorder ⚠
  • p.Gln362Ter Multiple submitters methylmalonic aciduria, cblA type
  • c.439+1G>A Single submitter methylmalonic aciduria, cblA type
  • c.439+2T>A Single submitter methylmalonic aciduria, cblA type
  • c.439+2T>C Single submitter methylmalonic aciduria, cblA type
  • c.562+1G>A Single submitter methylmalonic aciduria, cblA type
  • c.821del Single submitter methylmalonic aciduria, cblA type
  • c.970-2A>C Single submitter methylmalonic aciduria, cblA type
  • c.970-2A>T Single submitter methylmalonic aciduria, cblA type
  • p.Arg277fs Single submitter
  • p.Arg300fs Single submitter methylmalonic aciduria, cblA type
  • p.Arg330fs Single submitter methylmalonic aciduria, cblA type
  • p.Arg63fs Single submitter methylmalonic aciduria, cblA type
  • p.Asp237Ter Single submitter methylmalonic aciduria, cblA type
  • p.Asp255fs Single submitter methylmalonic aciduria, cblA type
  • p.Asp347_Leu348insTer Single submitter methylmalonic aciduria, cblA type
  • p.Cys184Ter Single submitter methylmalonic aciduria, cblA type
  • p.Gln135fs Single submitter methylmalonic aciduria, cblA type
  • p.Gln346Ter Single submitter methylmalonic aciduria, cblA type
  • p.Glu199fs Single submitter methylmalonic aciduria, cblA type
  • p.Glu377fs Single submitter methylmalonic aciduria, cblA type
  • p.Gly147Glu Single submitter methylmalonic aciduria, cblA type
  • p.Gly164Ter Single submitter methylmalonic aciduria, cblA type
  • p.Gly188Arg Single submitter methylmalonic aciduria, cblA type
  • p.Gly218Glu Single submitter methylmalonic acidemia
  • p.Gly278Ser Single submitter methylmalonic aciduria, cblA type
  • p.His382fs Single submitter methylmalonic aciduria, cblA type
  • p.Ile279fs Single submitter methylmalonic aciduria, cblA type
  • p.Ile38fs Single submitter methylmalonic aciduria, cblA type
  • p.Leu101Ter Single submitter methylmalonic aciduria, cblA type
  • p.Leu262Ter Single submitter methylmalonic aciduria, cblA type
  • p.Leu263Pro Single submitter MMAA-related disorder
  • p.Leu313fs Single submitter methylmalonic aciduria, cblA type
  • p.Lys115Ter Single submitter methylmalonic aciduria, cblA type
  • p.Lys140fs Single submitter methylmalonic aciduria, cblA type
  • p.Lys165Ter Single submitter methylmalonic aciduria, cblA type
  • p.Met166fs Single submitter methylmalonic aciduria, cblA type
  • p.Phe260fs Single submitter methylmalonic aciduria, cblA type
  • p.Phe85fs Single submitter methylmalonic aciduria, cblA type
  • p.Ser175fs Single submitter methylmalonic aciduria, cblA type
  • p.Ser183fs Single submitter methylmalonic aciduria, cblA type
  • p.Ser201fs Single submitter methylmalonic aciduria, cblA type
  • p.Ser79Pro Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Thr213fs Single submitter methylmalonic aciduria, cblA type
  • p.Thr356fs Single submitter methylmalonic aciduria, cblA type
  • p.Thr384fs Single submitter methylmalonic aciduria, cblA type
  • p.Thr69fs Single submitter methylmalonic aciduria, cblA type
  • p.Trp368Ter Single submitter
  • p.Tyr236Ter Single submitter methylmalonic aciduria, cblA type
  • p.Val108fs Single submitter methylmalonic aciduria, cblA type
  • p.Val220Ala Single submitter methylmalonic aciduria, cblA type
  • c.562+1G>T No assertion criteria methylmalonic aciduria, cblA type
  • p.Gln318Ter No assertion criteria methylmalonic aciduria, cblA type
  • p.Glu199Ter No assertion criteria methylmalonic aciduria, cblA type
  • p.Leu272fs No assertion criteria methylmalonic aciduria, cblA type
  • p.Met1Val No assertion criteria methylmalonic aciduria, cblA type
  • p.Pro6fs No assertion criteria methylmalonic aciduria, cblA type

Conflicting classifications of pathogenicity 20

  • c.440-6C>T Single submitter Inborn genetic diseases
  • c.-14C>T Single submitter methylmalonic aciduria, cblA type
  • c.*600G>A Single submitter methylmalonic aciduria, cblA type
  • c.*97G>C Single submitter methylmalonic aciduria, cblA type
  • p.Ala102Thr Single submitter microcephaly ⚠
  • p.Ala304= Single submitter methylmalonic aciduria, cblA type
  • p.Arg131Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg222Gly Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Cys100_Ala104del Single submitter methylmalonic aciduria, cblA type
  • p.Ile335= Single submitter methylmalonic aciduria, cblA type
  • p.Ile335Phe Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Ile398Thr Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu34= Single submitter methylmalonic aciduria, cblA type
  • p.Lys165Arg Single submitter Inborn genetic diseases ⚠
  • p.Met259Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro210= Single submitter methylmalonic aciduria, cblA type
  • p.Pro322= Single submitter methylmalonic aciduria, cblA type
  • p.Ser374Asn Single submitter Inborn genetic diseases ⚠
  • p.Tyr90Phe Single submitter Inborn genetic diseases ⚠
  • c.-4G>A No assertion criteria MMAA-related disorder

Benign 30

Benign/Likely benign 3

  • p.Gln363His Multiple submitters methylmalonic aciduria, cblA type
  • p.Glu199= Multiple submitters methylmalonic aciduria, cblA type
  • p.Lys412= Multiple submitters methylmalonic aciduria, cblA type

Likely benign 191

  • c.440-4G>A Multiple submitters Inborn genetic diseases
  • c.733+13T>C Multiple submitters methylmalonic aciduria, cblA type
  • c.970-5G>A Multiple submitters methylmalonic aciduria, cblA type
  • c.970-6C>T Multiple submitters methylmalonic aciduria, cblA type
  • c.*2364A>G Multiple submitters methylmalonic aciduria, cblA type
  • c.*3254A>C Multiple submitters methylmalonic aciduria, cblA type
  • c.*3285G>A Multiple submitters methylmalonic aciduria, cblA type
  • p.Ala407= Multiple submitters methylmalonic aciduria, cblA type
  • p.Gly293= Multiple submitters methylmalonic aciduria, cblA type
  • c.439+12T>G Single submitter methylmalonic aciduria, cblA type
  • c.439+14del Single submitter methylmalonic aciduria, cblA type
  • c.439+14G>T Single submitter methylmalonic aciduria, cblA type
  • c.439+16G>C Single submitter methylmalonic aciduria, cblA type
  • c.439+9T>C Single submitter methylmalonic aciduria, cblA type
  • c.440-10dup Single submitter methylmalonic aciduria, cblA type
  • c.440-17A>T Single submitter methylmalonic aciduria, cblA type
  • c.440-19A>C Single submitter methylmalonic aciduria, cblA type
  • c.440-5C>T Single submitter methylmalonic aciduria, cblA type
  • c.440-7A>C Single submitter methylmalonic aciduria, cblA type
  • c.440-9C>A Single submitter methylmalonic aciduria, cblA type
  • c.562+11C>T Single submitter methylmalonic aciduria, cblA type
  • c.562+17C>A Single submitter methylmalonic aciduria, cblA type
  • c.562+18T>G Single submitter methylmalonic aciduria, cblA type
  • c.562+7A>T Single submitter methylmalonic aciduria, cblA type
  • c.562+8T>C Single submitter methylmalonic aciduria, cblA type
  • c.562+9G>A Single submitter methylmalonic aciduria, cblA type
  • c.563-12T>C Single submitter methylmalonic aciduria, cblA type
  • c.563-17G>A Single submitter methylmalonic aciduria, cblA type
  • c.563-4T>A Single submitter methylmalonic aciduria, cblA type
  • c.563-9A>G Single submitter methylmalonic aciduria, cblA type
  • c.733+12A>G Single submitter methylmalonic aciduria, cblA type
  • c.733+16T>G Single submitter methylmalonic aciduria, cblA type
  • c.733+8T>A Single submitter methylmalonic aciduria, cblA type
  • c.733+9G>A Single submitter methylmalonic aciduria, cblA type
  • c.734-13T>C Single submitter methylmalonic aciduria, cblA type
  • c.734-15G>A Single submitter methylmalonic aciduria, cblA type
  • c.734-20G>A Single submitter methylmalonic aciduria, cblA type
  • c.734-8A>G Single submitter methylmalonic aciduria, cblA type
  • c.734-9C>A Single submitter methylmalonic aciduria, cblA type
  • c.734-9C>T Single submitter methylmalonic aciduria, cblA type
  • c.819+10T>A Single submitter methylmalonic aciduria, cblA type
  • c.819+11T>G Single submitter methylmalonic aciduria, cblA type
  • c.819+13del Single submitter methylmalonic aciduria, cblA type
  • c.819+8T>C Single submitter methylmalonic aciduria, cblA type
  • c.820-10A>C Single submitter methylmalonic aciduria, cblA type
  • c.820-139G>A Single submitter
  • c.820-13C>G Single submitter methylmalonic aciduria, cblA type
  • c.820-15T>G Single submitter methylmalonic aciduria, cblA type
  • c.820-18T>C Single submitter methylmalonic aciduria, cblA type
  • c.820-7T>C Single submitter methylmalonic aciduria, cblA type
  • c.820-8C>G Single submitter methylmalonic aciduria, cblA type
  • c.969+10C>T Single submitter methylmalonic aciduria, cblA type
  • c.969+15A>C Single submitter methylmalonic aciduria, cblA type
  • c.969+15A>G Single submitter methylmalonic aciduria, cblA type
  • c.969+18C>T Single submitter methylmalonic aciduria, cblA type
  • c.969+20G>T Single submitter methylmalonic aciduria, cblA type
  • c.969+9G>A Single submitter methylmalonic aciduria, cblA type
  • c.970-19G>C Single submitter methylmalonic aciduria, cblA type
  • c.970-19G>T Single submitter methylmalonic aciduria, cblA type
  • c.970-3dup Single submitter methylmalonic aciduria, cblA type
  • c.970-4A>T Single submitter methylmalonic aciduria, cblA type
  • c.970-5G>T Single submitter methylmalonic aciduria, cblA type
  • c.970-7T>C Single submitter methylmalonic aciduria, cblA type
  • c.*1952T>C Single submitter methylmalonic aciduria, cblA type
  • p.Ala119= Single submitter methylmalonic aciduria, cblA type
  • p.Ala19= Single submitter methylmalonic aciduria, cblA type
  • p.Ala206= Single submitter methylmalonic aciduria, cblA type
  • p.Ala234= Single submitter methylmalonic aciduria, cblA type
  • p.Ala252= Single submitter methylmalonic aciduria, cblA type
  • p.Ala254= Single submitter methylmalonic aciduria, cblA type
  • p.Ala287= Single submitter methylmalonic aciduria, cblA type
  • p.Ala309= Single submitter methylmalonic aciduria, cblA type
  • p.Arg114= Single submitter methylmalonic aciduria, cblA type
  • p.Arg18= Single submitter methylmalonic aciduria, cblA type
  • p.Arg222= Single submitter methylmalonic aciduria, cblA type
  • p.Arg277= Single submitter methylmalonic aciduria, cblA type
  • p.Arg314= Single submitter methylmalonic aciduria, cblA type
  • p.Arg360= Single submitter methylmalonic aciduria, cblA type
  • p.Arg380= Single submitter methylmalonic aciduria, cblA type
  • p.Arg386= Single submitter methylmalonic aciduria, cblA type
  • p.Asp237= Single submitter methylmalonic aciduria, cblA type
  • p.Asp255= Single submitter methylmalonic aciduria, cblA type
  • p.Asp340= Single submitter methylmalonic aciduria, cblA type
  • p.Asp59= Single submitter methylmalonic aciduria, cblA type
  • p.Asp80= Single submitter methylmalonic aciduria, cblA type
  • p.Cys66= Single submitter methylmalonic aciduria, cblA type
  • p.Gln135= Single submitter methylmalonic aciduria, cblA type
  • p.Gln362= Single submitter methylmalonic aciduria, cblA type
  • p.Gln372= Single submitter methylmalonic aciduria, cblA type
  • p.Gln68= Single submitter methylmalonic aciduria, cblA type
  • p.Glu134= Single submitter methylmalonic aciduria, cblA type
  • p.Glu333= Single submitter methylmalonic aciduria, cblA type
  • p.Glu377= Single submitter methylmalonic aciduria, cblA type
  • p.Glu387= Single submitter methylmalonic aciduria, cblA type
  • p.Glu393= Single submitter methylmalonic aciduria, cblA type
  • p.Glu82= Single submitter methylmalonic aciduria, cblA type
  • p.Gly171= Single submitter methylmalonic aciduria, cblA type
  • p.Gly188= Single submitter methylmalonic aciduria, cblA type
  • p.Gly219= Single submitter methylmalonic aciduria, cblA type
  • p.Gly334= Single submitter methylmalonic aciduria, cblA type
  • p.Gly353= Single submitter methylmalonic aciduria, cblA type
  • p.Gly399= Single submitter methylmalonic aciduria, cblA type
  • p.Gly404= Single submitter methylmalonic aciduria, cblA type
  • p.Gly48= Single submitter methylmalonic aciduria, cblA type
  • p.Gly60= Single submitter methylmalonic aciduria, cblA type
  • p.Gly96= Single submitter methylmalonic aciduria, cblA type
  • p.His11= Single submitter methylmalonic aciduria, cblA type
  • p.His112= Single submitter methylmalonic aciduria, cblA type
  • p.His130= Single submitter methylmalonic aciduria, cblA type
  • p.His33= Single submitter methylmalonic aciduria, cblA type
  • p.His382= Single submitter methylmalonic aciduria, cblA type
  • p.His50= Single submitter methylmalonic aciduria, cblA type
  • p.His7= Single submitter methylmalonic aciduria, cblA type
  • p.His74= Single submitter methylmalonic aciduria, cblA type
  • p.Ile27= Single submitter methylmalonic aciduria, cblA type
  • p.Ile280= Single submitter methylmalonic aciduria, cblA type
  • p.Leu101= Single submitter methylmalonic aciduria, cblA type
  • p.Leu107= Single submitter methylmalonic aciduria, cblA type
  • p.Leu118= Single submitter methylmalonic aciduria, cblA type
  • p.Leu123= Single submitter methylmalonic aciduria, cblA type
  • p.Leu128= Single submitter methylmalonic aciduria, cblA type
  • p.Leu13= Single submitter methylmalonic aciduria, cblA type
  • p.Leu167= Single submitter methylmalonic aciduria, cblA type
  • p.Leu17= Single submitter methylmalonic aciduria, cblA type
  • p.Leu200= Single submitter methylmalonic aciduria, cblA type
  • p.Leu217= Single submitter methylmalonic aciduria, cblA type
  • p.Leu262= Single submitter methylmalonic aciduria, cblA type
  • p.Leu263= Single submitter methylmalonic aciduria, cblA type
  • p.Leu272= Single submitter methylmalonic aciduria, cblA type
  • p.Leu285= Single submitter methylmalonic aciduria, cblA type
  • p.Leu295= Single submitter methylmalonic aciduria, cblA type
  • p.Leu348= Single submitter methylmalonic aciduria, cblA type
  • p.Leu401= Single submitter methylmalonic aciduria, cblA type
  • p.Leu410= Single submitter methylmalonic aciduria, cblA type
  • p.Leu5= Single submitter methylmalonic aciduria, cblA type
  • p.Leu56= Single submitter methylmalonic aciduria, cblA type
  • p.Leu57= Single submitter
  • p.Leu65= Single submitter methylmalonic aciduria, cblA type
  • p.Lys125= Single submitter methylmalonic aciduria, cblA type
  • p.Lys138= Single submitter methylmalonic aciduria, cblA type
  • p.Lys173= Single submitter methylmalonic aciduria, cblA type
  • p.Lys311= Single submitter methylmalonic aciduria, cblA type
  • p.Lys341= Single submitter methylmalonic aciduria, cblA type
  • p.Lys361= Single submitter methylmalonic aciduria, cblA type
  • p.Lys53= Single submitter methylmalonic aciduria, cblA type
  • p.Lys62= Single submitter methylmalonic aciduria, cblA type
  • p.Lys88= Single submitter methylmalonic aciduria, cblA type
  • p.Phe12= Single submitter methylmalonic aciduria, cblA type
  • p.Phe26= Single submitter methylmalonic aciduria, cblA type
  • p.Phe379= Single submitter methylmalonic aciduria, cblA type
  • p.Phe85= Single submitter methylmalonic aciduria, cblA type
  • p.Pro151= Single submitter methylmalonic aciduria, cblA type
  • p.Pro2= Single submitter methylmalonic aciduria, cblA type
  • p.Pro265= Single submitter methylmalonic aciduria, cblA type
  • p.Pro383= Single submitter methylmalonic aciduria, cblA type
  • p.Pro39= Single submitter methylmalonic aciduria, cblA type
  • p.Pro390= Single submitter methylmalonic aciduria, cblA type
  • p.Pro43= Single submitter methylmalonic aciduria, cblA type
  • p.Ser182= Single submitter methylmalonic aciduria, cblA type
  • p.Ser183= Single submitter methylmalonic aciduria, cblA type
  • p.Ser201= Single submitter methylmalonic aciduria, cblA type
  • p.Ser308= Single submitter methylmalonic aciduria, cblA type
  • p.Ser317= Single submitter methylmalonic aciduria, cblA type
  • p.Ser352= Single submitter methylmalonic aciduria, cblA type
  • p.Ser402= Single submitter methylmalonic aciduria, cblA type
  • p.Thr111= Single submitter methylmalonic aciduria, cblA type
  • p.Thr185= Single submitter methylmalonic aciduria, cblA type
  • p.Thr195= Single submitter methylmalonic aciduria, cblA type
  • p.Thr216= Single submitter methylmalonic aciduria, cblA type
  • p.Thr221= Single submitter methylmalonic aciduria, cblA type
  • p.Thr243= Single submitter methylmalonic aciduria, cblA type
  • p.Thr289= Single submitter methylmalonic aciduria, cblA type
  • p.Thr32= Single submitter methylmalonic aciduria, cblA type
  • p.Thr52= Single submitter methylmalonic aciduria, cblA type
  • p.Thr70= Single submitter methylmalonic aciduria, cblA type
  • p.Thr75= Single submitter methylmalonic aciduria, cblA type
  • p.Tyr24= Single submitter methylmalonic aciduria, cblA type
  • p.Tyr306= Single submitter methylmalonic aciduria, cblA type
  • p.Val121= Single submitter methylmalonic aciduria, cblA type
  • p.Val126= Single submitter methylmalonic aciduria, cblA type
  • p.Val220= Single submitter methylmalonic aciduria, cblA type
  • p.Val257= Single submitter methylmalonic aciduria, cblA type
  • p.Val261= Single submitter methylmalonic aciduria, cblA type
  • p.Val286= Single submitter methylmalonic aciduria, cblA type
  • p.Val297= Single submitter methylmalonic aciduria, cblA type
  • p.Val319= Single submitter methylmalonic aciduria, cblA type
  • p.Val324= Single submitter methylmalonic aciduria, cblA type
  • p.Val365= Single submitter methylmalonic aciduria, cblA type
  • p.Val67= Single submitter methylmalonic aciduria, cblA type
  • p.Val86= Single submitter methylmalonic aciduria, cblA type
  • p.Glu305= No assertion criteria MMAA-related disorder

Uncertain significance 247

  • c.*703C>T Multiple submitters methylmalonic aciduria, cblA type
  • p.Ala234Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala254Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala254Val Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Ala267Val Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Ala304Val Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Ala400Ser Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Arg170Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg196Gln Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Arg314Cys Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Arg314His Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Arg316Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg326His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg330Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg360Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg386Gln Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Arg386Trp Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Asp284His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu134Gln Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Glu393Lys Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Ile241Val Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Ile275Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile302Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile302Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu16Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu310Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu350Phe Multiple submitters methylmalonic aciduria, cblA type ⚠
  • p.Lys116Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met282Thr Multiple submitters Inborn genetic diseases
  • p.Met3Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro43Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser31Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser352Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr381Ile Multiple submitters Inborn genetic diseases ⚠
  • c.562+4A>C Single submitter methylmalonic aciduria, cblA type
  • c.970-3T>C Single submitter methylmalonic aciduria, cblA type
  • c.-5C>G Single submitter methylmalonic aciduria, cblA type
  • c.-66+10G>C Single submitter methylmalonic aciduria, cblA type
  • c.-66+7915G>A Single submitter
  • c.-68C>A Single submitter methylmalonic aciduria, cblA type
  • c.-68C>T Single submitter methylmalonic aciduria, cblA type
  • c.*1149C>G Single submitter methylmalonic aciduria, cblA type
  • c.*1221A>G Single submitter methylmalonic aciduria, cblA type
  • c.*1227A>T Single submitter methylmalonic aciduria, cblA type
  • c.*1273C>T Single submitter methylmalonic aciduria, cblA type
  • c.*1284G>A Single submitter methylmalonic aciduria, cblA type
  • c.*1425C>T Single submitter methylmalonic aciduria, cblA type
  • c.*1510C>T Single submitter methylmalonic aciduria, cblA type
  • c.*152A>G Single submitter methylmalonic aciduria, cblA type
  • c.*1558C>G Single submitter methylmalonic aciduria, cblA type
  • c.*1584A>G Single submitter methylmalonic aciduria, cblA type
  • c.*1610C>T Single submitter methylmalonic aciduria, cblA type
  • c.*1779T>C Single submitter methylmalonic aciduria, cblA type
  • c.*177A>G Single submitter methylmalonic aciduria, cblA type
  • c.*1819C>G Single submitter methylmalonic aciduria, cblA type
  • c.*188A>G Single submitter methylmalonic aciduria, cblA type
  • c.*190C>T Single submitter methylmalonic aciduria, cblA type
  • c.*1918G>A Single submitter methylmalonic aciduria, cblA type
  • c.*1924T>C Single submitter methylmalonic aciduria, cblA type
  • c.*192G>A Single submitter methylmalonic aciduria, cblA type
  • c.*1940T>C Single submitter methylmalonic aciduria, cblA type
  • c.*1966C>T Single submitter methylmalonic aciduria, cblA type
  • c.*1988A>T Single submitter methylmalonic aciduria, cblA type
  • c.*2139A>G Single submitter methylmalonic aciduria, cblA type
  • c.*229T>C Single submitter methylmalonic aciduria, cblA type
  • c.*2343A>G Single submitter methylmalonic aciduria, cblA type
  • c.*2378A>G Single submitter methylmalonic aciduria, cblA type
  • c.*2444C>G Single submitter methylmalonic aciduria, cblA type
  • c.*2445A>C Single submitter methylmalonic aciduria, cblA type
  • c.*2448T>C Single submitter methylmalonic aciduria, cblA type
  • c.*2471G>A Single submitter methylmalonic aciduria, cblA type
  • c.*2479G>A Single submitter methylmalonic aciduria, cblA type
  • c.*2479G>T Single submitter methylmalonic aciduria, cblA type
  • c.*2562C>T Single submitter methylmalonic aciduria, cblA type
  • c.*2627A>G Single submitter methylmalonic aciduria, cblA type
  • c.*2645C>T Single submitter methylmalonic aciduria, cblA type
  • c.*2646G>A Single submitter methylmalonic aciduria, cblA type
  • c.*2807C>T Single submitter methylmalonic aciduria, cblA type
  • c.*2808G>A Single submitter methylmalonic aciduria, cblA type
  • c.*2903C>T Single submitter methylmalonic aciduria, cblA type
  • c.*3035A>C Single submitter methylmalonic aciduria, cblA type
  • c.*3087A>G Single submitter methylmalonic aciduria, cblA type
  • c.*3125C>T Single submitter methylmalonic aciduria, cblA type
  • c.*3213C>T Single submitter methylmalonic aciduria, cblA type
  • c.*3222T>C Single submitter methylmalonic aciduria, cblA type
  • c.*3325C>T Single submitter methylmalonic aciduria, cblA type
  • c.*3385C>T Single submitter methylmalonic aciduria, cblA type
  • c.*342A>G Single submitter methylmalonic aciduria, cblA type
  • c.*353C>A Single submitter methylmalonic aciduria, cblA type
  • c.*3703T>C Single submitter methylmalonic aciduria, cblA type
  • c.*3797A>G Single submitter methylmalonic aciduria, cblA type
  • c.*3801A>G Single submitter methylmalonic aciduria, cblA type
  • c.*3880G>A Single submitter methylmalonic aciduria, cblA type
  • c.*3934C>G Single submitter methylmalonic aciduria, cblA type
  • c.*4044T>C Single submitter methylmalonic aciduria, cblA type
  • c.*4103G>A Single submitter methylmalonic aciduria, cblA type
  • c.*4200G>T Single submitter methylmalonic aciduria, cblA type
  • c.*4228T>C Single submitter methylmalonic aciduria, cblA type
  • c.*4324G>A Single submitter methylmalonic aciduria, cblA type
  • c.*4326A>T Single submitter methylmalonic aciduria, cblA type
  • c.*4457A>G Single submitter methylmalonic aciduria, cblA type
  • c.*4504C>A Single submitter methylmalonic aciduria, cblA type
  • c.*4533C>T Single submitter methylmalonic aciduria, cblA type
  • c.*4539T>G Single submitter methylmalonic aciduria, cblA type
  • c.*540A>T Single submitter methylmalonic aciduria, cblA type
  • c.*541A>G Single submitter methylmalonic aciduria, cblA type
  • c.*581G>T Single submitter methylmalonic aciduria, cblA type
  • c.*611A>C Single submitter methylmalonic aciduria, cblA type
  • c.*661C>T Single submitter methylmalonic aciduria, cblA type
  • c.*67G>A Single submitter methylmalonic aciduria, cblA type
  • c.*890G>A Single submitter methylmalonic aciduria, cblA type
  • c.*942A>G Single submitter methylmalonic aciduria, cblA type
  • p.Ala102Val Single submitter Inborn genetic diseases ⚠
  • p.Ala119Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala206Thr Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Ala252Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala309Val Single submitter Inborn genetic diseases ⚠
  • p.Ala329Val Single submitter Inborn genetic diseases ⚠
  • p.Ala407Val Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Ala99Thr Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Arg22Gln Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Arg316His Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Arg326Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg84Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn225Asp Single submitter ⚠
  • p.Asp255Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp255His Single submitter methylmalonic aciduria, cblA type
  • p.Asp418Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp59His Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Asp87Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys184Tyr Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Cys231Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Cys23Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gln346Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gln388Ter Single submitter methylmalonic aciduria, cblA type
  • p.Gln42Glu Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gln83Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln95Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Glu103Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu109Lys Single submitter ⚠
  • p.Glu161Asp Single submitter Inborn genetic diseases
  • p.Glu226Lys Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Glu250Lys Single submitter ⚠
  • p.Glu281Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu354Gly Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gly153Ser Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gly15Glu Single submitter methylmalonic aciduria, cblA type
  • p.Gly268Val Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gly274Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gly293Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gly334Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Gly404Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly404Glu Single submitter Inborn genetic diseases ⚠
  • p.His112Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.His112Tyr Single submitter ⚠
  • p.His11Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.His130Arg Single submitter Inborn genetic diseases ⚠
  • p.His25Gln Single submitter Inborn genetic diseases ⚠
  • p.His29Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.His378Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile105Thr Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Ile105Val Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Ile241Met Single submitter Inborn genetic diseases ⚠
  • p.Ile241Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile335Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile94Thr Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu107Pro Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu128Pro Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu200Phe Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu200Ser Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu240Val Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu264Pro Single submitter ⚠
  • p.Leu350His Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu370Phe Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Leu89Val Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Lys116Gln Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Lys276Gln Single submitter ⚠
  • p.Lys62Arg Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Lys64Gln Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Lys81Thr Single submitter Inborn genetic diseases ⚠
  • p.Met197Val Single submitter ⚠
  • p.Met204Val Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Met259Thr Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Met338Ile Single submitter Inborn genetic diseases ⚠
  • p.Met367Val Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Met55Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe163Cys Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Phe163Ser Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Phe345Ser Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Phe379Leu Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Phe414Ser Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Pro181Ala Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Pro20Leu Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Pro212Ala Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Pro383Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser175Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser183del Single submitter methylmalonic aciduria, cblA type
  • p.Ser186Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser331Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser374Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser374fs Single submitter methylmalonic aciduria, cblA type
  • p.Ser46Tyr Single submitter Inborn genetic diseases ⚠
  • p.Thr158del Single submitter
  • p.Thr158Ile Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Val121Ala Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Val244Phe Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Val286Leu Single submitter methylmalonic aciduria, cblA type
  • p.Val288Ile Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Val297Met Single submitter methylmalonic aciduria, cblA type ⚠
  • p.Val307Met Single submitter Inborn genetic diseases ⚠
  • p.Val324Ile Single submitter methylmalonic aciduria, cblA type ⚠
  • c.734-7A>G No assertion criteria methylmalonic aciduria, cblA type
  • p.Ala299Val No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Ala400Asp No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Arg170delinsLysGly No assertion criteria methylmalonic aciduria, cblA type
  • p.Arg22Leu No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Arg359Gly No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Arg360Gln No assertion criteria ⚠
  • p.Arg63Gly No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Asp193Asn No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Asp284Tyr No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Glu354_Leu355del No assertion criteria methylmalonic aciduria, cblA type
  • p.Gly147= No assertion criteria methylmalonic aciduria, cblA type
  • p.Gly147Arg No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.His9Asn No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Ile94_Gly96delinsMet No assertion criteria methylmalonic aciduria, cblA type
  • p.Leu123Phe No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Leu127= No assertion criteria methylmalonic aciduria, cblA type
  • p.Leu312= No assertion criteria methylmalonic aciduria, cblA type
  • p.Leu370Arg No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Leu4= No assertion criteria methylmalonic aciduria, cblA type
  • p.Leu5del No assertion criteria methylmalonic aciduria, cblA type
  • p.Lys125Glu No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Phe409del No assertion criteria methylmalonic aciduria, cblA type
  • p.Pro151Leu No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Pro390Leu No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Pro8Leu No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Ser182Cys No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Ser186Asn No assertion criteria methylmalonic aciduria, cblA type
  • p.Ser249Leu No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Ser308Thr No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Thr111Ser No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Thr195Asn No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Thr70Pro No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Trp368Cys No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Tyr162Cys No assertion criteria methylmalonic aciduria, cblA type ⚠
  • p.Val179Leu No assertion criteria methylmalonic aciduria, cblA type ⚠