DBT — 802 ClinVar variants
All ClinVar germline DBT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →
65 Pathogenic · 22 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 27 Conflicting · 62 Benign · 14 Benign/Likely benign · 323 Likely benign · 222 Uncertain significance
Full DBT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 129
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.
-
DBT p.Arg301Cys
Pathogenic/Likely pathogenic
Multiple submitters
maple syrup urine disease type 2
-
DBT p.Arg376Cys
Pathogenic/Likely pathogenic
Multiple submitters
maple syrup urine disease type 2
-
DBT p.Arg291Gln
Likely pathogenic
Single submitter
maple syrup urine disease
-
DBT p.Arg462Cys
Likely pathogenic
Single submitter
maple syrup urine disease
-
DBT p.Asn400Ser
Likely pathogenic
Single submitter
maple syrup urine disease type 2
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DBT p.Arg291Leu
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Arg431Pro
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Arg61His
Conflicting
Single submitter
Inborn genetic diseases
-
DBT p.Leu69Pro
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Met477Arg
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Met6Val
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Phe322Leu
Conflicting
Single submitter
Inborn genetic diseases
-
DBT p.Pro245Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DBT p.Trp84Arg
Conflicting
Single submitter
maple syrup urine disease type 1A
Predictors lean, ClinVar uncertain 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DBT p.Ala450Thr
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Arg12Ser
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Arg61Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBT p.Gly406Val
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Gly421Trp
Uncertain significance
Multiple submitters
maple syrup urine disease
- DBT p.His342Asp Uncertain significance Multiple submitters
- DBT p.His342Tyr Uncertain significance Multiple submitters
-
DBT p.Ile138Thr
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Ile225Leu
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Lys46Arg
Uncertain significance
Multiple submitters
maple syrup urine disease type 2
-
DBT p.Thr171Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBT p.Val151Ile
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Val191Gly
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Val29Ala
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Ala422Thr
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ala428Val
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Arg178Cys
Uncertain significance
Single submitter
maple syrup urine disease type 2
-
DBT p.Arg178His
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Arg179Cys Uncertain significance Single submitter
-
DBT p.Arg199Gly
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Arg77Lys
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Asn326Lys
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Asp159Asn
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Asp204Tyr
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Asp390His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Asp451His
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Asp456Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Asp456Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Cys365Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Cys38Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Gln321His
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Gln378Pro Uncertain significance Single submitter
-
DBT p.Glu160Ala
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Glu417Lys
Uncertain significance
Single submitter
maple syrup urine disease type 2
-
DBT p.Gly405Arg
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ile200Thr
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ile239Leu
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ile346Val
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ile426Val
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ile72Thr
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Leu354Ser
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Leu69Arg Uncertain significance Single submitter
-
DBT p.Lys167Thr
Uncertain significance
Single submitter
maple syrup urine disease type 1A
-
DBT p.Lys261Glu
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Met226Val
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Met263Ile Uncertain significance Single submitter
-
DBT p.Phe311Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Pro474Thr
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Ser366Pro Uncertain significance Single submitter
- DBT p.Ser70Leu Uncertain significance Single submitter
-
DBT p.Thr285Pro
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Thr395Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Thr397Ile
Uncertain significance
Single submitter
maple syrup urine disease type 2
-
DBT p.Tyr122His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Val131Met
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Val223Ile
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Val237Leu
Uncertain significance
Single submitter
maple syrup urine disease
Predictors split 58
The independent predictors disagree with each other — read with care.
-
DBT p.Ala2Thr
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Ala300Val
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Ala371Thr
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Arg179His
Likely benign
Multiple submitters
maple syrup urine disease
-
DBT p.Arg21Cys
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Arg376His
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Asn13Asp
Benign/Likely benign
Multiple submitters
maple syrup urine disease
-
DBT p.Asn465Ser
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Cys279Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBT p.Gly193Ser
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Ile98Val
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Met263Val
Uncertain significance
Multiple submitters
maple syrup urine disease
-
DBT p.Thr407Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DBT p.Ala2Val
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Ala314Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ala327Thr
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ala458Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Ala458Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Arg12Gly
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Arg21His
Conflicting
Single submitter
Inborn genetic diseases
-
DBT p.Arg301His
Conflicting
Single submitter
maple syrup urine disease type 2
-
DBT p.Arg462His
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Arg5His
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Asn332Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Asn473Ser
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Asp127His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Asp390Glu
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Gln321Leu
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Gln334His
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Gln378Arg Uncertain significance Single submitter
-
DBT p.Glu331Lys
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Glu351Gln
Likely benign
Single submitter
maple syrup urine disease
-
DBT p.Glu437Lys
Conflicting
Single submitter
maple syrup urine disease type 1A
-
DBT p.Gly214Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Ile401Thr
Conflicting
Single submitter
maple syrup urine disease type 2
-
DBT p.Ile404Met
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Ile420Val Uncertain significance Single submitter
-
DBT p.Ile429Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Ile455Thr
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Ile72Val Uncertain significance Single submitter
-
DBT p.Leu180Val
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Leu284Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Leu305Phe
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Leu391Phe
Uncertain significance
Single submitter
maple syrup urine disease
- DBT p.Leu398Phe Uncertain significance Single submitter
-
DBT p.Lys133Met
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Lys211Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Lys272Arg
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Lys295Arg
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Lys295Gln
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Lys295Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Lys410Asn
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Pro134Leu
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Pro245Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DBT p.Ser306Cys
Conflicting
Single submitter
maple syrup urine disease
-
DBT p.Thr459Ala
Uncertain significance
Single submitter
maple syrup urine disease
-
DBT p.Tyr122Cys
Conflicting
Single submitter
maple syrup urine disease type 1A
-
DBT p.Val223Gly
Uncertain significance
Single submitter
maple syrup urine disease
All DBT variants
Pathogenic 65
- c.773-2A>G Multiple submitters maple syrup urine disease type 2
- p.Arg291Ter Multiple submitters maple syrup urine disease
- p.Arg431Ter Multiple submitters maple syrup urine disease type 1A
- p.Arg462Pro Multiple submitters maple syrup urine disease
- p.Cys26fs Multiple submitters maple syrup urine disease type 2
- p.Glu224Ter Multiple submitters maple syrup urine disease type 2
- p.Lys120fs Multiple submitters maple syrup urine disease type 2
- p.Lys313Asn Multiple submitters maple syrup urine disease type 2
- p.Met444_Asn445insTer Multiple submitters maple syrup urine disease
- p.Pro238fs Multiple submitters maple syrup urine disease type 2
- p.Ser242Ter Multiple submitters maple syrup urine disease
- p.Ser306Pro Multiple submitters maple syrup urine disease
- p.Thr91fs Multiple submitters maple syrup urine disease
- p.Trp448Ter Multiple submitters maple syrup urine disease
- p.Tyr42Ter Multiple submitters maple syrup urine disease
- c.1209+1G>A Single submitter maple syrup urine disease
- c.1281+2T>A Single submitter maple syrup urine disease
- c.433+1G>T Single submitter
- c.52-1G>C Single submitter maple syrup urine disease type 1A
- c.939+2T>C Single submitter maple syrup urine disease type 2
- p.Ala173fs Single submitter maple syrup urine disease
- p.Ala262fs Single submitter maple syrup urine disease
- p.Ala300fs Single submitter maple syrup urine disease type 2
- p.Ala422fs Single submitter maple syrup urine disease
- p.Arg178fs Single submitter maple syrup urine disease
- p.Asn361fs Single submitter maple syrup urine disease
- p.Asp104Gly Single submitter maple syrup urine disease
- p.Gln102Ter Single submitter maple syrup urine disease
- p.Gln321fs Single submitter maple syrup urine disease
- p.Gln363Ter Single submitter maple syrup urine disease
- p.Gln378Ter Single submitter maple syrup urine disease
- p.Gln442Ter Single submitter maple syrup urine disease
- p.Glu160fs Single submitter maple syrup urine disease
- p.Glu254fs Single submitter maple syrup urine disease
- p.Glu83fs Single submitter maple syrup urine disease
- p.Glu88fs Single submitter maple syrup urine disease
- p.Gly214fs Single submitter maple syrup urine disease
- p.Gly345Arg Single submitter maple syrup urine disease
- p.His163fs Single submitter maple syrup urine disease
- p.Ile186fs Single submitter maple syrup urine disease
- p.Leu217fs Single submitter maple syrup urine disease
- p.Leu294Ter Single submitter maple syrup urine disease
- p.Lys167fs Single submitter maple syrup urine disease
- p.Lys222fs Single submitter maple syrup urine disease
- p.Lys304fs Single submitter maple syrup urine disease
- p.Met263Thr Single submitter maple syrup urine disease
- p.Met267fs Single submitter maple syrup urine disease
- p.Met6fs Single submitter maple syrup urine disease
- p.Pro411Leu Single submitter maple syrup urine disease
- p.Ser146Ter Single submitter maple syrup urine disease
- p.Ser316fs Single submitter maple syrup urine disease
- p.Ser399fs Single submitter maple syrup urine disease
- p.Ser461Ter Single submitter maple syrup urine disease
- p.Thr80_Val81insTer Single submitter maple syrup urine disease
- p.Trp448fs Single submitter maple syrup urine disease
- p.Tyr114fs Single submitter
- p.Tyr122fs Single submitter maple syrup urine disease
- c.1017+1del No assertion criteria maple syrup urine disease type 2
- c.1282-4142_*(434_435 No assertion criteria maple syrup urine disease type 2
- c.434_435insAATACCTTGTTACCAGA No assertion criteria maple syrup urine disease type 2
- c.48_171del No assertion criteria maple syrup urine disease type 2
- p.His452Arg No assertion criteria maple syrup urine disease type 2
- p.Ile98Met No assertion criteria maple syrup urine disease type 2
- p.Ser194Ter No assertion criteria maple syrup urine disease type 2
- p.Ter483Leu No assertion criteria maple syrup urine disease type 2
Pathogenic/Likely pathogenic 22
- c.1018-550A>G Multiple submitters DBT-related disorder
- c.1281+1G>A Multiple submitters maple syrup urine disease type 2
- c.1281+1G>T Multiple submitters maple syrup urine disease
- c.434-15_434-4del Multiple submitters maple syrup urine disease type 1A
- c.51+1G>T Multiple submitters maple syrup urine disease type 2
- c.52-1G>A Multiple submitters maple syrup urine disease
- p.Arg301Cys Multiple submitters maple syrup urine disease type 2 ⚠
- p.Arg376Cys Multiple submitters maple syrup urine disease type 2 ⚠
- p.Cys38fs Multiple submitters maple syrup urine disease
- p.Gln212Ter Multiple submitters maple syrup urine disease type 1A
- p.Gln321Ter Multiple submitters maple syrup urine disease
- p.Gln94Ter Multiple submitters maple syrup urine disease type 2
- p.Glu148Ter Multiple submitters maple syrup urine disease
- p.Glu88del Multiple submitters maple syrup urine disease type 1A
- p.His49fs Multiple submitters maple syrup urine disease
- p.Lys339= Multiple submitters maple syrup urine disease type 1A
- p.Phe276Cys Multiple submitters maple syrup urine disease type 2
- p.Phe276fs Multiple submitters maple syrup urine disease
- p.Ser399Ala Multiple submitters maple syrup urine disease type 2
- p.Thr153fs Multiple submitters maple syrup urine disease
- p.Trp10Ter Multiple submitters maple syrup urine disease
- p.Trp84Cys Multiple submitters maple syrup urine disease type 1A
Likely pathogenic 67
- p.Arg169Ter Multiple submitters maple syrup urine disease type 2
- p.Gly132Arg Multiple submitters maple syrup urine disease
- p.Ile420Thr Multiple submitters maple syrup urine disease type 2
- p.Ser399Cys Multiple submitters maple syrup urine disease
- p.Thr388_Thr389insTer Multiple submitters maple syrup urine disease
- p.Trp467Ter Multiple submitters maple syrup urine disease
- c.1017+1G>A Single submitter maple syrup urine disease
- c.1017+1G>T Single submitter maple syrup urine disease
- c.1018-2A>T Single submitter maple syrup urine disease
- c.1210-1G>C Single submitter maple syrup urine disease
- c.1210-62_1220delinsATCTAAAAAAATAGATCA Single submitter DBT-related disorder
- c.1281+1G>C Single submitter maple syrup urine disease
- c.1282-1G>A Single submitter maple syrup urine disease type 2
- c.175+1G>A Single submitter maple syrup urine disease
- c.176-1G>A Single submitter maple syrup urine disease type 2
- c.252-1G>A Single submitter maple syrup urine disease type 2
- c.252-1G>T Single submitter maple syrup urine disease
- c.252-2A>G Single submitter maple syrup urine disease
- c.252-2A>T Single submitter maple syrup urine disease
- c.434-1G>A Single submitter maple syrup urine disease
- c.434-1G>C Single submitter maple syrup urine disease
- c.51+1G>A Single submitter maple syrup urine disease
- c.556-2A>G Single submitter maple syrup urine disease
- c.772+1G>C Single submitter maple syrup urine disease
- c.772+2T>G Single submitter maple syrup urine disease
- c.939+2del Single submitter maple syrup urine disease type 1A
- p.Ala2fs Single submitter maple syrup urine disease type 2
- p.Arg179fs Single submitter maple syrup urine disease
- p.Arg199fs Single submitter maple syrup urine disease
- p.Arg291Gln Single submitter maple syrup urine disease ⚠
- p.Arg462Cys Single submitter maple syrup urine disease ⚠
- p.Arg462fs Single submitter maple syrup urine disease
- p.Asn400Ser Single submitter maple syrup urine disease type 2 ⚠
- p.Asp104Val Single submitter maple syrup urine disease
- p.Cys99Tyr Single submitter maple syrup urine disease
- p.Gln24Ter Single submitter maple syrup urine disease
- p.Gln63Ter Single submitter maple syrup urine disease
- p.Gln66Ter Single submitter maple syrup urine disease
- p.Glu100Ter Single submitter maple syrup urine disease
- p.Gly302Ter Single submitter maple syrup urine disease
- p.Gly75Glu Single submitter maple syrup urine disease
- p.Ile413Thr Single submitter maple syrup urine disease
- p.Lys46fs Single submitter maple syrup urine disease
- p.Met414fs Single submitter maple syrup urine disease
- p.Phe259fs Single submitter maple syrup urine disease
- p.Phe53_Leu54insTer Single submitter maple syrup urine disease type 2
- p.Pro244fs Single submitter
- p.Pro274Thr Single submitter maple syrup urine disease
- p.Ser189fs Single submitter maple syrup urine disease
- p.Ser306fs Single submitter maple syrup urine disease type 1A
- p.Ser403Ter Single submitter maple syrup urine disease
- p.Ser425Ter Single submitter maple syrup urine disease
- p.Ser449Ter Single submitter maple syrup urine disease type 2
- p.Ser44Ter Single submitter maple syrup urine disease
- p.Ser70Ter Single submitter maple syrup urine disease
- p.Ter483Arg Single submitter
- p.Thr109fs Single submitter maple syrup urine disease
- p.Thr171fs Single submitter maple syrup urine disease
- p.Thr248fs Single submitter maple syrup urine disease
- p.Thr395Ile Single submitter maple syrup urine disease
- p.Trp84Ter Single submitter maple syrup urine disease type 2
- p.Val192fs Single submitter maple syrup urine disease
- c.1282-5_1282-2del No assertion criteria maple syrup urine disease type 1A
- c.555+1G>A No assertion criteria maple syrup urine disease type 1A
- p.Leu121fs No assertion criteria maple syrup urine disease type 1A
- p.Lys87fs No assertion criteria maple syrup urine disease type 1A
- p.Tyr47_Ser48delinsTer No assertion criteria maple syrup urine disease type 1A
Conflicting classifications of pathogenicity 27
- c.1210-10dup Single submitter maple syrup urine disease
- c.1210-11_1210-10inv Single submitter maple syrup urine disease
- c.51+1G>C Single submitter maple syrup urine disease type 2
- p.Ala2Val Single submitter maple syrup urine disease ⚠
- p.Arg21His Single submitter Inborn genetic diseases ⚠
- p.Arg291Leu Single submitter maple syrup urine disease ⚠
- p.Arg301His Single submitter maple syrup urine disease type 2 ⚠
- p.Arg431Pro Single submitter maple syrup urine disease ⚠
- p.Arg61His Single submitter Inborn genetic diseases ⚠
- p.Asn473Ser Single submitter maple syrup urine disease ⚠
- p.Asp251= Single submitter maple syrup urine disease
- p.Gln66= Single submitter maple syrup urine disease
- p.Glu437Lys Single submitter maple syrup urine disease type 1A ⚠
- p.Ile401Thr Single submitter maple syrup urine disease type 2 ⚠
- p.Leu69Pro Single submitter maple syrup urine disease ⚠
- p.Met1Val Single submitter maple syrup urine disease
- p.Met477Arg Single submitter maple syrup urine disease ⚠
- p.Met6Val Single submitter maple syrup urine disease ⚠
- p.Phe322Leu Single submitter Inborn genetic diseases ⚠
- p.Phe463= Single submitter maple syrup urine disease
- p.Pro134Leu Single submitter maple syrup urine disease ⚠
- p.Pro245Thr Single submitter Inborn genetic diseases ⚠
- p.Ser306Cys Single submitter maple syrup urine disease ⚠
- p.Ser97= Single submitter maple syrup urine disease
- p.Thr109= Single submitter maple syrup urine disease
- p.Trp84Arg Single submitter maple syrup urine disease type 1A ⚠
- p.Tyr122Cys Single submitter maple syrup urine disease type 1A ⚠
Benign 62
- c.1210-10_1210-9del Multiple submitters maple syrup urine disease
- c.1210-10del Multiple submitters maple syrup urine disease type 1A
- c.1210-10T>A Multiple submitters maple syrup urine disease
- c.1210-4del Multiple submitters maple syrup urine disease type 1A
- c.1210-9_1210-8insT Multiple submitters maple syrup urine disease
- c.1210-9A>T Multiple submitters maple syrup urine disease
- c.1282-14_1282-9del Multiple submitters maple syrup urine disease type 1A
- c.*3233C>T Multiple submitters maple syrup urine disease
- c.*344G>T Multiple submitters maple syrup urine disease
- c.*4395G>A Multiple submitters maple syrup urine disease
- c.*470G>A Multiple submitters maple syrup urine disease
- c.*5150A>G Multiple submitters maple syrup urine disease
- c.*5317T>C Multiple submitters maple syrup urine disease
- c.*5546G>A Multiple submitters maple syrup urine disease
- c.*5838G>A Multiple submitters maple syrup urine disease
- c.*6228A>T Multiple submitters maple syrup urine disease
- c.*6646G>T Multiple submitters maple syrup urine disease
- c.*6903T>A Multiple submitters maple syrup urine disease
- c.*8944A>G Multiple submitters maple syrup urine disease
- c.*9082C>T Multiple submitters maple syrup urine disease
- c.*985C>T Multiple submitters maple syrup urine disease
- p.Arg169Gln Multiple submitters maple syrup urine disease
- p.Ile239Val Multiple submitters maple syrup urine disease
- c.1018-10dup Single submitter maple syrup urine disease
- c.1018-3del Single submitter maple syrup urine disease
- c.1018-840T>C Single submitter
- c.1210-4dup Single submitter maple syrup urine disease
- c.1281+157del Single submitter
- c.1282-13_1282-10dup Single submitter
- c.1282-14_1282-10dup Single submitter
- c.1282-15_1282-10dup Single submitter
- c.1282-18_1282-10del Single submitter maple syrup urine disease
- c.1282-19_1282-10del Single submitter maple syrup urine disease
- c.1282-23_1282-10dup Single submitter
- c.1282-24_1282-10dup Single submitter maple syrup urine disease
- c.251+197T>C Single submitter
- c.433+300T>G Single submitter
- c.433+92dup Single submitter
- c.434-186del Single submitter
- c.434-187_434-186del Single submitter
- c.434-196dup Single submitter
- c.434-284T>G Single submitter
- c.555+276C>A Single submitter
- c.556-3dup Single submitter maple syrup urine disease
- c.773-232T>A Single submitter
- c.773-68dup Single submitter
- c.*2810A>G Single submitter maple syrup urine disease
- c.*4094C>A Single submitter maple syrup urine disease
- c.*4448GT[19] Single submitter
- c.*4478_*4507del Single submitter
- c.*4480_*4507del Single submitter
- c.*4482_*4507del Single submitter
- c.*4506A>G Single submitter maple syrup urine disease
- c.*4872A>G Single submitter maple syrup urine disease
- c.*5347C>T Single submitter maple syrup urine disease
- c.*594A>G Single submitter maple syrup urine disease
- c.*6114_*6115del Single submitter
- c.*6903del Single submitter
- c.*7358C>T Single submitter maple syrup urine disease
- c.*7679_*7681dup Single submitter
- c.*8554dup Single submitter
- c.*8977T>C Single submitter maple syrup urine disease
Benign/Likely benign 14
- c.1210-11T>A Multiple submitters maple syrup urine disease
- c.1210-8A>T Multiple submitters maple syrup urine disease
- c.1281+31T>G Multiple submitters maple syrup urine disease
- c.1281+6T>G Multiple submitters maple syrup urine disease
- c.1282-13_1282-9del Multiple submitters maple syrup urine disease type 1A
- c.1282-14_1282-10del Multiple submitters maple syrup urine disease
- c.175+37G>A Multiple submitters maple syrup urine disease
- c.251+19dup Multiple submitters maple syrup urine disease type 1A
- c.*2633AAAT[7] Multiple submitters maple syrup urine disease
- c.*5919A>G Multiple submitters maple syrup urine disease
- p.Asn13Asp Multiple submitters maple syrup urine disease ⚠
- p.Cys26Arg Multiple submitters maple syrup urine disease
- p.Ser242Pro Multiple submitters maple syrup urine disease type 1A
- p.Ser384Gly Multiple submitters maple syrup urine disease type 1A
Likely benign 323
Showing the top 300 by review status; the full set is in the sitemap.
- c.1017+8A>G Multiple submitters maple syrup urine disease
- c.251+105A>T Multiple submitters
- c.433+18A>G Multiple submitters maple syrup urine disease
- c.556-7T>C Multiple submitters maple syrup urine disease
- c.*8552A>T Multiple submitters maple syrup urine disease
- p.Arg179His Multiple submitters maple syrup urine disease ⚠
- p.Asn326= Multiple submitters Inborn genetic diseases
- p.Gly381= Multiple submitters maple syrup urine disease
- c.1017+10G>A Single submitter maple syrup urine disease
- c.1017+11C>G Single submitter maple syrup urine disease
- c.1017+15G>A Single submitter maple syrup urine disease
- c.1017+16T>A Single submitter maple syrup urine disease
- c.1017+9T>C Single submitter maple syrup urine disease
- c.1018-10T>A Single submitter maple syrup urine disease
- c.1018-157C>A Single submitter
- c.1018-15T>C Single submitter maple syrup urine disease
- c.1018-16A>T Single submitter maple syrup urine disease
- c.1018-17A>G Single submitter maple syrup urine disease
- c.1018-464A>G Single submitter
- c.1018-4T>C Single submitter maple syrup urine disease
- c.1018-743G>A Single submitter
- c.1018-7T>G Single submitter maple syrup urine disease
- c.1018-9A>G Single submitter maple syrup urine disease
- c.1018-9del Single submitter maple syrup urine disease
- c.1209+17A>C Single submitter
- c.1209+9_1209+10dup Single submitter maple syrup urine disease
- c.1209+9T>C Single submitter maple syrup urine disease
- c.1210-11_1210-9del Single submitter maple syrup urine disease
- c.1210-12T>A Single submitter maple syrup urine disease
- c.1210-12T>C Single submitter maple syrup urine disease
- c.1210-12T>G Single submitter maple syrup urine disease
- c.1210-18_1210-9del Single submitter maple syrup urine disease
- c.1210-23_1210-20del Single submitter maple syrup urine disease
- c.1210-8_1210-7insT Single submitter maple syrup urine disease
- c.1210-9_1210-8insTT Single submitter maple syrup urine disease
- c.1210-9_1210-8inv Single submitter maple syrup urine disease
- c.1281+10T>C Single submitter maple syrup urine disease
- c.1281+12A>G Single submitter maple syrup urine disease
- c.1281+13G>A Single submitter maple syrup urine disease
- c.1281+140dup Single submitter
- c.1281+156_1281+157del Single submitter
- c.1281+18C>T Single submitter maple syrup urine disease
- c.1281+20G>C Single submitter maple syrup urine disease
- c.1281+248G>A Single submitter
- c.1281+273A>G Single submitter
- c.1281+8_1281+20del Single submitter maple syrup urine disease
- c.1281+9A>G Single submitter maple syrup urine disease
- c.1282-10_1282-9dup Single submitter maple syrup urine disease
- c.1282-11_1282-9del Single submitter maple syrup urine disease
- c.1282-11T>A Single submitter maple syrup urine disease
- c.1282-12_1282-9del Single submitter maple syrup urine disease
- c.1282-13T>A Single submitter maple syrup urine disease
- c.1282-13T>C Single submitter maple syrup urine disease
- c.1282-14T>A Single submitter maple syrup urine disease
- c.1282-15_1282-9del Single submitter maple syrup urine disease
- c.1282-15T>A Single submitter maple syrup urine disease
- c.1282-16_1282-9del Single submitter maple syrup urine disease
- c.1282-16T>A Single submitter maple syrup urine disease
- c.1282-16T>C Single submitter maple syrup urine disease
- c.1282-18T>C Single submitter maple syrup urine disease
- c.1282-19T>C Single submitter maple syrup urine disease
- c.1282-20_1282-10del Single submitter maple syrup urine disease
- c.1282-20T>C Single submitter maple syrup urine disease
- c.1282-21_1282-10del Single submitter maple syrup urine disease
- c.1282-21_1282-10dup Single submitter maple syrup urine disease
- c.1282-22_1282-10del Single submitter maple syrup urine disease
- c.1282-23_1282-10del Single submitter maple syrup urine disease
- c.1282-24_1282-10del Single submitter maple syrup urine disease
- c.1282-25_1282-10del Single submitter maple syrup urine disease
- c.1282-26_1282-10del Single submitter maple syrup urine disease
- c.1282-4C>A Single submitter maple syrup urine disease
- c.1282-4C>T Single submitter maple syrup urine disease
- c.1282-7T>C Single submitter maple syrup urine disease
- c.1282-8A>G Single submitter maple syrup urine disease
- c.1282-9C>A Single submitter maple syrup urine disease
- c.1282-9dup Single submitter maple syrup urine disease
- c.175+10A>G Single submitter maple syrup urine disease
- c.175+16A>G Single submitter maple syrup urine disease
- c.175+312T>C Single submitter
- c.175+7A>T Single submitter maple syrup urine disease
- c.175+9G>A Single submitter maple syrup urine disease
- c.176-10del Single submitter maple syrup urine disease
- c.176-15C>A Single submitter maple syrup urine disease
- c.176-15C>G Single submitter maple syrup urine disease
- c.176-15C>T Single submitter maple syrup urine disease
- c.176-4G>A Single submitter maple syrup urine disease
- c.176-9T>A Single submitter maple syrup urine disease
- c.251+15A>G Single submitter maple syrup urine disease
- c.251+17A>G Single submitter maple syrup urine disease
- c.251+18A>G Single submitter maple syrup urine disease
- c.251+20G>A Single submitter maple syrup urine disease
- c.251+8A>T Single submitter maple syrup urine disease
- c.251+9A>G Single submitter maple syrup urine disease
- c.252-12T>G Single submitter maple syrup urine disease
- c.252-13C>G Single submitter
- c.252-7C>G Single submitter maple syrup urine disease
- c.252-8T>C Single submitter maple syrup urine disease
- c.433+10G>A Single submitter maple syrup urine disease
- c.433+10G>C Single submitter maple syrup urine disease
- c.433+13T>G Single submitter maple syrup urine disease
- c.433+17A>C Single submitter maple syrup urine disease
- c.433+7dup Single submitter maple syrup urine disease
- c.433+8A>G Single submitter maple syrup urine disease
- c.434-11C>T Single submitter maple syrup urine disease
- c.434-14T>C Single submitter maple syrup urine disease
- c.434-17T>G Single submitter maple syrup urine disease
- c.434-20_434-19del Single submitter maple syrup urine disease
- c.434-4C>T Single submitter maple syrup urine disease
- c.434-5A>C Single submitter maple syrup urine disease
- c.434-5A>T Single submitter maple syrup urine disease
- c.51+11T>C Single submitter maple syrup urine disease
- c.51+12T>C Single submitter maple syrup urine disease
- c.51+13_51+14insT Single submitter maple syrup urine disease
- c.51+14G>C Single submitter maple syrup urine disease
- c.51+15G>A Single submitter maple syrup urine disease
- c.51+185A>G Single submitter
- c.51+18G>C Single submitter maple syrup urine disease
- c.51+18G>T Single submitter maple syrup urine disease
- c.51+202G>C Single submitter
- c.51+7A>G Single submitter maple syrup urine disease
- c.52-10T>G Single submitter maple syrup urine disease
- c.52-18T>G Single submitter maple syrup urine disease
- c.52-4G>A Single submitter maple syrup urine disease
- c.52-5del Single submitter maple syrup urine disease
- c.52-5T>C Single submitter maple syrup urine disease
- c.52-6del Single submitter maple syrup urine disease
- c.52-9C>T Single submitter maple syrup urine disease
- c.555+14A>G Single submitter maple syrup urine disease
- c.555+18T>A Single submitter maple syrup urine disease
- c.555+8C>A Single submitter maple syrup urine disease
- c.555+8C>T Single submitter maple syrup urine disease
- c.555+96A>G Single submitter
- c.556-12A>G Single submitter maple syrup urine disease
- c.556-14A>G Single submitter maple syrup urine disease
- c.556-5T>C Single submitter maple syrup urine disease
- c.772+11T>C Single submitter maple syrup urine disease
- c.772+16A>G Single submitter maple syrup urine disease
- c.772+17_772+19del Single submitter maple syrup urine disease
- c.772+17C>G Single submitter maple syrup urine disease
- c.772+19A>G Single submitter maple syrup urine disease
- c.772+20T>C Single submitter maple syrup urine disease
- c.772+7A>G Single submitter maple syrup urine disease
- c.772+7A>T Single submitter maple syrup urine disease
- c.772+8T>C Single submitter maple syrup urine disease
- c.772+8T>G Single submitter maple syrup urine disease
- c.772+8TAA[2] Single submitter maple syrup urine disease
- c.772+9A>G Single submitter maple syrup urine disease
- c.773-14T>G Single submitter maple syrup urine disease
- c.773-17A>C Single submitter maple syrup urine disease
- c.773-20A>G Single submitter maple syrup urine disease
- c.773-4T>C Single submitter maple syrup urine disease
- c.939+10A>G Single submitter maple syrup urine disease
- c.939+13C>G Single submitter maple syrup urine disease
- c.939+20A>G Single submitter maple syrup urine disease
- c.939+7T>C Single submitter maple syrup urine disease
- c.939+9C>T Single submitter maple syrup urine disease
- c.940-10T>C Single submitter maple syrup urine disease
- c.940-17C>A Single submitter maple syrup urine disease
- c.940-18T>G Single submitter maple syrup urine disease
- c.940-4A>C Single submitter maple syrup urine disease
- c.940-5A>C Single submitter maple syrup urine disease
- c.940-7del Single submitter maple syrup urine disease
- c.940-7T>C Single submitter maple syrup urine disease
- c.940-9G>T Single submitter maple syrup urine disease
- c.*1916dup Single submitter
- c.*2619G>A Single submitter maple syrup urine disease
- c.*389A>G Single submitter
- c.*4273C>A Single submitter maple syrup urine disease
- c.*5969C>T Single submitter maple syrup urine disease
- c.*6716C>G Single submitter maple syrup urine disease
- c.*6902_*6903del Single submitter
- c.*7307G>C Single submitter maple syrup urine disease
- c.*7698C>T Single submitter maple syrup urine disease
- c.*8554del Single submitter
- c.*8607G>A Single submitter maple syrup urine disease
- p.Ala106= Single submitter maple syrup urine disease
- p.Ala129= Single submitter maple syrup urine disease
- p.Ala14= Single submitter maple syrup urine disease
- p.Ala155= Single submitter maple syrup urine disease
- p.Ala176= Single submitter maple syrup urine disease
- p.Ala2= Single submitter maple syrup urine disease
- p.Ala215= Single submitter maple syrup urine disease
- p.Ala298= Single submitter maple syrup urine disease
- p.Ala3= Single submitter maple syrup urine disease
- p.Ala315= Single submitter maple syrup urine disease
- p.Ala409= Single submitter maple syrup urine disease
- p.Ala450= Single submitter maple syrup urine disease
- p.Arg12= Single submitter maple syrup urine disease
- p.Arg179= Single submitter maple syrup urine disease
- p.Arg21= Single submitter maple syrup urine disease
- p.Arg301= Single submitter maple syrup urine disease
- p.Arg5= Single submitter maple syrup urine disease
- p.Arg77= Single submitter maple syrup urine disease
- p.Asn13= Single submitter maple syrup urine disease
- p.Asn28= Single submitter maple syrup urine disease
- p.Asn400= Single submitter maple syrup urine disease
- p.Asn473= Single submitter maple syrup urine disease
- p.Asp126= Single submitter maple syrup urine disease
- p.Asp234= Single submitter maple syrup urine disease
- p.Asp283= Single submitter maple syrup urine disease
- p.Asp330= Single submitter maple syrup urine disease
- p.Asp369= Single submitter maple syrup urine disease
- p.Asp90= Single submitter maple syrup urine disease
- p.Asp96= Single submitter maple syrup urine disease
- p.Cys279= Single submitter maple syrup urine disease
- p.Gln321= Single submitter maple syrup urine disease
- p.Gln352= Single submitter maple syrup urine disease
- p.Gln363= Single submitter maple syrup urine disease
- p.Gln94= Single submitter maple syrup urine disease
- p.Glu100= Single submitter maple syrup urine disease
- p.Glu160= Single submitter maple syrup urine disease
- p.Glu165= Single submitter maple syrup urine disease
- p.Glu183= Single submitter maple syrup urine disease
- p.Glu210= Single submitter maple syrup urine disease
- p.Glu292= Single submitter maple syrup urine disease
- p.Glu351Gln Single submitter maple syrup urine disease ⚠
- p.Glu88= Single submitter maple syrup urine disease
- p.Gly193= Single submitter maple syrup urine disease
- p.Gly214= Single submitter maple syrup urine disease
- p.Gly249= Single submitter maple syrup urine disease
- p.Gly277= Single submitter maple syrup urine disease
- p.Gly405= Single submitter maple syrup urine disease
- p.Gly41= Single submitter maple syrup urine disease
- p.Gly457= Single submitter maple syrup urine disease
- p.Gly75= Single submitter maple syrup urine disease
- p.His158= Single submitter maple syrup urine disease
- p.His161= Single submitter maple syrup urine disease
- p.His30= Single submitter maple syrup urine disease
- p.Ile128= Single submitter maple syrup urine disease
- p.Ile18= Single submitter maple syrup urine disease
- p.Ile297= Single submitter maple syrup urine disease
- p.Ile344= Single submitter maple syrup urine disease
- p.Ile355= Single submitter maple syrup urine disease
- p.Ile370= Single submitter maple syrup urine disease
- p.Ile404= Single submitter maple syrup urine disease
- p.Ile420= Single submitter maple syrup urine disease
- p.Ile76= Single submitter maple syrup urine disease
- p.Leu143= Single submitter maple syrup urine disease
- p.Leu172= Single submitter maple syrup urine disease
- p.Leu188= Single submitter maple syrup urine disease
- p.Leu240Pro Single submitter Inborn genetic diseases
- p.Leu271= Single submitter maple syrup urine disease
- p.Leu287= Single submitter maple syrup urine disease
- p.Leu290= Single submitter maple syrup urine disease
- p.Leu305= Single submitter maple syrup urine disease
- p.Leu312= Single submitter maple syrup urine disease
- p.Leu32= Single submitter maple syrup urine disease
- p.Leu320= Single submitter maple syrup urine disease
- p.Leu377= Single submitter maple syrup urine disease
- p.Leu380= Single submitter maple syrup urine disease
- p.Leu386= Single submitter maple syrup urine disease
- p.Leu391= Single submitter maple syrup urine disease
- p.Leu423= Single submitter maple syrup urine disease
- p.Leu466= Single submitter maple syrup urine disease
- p.Leu481= Single submitter maple syrup urine disease
- p.Leu69= Single submitter maple syrup urine disease
- p.Leu7= Single submitter
- p.Lys167= Single submitter maple syrup urine disease
- p.Lys170= Single submitter maple syrup urine disease
- p.Lys222= Single submitter maple syrup urine disease
- p.Lys33= Single submitter maple syrup urine disease
- p.Lys440= Single submitter maple syrup urine disease
- p.Lys46= Single submitter maple syrup urine disease
- p.Lys82= Single submitter maple syrup urine disease
- p.Met267Leu Single submitter maple syrup urine disease
- p.Phe247= Single submitter maple syrup urine disease
- p.Phe299= Single submitter maple syrup urine disease
- p.Phe311= Single submitter maple syrup urine disease
- p.Phe40= Single submitter maple syrup urine disease
- p.Phe53= Single submitter maple syrup urine disease
- p.Pro221= Single submitter maple syrup urine disease
- p.Pro232= Single submitter maple syrup urine disease
- p.Pro238= Single submitter maple syrup urine disease
- p.Pro245= Single submitter maple syrup urine disease
- p.Pro255= Single submitter maple syrup urine disease
- p.Pro415= Single submitter maple syrup urine disease
- p.Pro416= Single submitter maple syrup urine disease
- p.Pro43= Single submitter maple syrup urine disease
- p.Ser107= Single submitter maple syrup urine disease
- p.Ser112= Single submitter maple syrup urine disease
- p.Ser268= Single submitter maple syrup urine disease
- p.Ser366= Single submitter maple syrup urine disease
- p.Ser384= Single submitter maple syrup urine disease
- p.Ser425= Single submitter maple syrup urine disease
- p.Ser449= Single submitter maple syrup urine disease
- p.Ser461= Single submitter maple syrup urine disease
- p.Ser464= Single submitter maple syrup urine disease
- p.Ser469= Single submitter maple syrup urine disease
- p.Thr111= Single submitter maple syrup urine disease
- p.Thr140= Single submitter maple syrup urine disease
- p.Thr248= Single submitter maple syrup urine disease
- p.Thr25= Single submitter maple syrup urine disease
- p.Thr285= Single submitter maple syrup urine disease
- p.Thr372= Single submitter maple syrup urine disease
- p.Thr395= Single submitter maple syrup urine disease
- p.Thr397= Single submitter maple syrup urine disease
- p.Thr407= Single submitter maple syrup urine disease
- p.Thr9= Single submitter maple syrup urine disease
- p.Thr91= Single submitter maple syrup urine disease
- p.Tyr114= Single submitter maple syrup urine disease
Uncertain significance 222
- c.1210-3T>A Multiple submitters maple syrup urine disease type 1A
- c.1281+5A>G Multiple submitters Inborn genetic diseases
- c.433+6G>A Multiple submitters maple syrup urine disease
- c.*4124C>A Multiple submitters maple syrup urine disease
- c.*6902T>A Multiple submitters maple syrup urine disease
- p.Ala2Thr Multiple submitters maple syrup urine disease ⚠
- p.Ala300Val Multiple submitters maple syrup urine disease ⚠
- p.Ala371Thr Multiple submitters maple syrup urine disease ⚠
- p.Ala450Thr Multiple submitters maple syrup urine disease ⚠
- p.Arg12Ser Multiple submitters maple syrup urine disease ⚠
- p.Arg21Cys Multiple submitters maple syrup urine disease ⚠
- p.Arg376His Multiple submitters maple syrup urine disease ⚠
- p.Arg61Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn28dup Multiple submitters maple syrup urine disease
- p.Asn465Ser Multiple submitters maple syrup urine disease ⚠
- p.Cys279Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gly193Ser Multiple submitters maple syrup urine disease ⚠
- p.Gly406Val Multiple submitters maple syrup urine disease ⚠
- p.Gly421Trp Multiple submitters maple syrup urine disease ⚠
- p.His342Asp Multiple submitters ⚠
- p.His342Tyr Multiple submitters ⚠
- p.Ile138Thr Multiple submitters maple syrup urine disease ⚠
- p.Ile225Leu Multiple submitters maple syrup urine disease ⚠
- p.Ile98Val Multiple submitters maple syrup urine disease ⚠
- p.Lys46Arg Multiple submitters maple syrup urine disease type 2 ⚠
- p.Met263Val Multiple submitters maple syrup urine disease ⚠
- p.Thr171Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr407Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr57del Multiple submitters maple syrup urine disease
- p.Val151del Multiple submitters maple syrup urine disease
- p.Val151Ile Multiple submitters maple syrup urine disease ⚠
- p.Val191Gly Multiple submitters maple syrup urine disease ⚠
- p.Val29Ala Multiple submitters maple syrup urine disease ⚠
- c.1281+3A>G Single submitter maple syrup urine disease type 2
- c.1281+4C>G Single submitter
- c.1282-11_1282-5del Single submitter
- c.51+5G>C Single submitter
- c.52-27T>A Single submitter
- c.-40T>A Single submitter maple syrup urine disease
- c.*1322C>T Single submitter maple syrup urine disease
- c.*1332T>C Single submitter maple syrup urine disease
- c.*1572A>G Single submitter maple syrup urine disease
- c.*1640C>T Single submitter maple syrup urine disease
- c.*1747A>G Single submitter maple syrup urine disease
- c.*1917C>A Single submitter maple syrup urine disease
- c.*2021C>T Single submitter maple syrup urine disease
- c.*2074A>C Single submitter maple syrup urine disease
- c.*2088A>T Single submitter maple syrup urine disease
- c.*2092A>T Single submitter maple syrup urine disease
- c.*2119G>A Single submitter maple syrup urine disease
- c.*2130G>A Single submitter maple syrup urine disease
- c.*2213T>C Single submitter maple syrup urine disease
- c.*2271A>C Single submitter maple syrup urine disease
- c.*2363G>T Single submitter maple syrup urine disease
- c.*2822T>G Single submitter maple syrup urine disease
- c.*2851C>T Single submitter maple syrup urine disease
- c.*293C>T Single submitter maple syrup urine disease
- c.*295G>A Single submitter maple syrup urine disease
- c.*3022G>A Single submitter maple syrup urine disease
- c.*3027A>G Single submitter maple syrup urine disease
- c.*3135G>A Single submitter maple syrup urine disease
- c.*3187C>G Single submitter maple syrup urine disease
- c.*3201G>A Single submitter maple syrup urine disease
- c.*3240T>A Single submitter maple syrup urine disease
- c.*3245G>A Single submitter maple syrup urine disease
- c.*3455C>T Single submitter maple syrup urine disease
- c.*3461A>G Single submitter maple syrup urine disease
- c.*347C>T Single submitter maple syrup urine disease
- c.*3521G>A Single submitter maple syrup urine disease
- c.*3586A>G Single submitter maple syrup urine disease
- c.*3652G>C Single submitter maple syrup urine disease
- c.*3693C>G Single submitter maple syrup urine disease
- c.*3789A>C Single submitter maple syrup urine disease
- c.*3859T>C Single submitter maple syrup urine disease
- c.*3995G>T Single submitter maple syrup urine disease
- c.*4237A>C Single submitter maple syrup urine disease
- c.*4250C>T Single submitter maple syrup urine disease
- c.*4291C>A Single submitter maple syrup urine disease
- c.*4313G>A Single submitter maple syrup urine disease
- c.*4321G>T Single submitter maple syrup urine disease
- c.*4377C>G Single submitter maple syrup urine disease
- c.*4425C>A Single submitter maple syrup urine disease
- c.*4446C>G Single submitter maple syrup urine disease
- c.*4507T>C Single submitter maple syrup urine disease
- c.*456C>G Single submitter maple syrup urine disease
- c.*4576G>A Single submitter maple syrup urine disease
- c.*4576G>C Single submitter maple syrup urine disease
- c.*4688G>T Single submitter maple syrup urine disease
- c.*4864C>T Single submitter maple syrup urine disease
- c.*488G>A Single submitter maple syrup urine disease
- c.*5328C>G Single submitter maple syrup urine disease
- c.*5380G>C Single submitter maple syrup urine disease
- c.*551C>T Single submitter maple syrup urine disease
- c.*5561A>G Single submitter maple syrup urine disease
- c.*5591T>C Single submitter maple syrup urine disease
- c.*5784T>C Single submitter maple syrup urine disease
- c.*5875T>G Single submitter maple syrup urine disease
- c.*5877G>C Single submitter maple syrup urine disease
- c.*5959A>G Single submitter maple syrup urine disease
- c.*6270A>G Single submitter maple syrup urine disease
- c.*635C>T Single submitter maple syrup urine disease
- c.*6413C>T Single submitter maple syrup urine disease
- c.*642T>C Single submitter maple syrup urine disease
- c.*64A>G Single submitter maple syrup urine disease
- c.*6771A>C Single submitter maple syrup urine disease
- c.*6771A>G Single submitter maple syrup urine disease
- c.*6901T>A Single submitter maple syrup urine disease
- c.*7187G>A Single submitter maple syrup urine disease
- c.*7223C>T Single submitter maple syrup urine disease
- c.*722C>T Single submitter maple syrup urine disease
- c.*7369G>A Single submitter maple syrup urine disease
- c.*7469T>C Single submitter maple syrup urine disease
- c.*7690T>C Single submitter maple syrup urine disease
- c.*7942G>A Single submitter maple syrup urine disease
- c.*8073C>T Single submitter maple syrup urine disease
- c.*8074G>A Single submitter maple syrup urine disease
- c.*8080C>G Single submitter maple syrup urine disease
- c.*8083C>T Single submitter maple syrup urine disease
- c.*8118T>C Single submitter maple syrup urine disease
- c.*8226G>T Single submitter maple syrup urine disease
- c.*8275A>G Single submitter maple syrup urine disease
- c.*8385A>C Single submitter maple syrup urine disease
- c.*8471T>C Single submitter maple syrup urine disease
- c.*8642C>G Single submitter maple syrup urine disease
- c.*8663T>C Single submitter maple syrup urine disease
- c.*8670A>G Single submitter maple syrup urine disease
- c.*8734A>C Single submitter maple syrup urine disease
- c.*8830T>C Single submitter maple syrup urine disease
- c.*8900A>T Single submitter maple syrup urine disease
- c.*9058C>T Single submitter maple syrup urine disease
- c.*9105A>G Single submitter maple syrup urine disease
- c.*9123A>G Single submitter maple syrup urine disease
- c.*918G>T Single submitter maple syrup urine disease
- c.*9228C>T Single submitter maple syrup urine disease
- c.*9230T>C Single submitter maple syrup urine disease
- p.Ala314Ser Single submitter maple syrup urine disease ⚠
- p.Ala327Thr Single submitter maple syrup urine disease ⚠
- p.Ala422Thr Single submitter maple syrup urine disease ⚠
- p.Ala428Val Single submitter maple syrup urine disease ⚠
- p.Ala458Ser Single submitter maple syrup urine disease ⚠
- p.Ala458Val Single submitter Inborn genetic diseases ⚠
- p.Arg12Gly Single submitter maple syrup urine disease ⚠
- p.Arg178Cys Single submitter maple syrup urine disease type 2 ⚠
- p.Arg178His Single submitter maple syrup urine disease ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg199Gly Single submitter maple syrup urine disease ⚠
- p.Arg462His Single submitter maple syrup urine disease ⚠
- p.Arg5His Single submitter maple syrup urine disease ⚠
- p.Arg77Lys Single submitter maple syrup urine disease ⚠
- p.Asn326Lys Single submitter maple syrup urine disease ⚠
- p.Asn332Ser Single submitter maple syrup urine disease ⚠
- p.Asp127His Single submitter Inborn genetic diseases ⚠
- p.Asp159Asn Single submitter maple syrup urine disease ⚠
- p.Asp204Tyr Single submitter maple syrup urine disease ⚠
- p.Asp390Glu Single submitter maple syrup urine disease ⚠
- p.Asp390His Single submitter Inborn genetic diseases ⚠
- p.Asp451His Single submitter maple syrup urine disease ⚠
- p.Asp456Asn Single submitter Inborn genetic diseases ⚠
- p.Asp456Gly Single submitter Inborn genetic diseases ⚠
- p.Cys365Ser Single submitter Inborn genetic diseases ⚠
- p.Cys38Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln321His Single submitter maple syrup urine disease ⚠
- p.Gln321Leu Single submitter maple syrup urine disease ⚠
- p.Gln334His Single submitter maple syrup urine disease ⚠
- p.Gln378Arg Single submitter ⚠
- p.Gln378Pro Single submitter ⚠
- p.Glu160Ala Single submitter maple syrup urine disease ⚠
- p.Glu331Lys Single submitter maple syrup urine disease ⚠
- p.Glu417= Single submitter maple syrup urine disease
- p.Glu417Lys Single submitter maple syrup urine disease type 2 ⚠
- p.Gly15= Single submitter maple syrup urine disease
- p.Gly214Glu Single submitter Inborn genetic diseases ⚠
- p.Gly405Arg Single submitter maple syrup urine disease ⚠
- p.Ile200Thr Single submitter maple syrup urine disease ⚠
- p.Ile205del Single submitter maple syrup urine disease
- p.Ile239Leu Single submitter maple syrup urine disease ⚠
- p.Ile346Val Single submitter maple syrup urine disease ⚠
- p.Ile404Met Single submitter maple syrup urine disease ⚠
- p.Ile420Val Single submitter ⚠
- p.Ile426Val Single submitter maple syrup urine disease ⚠
- p.Ile429Ser Single submitter Inborn genetic diseases ⚠
- p.Ile455Thr Single submitter maple syrup urine disease ⚠
- p.Ile72Thr Single submitter maple syrup urine disease ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu180Val Single submitter maple syrup urine disease ⚠
- p.Leu240delinsLysProPro Single submitter
- p.Leu284Phe Single submitter Inborn genetic diseases ⚠
- p.Leu305Phe Single submitter maple syrup urine disease ⚠
- p.Leu354Ser Single submitter maple syrup urine disease ⚠
- p.Leu391Phe Single submitter maple syrup urine disease ⚠
- p.Leu398Phe Single submitter ⚠
- p.Leu69Arg Single submitter ⚠
- p.Lys133Met Single submitter maple syrup urine disease ⚠
- p.Lys167Thr Single submitter maple syrup urine disease type 1A ⚠
- p.Lys211Glu Single submitter Inborn genetic diseases ⚠
- p.Lys261Glu Single submitter maple syrup urine disease ⚠
- p.Lys272Arg Single submitter maple syrup urine disease ⚠
- p.Lys295Arg Single submitter maple syrup urine disease ⚠
- p.Lys295Gln Single submitter maple syrup urine disease ⚠
- p.Lys295Thr Single submitter Inborn genetic diseases ⚠
- p.Lys313= Single submitter
- p.Lys410Asn Single submitter maple syrup urine disease ⚠
- p.Met226Val Single submitter maple syrup urine disease ⚠
- p.Met263Ile Single submitter ⚠
- p.Phe311Ser Single submitter maple syrup urine disease ⚠
- p.Pro245Leu Single submitter Inborn genetic diseases ⚠
- p.Pro323_Leu325dup Single submitter maple syrup urine disease
- p.Pro474Thr Single submitter maple syrup urine disease ⚠
- p.Ser366Pro Single submitter ⚠
- p.Ser70Leu Single submitter ⚠
- p.Thr285Pro Single submitter maple syrup urine disease ⚠
- p.Thr395Arg Single submitter Inborn genetic diseases ⚠
- p.Thr397Ile Single submitter maple syrup urine disease type 2 ⚠
- p.Thr459Ala Single submitter maple syrup urine disease ⚠
- p.Tyr122His Single submitter Inborn genetic diseases ⚠
- p.Val131Met Single submitter maple syrup urine disease ⚠
- p.Val223Gly Single submitter maple syrup urine disease ⚠
- p.Val223Ile Single submitter maple syrup urine disease ⚠
- p.Val237Leu Single submitter maple syrup urine disease ⚠
- c.*358A>C No assertion criteria maple syrup urine disease type 1A
- p.Glu148del No assertion criteria maple syrup urine disease type 1A
- p.Tyr123_Asn124del No assertion criteria maple syrup urine disease