ACSF3 — 983 ClinVar variants

All ClinVar germline ACSF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 272 flagged for review →

30 Pathogenic · 50 Pathogenic/Likely pathogenic · 84 Likely pathogenic · 23 Conflicting · 70 Benign · 10 Benign/Likely benign · 433 Likely benign · 283 Uncertain significance

Full ACSF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 272

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 11

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

ACSF3 p.Ala15Thr Conflicting Single submitter
Inborn genetic diseases
ACSF3 p.Arg469Gln Conflicting Single submitter
Inborn genetic diseases
ACSF3 p.Arg471Gln Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg471Trp Conflicting Single submitter
Inborn genetic diseases
ACSF3 p.Arg558Pro Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asn104Ile Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Glu359Lys Conflicting Single submitter
Inborn genetic diseases
ACSF3 p.Glu490Asp Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro182Leu Conflicting Single submitter
Inborn genetic diseases
ACSF3 p.Pro243Leu Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ser445Asn Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 105

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

ACSF3 p.Ala131Val Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Ala44Thr Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Ala518Asp Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg208Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Arg39His Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Asp105Asn Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Asp41Val Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Asp457Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Gly366Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Gly506Arg Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.His228Asp Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.His4Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Lys210Gln Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Met267Val Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Ser29Thr Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Thr176Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Thr358Ile Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Trp276Cys Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Ala132Asp Uncertain significance Single submitter
ACSF3 p.Ala17Thr Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala22Val Uncertain significance Single submitter
ACSF3 p.Ala253Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ala495Thr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ala568Glu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Arg220Ser Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Arg354Gln Uncertain significance Single submitter
ACSF3 p.Arg354Trp Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg39Cys Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Arg97Ser Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asn252Ile Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asn252Lys Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asn393Asp Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asp305Glu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asp315Asn Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asp41Glu Uncertain significance Single submitter
methylmalonic acidemia
ACSF3 p.Gln112His Uncertain significance Single submitter
ACSF3 p.Gln112Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gln310Arg Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Glu180Gln Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Glu81Asp Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Glu95Gln Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Gly119Asp Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly249Asp Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly261Ala Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly261Glu Uncertain significance Single submitter
ACSF3 p.Gly356Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Gly513Arg Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly562Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Gly87Arg Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly90Ser Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.His216Pro Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.His245Gln Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.His248Arg Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ile499Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ile499Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Leu213Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Leu242Arg Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Leu242Phe Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Leu31Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Leu335Gln Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Leu351Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Leu382Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Lys229Arg Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Lys483Glu Uncertain significance Single submitter
ACSF3 p.Pro124Arg Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro186Ala Uncertain significance Single submitter
ACSF3 p.Pro186Arg Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro186Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro268Ser Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro294Ser Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro294Thr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro547Ser Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ser118Thr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ser143Ile Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Thr171Ala Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Thr358Asn Uncertain significance Single submitter
ACSF3 p.Thr500Arg Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Trp452Leu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Trp512Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Tyr355Cys Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Tyr401Phe Uncertain significance Single submitter
ACSF3 p.Val212Leu Uncertain significance Single submitter
ACSF3 p.Val222Ala Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val247Ile Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val37Glu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val459Ala Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val519Gly Uncertain significance Single submitter
ACSF3 p.Val540Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val6Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala15Pro Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Arg286Gln Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.Arg56Lys Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Gln150Glu Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Gly407Arg Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.His216Gln Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Ile174Met Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.Leu317Phe Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Lys162Arg Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Met266Ile Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Ser365Phe Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Ser43Arg Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Thr205Ile Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Thr479Ser Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Val227Ile Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Val293Met Uncertain significance No assertion criteria
methylmalonic acidemia

Predictors split 156

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 156

ACSF3 p.Ala15Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Ala50Val Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Ala568Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Arg10Trp Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg11Cys Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg27Lys Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg286Trp Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg318Cys Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg318His Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg388Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Arg434Pro Uncertain significance Multiple submitters
ACSF3-related disorder
ACSF3 p.Arg49Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Arg515Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Arg558Trp Pathogenic/Likely pathogenic Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Arg84Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Arg94Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Gln133His Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Gly120Ser Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Gly225Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Ile200Met Benign/Likely benign Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Met266Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Met362Leu Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Pro169Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Pro209Ala Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Pro285Leu Benign/Likely benign Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Pro557Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Ser144Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Ser548Leu Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Thr284Met Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Thr448Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Thr67Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Val241Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Val459Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACSF3 p.Val60Gly Uncertain significance Multiple submitters
combined malonic and methylmalonic acidemia
ACSF3 p.Ala122Val Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala131Thr Conflicting Single submitter
Inborn genetic diseases
ACSF3 p.Ala197Thr Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala231Thr Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala253Glu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala253Thr Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala333Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ala363Thr Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala405Thr Likely benign Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala486Thr Likely benign Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ala495Asp Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ala542Thr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ala542Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ala545Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Arg10Gln Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg11Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg127Gly Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Arg20Trp Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg318Leu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Arg318Ser Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg373Gly Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg434Gln Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Arg558Gln Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg571Gly Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg65His Conflicting Single submitter
Inborn genetic diseases
ACSF3 p.Arg74Cys Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg74His Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Arg77Cys Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Asn252Ser Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asn288Asp Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Asp565Glu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Asp61Glu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Cys19Tyr Uncertain significance Single submitter
ACSF3 p.Gln465Arg Likely benign Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Glu181Lys Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Glu277Lys Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Glu323Gly Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Glu435Asp Uncertain significance Single submitter
ACSF3 p.Glu441Gln Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Gly120Cys Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly164Glu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly28Glu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Gly361Ser Conflicting Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.His33Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.His492Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.His526Arg Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.His572Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.His574Pro Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.His66Gln Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ile138Met Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ile296Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ile468Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ile476Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Leu254Met Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Leu31Phe Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Leu374Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Leu522Val Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Leu93Arg Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Lys195Glu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Lys413Met Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Met198Ile Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Phe53Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro158Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro166Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro336Thr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro367Arg Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro375Thr Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro430Leu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro497Ser Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Pro508Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Pro575His Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ser107Phe Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ser281Asn Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ser282Cys Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ser431Phe Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ser431Tyr Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ser498Arg Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Ser73Pro Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Thr224Ile Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Thr263Ser Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Trp536Ser Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Tyr175His Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Tyr482His Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val110Met Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val137Ala Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val145Gly Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val146Leu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val237Met Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val329Ile Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val339Ala Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val339Leu Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val339Met Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val427Ala Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val432Met Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val489Leu Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val489Met Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Val519Met Uncertain significance Single submitter
combined malonic and methylmalonic acidemia
ACSF3 p.Val553Ala Uncertain significance Single submitter
Inborn genetic diseases
ACSF3 p.Ala106Val Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Arg77Leu Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Asp41Tyr Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Asp565Asn Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Asp92Asn Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Glu524Gly Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.Gly348Asp Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.Gly64Ser Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.His404Gln Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Leu280Phe Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Leu533Ile Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Leu93His Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.Lys234Ile Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.Lys299Met Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Pro130Ser Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Pro45Leu Uncertain significance No assertion criteria
methylmalonic acidemia
ACSF3 p.Thr263Pro Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia
ACSF3 p.Thr298Ala Uncertain significance No assertion criteria
combined malonic and methylmalonic acidemia

All ACSF3 variants

Pathogenic 30

p.Arg523Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Gly525Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Tyr482_Lys483delinsTer Multiple submitters combined malonic and methylmalonic acidemia
c.1613+2T>C Single submitter combined malonic and methylmalonic acidemia
p.Arg318fs Single submitter combined malonic and methylmalonic acidemia
p.Arg74fs Single submitter combined malonic and methylmalonic acidemia
p.Gln150Ter Single submitter combined malonic and methylmalonic acidemia
p.Gln310Ter Single submitter combined malonic and methylmalonic acidemia
p.Gln395Ter Single submitter combined malonic and methylmalonic acidemia
p.Gln80fs Single submitter combined malonic and methylmalonic acidemia
p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer Single submitter combined malonic and methylmalonic acidemia
p.Glu135fs Single submitter combined malonic and methylmalonic acidemia
p.Glu302Ter Single submitter combined malonic and methylmalonic acidemia
p.Glu397fs Single submitter combined malonic and methylmalonic acidemia
p.Glu535fs Single submitter combined malonic and methylmalonic acidemia
p.Glu96Ter Single submitter combined malonic and methylmalonic acidemia
p.Gly407Ter Single submitter combined malonic and methylmalonic acidemia
p.His66fs Single submitter combined malonic and methylmalonic acidemia
p.Ile325fs Single submitter combined malonic and methylmalonic acidemia
p.Leu226fs Single submitter combined malonic and methylmalonic acidemia
p.Met301fs Single submitter combined malonic and methylmalonic acidemia
p.Pro272fs Single submitter combined malonic and methylmalonic acidemia
p.Ser548Ter Single submitter combined malonic and methylmalonic acidemia
p.Ser99fs Single submitter combined malonic and methylmalonic acidemia
p.Thr369fs Single submitter combined malonic and methylmalonic acidemia
p.Thr380fs Single submitter combined malonic and methylmalonic acidemia
p.Trp343Ter Single submitter combined malonic and methylmalonic acidemia
p.Tyr297fs Single submitter combined malonic and methylmalonic acidemia
p.Tyr544Ter Single submitter combined malonic and methylmalonic acidemia
c.1239+2T>G No assertion criteria combined malonic and methylmalonic acidemia

Pathogenic/Likely pathogenic 50

c.1502-2A>G Multiple submitters combined malonic and methylmalonic acidemia
c.1613+1G>A Multiple submitters combined malonic and methylmalonic acidemia
c.666+1G>A Multiple submitters combined malonic and methylmalonic acidemia
p.Ala253fs Multiple submitters combined malonic and methylmalonic acidemia
p.Ala371fs Multiple submitters combined malonic and methylmalonic acidemia
p.Ala52fs Multiple submitters combined malonic and methylmalonic acidemia
p.Ala537fs Multiple submitters combined malonic and methylmalonic acidemia
p.Arg410fs Multiple submitters combined malonic and methylmalonic acidemia
p.Arg434fs Multiple submitters combined malonic and methylmalonic acidemia
p.Arg434Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Arg469Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Arg558Trp Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Cys83fs Multiple submitters combined malonic and methylmalonic acidemia
p.Cys88fs Multiple submitters combined malonic and methylmalonic acidemia
p.Gln142Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Gln273Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Gln274Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Gln314Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Gln395fs Multiple submitters combined malonic and methylmalonic acidemia
p.Gln62Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Gln80Ter Multiple submitters ACSF3-related disorder
p.Glu151Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Glu424fs Multiple submitters combined malonic and methylmalonic acidemia
p.Glu549Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Gly261Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Leu335fs Multiple submitters combined malonic and methylmalonic acidemia
p.Lys195Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Lys444Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Pro268fs Multiple submitters combined malonic and methylmalonic acidemia
p.Pro45fs Multiple submitters combined malonic and methylmalonic acidemia
p.Ser391Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Ser498fs Multiple submitters combined malonic and methylmalonic acidemia
p.Ser527Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Thr215fs Multiple submitters combined malonic and methylmalonic acidemia
p.Thr443fs Multiple submitters combined malonic and methylmalonic acidemia
p.Trp116Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp192Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp230Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp276Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp437Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp467Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp512Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp536Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Tyr136Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Tyr297Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Tyr303Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Val289fs Multiple submitters combined malonic and methylmalonic acidemia
p.Val460fs Multiple submitters combined malonic and methylmalonic acidemia
p.Val516fs Multiple submitters combined malonic and methylmalonic acidemia
p.Val6fs Multiple submitters combined malonic and methylmalonic acidemia

Likely pathogenic 84

c.1366+1G>A Multiple submitters combined malonic and methylmalonic acidemia
c.1501+1G>A Multiple submitters combined malonic and methylmalonic acidemia
c.1501+1G>T Multiple submitters combined malonic and methylmalonic acidemia
c.666+1G>T Multiple submitters combined malonic and methylmalonic acidemia
c.667-2A>G Multiple submitters combined malonic and methylmalonic acidemia
c.822+1G>A Multiple submitters combined malonic and methylmalonic acidemia
c.822+2T>C Multiple submitters combined malonic and methylmalonic acidemia
c.977+1G>A Multiple submitters combined malonic and methylmalonic acidemia
c.977+1G>C Multiple submitters combined malonic and methylmalonic acidemia
c.977+1G>T Multiple submitters combined malonic and methylmalonic acidemia
c.978-1G>A Multiple submitters combined malonic and methylmalonic acidemia
c.978-2A>G Multiple submitters combined malonic and methylmalonic acidemia
p.Ala173fs Multiple submitters combined malonic and methylmalonic acidemia
p.Ala542fs Multiple submitters combined malonic and methylmalonic acidemia
p.Glu435Ter Multiple submitters combined malonic and methylmalonic acidemia
p.His526fs Multiple submitters combined malonic and methylmalonic acidemia
p.Leu522fs Multiple submitters combined malonic and methylmalonic acidemia
p.Met198Arg Multiple submitters combined malonic and methylmalonic acidemia
p.Phe573fs Multiple submitters combined malonic and methylmalonic acidemia
p.Ser40Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Trp232Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Tyr136fs Multiple submitters combined malonic and methylmalonic acidemia
p.Tyr401Ter Multiple submitters combined malonic and methylmalonic acidemia
p.Tyr544fs Multiple submitters combined malonic and methylmalonic acidemia
p.Val212Met Multiple submitters combined malonic and methylmalonic acidemia
p.Val484fs Multiple submitters combined malonic and methylmalonic acidemia
c.1127-2A>T Single submitter combined malonic and methylmalonic acidemia
c.1231_1239+9del Single submitter combined malonic and methylmalonic acidemia
c.1239+1G>A Single submitter combined malonic and methylmalonic acidemia
c.1240-1G>A Single submitter combined malonic and methylmalonic acidemia
c.1240-1G>C Single submitter combined malonic and methylmalonic acidemia
c.1366+1G>T Single submitter combined malonic and methylmalonic acidemia
c.1367-2_1367-1del Single submitter combined malonic and methylmalonic acidemia
c.1367-2A>C Single submitter combined malonic and methylmalonic acidemia
c.1367-41_1398delinsATCCG Single submitter combined malonic and methylmalonic acidemia
c.1502-1G>C Single submitter combined malonic and methylmalonic acidemia
c.667-1G>A Single submitter combined malonic and methylmalonic acidemia
c.667-1G>T Single submitter combined malonic and methylmalonic acidemia
c.823-1G>A Single submitter combined malonic and methylmalonic acidemia
c.977+2T>C Single submitter combined malonic and methylmalonic acidemia
p.Ala398fs Single submitter combined malonic and methylmalonic acidemia
p.Ala50fs Single submitter combined malonic and methylmalonic acidemia
p.Asn218fs Single submitter combined malonic and methylmalonic acidemia
p.Asp236Asn Single submitter
p.Cys102fs Single submitter combined malonic and methylmalonic acidemia
p.Gln133Ter Single submitter combined malonic and methylmalonic acidemia
p.Gln465_Gly470del Single submitter combined malonic and methylmalonic acidemia
p.Glu135Ter Single submitter combined malonic and methylmalonic acidemia
p.Glu189fs Single submitter combined malonic and methylmalonic acidemia
p.Glu277Ter Single submitter combined malonic and methylmalonic acidemia
p.Glu323fs Single submitter combined malonic and methylmalonic acidemia
p.Glu442Ter Single submitter combined malonic and methylmalonic acidemia
p.Glu490Val Single submitter combined malonic and methylmalonic acidemia
p.Glu555fs Single submitter combined malonic and methylmalonic acidemia
p.Gly470fs Single submitter combined malonic and methylmalonic acidemia
p.Gly513fs Single submitter combined malonic and methylmalonic acidemia
p.Gly64fs Single submitter combined malonic and methylmalonic acidemia
p.His496fs Single submitter combined malonic and methylmalonic acidemia
p.Ile477fs Single submitter combined malonic and methylmalonic acidemia
p.Lys162Ter Single submitter combined malonic and methylmalonic acidemia
p.Lys210Ter Single submitter combined malonic and methylmalonic acidemia
p.Met1Ile Single submitter combined malonic and methylmalonic acidemia
p.Met1Leu Single submitter combined malonic and methylmalonic acidemia
p.Met267fs Single submitter combined malonic and methylmalonic acidemia
p.Met561fs Single submitter combined malonic and methylmalonic acidemia
p.Phe316fs Single submitter combined malonic and methylmalonic acidemia
p.Pro158fs Single submitter combined malonic and methylmalonic acidemia
p.Pro367_Leu368insTer Single submitter combined malonic and methylmalonic acidemia
p.Pro381fs Single submitter combined malonic and methylmalonic acidemia
p.Pro416fs Single submitter combined malonic and methylmalonic acidemia
p.Pro543fs Single submitter combined malonic and methylmalonic acidemia
p.Pro557fs Single submitter combined malonic and methylmalonic acidemia
p.Ser115Ter Single submitter combined malonic and methylmalonic acidemia
p.Ser330Ter Single submitter combined malonic and methylmalonic acidemia
p.Ser445fs Single submitter combined malonic and methylmalonic acidemia
p.Thr412fs Single submitter combined malonic and methylmalonic acidemia
p.Trp259Ter Single submitter combined malonic and methylmalonic acidemia
p.Tyr72Ter Single submitter combined malonic and methylmalonic acidemia
p.Val250fs Single submitter combined malonic and methylmalonic acidemia
p.Val372fs Single submitter combined malonic and methylmalonic acidemia
p.Val432fs Single submitter combined malonic and methylmalonic acidemia
p.Val460_Phe461insTer Single submitter combined malonic and methylmalonic acidemia
p.Val46fs Single submitter combined malonic and methylmalonic acidemia
p.Val89fs Single submitter combined malonic and methylmalonic acidemia

Conflicting classifications of pathogenicity 23

c.1367-23_1396del Single submitter combined malonic and methylmalonic acidemia
c.1614-2A>G Single submitter combined malonic and methylmalonic acidemia
p.Ala131Thr Single submitter Inborn genetic diseases ⚠
p.Ala15Thr Single submitter Inborn genetic diseases ⚠
p.Ala197Thr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg469Gln Single submitter Inborn genetic diseases ⚠
p.Arg471Gln Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg471Trp Single submitter Inborn genetic diseases ⚠
p.Arg558Gln Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg558Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg65His Single submitter Inborn genetic diseases ⚠
p.Asn104Ile Single submitter combined malonic and methylmalonic acidemia ⚠
p.Glu359Lys Single submitter Inborn genetic diseases ⚠
p.Glu490Asp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly361Ser Single submitter combined malonic and methylmalonic acidemia ⚠
p.Lys462_Arg469delinsThrAsp Single submitter combined malonic and methylmalonic acidemia
p.Met1Val Single submitter ACSF3-related disorder
p.Pro182Leu Single submitter Inborn genetic diseases ⚠
p.Pro243Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro557= Single submitter Inborn genetic diseases
p.Ser445Asn Single submitter Inborn genetic diseases ⚠
c.*10C>T No assertion criteria methylmalonic acidemia
c.*4G>A No assertion criteria methylmalonic acidemia

Benign 70

c.1126+117G>A Multiple submitters
c.1126+244T>G Multiple submitters
c.1126+40G>T Multiple submitters combined malonic and methylmalonic acidemia
c.1126+4C>T Multiple submitters combined malonic and methylmalonic acidemia
c.1239+57G>C Multiple submitters combined malonic and methylmalonic acidemia
c.1367-13C>G Multiple submitters combined malonic and methylmalonic acidemia
c.1367-183G>A Multiple submitters
c.1367-195C>T Multiple submitters
c.1367-6C>T Multiple submitters combined malonic and methylmalonic acidemia
c.1502-11_1502-9del Multiple submitters combined malonic and methylmalonic acidemia
c.1502-146A>G Multiple submitters combined malonic and methylmalonic acidemia
c.1502-64A>T Multiple submitters
c.1614-220T>C Multiple submitters
c.1614-25C>T Multiple submitters
c.1614-321G>A Multiple submitters
c.1614-338C>G Multiple submitters
c.666+195G>A Multiple submitters combined malonic and methylmalonic acidemia
c.666+199T>C Multiple submitters combined malonic and methylmalonic acidemia
c.666+37C>T Multiple submitters combined malonic and methylmalonic acidemia
c.666+73C>T Multiple submitters
c.667-101T>C Multiple submitters combined malonic and methylmalonic acidemia
c.667-12C>T Multiple submitters combined malonic and methylmalonic acidemia
c.667-287A>G Multiple submitters
c.667-289C>T Multiple submitters
c.667-31T>C Multiple submitters combined malonic and methylmalonic acidemia
c.667-77G>C Multiple submitters combined malonic and methylmalonic acidemia
c.822+106T>C Multiple submitters
c.822+117G>A Multiple submitters
c.822+145T>C Multiple submitters combined malonic and methylmalonic acidemia
c.822+38C>G Multiple submitters combined malonic and methylmalonic acidemia
c.822+53_822+54del Multiple submitters combined malonic and methylmalonic acidemia
c.823-26T>C Multiple submitters combined malonic and methylmalonic acidemia
c.823-52C>T Multiple submitters
c.823-6T>C Multiple submitters combined malonic and methylmalonic acidemia
c.977+119A>G Multiple submitters
c.978-52C>T Multiple submitters
c.978-83C>G Multiple submitters combined malonic and methylmalonic acidemia
c.-14_-13insCCAGGAGGCTCCCGGGAGC Multiple submitters
c.-193-25C>A Multiple submitters
c.-194+48A>G Multiple submitters
c.-20-129C>T Multiple submitters combined malonic and methylmalonic acidemia
c.-20-4C>G Multiple submitters combined malonic and methylmalonic acidemia
c.-20-82G>A Multiple submitters
c.-269C>G Multiple submitters
c.*231G>A Multiple submitters
c.*265C>A Multiple submitters
c.*73C>T Multiple submitters
p.Ala114= Multiple submitters combined malonic and methylmalonic acidemia
p.Ala17Pro Multiple submitters combined malonic and methylmalonic acidemia
p.Asp105= Multiple submitters combined malonic and methylmalonic acidemia
p.Cys102= Multiple submitters combined malonic and methylmalonic acidemia
p.Ser118= Multiple submitters combined malonic and methylmalonic acidemia
p.Val372Met Multiple submitters combined malonic and methylmalonic acidemia
p.Val378= Multiple submitters combined malonic and methylmalonic acidemia
c.1127-341C>T Single submitter
c.1239+1351C>A Single submitter combined malonic and methylmalonic acidemia
c.1240-339G>A Single submitter
c.1366+220C>G Single submitter
c.1367-222G>A Single submitter
c.1367-264A>T Single submitter
c.1501+210A>G Single submitter
c.1613+16del Single submitter combined malonic and methylmalonic acidemia
c.1614-12T>C Single submitter combined malonic and methylmalonic acidemia
c.977+185T>C Single submitter
c.-193-14A>G Single submitter
c.-20-21C>A Single submitter
c.-20-238G>A Single submitter
c.-20-263A>G Single submitter
p.Arg193= Single submitter combined malonic and methylmalonic acidemia
p.Tyr466= Single submitter combined malonic and methylmalonic acidemia

Benign/Likely benign 10

c.1240-22C>T Multiple submitters
c.666+20G>A Multiple submitters combined malonic and methylmalonic acidemia
c.667-13T>C Multiple submitters combined malonic and methylmalonic acidemia
c.822+18C>T Multiple submitters combined malonic and methylmalonic acidemia
p.Glu95= Multiple submitters combined malonic and methylmalonic acidemia
p.Ile200Met Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Pro285Leu Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Ser377= Multiple submitters combined malonic and methylmalonic acidemia
p.Thr284= Multiple submitters combined malonic and methylmalonic acidemia
p.Val137= Multiple submitters combined malonic and methylmalonic acidemia

Likely benign 433

Showing the top 300 by review status; the full set is in the sitemap.

c.1239+9C>G Multiple submitters combined malonic and methylmalonic acidemia
c.1367-67C>T Multiple submitters
c.1501+11G>A Multiple submitters combined malonic and methylmalonic acidemia
c.1502-18C>G Multiple submitters combined malonic and methylmalonic acidemia
c.1502-4G>A Multiple submitters Inborn genetic diseases
c.1502-5C>T Multiple submitters combined malonic and methylmalonic acidemia
c.1613+17C>T Multiple submitters combined malonic and methylmalonic acidemia
c.1614-10G>C Multiple submitters combined malonic and methylmalonic acidemia
c.1614-118G>A Multiple submitters
c.1614-6C>T Multiple submitters combined malonic and methylmalonic acidemia
c.667-14C>T Multiple submitters combined malonic and methylmalonic acidemia
c.667-9C>T Multiple submitters combined malonic and methylmalonic acidemia
c.978-6G>A Multiple submitters combined malonic and methylmalonic acidemia
c.978-7C>T Multiple submitters combined malonic and methylmalonic acidemia
c.-194+20C>G Multiple submitters
c.-194+57G>A Multiple submitters
c.-194+84T>A Multiple submitters
c.*66G>T Multiple submitters
p.Ala371= Multiple submitters combined malonic and methylmalonic acidemia
p.Asn104= Multiple submitters combined malonic and methylmalonic acidemia
p.Asn252= Multiple submitters combined malonic and methylmalonic acidemia
p.Cys86= Multiple submitters combined malonic and methylmalonic acidemia
p.Glu422= Multiple submitters combined malonic and methylmalonic acidemia
p.Gly119= Multiple submitters combined malonic and methylmalonic acidemia
p.Leu12= Multiple submitters combined malonic and methylmalonic acidemia
p.Pro182= Multiple submitters combined malonic and methylmalonic acidemia
p.Pro367= Multiple submitters combined malonic and methylmalonic acidemia
p.Ser365= Multiple submitters combined malonic and methylmalonic acidemia
p.Thr521Ser Multiple submitters combined malonic and methylmalonic acidemia
p.Thr67= Multiple submitters combined malonic and methylmalonic acidemia
p.Val109= Multiple submitters combined malonic and methylmalonic acidemia
c.1126+10C>T Single submitter combined malonic and methylmalonic acidemia
c.1126+15C>T Single submitter combined malonic and methylmalonic acidemia
c.1126+18A>C Single submitter combined malonic and methylmalonic acidemia
c.1127-12C>G Single submitter combined malonic and methylmalonic acidemia
c.1127-12C>T Single submitter combined malonic and methylmalonic acidemia
c.1127-14C>A Single submitter combined malonic and methylmalonic acidemia
c.1127-14C>G Single submitter combined malonic and methylmalonic acidemia
c.1127-18G>A Single submitter combined malonic and methylmalonic acidemia
c.1127-4G>A Single submitter combined malonic and methylmalonic acidemia
c.1127-5T>C Single submitter combined malonic and methylmalonic acidemia
c.1127-7C>A Single submitter combined malonic and methylmalonic acidemia
c.1127-7C>G Single submitter combined malonic and methylmalonic acidemia
c.1127-9C>T Single submitter combined malonic and methylmalonic acidemia
c.1239+10T>C Single submitter combined malonic and methylmalonic acidemia
c.1239+11C>A Single submitter combined malonic and methylmalonic acidemia
c.1239+11C>G Single submitter combined malonic and methylmalonic acidemia
c.1239+13G>A Single submitter combined malonic and methylmalonic acidemia
c.1239+13G>C Single submitter combined malonic and methylmalonic acidemia
c.1239+14C>T Single submitter combined malonic and methylmalonic acidemia
c.1239+19G>A Single submitter combined malonic and methylmalonic acidemia
c.1239+20G>A Single submitter combined malonic and methylmalonic acidemia
c.1239+20G>C Single submitter combined malonic and methylmalonic acidemia
c.1239+7C>T Single submitter combined malonic and methylmalonic acidemia
c.1239+81C>T Single submitter
c.1239+8A>T Single submitter combined malonic and methylmalonic acidemia
c.1240-11A>C Single submitter combined malonic and methylmalonic acidemia
c.1240-130C>T Single submitter
c.1240-15C>G Single submitter combined malonic and methylmalonic acidemia
c.1240-17T>C Single submitter combined malonic and methylmalonic acidemia
c.1240-18G>A Single submitter combined malonic and methylmalonic acidemia
c.1240-199G>A Single submitter
c.1240-19T>C Single submitter combined malonic and methylmalonic acidemia
c.1240-20A>G Single submitter combined malonic and methylmalonic acidemia
c.1240-6C>T Single submitter combined malonic and methylmalonic acidemia
c.1240-7T>G Single submitter combined malonic and methylmalonic acidemia
c.1240-8C>T Single submitter combined malonic and methylmalonic acidemia
c.1366+11_1366+16del Single submitter combined malonic and methylmalonic acidemia
c.1366+11G>C Single submitter combined malonic and methylmalonic acidemia
c.1366+12C>T Single submitter combined malonic and methylmalonic acidemia
c.1366+15C>T Single submitter combined malonic and methylmalonic acidemia
c.1366+16A>G Single submitter combined malonic and methylmalonic acidemia
c.1366+17T>C Single submitter combined malonic and methylmalonic acidemia
c.1366+8C>T Single submitter combined malonic and methylmalonic acidemia
c.1366+9C>G Single submitter combined malonic and methylmalonic acidemia
c.1366+9C>T Single submitter combined malonic and methylmalonic acidemia
c.1367-11C>T Single submitter combined malonic and methylmalonic acidemia
c.1367-13C>A Single submitter combined malonic and methylmalonic acidemia
c.1367-13C>T Single submitter combined malonic and methylmalonic acidemia
c.1367-15G>T Single submitter combined malonic and methylmalonic acidemia
c.1367-18A>G Single submitter combined malonic and methylmalonic acidemia
c.1367-36_1367-7del Single submitter combined malonic and methylmalonic acidemia
c.1367-4T>A Single submitter combined malonic and methylmalonic acidemia
c.1367-8T>A Single submitter combined malonic and methylmalonic acidemia
c.1501+10C>T Single submitter combined malonic and methylmalonic acidemia
c.1501+12G>A Single submitter combined malonic and methylmalonic acidemia
c.1501+18G>A Single submitter combined malonic and methylmalonic acidemia
c.1501+20C>T Single submitter combined malonic and methylmalonic acidemia
c.1501+41G>A Single submitter
c.1502-10C>T Single submitter combined malonic and methylmalonic acidemia
c.1502-13C>T Single submitter combined malonic and methylmalonic acidemia
c.1502-16G>T Single submitter combined malonic and methylmalonic acidemia
c.1502-20A>G Single submitter combined malonic and methylmalonic acidemia
c.1502-6C>A Single submitter combined malonic and methylmalonic acidemia
c.1502-8A>C Single submitter combined malonic and methylmalonic acidemia
c.1502-8A>G Single submitter combined malonic and methylmalonic acidemia
c.1613+12T>G Single submitter
c.1613+18G>A Single submitter combined malonic and methylmalonic acidemia
c.1613+20G>T Single submitter combined malonic and methylmalonic acidemia
c.1613+7C>T Single submitter combined malonic and methylmalonic acidemia
c.1613+8T>G Single submitter combined malonic and methylmalonic acidemia
c.1613+9G>T Single submitter combined malonic and methylmalonic acidemia
c.1614-16G>A Single submitter combined malonic and methylmalonic acidemia
c.1614-19G>A Single submitter combined malonic and methylmalonic acidemia
c.1614-7T>C Single submitter combined malonic and methylmalonic acidemia
c.1614-8C>G Single submitter combined malonic and methylmalonic acidemia
c.1614-8C>T Single submitter combined malonic and methylmalonic acidemia
c.666+10G>A Single submitter combined malonic and methylmalonic acidemia
c.666+10G>C Single submitter combined malonic and methylmalonic acidemia
c.666+10G>T Single submitter combined malonic and methylmalonic acidemia
c.666+12C>A Single submitter combined malonic and methylmalonic acidemia
c.666+12C>T Single submitter combined malonic and methylmalonic acidemia
c.666+16C>T Single submitter combined malonic and methylmalonic acidemia
c.666+17G>A Single submitter combined malonic and methylmalonic acidemia
c.666+19C>G Single submitter combined malonic and methylmalonic acidemia
c.666+19C>T Single submitter combined malonic and methylmalonic acidemia
c.666+52G>A Single submitter
c.666+9C>T Single submitter combined malonic and methylmalonic acidemia
c.667-10T>C Single submitter combined malonic and methylmalonic acidemia
c.667-11G>A Single submitter combined malonic and methylmalonic acidemia
c.667-14C>G Single submitter combined malonic and methylmalonic acidemia
c.667-19G>A Single submitter combined malonic and methylmalonic acidemia
c.667-4G>A Single submitter combined malonic and methylmalonic acidemia
c.667-6C>G Single submitter combined malonic and methylmalonic acidemia
c.667-7C>T Single submitter combined malonic and methylmalonic acidemia
c.667-9C>A Single submitter combined malonic and methylmalonic acidemia
c.667-9C>G Single submitter combined malonic and methylmalonic acidemia
c.822+10G>A Single submitter combined malonic and methylmalonic acidemia
c.822+10G>C Single submitter combined malonic and methylmalonic acidemia
c.822+12_822+61del Single submitter combined malonic and methylmalonic acidemia
c.822+12dup Single submitter combined malonic and methylmalonic acidemia
c.822+15G>A Single submitter combined malonic and methylmalonic acidemia
c.822+16G>C Single submitter combined malonic and methylmalonic acidemia
c.822+17G>A Single submitter combined malonic and methylmalonic acidemia
c.822+22C>T Single submitter
c.822+9G>C Single submitter combined malonic and methylmalonic acidemia
c.823-17C>G Single submitter combined malonic and methylmalonic acidemia
c.823-18G>T Single submitter combined malonic and methylmalonic acidemia
c.823-19T>C Single submitter combined malonic and methylmalonic acidemia
c.823-27_823-26insCACCGAGTGCTTCCTTTCCTCCGCCGCCGTGGGTCTCTGCCTGCTCATCTTCC Single submitter
c.823-4G>A Single submitter combined malonic and methylmalonic acidemia
c.823-4G>C Single submitter combined malonic and methylmalonic acidemia
c.823-5C>T Single submitter combined malonic and methylmalonic acidemia
c.823-7T>A Single submitter combined malonic and methylmalonic acidemia
c.823-8C>G Single submitter combined malonic and methylmalonic acidemia
c.977+18A>G Single submitter combined malonic and methylmalonic acidemia
c.978-11_978-9del Single submitter combined malonic and methylmalonic acidemia
c.978-19C>G Single submitter combined malonic and methylmalonic acidemia
c.978-19C>T Single submitter combined malonic and methylmalonic acidemia
c.978-20C>T Single submitter combined malonic and methylmalonic acidemia
c.978-4G>A Single submitter combined malonic and methylmalonic acidemia
c.978-5C>T Single submitter combined malonic and methylmalonic acidemia
c.978-6G>T Single submitter combined malonic and methylmalonic acidemia
c.-15C>G Single submitter
c.-187C>T Single submitter
c.-193-5G>C Single submitter
c.-194+14G>C Single submitter
c.-20-11C>A Single submitter
c.-20-6C>G Single submitter
c.-22G>C Single submitter
c.-29G>C Single submitter
c.-30C>A Single submitter
c.-30C>G Single submitter
c.-36C>T Single submitter
p.Ala111= Single submitter combined malonic and methylmalonic acidemia
p.Ala122= Single submitter combined malonic and methylmalonic acidemia
p.Ala131= Single submitter combined malonic and methylmalonic acidemia
p.Ala132= Single submitter combined malonic and methylmalonic acidemia
p.Ala148= Single submitter combined malonic and methylmalonic acidemia
p.Ala15= Single submitter combined malonic and methylmalonic acidemia
p.Ala17= Single submitter combined malonic and methylmalonic acidemia
p.Ala183= Single submitter combined malonic and methylmalonic acidemia
p.Ala197= Single submitter combined malonic and methylmalonic acidemia
p.Ala22= Single submitter combined malonic and methylmalonic acidemia
p.Ala221= Single submitter combined malonic and methylmalonic acidemia
p.Ala231= Single submitter combined malonic and methylmalonic acidemia
p.Ala24= Single submitter combined malonic and methylmalonic acidemia
p.Ala24Val Single submitter Inborn genetic diseases
p.Ala253= Single submitter combined malonic and methylmalonic acidemia
p.Ala262= Single submitter combined malonic and methylmalonic acidemia
p.Ala292= Single submitter combined malonic and methylmalonic acidemia
p.Ala313= Single submitter combined malonic and methylmalonic acidemia
p.Ala319= Single submitter combined malonic and methylmalonic acidemia
p.Ala333= Single submitter combined malonic and methylmalonic acidemia
p.Ala35= Single submitter combined malonic and methylmalonic acidemia
p.Ala398= Single submitter combined malonic and methylmalonic acidemia
p.Ala405= Single submitter combined malonic and methylmalonic acidemia
p.Ala405Thr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala44= Single submitter combined malonic and methylmalonic acidemia
p.Ala486= Single submitter combined malonic and methylmalonic acidemia
p.Ala486Thr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala518= Single submitter combined malonic and methylmalonic acidemia
p.Ala52= Single submitter combined malonic and methylmalonic acidemia
p.Ala537= Single submitter combined malonic and methylmalonic acidemia
p.Ala545= Single submitter combined malonic and methylmalonic acidemia
p.Ala568= Single submitter combined malonic and methylmalonic acidemia
p.Arg11= Single submitter combined malonic and methylmalonic acidemia
p.Arg161= Single submitter combined malonic and methylmalonic acidemia
p.Arg20= Single submitter combined malonic and methylmalonic acidemia
p.Arg25= Single submitter combined malonic and methylmalonic acidemia
p.Arg27= Single submitter combined malonic and methylmalonic acidemia
p.Arg286= Single submitter combined malonic and methylmalonic acidemia
p.Arg306= Single submitter combined malonic and methylmalonic acidemia
p.Arg354= Single submitter combined malonic and methylmalonic acidemia
p.Arg373= Single submitter combined malonic and methylmalonic acidemia
p.Arg388= Single submitter combined malonic and methylmalonic acidemia
p.Arg39= Single submitter combined malonic and methylmalonic acidemia
p.Arg396= Single submitter combined malonic and methylmalonic acidemia
p.Arg410= Single submitter combined malonic and methylmalonic acidemia
p.Arg469= Single submitter combined malonic and methylmalonic acidemia
p.Arg471= Single submitter combined malonic and methylmalonic acidemia
p.Arg49= Single submitter combined malonic and methylmalonic acidemia
p.Arg515= Single submitter combined malonic and methylmalonic acidemia
p.Arg523Gln Single submitter Inborn genetic diseases
p.Arg77= Single submitter combined malonic and methylmalonic acidemia
p.Arg84= Single submitter combined malonic and methylmalonic acidemia
p.Arg94= Single submitter combined malonic and methylmalonic acidemia
p.Asn194= Single submitter combined malonic and methylmalonic acidemia
p.Asn288= Single submitter combined malonic and methylmalonic acidemia
p.Asn539= Single submitter combined malonic and methylmalonic acidemia
p.Asp235= Single submitter combined malonic and methylmalonic acidemia
p.Asp236= Single submitter combined malonic and methylmalonic acidemia
p.Asp408= Single submitter combined malonic and methylmalonic acidemia
p.Asp41= Single submitter combined malonic and methylmalonic acidemia
p.Asp475= Single submitter combined malonic and methylmalonic acidemia
p.Asp565= Single submitter combined malonic and methylmalonic acidemia
p.Cys139= Single submitter combined malonic and methylmalonic acidemia
p.Cys14= Single submitter combined malonic and methylmalonic acidemia
p.Cys264= Single submitter combined malonic and methylmalonic acidemia
p.Cys399= Single submitter combined malonic and methylmalonic acidemia
p.Gln133= Single submitter combined malonic and methylmalonic acidemia
p.Gln465= Single submitter combined malonic and methylmalonic acidemia
p.Gln465Arg Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gln514= Single submitter combined malonic and methylmalonic acidemia
p.Glu151= Single submitter combined malonic and methylmalonic acidemia
p.Glu180= Single submitter combined malonic and methylmalonic acidemia
p.Glu277= Single submitter combined malonic and methylmalonic acidemia
p.Glu302= Single submitter combined malonic and methylmalonic acidemia
p.Glu409= Single submitter combined malonic and methylmalonic acidemia
p.Glu419= Single submitter combined malonic and methylmalonic acidemia
p.Glu420= Single submitter combined malonic and methylmalonic acidemia
p.Glu435= Single submitter combined malonic and methylmalonic acidemia
p.Glu532= Single submitter combined malonic and methylmalonic acidemia
p.Glu535= Single submitter combined malonic and methylmalonic acidemia
p.Glu555= Single submitter combined malonic and methylmalonic acidemia
p.Gly191= Single submitter combined malonic and methylmalonic acidemia
p.Gly196= Single submitter combined malonic and methylmalonic acidemia
p.Gly204= Single submitter combined malonic and methylmalonic acidemia
p.Gly211= Single submitter combined malonic and methylmalonic acidemia
p.Gly249= Single submitter combined malonic and methylmalonic acidemia
p.Gly28= Single submitter combined malonic and methylmalonic acidemia
p.Gly331= Single submitter combined malonic and methylmalonic acidemia
p.Gly348= Single submitter combined malonic and methylmalonic acidemia
p.Gly366= Single submitter combined malonic and methylmalonic acidemia
p.Gly411= Single submitter combined malonic and methylmalonic acidemia
p.Gly417= Single submitter combined malonic and methylmalonic acidemia
p.Gly451= Single submitter combined malonic and methylmalonic acidemia
p.Gly456= Single submitter combined malonic and methylmalonic acidemia
p.Gly464= Single submitter combined malonic and methylmalonic acidemia
p.Gly470= Single submitter combined malonic and methylmalonic acidemia
p.Gly54= Single submitter combined malonic and methylmalonic acidemia
p.Gly64= Single submitter combined malonic and methylmalonic acidemia
p.Gly87= Single submitter combined malonic and methylmalonic acidemia
p.His129= Single submitter combined malonic and methylmalonic acidemia
p.His216= Single submitter combined malonic and methylmalonic acidemia
p.His240= Single submitter combined malonic and methylmalonic acidemia
p.His245= Single submitter combined malonic and methylmalonic acidemia
p.His246= Single submitter combined malonic and methylmalonic acidemia
p.His312= Single submitter combined malonic and methylmalonic acidemia
p.His4= Single submitter combined malonic and methylmalonic acidemia
p.His404= Single submitter combined malonic and methylmalonic acidemia
p.His492= Single submitter combined malonic and methylmalonic acidemia
p.His572= Single submitter combined malonic and methylmalonic acidemia
p.His574= Single submitter combined malonic and methylmalonic acidemia
p.His63= Single submitter combined malonic and methylmalonic acidemia
p.Ile200= Single submitter combined malonic and methylmalonic acidemia
p.Ile219= Single submitter combined malonic and methylmalonic acidemia
p.Ile238= Single submitter combined malonic and methylmalonic acidemia
p.Ile287= Single submitter combined malonic and methylmalonic acidemia
p.Ile360= Single submitter combined malonic and methylmalonic acidemia
p.Ile403= Single submitter combined malonic and methylmalonic acidemia
p.Ile477= Single submitter combined malonic and methylmalonic acidemia
p.Ile57= Single submitter combined malonic and methylmalonic acidemia
p.Ile570= Single submitter combined malonic and methylmalonic acidemia
p.Leu101= Single submitter combined malonic and methylmalonic acidemia
p.Leu155= Single submitter combined malonic and methylmalonic acidemia
p.Leu156= Single submitter combined malonic and methylmalonic acidemia
p.Leu167= Single submitter combined malonic and methylmalonic acidemia
p.Leu168= Single submitter combined malonic and methylmalonic acidemia
p.Leu170= Single submitter combined malonic and methylmalonic acidemia
p.Leu21Pro Single submitter Inborn genetic diseases
p.Leu226= Single submitter combined malonic and methylmalonic acidemia
p.Leu242= Single submitter combined malonic and methylmalonic acidemia
p.Leu244= Single submitter combined malonic and methylmalonic acidemia
p.Leu254= Single submitter combined malonic and methylmalonic acidemia
p.Leu255= Single submitter combined malonic and methylmalonic acidemia
p.Leu280= Single submitter combined malonic and methylmalonic acidemia
p.Leu2Pro Single submitter combined malonic and methylmalonic acidemia
p.Leu300= Single submitter combined malonic and methylmalonic acidemia
p.Leu335= Single submitter combined malonic and methylmalonic acidemia

Uncertain significance 283

c.1126+5G>C Multiple submitters combined malonic and methylmalonic acidemia
c.1366+3A>G Multiple submitters Inborn genetic diseases
c.1501+4C>T Multiple submitters combined malonic and methylmalonic acidemia
p.Ala131Val Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Ala15Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala44Thr Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Ala50Val Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Ala518Asp Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Ala568Val Multiple submitters Inborn genetic diseases ⚠
p.Arg10Trp Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Arg11Cys Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Arg208Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg27Lys Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Arg286Trp Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Arg318Cys Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Arg318His Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Arg388Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg39His Multiple submitters Inborn genetic diseases ⚠
p.Arg434Pro Multiple submitters ACSF3-related disorder ⚠
p.Arg49Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg515Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg84Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg94Trp Multiple submitters Inborn genetic diseases ⚠
p.Asp105Asn Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Asp41Val Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Asp457Asn Multiple submitters Inborn genetic diseases ⚠
p.Gln133His Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Gly120Ser Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Gly225Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly366Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly506Arg Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.His228Asp Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.His4Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys210Gln Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Met266Val Multiple submitters Inborn genetic diseases ⚠
p.Met267Val Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Met362Leu Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Pro169Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro209Ala Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Pro557Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser144Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser29Thr Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Ser548Leu Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Thr176Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr284Met Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Thr358Ile Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Thr448Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr67Met Multiple submitters Inborn genetic diseases ⚠
p.Trp276Cys Multiple submitters combined malonic and methylmalonic acidemia ⚠
p.Val241Met Multiple submitters Inborn genetic diseases ⚠
p.Val459Met Multiple submitters Inborn genetic diseases ⚠
p.Val60Gly Multiple submitters combined malonic and methylmalonic acidemia ⚠
c.1126+5G>A Single submitter combined malonic and methylmalonic acidemia
c.1613+3A>C Single submitter combined malonic and methylmalonic acidemia
c.-193-10C>T Single submitter
c.-23T>C Single submitter
c.-8T>A Single submitter combined malonic and methylmalonic acidemia
p.Ala106Ser Single submitter combined malonic and methylmalonic acidemia
p.Ala122Val Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala132Asp Single submitter ⚠
p.Ala17Thr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala22Val Single submitter ⚠
p.Ala231Thr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala253Glu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala253Thr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala253Val Single submitter Inborn genetic diseases ⚠
p.Ala333Val Single submitter Inborn genetic diseases ⚠
p.Ala363Thr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ala495Asp Single submitter Inborn genetic diseases ⚠
p.Ala495Thr Single submitter Inborn genetic diseases ⚠
p.Ala542Thr Single submitter Inborn genetic diseases ⚠
p.Ala542Val Single submitter Inborn genetic diseases ⚠
p.Ala545Val Single submitter Inborn genetic diseases ⚠
p.Ala568Glu Single submitter Inborn genetic diseases ⚠
p.Arg10Gln Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg11Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg127Gly Single submitter Inborn genetic diseases ⚠
p.Arg20Trp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg220Ser Single submitter Inborn genetic diseases ⚠
p.Arg318Leu Single submitter Inborn genetic diseases ⚠
p.Arg318Ser Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg354Gln Single submitter ⚠
p.Arg354Trp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg373Gly Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg39Cys Single submitter Inborn genetic diseases ⚠
p.Arg434Gln Single submitter Inborn genetic diseases ⚠
p.Arg571Gly Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg74Cys Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg74His Single submitter combined malonic and methylmalonic acidemia ⚠
p.Arg77Cys Single submitter Inborn genetic diseases ⚠
p.Arg97Ser Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asn252Ile Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asn252Lys Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asn252Ser Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asn288Asp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asn393Asp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asp305Glu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asp315Asn Single submitter combined malonic and methylmalonic acidemia ⚠
p.Asp41Glu Single submitter methylmalonic acidemia ⚠
p.Asp565Glu Single submitter Inborn genetic diseases ⚠
p.Asp61Glu Single submitter Inborn genetic diseases ⚠
p.Cys19Tyr Single submitter ⚠
p.Gln112His Single submitter ⚠
p.Gln112Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gln310Arg Single submitter Inborn genetic diseases ⚠
p.Gln560Ter Single submitter combined malonic and methylmalonic acidemia
p.Glu180Gln Single submitter combined malonic and methylmalonic acidemia ⚠
p.Glu181Lys Single submitter combined malonic and methylmalonic acidemia ⚠
p.Glu277Lys Single submitter Inborn genetic diseases ⚠
p.Glu323Gly Single submitter combined malonic and methylmalonic acidemia ⚠
p.Glu435Asp Single submitter ⚠
p.Glu441Gln Single submitter Inborn genetic diseases ⚠
p.Glu81Asp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Glu95Gln Single submitter Inborn genetic diseases ⚠
p.Gly119Asp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly120Cys Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly164Glu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly249Asp Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly261Ala Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly261Glu Single submitter ⚠
p.Gly28Glu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly356Val Single submitter Inborn genetic diseases ⚠
p.Gly513Arg Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly562Val Single submitter Inborn genetic diseases ⚠
p.Gly87Arg Single submitter combined malonic and methylmalonic acidemia ⚠
p.Gly90Ser Single submitter Inborn genetic diseases ⚠
p.His216Pro Single submitter Inborn genetic diseases ⚠
p.His245Gln Single submitter combined malonic and methylmalonic acidemia ⚠
p.His248Arg Single submitter combined malonic and methylmalonic acidemia ⚠
p.His33Tyr Single submitter Inborn genetic diseases ⚠
p.His492Tyr Single submitter Inborn genetic diseases ⚠
p.His526Arg Single submitter Inborn genetic diseases ⚠
p.His572Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.His574fs Single submitter combined malonic and methylmalonic acidemia
p.His574Pro Single submitter Inborn genetic diseases ⚠
p.His66Gln Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ile138Met Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ile296Val Single submitter Inborn genetic diseases ⚠
p.Ile468Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ile476Val Single submitter Inborn genetic diseases ⚠
p.Ile499Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ile499Val Single submitter Inborn genetic diseases ⚠
p.Leu213Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Leu242Arg Single submitter Inborn genetic diseases ⚠
p.Leu242Phe Single submitter Inborn genetic diseases ⚠
p.Leu254Met Single submitter Inborn genetic diseases ⚠
p.Leu31Phe Single submitter combined malonic and methylmalonic acidemia ⚠
p.Leu31Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Leu335Gln Single submitter combined malonic and methylmalonic acidemia ⚠
p.Leu351Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Leu374Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Leu382Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Leu522Val Single submitter Inborn genetic diseases ⚠
p.Leu93Arg Single submitter combined malonic and methylmalonic acidemia ⚠
p.Lys195Glu Single submitter Inborn genetic diseases ⚠
p.Lys229Arg Single submitter Inborn genetic diseases ⚠
p.Lys413= Single submitter
p.Lys413Met Single submitter Inborn genetic diseases ⚠
p.Lys483Glu Single submitter ⚠
p.Met198Ile Single submitter Inborn genetic diseases ⚠
p.Phe53Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro124Arg Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro158Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro166Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro186Ala Single submitter ⚠
p.Pro186Arg Single submitter Inborn genetic diseases ⚠
p.Pro186Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro268Ser Single submitter Inborn genetic diseases ⚠
p.Pro294Ser Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro294Thr Single submitter Inborn genetic diseases ⚠
p.Pro336Thr Single submitter Inborn genetic diseases ⚠
p.Pro367Arg Single submitter Inborn genetic diseases ⚠
p.Pro375Thr Single submitter Inborn genetic diseases ⚠
p.Pro430Leu Single submitter Inborn genetic diseases ⚠
p.Pro497Ser Single submitter Inborn genetic diseases ⚠
p.Pro508Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Pro547Ser Single submitter Inborn genetic diseases ⚠
p.Pro575His Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ser107Phe Single submitter Inborn genetic diseases ⚠
p.Ser118Thr Single submitter Inborn genetic diseases ⚠
p.Ser143Ile Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ser281Asn Single submitter Inborn genetic diseases ⚠
p.Ser282Cys Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ser431Phe Single submitter Inborn genetic diseases ⚠
p.Ser431Tyr Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ser498Arg Single submitter combined malonic and methylmalonic acidemia ⚠
p.Ser73Pro Single submitter combined malonic and methylmalonic acidemia ⚠
p.Thr171Ala Single submitter Inborn genetic diseases ⚠
p.Thr224Ile Single submitter combined malonic and methylmalonic acidemia ⚠
p.Thr263Ser Single submitter combined malonic and methylmalonic acidemia ⚠
p.Thr358Asn Single submitter ⚠
p.Thr500= Single submitter combined malonic and methylmalonic acidemia
p.Thr500Arg Single submitter Inborn genetic diseases ⚠
p.Trp452Leu Single submitter Inborn genetic diseases ⚠
p.Trp512Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Trp536Ser Single submitter combined malonic and methylmalonic acidemia ⚠
p.Tyr175His Single submitter Inborn genetic diseases ⚠
p.Tyr355Cys Single submitter Inborn genetic diseases ⚠
p.Tyr401Phe Single submitter ⚠
p.Tyr482His Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val110Met Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val137Ala Single submitter Inborn genetic diseases ⚠
p.Val145Gly Single submitter Inborn genetic diseases ⚠
p.Val146Leu Single submitter Inborn genetic diseases ⚠
p.Val212Leu Single submitter ⚠
p.Val222Ala Single submitter Inborn genetic diseases ⚠
p.Val237Met Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val247Ile Single submitter Inborn genetic diseases ⚠
p.Val329Ile Single submitter Inborn genetic diseases ⚠
p.Val339Ala Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val339Leu Single submitter Inborn genetic diseases ⚠
p.Val339Met Single submitter Inborn genetic diseases ⚠
p.Val37Glu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val427Ala Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val432Met Single submitter Inborn genetic diseases ⚠
p.Val459Ala Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val489Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val489Met Single submitter Inborn genetic diseases ⚠
p.Val519Gly Single submitter ⚠
p.Val519Met Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val540Leu Single submitter combined malonic and methylmalonic acidemia ⚠
p.Val553Ala Single submitter Inborn genetic diseases ⚠
p.Val6Leu Single submitter combined malonic and methylmalonic acidemia ⚠
c.1367-464C>T No assertion criteria combined malonic and methylmalonic acidemia
c.1613+11_1613+12insGGGG No assertion criteria methylmalonic acidemia
c.1613+7_1613+8del No assertion criteria methylmalonic acidemia
c.1613+7C>G No assertion criteria methylmalonic acidemia
c.1613+8T>A No assertion criteria methylmalonic acidemia
c.978-5C>A No assertion criteria ACSF3-related disorder
c.-10T>G No assertion criteria methylmalonic acidemia
c.*1C>T No assertion criteria combined malonic and methylmalonic acidemia
p.Ala106Val No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Ala15Pro No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Ala334= No assertion criteria combined malonic and methylmalonic acidemia
p.Ala446= No assertion criteria combined malonic and methylmalonic acidemia
p.Ala495= No assertion criteria combined malonic and methylmalonic acidemia
p.Arg286Gln No assertion criteria methylmalonic acidemia ⚠
p.Arg56Lys No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Arg77Leu No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Asp41Tyr No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Asp565Asn No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Asp92Asn No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Gln150Glu No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Glu524= No assertion criteria combined malonic and methylmalonic acidemia
p.Glu524Gly No assertion criteria methylmalonic acidemia ⚠
p.Gly348Asp No assertion criteria methylmalonic acidemia ⚠
p.Gly366_Pro367del No assertion criteria combined malonic and methylmalonic acidemia
p.Gly407Arg No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Gly64Ser No assertion criteria methylmalonic acidemia ⚠
p.His216Gln No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.His404Gln No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Ile174Met No assertion criteria methylmalonic acidemia ⚠
p.Leu134= No assertion criteria combined malonic and methylmalonic acidemia
p.Leu213= No assertion criteria combined malonic and methylmalonic acidemia
p.Leu280Phe No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Leu317Phe No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Leu352= No assertion criteria methylmalonic acidemia
p.Leu533Ile No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Leu93His No assertion criteria methylmalonic acidemia ⚠
p.Lys162Arg No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Lys234Ile No assertion criteria methylmalonic acidemia ⚠
p.Lys299Met No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Met266Ile No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Pro130Ser No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Pro45Leu No assertion criteria methylmalonic acidemia ⚠
p.Ser365Phe No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Ser43Arg No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Thr205Ile No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Thr263Pro No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Thr298Ala No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Thr458= No assertion criteria combined malonic and methylmalonic acidemia
p.Thr479Ser No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Thr517Ser No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Val146Ile No assertion criteria methylmalonic acidemia ⚠
p.Val222= No assertion criteria combined malonic and methylmalonic acidemia
p.Val227Ile No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Val241Leu No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Val247Phe No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Val275= No assertion criteria methylmalonic acidemia
p.Val293Met No assertion criteria methylmalonic acidemia ⚠
p.Val387Ala No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Val46Met No assertion criteria combined malonic and methylmalonic acidemia ⚠
p.Val516= No assertion criteria combined malonic and methylmalonic acidemia