BCKDHB — 796 ClinVar variants

All ClinVar germline BCKDHB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 184 flagged for review →

68 Pathogenic · 58 Pathogenic/Likely pathogenic · 92 Likely pathogenic · 28 Conflicting · 57 Benign · 9 Benign/Likely benign · 284 Likely benign · 200 Uncertain significance

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

⚑ Evidence disagreements 184

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

BCKDHB p.Gly336Ser Pathogenic/Likely pathogenic Multiple submitters
maple syrup urine disease type 1B
BCKDHB p.Tyr256Cys Likely pathogenic Multiple submitters
maple syrup urine disease type 1A
BCKDHB p.Gly66Arg Pathogenic Single submitter
maple syrup urine disease
BCKDHB p.Leu333Trp Likely pathogenic Single submitter
BCKDHB p.Lys222Arg Likely pathogenic Single submitter
maple syrup urine disease type 1B

Predictors agree, ClinVar conflicts 20

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

BCKDHB p.Ala137Glu Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Ala29Val Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Arg168Cys Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Arg170Pro Conflicting Single submitter
Inborn genetic diseases
BCKDHB p.Cys235Tyr Conflicting Single submitter
BCKDHB p.His196Leu Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Ile160Ser Conflicting Single submitter
maple syrup urine disease type 1B
BCKDHB p.Ile315Val Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Ile341Asn Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Lys166Asn Conflicting Single submitter
maple syrup urine disease type 1B
BCKDHB p.Lys211Asn Conflicting Single submitter
maple syrup urine disease type 1A
BCKDHB p.Met71Arg Conflicting Single submitter
BCKDHB p.Pro200Ala Conflicting Single submitter
maple syrup urine disease type 1B
BCKDHB p.Pro332Leu Conflicting Single submitter
BCKDHB-related disorder
BCKDHB p.Thr273Pro Conflicting Single submitter
maple syrup urine disease type 1B
BCKDHB p.Trp277Cys Conflicting Single submitter
maple syrup urine disease type 1B
BCKDHB p.Tyr169Cys Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Tyr363Asn Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Val98Gly Conflicting Single submitter
maple syrup urine disease
BCKDHB p.Thr122Asn Conflicting No assertion criteria
maple syrup urine disease type 1A

Predictors lean, ClinVar uncertain 123

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

BCKDHB p.Ala150Val Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Ala39Thr Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Ala40Val Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Arg285Gln Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Asn83Lys Uncertain significance Multiple submitters
BCKDHB p.Asp117Asn Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Asp82Gly Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Cys177Arg Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Glu372Val Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Gly34Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Ile229Thr Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Ile242Met Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Ile390Val Uncertain significance Multiple submitters
maple syrup urine disease type 1A
BCKDHB p.Leu243Phe Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Leu353Val Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Lys388Glu Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Pro27Ser Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Thr122Ile Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Thr279Ala Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Thr344Ile Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Thr90Ile Uncertain significance Multiple submitters
BCKDHB p.Tyr383Asp Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Tyr392Cys Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Val4Ile Uncertain significance Multiple submitters
maple syrup urine disease
BCKDHB p.Ala165Pro Uncertain significance Single submitter
BCKDHB p.Ala16Glu Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala19Val Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala202Thr Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala202Val Uncertain significance Single submitter
BCKDHB p.Ala276Gly Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala288Pro Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala2Val Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala355Pro Uncertain significance Single submitter
BCKDHB p.Ala7Thr Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala80Thr Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala8Gly Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Arg111Gln Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Arg13Gly Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Arg168Pro Uncertain significance Single submitter
BCKDHB p.Arg324Gln Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Arg33Gln Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Arg359Ser Uncertain significance Single submitter
BCKDHB p.Asn391Lys Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Asp271Ala Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Asp378Asn Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Asp44Gly Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Cys299Ser Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gln148His Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gln198Leu Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gln262His Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Gln57His Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gln67Arg Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Glu239Lys Uncertain significance Single submitter
BCKDHB p.Glu330Gly Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Glu348Lys Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gly101Ser Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gly109Arg Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Gly133Glu Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gly192Arg Uncertain significance Single submitter
BCKDHB p.Gly192Glu Uncertain significance Single submitter
maple syrup urine disease type 1A
BCKDHB p.Gly223Arg Uncertain significance Single submitter
maple syrup urine disease type 1A
BCKDHB p.Gly323Ala Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gly9Ala Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.His206Gln Uncertain significance Single submitter
BCKDHB p.His206Pro Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.His22Gln Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.His22Tyr Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ile182Leu Uncertain significance Single submitter
maple syrup urine disease type 1B
BCKDHB p.Ile236Thr Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ile253Leu Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ile266Val Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ile307Leu Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ile357Met Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ile370Val Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ile390Asn Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Leu225Pro Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Leu225Val Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Leu26Pro Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Leu274Pro Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Leu274Val Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Leu31Pro Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Lys113Arg Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Lys166Met Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Lys292Glu Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Lys70Thr Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Lys87Arg Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Met389Leu Uncertain significance Single submitter
BCKDHB p.Phe238Ser Uncertain significance Single submitter
maple syrup urine disease type 1B
BCKDHB p.Phe371Ser Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Pro123Ala Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Pro123Leu Uncertain significance Single submitter
BCKDHB p.Pro123Ser Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Pro185Ser Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Pro200Thr Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Pro366Leu Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Pro377Leu Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Pro58Arg Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Pro60Leu Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ser171Pro Uncertain significance Single submitter
BCKDHB p.Ser261Pro Uncertain significance Single submitter
BCKDHB p.Ser289Phe Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ser318Phe Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ser328Ile Uncertain significance Single submitter
BCKDHB p.Thr107Ser Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Thr273Ser Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Thr90Ala Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Tyr167Cys Uncertain significance Single submitter
BCKDHB p.Tyr167His Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Tyr65Asp Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Val265Ala Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Val4Leu Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ala52Val Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Ala5Pro Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Arg13Ser Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Arg324Pro Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Asp311His Uncertain significance No assertion criteria
maple syrup urine disease type 1A
BCKDHB p.Asp313Asn Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Gly115Arg Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Leu14Arg Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Leu295Ile Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Met290Val Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Ser179Arg Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Ser342Thr Uncertain significance No assertion criteria
maple syrup urine disease type 1B

Predictors split 36

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

BCKDHB p.Ala145Val Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Gln346Arg Pathogenic/Likely pathogenic Multiple submitters
maple syrup urine disease type 1B
BCKDHB p.Gly101Asp Pathogenic/Likely pathogenic Multiple submitters
maple syrup urine disease
BCKDHB p.Gly278Ser Pathogenic/Likely pathogenic Multiple submitters
BCKDHB-related disorder
BCKDHB p.His282Arg Uncertain significance Multiple submitters
BCKDHB p.Ile302Leu Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Leu194Phe Pathogenic/Likely pathogenic Multiple submitters
maple syrup urine disease
BCKDHB p.Ser339Leu Pathogenic/Likely pathogenic Multiple submitters
maple syrup urine disease type 1A
BCKDHB p.Val130Ala Uncertain significance Multiple submitters
Inborn genetic diseases
BCKDHB p.Ala143Thr Uncertain significance Single submitter
maple syrup urine disease type 1B
BCKDHB p.Ala263Gly Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Ala80Gly Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ala91Val Likely pathogenic Single submitter
maple syrup urine disease type 1B
BCKDHB p.Arg111Gly Uncertain significance Single submitter
BCKDHB p.Asp378Gly Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Asp384His Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Asp88Val Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Cys382Arg Conflicting Single submitter
maple syrup urine disease type 1B
BCKDHB p.Cys382Tyr Likely pathogenic Single submitter
maple syrup urine disease
BCKDHB p.Gly109Ser Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Gly190Ala Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Gly296Ala Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.His282Pro Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.His53Pro Uncertain significance Single submitter
BCKDHB p.Ile258Phe Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Ile357Thr Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Pro218Ser Uncertain significance Single submitter
BCKDHB p.Pro89Leu Uncertain significance Single submitter
Inborn genetic diseases
BCKDHB p.Thr68Ile Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Trp186Arg Uncertain significance Single submitter
maple syrup urine disease type 1A
BCKDHB p.Tyr152Asp Uncertain significance Single submitter
maple syrup urine disease
BCKDHB p.Arg13Trp Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Asp173Tyr Uncertain significance No assertion criteria
maple syrup urine disease type 1A
BCKDHB p.Leu180Val Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Phe337Leu Uncertain significance No assertion criteria
maple syrup urine disease type 1B
BCKDHB p.Ser342Ile Uncertain significance No assertion criteria
maple syrup urine disease type 1B

All BCKDHB variants

Pathogenic 68

c.275-2A>G Multiple submitters maple syrup urine disease
c.477+1G>A Multiple submitters maple syrup urine disease
c.840+2T>G Multiple submitters maple syrup urine disease
p.Ala221fs Multiple submitters maple syrup urine disease
p.Ala91fs Multiple submitters maple syrup urine disease
p.Arg111Ter Multiple submitters maple syrup urine disease type 1B
p.Arg285Ter Multiple submitters maple syrup urine disease type 1B
p.Asp117fs Multiple submitters maple syrup urine disease type 1B
p.Asp271fs Multiple submitters maple syrup urine disease
p.Asp303fs Multiple submitters maple syrup urine disease
p.Cys188Ter Multiple submitters maple syrup urine disease type 1A
p.Gln267Ter Multiple submitters maple syrup urine disease type 1B
p.Glu163Ter Multiple submitters maple syrup urine disease type 1B
p.Glu250Ter Multiple submitters maple syrup urine disease
p.Glu372Ter Multiple submitters maple syrup urine disease
p.Ile214Lys Multiple submitters maple syrup urine disease type 1B
p.Leu26fs Multiple submitters maple syrup urine disease
p.Met1Ile Multiple submitters maple syrup urine disease
p.Pro356fs Multiple submitters maple syrup urine disease
p.Ser184fs Multiple submitters maple syrup urine disease
p.Ser199_Pro200insTer Multiple submitters BCKDHB-related disorder
p.Tyr383Ter Multiple submitters maple syrup urine disease
p.Val51fs Multiple submitters maple syrup urine disease type 1A
c.187_196+19del Single submitter
c.197-1G>C Single submitter maple syrup urine disease
c.197-2A>C Single submitter maple syrup urine disease
c.197-2A>G Single submitter maple syrup urine disease
c.343+1G>C Single submitter maple syrup urine disease
c.344-1G>A Single submitter
c.840+1G>T Single submitter maple syrup urine disease type 1A
c.-70_-15+207del Single submitter maple syrup urine disease
p.Ala137fs Single submitter maple syrup urine disease
p.Arg118fs Single submitter maple syrup urine disease
p.Arg13fs Single submitter maple syrup urine disease
p.Arg170_Ser171del Single submitter maple syrup urine disease
p.Arg24delinsLeuProGlyArgGlyTer Single submitter maple syrup urine disease
p.Arg63fs Single submitter
p.Asn176Ter Single submitter maple syrup urine disease
p.Asp311Val Single submitter maple syrup urine disease
p.Glu163Val Single submitter
p.Glu249Ter Single submitter maple syrup urine disease
p.Glu330fs Single submitter maple syrup urine disease
p.Glu348Ter Single submitter maple syrup urine disease
p.Glu61Ter Single submitter maple syrup urine disease
p.Gly223Ter Single submitter maple syrup urine disease
p.Gly66Arg Single submitter maple syrup urine disease ⚠
p.His282fs Single submitter maple syrup urine disease
p.Ile134Asn Single submitter maple syrup urine disease
p.Leu295fs Single submitter maple syrup urine disease
p.Leu304fs Single submitter maple syrup urine disease
p.Lys232Ter Single submitter maple syrup urine disease type 1B
p.Lys241Ter Single submitter maple syrup urine disease
p.Lys70_Met71insTer Single submitter maple syrup urine disease
p.Phe132fs Single submitter maple syrup urine disease
p.Phe175fs Single submitter maple syrup urine disease
p.Phe337fs Single submitter maple syrup urine disease
p.Phe56fs Single submitter
p.Phe94fs Single submitter maple syrup urine disease
p.Pro185Leu Single submitter maple syrup urine disease
p.Pro259fs Single submitter
p.Ser79fs Single submitter maple syrup urine disease
p.Trp10fs Single submitter maple syrup urine disease
p.Trp23Ter Single submitter maple syrup urine disease
p.Tyr244fs Single submitter maple syrup urine disease
p.Tyr244Ter Single submitter maple syrup urine disease
p.Tyr65Ter Single submitter maple syrup urine disease
p.Val108fs Single submitter maple syrup urine disease
p.Val119Gly No assertion criteria maple syrup urine disease type 1B

Pathogenic/Likely pathogenic 58

c.1039-2A>G Multiple submitters maple syrup urine disease type 1B
c.274+1G>T Multiple submitters maple syrup urine disease type 1A
c.343+2T>G Multiple submitters maple syrup urine disease type 1B
c.633+1G>A Multiple submitters maple syrup urine disease type 1A
c.633+1G>T Multiple submitters maple syrup urine disease type 1B
c.952-1G>A Multiple submitters BCKDHB-related disorder
p.Ala137Val Multiple submitters maple syrup urine disease type 1B
p.Ala32fs Multiple submitters maple syrup urine disease
p.Ala8fs Multiple submitters maple syrup urine disease type 1B
p.Arg168His Multiple submitters BCKDHB-related disorder
p.Arg170Cys Multiple submitters Inborn genetic diseases
p.Arg170His Multiple submitters BCKDHB-related disorder
p.Arg183Gln Multiple submitters maple syrup urine disease type 1A
p.Arg183Pro Multiple submitters BCKDHB-related disorder
p.Arg183Trp Multiple submitters maple syrup urine disease type 1B
p.Arg324Ter Multiple submitters BCKDHB-related disorder
p.Arg387Ter Multiple submitters maple syrup urine disease type 1B
p.Asn121Ter Multiple submitters maple syrup urine disease type 1B
p.Asn176Tyr Multiple submitters maple syrup urine disease type 1B
p.Cys349Tyr Multiple submitters maple syrup urine disease type 1A
p.Gln198fs Multiple submitters maple syrup urine disease type 1B
p.Gln220Ter Multiple submitters maple syrup urine disease type 1B
p.Gln346Arg Multiple submitters maple syrup urine disease type 1B ⚠
p.Gln57Ter Multiple submitters maple syrup urine disease
p.Gln67Ter Multiple submitters maple syrup urine disease type 1B
p.Glu239Ter Multiple submitters maple syrup urine disease type 1B
p.Glu330Lys Multiple submitters maple syrup urine disease type 1B
p.Gly101Asp Multiple submitters maple syrup urine disease ⚠
p.Gly131Val Multiple submitters maple syrup urine disease
p.Gly135Arg Multiple submitters maple syrup urine disease type 1B
p.Gly178Ter Multiple submitters maple syrup urine disease type 1A
p.Gly278Ser Multiple submitters BCKDHB-related disorder ⚠
p.Gly336Ser Multiple submitters maple syrup urine disease type 1B ⚠
p.Gly34fs Multiple submitters maple syrup urine disease
p.Gly66Trp Multiple submitters maple syrup urine disease type 1B
p.His22fs Multiple submitters maple syrup urine disease
p.Ile253fs Multiple submitters maple syrup urine disease type 1B
p.Leu110Ter Multiple submitters maple syrup urine disease
p.Leu12fs Multiple submitters maple syrup urine disease type 1B
p.Leu194Phe Multiple submitters maple syrup urine disease ⚠
p.Leu36fs Multiple submitters maple syrup urine disease
p.Lys166Ter Multiple submitters maple syrup urine disease
p.Met1Leu Multiple submitters maple syrup urine disease type 1B
p.Met1Thr Multiple submitters maple syrup urine disease
p.Met1Val Multiple submitters maple syrup urine disease type 1A
p.Phe204fs Multiple submitters maple syrup urine disease
p.Phe35fs Multiple submitters maple syrup urine disease type 1A
p.Pro123fs Multiple submitters maple syrup urine disease
p.Pro27fs Multiple submitters maple syrup urine disease type 1B
p.Pro356Leu Multiple submitters maple syrup urine disease type 1A
p.Pro366fs Multiple submitters maple syrup urine disease
p.Ser339Leu Multiple submitters maple syrup urine disease type 1A ⚠
p.Thr273Ile Multiple submitters maple syrup urine disease
p.Thr322Ala Multiple submitters maple syrup urine disease type 1B
p.Tyr114Ter Multiple submitters maple syrup urine disease type 1A
p.Tyr195fs Multiple submitters maple syrup urine disease type 1B
p.Tyr195Ter Multiple submitters maple syrup urine disease type 1B
p.Val251Ala Multiple submitters maple syrup urine disease type 1B

Likely pathogenic 92

c.1038+2T>C Multiple submitters maple syrup urine disease
c.196+1G>A Multiple submitters maple syrup urine disease type 1B
c.274+2T>C Multiple submitters maple syrup urine disease type 1B
c.634-2A>G Multiple submitters maple syrup urine disease
c.841-1G>C Multiple submitters maple syrup urine disease
c.952-2A>G Multiple submitters maple syrup urine disease type 1A
p.Ala205fs Multiple submitters maple syrup urine disease
p.Ala331Thr Multiple submitters maple syrup urine disease
p.Ala6fs Multiple submitters maple syrup urine disease type 1B
p.Ala7fs Multiple submitters maple syrup urine disease type 1A
p.Arg170Gly Multiple submitters maple syrup urine disease type 1A
p.Arg170Ser Multiple submitters maple syrup urine disease type 1B
p.Arg183Gly Multiple submitters maple syrup urine disease type 1B
p.His206Tyr Multiple submitters maple syrup urine disease type 1B
p.Tyr195Cys Multiple submitters maple syrup urine disease type 1B
p.Tyr256Cys Multiple submitters maple syrup urine disease type 1A ⚠
c.1038+2T>G Single submitter maple syrup urine disease type 1B
c.1039-7_1039-4del Single submitter maple syrup urine disease
c.196+1G>C Single submitter maple syrup urine disease
c.196+1G>T Single submitter maple syrup urine disease type 1B
c.274+1G>A Single submitter maple syrup urine disease type 1B
c.275-1G>A Single submitter maple syrup urine disease
c.343+4del Single submitter maple syrup urine disease type 1B
c.633+2T>C Single submitter maple syrup urine disease
c.742+1G>A Single submitter maple syrup urine disease
c.743_840+22delinsGGAAGAAGTCCCTATAGAACGTAG Single submitter maple syrup urine disease
c.840+1G>A Single submitter maple syrup urine disease
c.841-1G>T Single submitter maple syrup urine disease
c.841-2A>G Single submitter maple syrup urine disease
c.951+1G>A Single submitter maple syrup urine disease
p.Ala165fs Single submitter maple syrup urine disease type 1B
p.Ala19fs Single submitter maple syrup urine disease
p.Ala248fs Single submitter maple syrup urine disease
p.Ala91Val Single submitter maple syrup urine disease type 1B ⚠
p.Arg118Ter Single submitter maple syrup urine disease
p.Arg216Gly Single submitter maple syrup urine disease
p.Asn176Lys Single submitter maple syrup urine disease
p.Asp173fs Single submitter maple syrup urine disease type 1B
p.Asp231fs Single submitter maple syrup urine disease
p.Asp97Val Single submitter maple syrup urine disease type 1B
p.Cys382Tyr Single submitter maple syrup urine disease ⚠
p.Gln159Lys Single submitter
p.Gln262fs Single submitter maple syrup urine disease type 1A
p.Gln280Ter Single submitter maple syrup urine disease type 1B
p.Gln47fs Single submitter maple syrup urine disease
p.Gln69Ter Single submitter maple syrup urine disease type 1B
p.Glu264Ter Single submitter maple syrup urine disease
p.Gly102Ala Single submitter
p.Gly102Ter Single submitter maple syrup urine disease type 1B
p.Gly131Arg Single submitter maple syrup urine disease type 1B
p.Gly172Trp Single submitter maple syrup urine disease type 1B
p.Gly187Asp Single submitter
p.Gly187fs Single submitter maple syrup urine disease
p.Gly18fs Single submitter maple syrup urine disease type 1A
p.Gly209Ter Single submitter maple syrup urine disease
p.Gly278Asp Single submitter maple syrup urine disease type 1B
p.Gly9fs Single submitter maple syrup urine disease type 1B
p.His206Arg Single submitter maple syrup urine disease type 1B
p.Ile160Phe Single submitter maple syrup urine disease
p.Leu194fs Single submitter maple syrup urine disease type 1A
p.Leu325_Leu326insTer Single submitter maple syrup urine disease type 1A
p.Leu325Arg Single submitter maple syrup urine disease type 1A
p.Leu333Trp Single submitter ⚠
p.Lys222Arg Single submitter maple syrup urine disease type 1B ⚠
p.Lys317Ter Single submitter maple syrup urine disease
p.Met71fs Single submitter maple syrup urine disease
p.Phe374fs Single submitter maple syrup urine disease type 1B
p.Pro200Leu Single submitter maple syrup urine disease type 1B
p.Pro208fs Single submitter maple syrup urine disease type 1B
p.Ser184Phe Single submitter maple syrup urine disease type 1B
p.Ser199Arg Single submitter maple syrup urine disease type 1B
p.Ser342fs Single submitter maple syrup urine disease
p.Ser84fs Single submitter maple syrup urine disease
p.Thr107fs Single submitter maple syrup urine disease
p.Thr139fs Single submitter maple syrup urine disease
p.Thr322Ile Single submitter maple syrup urine disease type 1B
p.Thr55fs Single submitter maple syrup urine disease
p.Trp277Ter Single submitter maple syrup urine disease
p.Trp380Ter Single submitter maple syrup urine disease type 1B
p.Tyr167Ter Single submitter maple syrup urine disease
p.Tyr244His Single submitter maple syrup urine disease type 1B
p.Tyr244Ser Single submitter
p.Val213Phe Single submitter maple syrup urine disease type 1A
p.Val265fs Single submitter maple syrup urine disease type 1A
p.Val301Gly Single submitter
c.633+1G>C No assertion criteria maple syrup urine disease type 1A
p.Arg285fs No assertion criteria maple syrup urine disease type 1A
p.Arg33fs No assertion criteria maple syrup urine disease type 1A
p.Asp364Asn No assertion criteria maple syrup urine disease
p.Met1fs No assertion criteria maple syrup urine disease
p.Thr122fs No assertion criteria maple syrup urine disease type 1A
p.Thr322fs No assertion criteria maple syrup urine disease type 1A

Conflicting classifications of pathogenicity 28

c.633+16T>C Single submitter maple syrup urine disease
c.742+16A>G Single submitter maple syrup urine disease
p.Ala137= Single submitter maple syrup urine disease
p.Ala137Glu Single submitter maple syrup urine disease ⚠
p.Ala17= Single submitter maple syrup urine disease
p.Ala248= Single submitter Inborn genetic diseases
p.Ala29Val Single submitter maple syrup urine disease ⚠
p.Arg168Cys Single submitter maple syrup urine disease ⚠
p.Arg170Pro Single submitter Inborn genetic diseases ⚠
p.Cys235Tyr Single submitter ⚠
p.Cys382Arg Single submitter maple syrup urine disease type 1B ⚠
p.Gly296fs Single submitter maple syrup urine disease
p.His196Leu Single submitter maple syrup urine disease ⚠
p.Ile160Ser Single submitter maple syrup urine disease type 1B ⚠
p.Ile315Val Single submitter maple syrup urine disease ⚠
p.Ile341Asn Single submitter maple syrup urine disease ⚠
p.Lys166Asn Single submitter maple syrup urine disease type 1B ⚠
p.Lys211Asn Single submitter maple syrup urine disease type 1A ⚠
p.Met71Arg Single submitter ⚠
p.Pro200Ala Single submitter maple syrup urine disease type 1B ⚠
p.Pro332Leu Single submitter BCKDHB-related disorder ⚠
p.Thr273Pro Single submitter maple syrup urine disease type 1B ⚠
p.Trp277Cys Single submitter maple syrup urine disease type 1B ⚠
p.Tyr169Cys Single submitter maple syrup urine disease ⚠
p.Tyr244= Single submitter maple syrup urine disease
p.Tyr363Asn Single submitter maple syrup urine disease ⚠
p.Val98Gly Single submitter maple syrup urine disease ⚠
p.Thr122Asn No assertion criteria maple syrup urine disease type 1A ⚠

Benign 57

c.197-11G>T Multiple submitters maple syrup urine disease
c.197-25A>G Multiple submitters maple syrup urine disease
c.743-17del Multiple submitters
c.841-73C>T Multiple submitters maple syrup urine disease
c.952-151G>A Multiple submitters maple syrup urine disease
c.*121G>A Multiple submitters maple syrup urine disease
c.*2271G>A Multiple submitters maple syrup urine disease
c.*2282C>T Multiple submitters maple syrup urine disease
c.*236G>A Multiple submitters maple syrup urine disease
c.*293T>C Multiple submitters maple syrup urine disease
c.*304G>A Multiple submitters maple syrup urine disease
c.1038+274T>A Single submitter
c.1039-164G>T Single submitter
c.1039-264G>A Single submitter
c.1039-274G>A Single submitter
c.196+142T>C Single submitter
c.197-12dup Single submitter maple syrup urine disease type 1B
c.197-206A>G Single submitter
c.197-30A>C Single submitter
c.275-288TG[15] Single submitter
c.275-288TG[16] Single submitter
c.275-288TG[17] Single submitter
c.275-288TG[19] Single submitter
c.275-4del Single submitter maple syrup urine disease
c.343+101G>A Single submitter
c.343+196A>G Single submitter
c.344-4dup Single submitter maple syrup urine disease
c.477+70C>T Single submitter
c.478-63C>A Single submitter
c.633+57T>C Single submitter
c.634-14del Single submitter maple syrup urine disease
c.634-5del Single submitter maple syrup urine disease
c.742+182C>G Single submitter
c.743-80G>A Single submitter
c.841-234G>A Single submitter
c.841-306C>T Single submitter
c.951+287A>G Single submitter
c.*1142C>G Single submitter maple syrup urine disease
c.*1158T>G Single submitter maple syrup urine disease
c.*1241A>G Single submitter maple syrup urine disease
c.*1444T>C Single submitter maple syrup urine disease
c.*1778A>G Single submitter maple syrup urine disease
c.*1810T>C Single submitter maple syrup urine disease
c.*1875G>A Single submitter maple syrup urine disease
c.*1892T>C Single submitter maple syrup urine disease
c.*198GTT[4] Single submitter
c.*345C>T Single submitter maple syrup urine disease
c.*395G>T Single submitter maple syrup urine disease
c.*440A>T Single submitter maple syrup urine disease
c.*627T>C Single submitter maple syrup urine disease
c.*726A>G Single submitter maple syrup urine disease
c.*731C>T Single submitter maple syrup urine disease
c.*763G>A Single submitter maple syrup urine disease
c.*789C>T Single submitter maple syrup urine disease
c.*805T>C Single submitter maple syrup urine disease
c.*832C>T Single submitter maple syrup urine disease
c.*994G>A Single submitter maple syrup urine disease

Benign/Likely benign 9

c.197-11del Multiple submitters maple syrup urine disease
c.344-24C>T Multiple submitters maple syrup urine disease
c.344-88C>T Multiple submitters maple syrup urine disease
c.477+14C>T Multiple submitters maple syrup urine disease
c.742+7A>T Multiple submitters maple syrup urine disease
c.951+48C>T Multiple submitters maple syrup urine disease
p.His329= Multiple submitters maple syrup urine disease
p.Phe149= Multiple submitters maple syrup urine disease
p.Thr41Ile Multiple submitters maple syrup urine disease

Likely benign 284

c.196+8C>G Multiple submitters maple syrup urine disease
c.478-15C>T Multiple submitters maple syrup urine disease
p.Ala338= Multiple submitters maple syrup urine disease
p.Ala6Val Multiple submitters maple syrup urine disease
p.Gly131= Multiple submitters maple syrup urine disease
p.Gly9Ser Multiple submitters maple syrup urine disease
p.Leu224= Multiple submitters maple syrup urine disease
p.Phe56= Multiple submitters maple syrup urine disease
p.Pro356= Multiple submitters maple syrup urine disease
c.1038+100T>C Single submitter
c.1038+12T>G Single submitter maple syrup urine disease
c.1038+20T>C Single submitter maple syrup urine disease
c.1038+20T>G Single submitter maple syrup urine disease
c.1038+27A>C Single submitter
c.1038+8A>T Single submitter maple syrup urine disease
c.1039-10C>T Single submitter maple syrup urine disease
c.1039-13A>C Single submitter maple syrup urine disease
c.1039-15T>C Single submitter maple syrup urine disease
c.1039-17C>A Single submitter maple syrup urine disease
c.1039-5T>C Single submitter maple syrup urine disease
c.196+10G>A Single submitter maple syrup urine disease
c.196+10G>C Single submitter maple syrup urine disease
c.196+11G>A Single submitter maple syrup urine disease
c.196+12G>A Single submitter maple syrup urine disease
c.196+13A>G Single submitter maple syrup urine disease
c.196+153C>A Single submitter
c.196+18C>G Single submitter maple syrup urine disease
c.196+20A>T Single submitter maple syrup urine disease
c.196+7C>T Single submitter maple syrup urine disease
c.197-10A>T Single submitter
c.197-11G>A Single submitter maple syrup urine disease
c.197-15_197-14insA Single submitter maple syrup urine disease
c.197-16T>C Single submitter maple syrup urine disease
c.197-18T>G Single submitter maple syrup urine disease
c.197-46del Single submitter
c.197-5C>T Single submitter maple syrup urine disease
c.274+10A>T Single submitter maple syrup urine disease
c.274+13T>C Single submitter maple syrup urine disease
c.274+7C>T Single submitter maple syrup urine disease
c.274+8T>C Single submitter maple syrup urine disease
c.274+8T>G Single submitter maple syrup urine disease
c.275-10T>C Single submitter maple syrup urine disease
c.275-12A>C Single submitter maple syrup urine disease
c.275-16A>C Single submitter maple syrup urine disease
c.275-17T>C Single submitter maple syrup urine disease
c.275-20A>C Single submitter maple syrup urine disease
c.275-20A>G Single submitter maple syrup urine disease
c.275-5T>C Single submitter maple syrup urine disease
c.275-8T>G Single submitter maple syrup urine disease
c.275-9G>A Single submitter maple syrup urine disease
c.343+16T>C Single submitter maple syrup urine disease
c.343+17A>G Single submitter maple syrup urine disease
c.344-102A>G Single submitter
c.344-19T>C Single submitter maple syrup urine disease
c.344-4T>G Single submitter maple syrup urine disease
c.344-7T>C Single submitter maple syrup urine disease
c.344-8A>G Single submitter maple syrup urine disease
c.344-9T>C Single submitter maple syrup urine disease
c.477+10T>A Single submitter maple syrup urine disease
c.477+10T>C Single submitter maple syrup urine disease
c.477+13A>G Single submitter maple syrup urine disease
c.477+14C>A Single submitter maple syrup urine disease
c.477+15_477+16insAA Single submitter maple syrup urine disease
c.477+19C>G Single submitter maple syrup urine disease
c.477+20T>G Single submitter maple syrup urine disease
c.477+7G>A Single submitter maple syrup urine disease
c.478-11C>G Single submitter maple syrup urine disease
c.478-13_478-10del Single submitter maple syrup urine disease
c.478-15C>G Single submitter maple syrup urine disease
c.478-16T>G Single submitter maple syrup urine disease
c.478-17T>C Single submitter maple syrup urine disease
c.478-19C>G Single submitter maple syrup urine disease
c.478-19C>T Single submitter maple syrup urine disease
c.478-4T>G Single submitter maple syrup urine disease
c.478-6C>T Single submitter maple syrup urine disease
c.478-7C>T Single submitter maple syrup urine disease
c.478-9G>A Single submitter maple syrup urine disease
c.633+14T>C Single submitter maple syrup urine disease
c.633+15G>A Single submitter maple syrup urine disease
c.634-10G>A Single submitter maple syrup urine disease
c.634-12C>A Single submitter maple syrup urine disease
c.634-13T>C Single submitter maple syrup urine disease
c.634-16A>C Single submitter maple syrup urine disease
c.634-20A>T Single submitter maple syrup urine disease
c.634-32T>C Single submitter
c.634-4G>C Single submitter maple syrup urine disease
c.634-6T>C Single submitter maple syrup urine disease
c.742+12C>A Single submitter maple syrup urine disease
c.742+17T>G Single submitter maple syrup urine disease
c.742+18T>G Single submitter maple syrup urine disease
c.742+194T>C Single submitter
c.742+239A>G Single submitter
c.742+8T>C Single submitter maple syrup urine disease
c.742+9T>G Single submitter maple syrup urine disease
c.743-12T>C Single submitter maple syrup urine disease
c.743-14T>C Single submitter maple syrup urine disease
c.743-15C>G Single submitter maple syrup urine disease
c.743-15C>T Single submitter maple syrup urine disease
c.743-15del Single submitter maple syrup urine disease
c.743-17T>A Single submitter maple syrup urine disease
c.743-17T>C Single submitter maple syrup urine disease
c.743-18T>C Single submitter maple syrup urine disease
c.743-19T>A Single submitter maple syrup urine disease
c.743-19T>C Single submitter maple syrup urine disease
c.743-20T>C Single submitter maple syrup urine disease
c.743-6A>G Single submitter maple syrup urine disease
c.743-8G>A Single submitter maple syrup urine disease
c.743-8G>C Single submitter maple syrup urine disease
c.743-8G>T Single submitter
c.743-9T>G Single submitter maple syrup urine disease
c.840+10A>G Single submitter maple syrup urine disease
c.840+12T>G Single submitter maple syrup urine disease
c.840+156T>G Single submitter
c.840+15dup Single submitter maple syrup urine disease
c.840+15T>C Single submitter maple syrup urine disease
c.840+18C>T Single submitter maple syrup urine disease
c.840+20A>G Single submitter maple syrup urine disease
c.840+33A>G Single submitter
c.840+8G>A Single submitter maple syrup urine disease
c.841-9T>G Single submitter maple syrup urine disease
c.951+10T>C Single submitter maple syrup urine disease
c.951+11A>C Single submitter maple syrup urine disease
c.951+62A>T Single submitter
c.951+7A>C Single submitter maple syrup urine disease
c.951+8T>A Single submitter maple syrup urine disease
c.951+9A>C Single submitter maple syrup urine disease
c.951+9A>G Single submitter maple syrup urine disease
c.952-13T>C Single submitter maple syrup urine disease
c.952-14C>G Single submitter maple syrup urine disease
c.952-14C>T Single submitter maple syrup urine disease
c.952-5T>G Single submitter maple syrup urine disease
c.-75C>T Single submitter
c.*1798C>T Single submitter maple syrup urine disease
c.*2072C>T Single submitter maple syrup urine disease
c.*2186A>G Single submitter
c.*263C>A Single submitter maple syrup urine disease
c.*83C>T Single submitter maple syrup urine disease
p.Ala143= Single submitter maple syrup urine disease
p.Ala145= Single submitter maple syrup urine disease
p.Ala156= Single submitter maple syrup urine disease
p.Ala16= Single submitter maple syrup urine disease
p.Ala164= Single submitter maple syrup urine disease
p.Ala165= Single submitter maple syrup urine disease
p.Ala2= Single submitter maple syrup urine disease
p.Ala205= Single submitter maple syrup urine disease
p.Ala263= Single submitter maple syrup urine disease
p.Ala276= Single submitter maple syrup urine disease
p.Ala32= Single submitter maple syrup urine disease
p.Ala39= Single submitter maple syrup urine disease
p.Ala40= Single submitter maple syrup urine disease
p.Ala45= Single submitter maple syrup urine disease
p.Ala46= Single submitter maple syrup urine disease
p.Ala5= Single submitter maple syrup urine disease
p.Ala6= Single submitter maple syrup urine disease
p.Ala7= Single submitter maple syrup urine disease
p.Ala8= Single submitter maple syrup urine disease
p.Ala86= Single submitter maple syrup urine disease
p.Arg105= Single submitter maple syrup urine disease
p.Arg111= Single submitter maple syrup urine disease
p.Arg13= Single submitter maple syrup urine disease
p.Arg15= Single submitter maple syrup urine disease
p.Arg168= Single submitter maple syrup urine disease
p.Arg170= Single submitter maple syrup urine disease
p.Arg183= Single submitter maple syrup urine disease
p.Arg24= Single submitter maple syrup urine disease
p.Arg305= Single submitter maple syrup urine disease
p.Arg324= Single submitter maple syrup urine disease
p.Arg33= Single submitter maple syrup urine disease
p.Arg48_Arg49= Single submitter maple syrup urine disease
p.Arg49= Single submitter maple syrup urine disease
p.Asn233= Single submitter maple syrup urine disease
p.Asn257= Single submitter maple syrup urine disease
p.Asp112= Single submitter maple syrup urine disease
p.Asp158= Single submitter maple syrup urine disease
p.Asp231= Single submitter
p.Asp271= Single submitter maple syrup urine disease
p.Asp313= Single submitter maple syrup urine disease
p.Asp364= Single submitter maple syrup urine disease
p.Cys235= Single submitter maple syrup urine disease
p.Gln47= Single submitter maple syrup urine disease
p.Gln67= Single submitter maple syrup urine disease
p.Glu126= Single submitter maple syrup urine disease
p.Glu249= Single submitter maple syrup urine disease
p.Glu268= Single submitter maple syrup urine disease
p.Glu286= Single submitter maple syrup urine disease
p.Glu300= Single submitter maple syrup urine disease
p.Glu347= Single submitter maple syrup urine disease
p.Glu354= Single submitter maple syrup urine disease
p.Glu43Gly Single submitter Inborn genetic diseases
p.Glu64= Single submitter maple syrup urine disease
p.Gly140= Single submitter maple syrup urine disease
p.Gly172= Single submitter maple syrup urine disease
p.Gly178= Single submitter maple syrup urine disease
p.Gly187= Single submitter maple syrup urine disease
p.Gly192= Single submitter maple syrup urine disease
p.Gly21= Single submitter maple syrup urine disease
p.Gly278= Single submitter maple syrup urine disease
p.Gly28= Single submitter maple syrup urine disease
p.Gly30= Single submitter maple syrup urine disease
p.Gly323= Single submitter maple syrup urine disease
p.Gly335= Single submitter maple syrup urine disease
p.Gly34= Single submitter maple syrup urine disease
p.Gly9= Single submitter maple syrup urine disease
p.Gly95= Single submitter maple syrup urine disease
p.His191= Single submitter maple syrup urine disease
p.His282= Single submitter maple syrup urine disease
p.His369= Single submitter maple syrup urine disease
p.His37= Single submitter maple syrup urine disease
p.Ile134= Single submitter maple syrup urine disease
p.Ile144= Single submitter maple syrup urine disease
p.Ile182= Single submitter maple syrup urine disease
p.Ile236= Single submitter maple syrup urine disease
p.Ile258= Single submitter maple syrup urine disease
p.Ile376= Single submitter maple syrup urine disease
p.Leu11= Single submitter maple syrup urine disease
p.Leu12= Single submitter maple syrup urine disease
p.Leu124= Single submitter maple syrup urine disease
p.Leu14= Single submitter maple syrup urine disease
p.Leu174= Single submitter maple syrup urine disease
p.Leu180= Single submitter maple syrup urine disease
p.Leu194= Single submitter maple syrup urine disease
p.Leu226= Single submitter maple syrup urine disease
p.Leu260= Single submitter maple syrup urine disease
p.Leu325= Single submitter maple syrup urine disease
p.Leu326= Single submitter maple syrup urine disease
p.Leu353= Single submitter maple syrup urine disease
p.Leu386= Single submitter maple syrup urine disease
p.Leu81= Single submitter maple syrup urine disease
p.Leu85= Single submitter maple syrup urine disease
p.Lys166= Single submitter maple syrup urine disease
p.Lys294= Single submitter maple syrup urine disease
p.Lys379= Single submitter maple syrup urine disease
p.Lys381= Single submitter maple syrup urine disease
p.Phe104= Single submitter maple syrup urine disease
p.Phe120= Single submitter maple syrup urine disease
p.Phe175= Single submitter maple syrup urine disease
p.Phe219= Single submitter maple syrup urine disease
p.Phe238= Single submitter maple syrup urine disease
p.Pro123= Single submitter maple syrup urine disease
p.Pro185= Single submitter maple syrup urine disease
p.Pro200= Single submitter maple syrup urine disease
p.Pro215= Single submitter maple syrup urine disease
p.Pro234= Single submitter maple syrup urine disease
p.Pro252= Single submitter maple syrup urine disease
p.Pro255= Single submitter maple syrup urine disease
p.Pro259= Single submitter maple syrup urine disease
p.Pro27= Single submitter maple syrup urine disease
p.Pro332= Single submitter maple syrup urine disease
p.Pro373= Single submitter maple syrup urine disease
p.Pro38= Single submitter maple syrup urine disease
p.Pro58= Single submitter maple syrup urine disease
p.Pro89= Single submitter maple syrup urine disease
p.Ser179= Single submitter maple syrup urine disease
p.Ser184= Single submitter maple syrup urine disease
p.Ser197= Single submitter maple syrup urine disease
p.Ser217= Single submitter maple syrup urine disease
p.Ser227= Single submitter maple syrup urine disease
p.Ser339= Single submitter
p.Ser343= Single submitter maple syrup urine disease
p.Ser76= Single submitter maple syrup urine disease
p.Thr107= Single submitter maple syrup urine disease
p.Thr142= Single submitter maple syrup urine disease
p.Thr334= Single submitter maple syrup urine disease
p.Thr344= Single submitter maple syrup urine disease
p.Thr365= Single submitter maple syrup urine disease
p.Thr41= Single submitter maple syrup urine disease
p.Thr55= Single submitter maple syrup urine disease
p.Thr90= Single submitter maple syrup urine disease
p.Tyr167= Single submitter maple syrup urine disease
p.Tyr169= Single submitter maple syrup urine disease
p.Tyr256= Single submitter maple syrup urine disease
p.Tyr375= Single submitter
p.Tyr383= Single submitter maple syrup urine disease
p.Val161= Single submitter maple syrup urine disease
p.Val189= Single submitter maple syrup urine disease
p.Val212= Single submitter maple syrup urine disease
p.Val251= Single submitter maple syrup urine disease
p.Val287= Single submitter maple syrup urine disease
p.Val3= Single submitter maple syrup urine disease
p.Val301= Single submitter maple syrup urine disease
p.Val4= Single submitter maple syrup urine disease
p.Val42= Single submitter maple syrup urine disease
c.951+27209A>G No assertion criteria maple syrup urine disease type 1A
c.952-16_952-15del No assertion criteria maple syrup urine disease type 1A

Uncertain significance 200

c.196+5G>A Multiple submitters maple syrup urine disease
c.951+4T>C Multiple submitters maple syrup urine disease
c.*13G>A Multiple submitters maple syrup urine disease
p.Ala145Val Multiple submitters Inborn genetic diseases ⚠
p.Ala150Val Multiple submitters maple syrup urine disease ⚠
p.Ala39Thr Multiple submitters maple syrup urine disease ⚠
p.Ala40Val Multiple submitters Inborn genetic diseases ⚠
p.Arg285Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn83Lys Multiple submitters ⚠
p.Asp117Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp82Gly Multiple submitters maple syrup urine disease ⚠
p.Cys177Arg Multiple submitters maple syrup urine disease ⚠
p.Glu372Val Multiple submitters maple syrup urine disease ⚠
p.Gly34Ser Multiple submitters Inborn genetic diseases ⚠
p.His282Arg Multiple submitters ⚠
p.Ile229Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile242Met Multiple submitters maple syrup urine disease ⚠
p.Ile302Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile390Val Multiple submitters maple syrup urine disease type 1A ⚠
p.Leu243Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu353Val Multiple submitters maple syrup urine disease ⚠
p.Lys388Glu Multiple submitters Inborn genetic diseases ⚠
p.Pro27Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr122Ile Multiple submitters maple syrup urine disease ⚠
p.Thr279Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr344Ile Multiple submitters maple syrup urine disease ⚠
p.Thr90Ile Multiple submitters ⚠
p.Tyr383Asp Multiple submitters maple syrup urine disease ⚠
p.Tyr392Cys Multiple submitters Inborn genetic diseases ⚠
p.Val130Ala Multiple submitters Inborn genetic diseases ⚠
p.Val4Ile Multiple submitters maple syrup urine disease ⚠
c.1038+5A>T Single submitter maple syrup urine disease
c.1039-10_1039-9del Single submitter maple syrup urine disease
c.1039-10C>G Single submitter maple syrup urine disease
c.1039-9dup Single submitter maple syrup urine disease
c.196+3G>T Single submitter maple syrup urine disease
c.274+5C>T Single submitter maple syrup urine disease
c.343+2dup Single submitter maple syrup urine disease
c.-15C>T Single submitter maple syrup urine disease
c.*1008T>C Single submitter maple syrup urine disease
c.*1010A>G Single submitter maple syrup urine disease
c.*1143A>G Single submitter maple syrup urine disease
c.*1162T>C Single submitter maple syrup urine disease
c.*1279A>G Single submitter maple syrup urine disease
c.*1315G>A Single submitter maple syrup urine disease
c.*1554C>G Single submitter maple syrup urine disease
c.*1603G>A Single submitter maple syrup urine disease
c.*1908A>G Single submitter maple syrup urine disease
c.*1909T>C Single submitter maple syrup urine disease
c.*2018A>G Single submitter maple syrup urine disease
c.*2212T>C Single submitter maple syrup urine disease
c.*2224T>A Single submitter maple syrup urine disease
c.*2245C>G Single submitter maple syrup urine disease
c.*466G>T Single submitter maple syrup urine disease
c.*501A>G Single submitter maple syrup urine disease
c.*540T>C Single submitter maple syrup urine disease
c.*569G>A Single submitter maple syrup urine disease
c.*574A>G Single submitter maple syrup urine disease
c.*644C>T Single submitter maple syrup urine disease
c.*777G>C Single submitter maple syrup urine disease
c.*896A>G Single submitter maple syrup urine disease
c.*921C>T Single submitter maple syrup urine disease
c.*922A>G Single submitter maple syrup urine disease
p.Ala143Thr Single submitter maple syrup urine disease type 1B ⚠
p.Ala165Pro Single submitter ⚠
p.Ala16Glu Single submitter maple syrup urine disease ⚠
p.Ala19Val Single submitter maple syrup urine disease ⚠
p.Ala202Thr Single submitter maple syrup urine disease ⚠
p.Ala202Val Single submitter ⚠
p.Ala263Gly Single submitter Inborn genetic diseases ⚠
p.Ala276Gly Single submitter maple syrup urine disease ⚠
p.Ala288Pro Single submitter maple syrup urine disease ⚠
p.Ala2Val Single submitter maple syrup urine disease ⚠
p.Ala355Pro Single submitter ⚠
p.Ala7Thr Single submitter maple syrup urine disease ⚠
p.Ala80Gly Single submitter maple syrup urine disease ⚠
p.Ala80Thr Single submitter maple syrup urine disease ⚠
p.Ala8Gly Single submitter maple syrup urine disease ⚠
p.Arg111Gln Single submitter Inborn genetic diseases ⚠
p.Arg111Gly Single submitter ⚠
p.Arg13Gly Single submitter maple syrup urine disease ⚠
p.Arg168Pro Single submitter ⚠
p.Arg324Gln Single submitter maple syrup urine disease ⚠
p.Arg33Gln Single submitter maple syrup urine disease ⚠
p.Arg359Ser Single submitter ⚠
p.Asn391Lys Single submitter maple syrup urine disease ⚠
p.Asp271Ala Single submitter maple syrup urine disease ⚠
p.Asp378Asn Single submitter maple syrup urine disease ⚠
p.Asp378Gly Single submitter maple syrup urine disease ⚠
p.Asp384His Single submitter Inborn genetic diseases ⚠
p.Asp44Gly Single submitter maple syrup urine disease ⚠
p.Asp88Val Single submitter maple syrup urine disease ⚠
p.Cys299Ser Single submitter maple syrup urine disease ⚠
p.Gln148His Single submitter maple syrup urine disease ⚠
p.Gln198Leu Single submitter maple syrup urine disease ⚠
p.Gln262His Single submitter Inborn genetic diseases ⚠
p.Gln57His Single submitter maple syrup urine disease ⚠
p.Gln67Arg Single submitter maple syrup urine disease ⚠
p.Glu239Lys Single submitter ⚠
p.Glu264Lys Single submitter maple syrup urine disease
p.Glu330Gly Single submitter maple syrup urine disease ⚠
p.Glu348Lys Single submitter maple syrup urine disease ⚠
p.Gly101Ser Single submitter maple syrup urine disease ⚠
p.Gly109Arg Single submitter Inborn genetic diseases ⚠
p.Gly109Ser Single submitter Inborn genetic diseases ⚠
p.Gly133Glu Single submitter maple syrup urine disease ⚠
p.Gly190Ala Single submitter maple syrup urine disease ⚠
p.Gly192Arg Single submitter ⚠
p.Gly192Glu Single submitter maple syrup urine disease type 1A ⚠
p.Gly223Arg Single submitter maple syrup urine disease type 1A ⚠
p.Gly296Ala Single submitter Inborn genetic diseases ⚠
p.Gly323Ala Single submitter maple syrup urine disease ⚠
p.Gly9Ala Single submitter maple syrup urine disease ⚠
p.His206Gln Single submitter ⚠
p.His206Pro Single submitter maple syrup urine disease ⚠
p.His22Gln Single submitter Inborn genetic diseases ⚠
p.His22Tyr Single submitter Inborn genetic diseases ⚠
p.His282Pro Single submitter maple syrup urine disease ⚠
p.His53Pro Single submitter ⚠
p.Ile182Leu Single submitter maple syrup urine disease type 1B ⚠
p.Ile236Thr Single submitter Inborn genetic diseases ⚠
p.Ile253Leu Single submitter maple syrup urine disease ⚠
p.Ile258Phe Single submitter maple syrup urine disease ⚠
p.Ile266Val Single submitter maple syrup urine disease ⚠
p.Ile307Leu Single submitter Inborn genetic diseases ⚠
p.Ile357Met Single submitter Inborn genetic diseases ⚠
p.Ile357Thr Single submitter maple syrup urine disease ⚠
p.Ile370Val Single submitter Inborn genetic diseases ⚠
p.Ile390Asn Single submitter Inborn genetic diseases ⚠
p.Leu225Pro Single submitter maple syrup urine disease ⚠
p.Leu225Val Single submitter maple syrup urine disease ⚠
p.Leu26Pro Single submitter maple syrup urine disease ⚠
p.Leu274Pro Single submitter maple syrup urine disease ⚠
p.Leu274Val Single submitter Inborn genetic diseases ⚠
p.Leu31Pro Single submitter maple syrup urine disease ⚠
p.Lys113Arg Single submitter maple syrup urine disease ⚠
p.Lys166Met Single submitter maple syrup urine disease ⚠
p.Lys292Glu Single submitter Inborn genetic diseases ⚠
p.Lys379Thr Single submitter Inborn genetic diseases
p.Lys70Thr Single submitter Inborn genetic diseases ⚠
p.Lys87Arg Single submitter Inborn genetic diseases ⚠
p.Met389Leu Single submitter ⚠
p.Phe238Ser Single submitter maple syrup urine disease type 1B ⚠
p.Phe371Ser Single submitter maple syrup urine disease ⚠
p.Pro123Ala Single submitter Inborn genetic diseases ⚠
p.Pro123Leu Single submitter ⚠
p.Pro123Ser Single submitter maple syrup urine disease ⚠
p.Pro155Arg Single submitter maple syrup urine disease
p.Pro185Ser Single submitter Inborn genetic diseases ⚠
p.Pro200Thr Single submitter Inborn genetic diseases ⚠
p.Pro218Ser Single submitter ⚠
p.Pro366Leu Single submitter maple syrup urine disease ⚠
p.Pro377Leu Single submitter maple syrup urine disease ⚠
p.Pro58Arg Single submitter maple syrup urine disease ⚠
p.Pro60Leu Single submitter Inborn genetic diseases ⚠
p.Pro89Leu Single submitter Inborn genetic diseases ⚠
p.Ser171Pro Single submitter ⚠
p.Ser261Pro Single submitter ⚠
p.Ser289Phe Single submitter maple syrup urine disease ⚠
p.Ser289Pro Single submitter Inborn genetic diseases
p.Ser318Phe Single submitter maple syrup urine disease ⚠
p.Ser328Ile Single submitter ⚠
p.Thr107Ser Single submitter maple syrup urine disease ⚠
p.Thr273Ser Single submitter maple syrup urine disease ⚠
p.Thr68Ile Single submitter maple syrup urine disease ⚠
p.Thr90Ala Single submitter Inborn genetic diseases ⚠
p.Trp186Arg Single submitter maple syrup urine disease type 1A ⚠
p.Tyr152Asp Single submitter maple syrup urine disease ⚠
p.Tyr167Cys Single submitter ⚠
p.Tyr167His Single submitter maple syrup urine disease ⚠
p.Tyr65Asp Single submitter maple syrup urine disease ⚠
p.Val265Ala Single submitter maple syrup urine disease ⚠
p.Val3_Ala6dup Single submitter maple syrup urine disease
p.Val4Leu Single submitter Inborn genetic diseases ⚠
c.1038+4G>A No assertion criteria maple syrup urine disease type 1B
c.343+5G>A No assertion criteria maple syrup urine disease type 1B
c.633+3A>G No assertion criteria maple syrup urine disease type 1B
c.840+5G>A No assertion criteria maple syrup urine disease type 1B
c.840+9C>T No assertion criteria maple syrup urine disease type 1B
c.*5A>G No assertion criteria maple syrup urine disease type 1B
p.Ala52Val No assertion criteria maple syrup urine disease type 1B ⚠
p.Ala5Pro No assertion criteria maple syrup urine disease type 1B ⚠
p.Arg13Ser No assertion criteria maple syrup urine disease type 1B ⚠
p.Arg13Trp No assertion criteria maple syrup urine disease type 1B ⚠
p.Arg324Pro No assertion criteria maple syrup urine disease type 1B ⚠
p.Asp173Tyr No assertion criteria maple syrup urine disease type 1A ⚠
p.Asp311His No assertion criteria maple syrup urine disease type 1A ⚠
p.Asp313Asn No assertion criteria maple syrup urine disease type 1B ⚠
p.Glu254_Pro255del No assertion criteria maple syrup urine disease type 1B
p.Gly115Arg No assertion criteria maple syrup urine disease type 1B ⚠
p.Leu14Arg No assertion criteria maple syrup urine disease type 1B ⚠
p.Leu180Val No assertion criteria maple syrup urine disease type 1B ⚠
p.Leu295Ile No assertion criteria maple syrup urine disease type 1B ⚠
p.Met290Val No assertion criteria maple syrup urine disease type 1B ⚠
p.Phe337Leu No assertion criteria maple syrup urine disease type 1B ⚠
p.Ser179Arg No assertion criteria maple syrup urine disease type 1B ⚠
p.Ser342Ile No assertion criteria maple syrup urine disease type 1B ⚠
p.Ser342Thr No assertion criteria maple syrup urine disease type 1B ⚠
p.Thr68= No assertion criteria maple syrup urine disease type 1B
p.Val345Leu No assertion criteria maple syrup urine disease type 1B