BCKDHA — 765 ClinVar variants
All ClinVar germline BCKDHA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →
49 Pathogenic · 51 Pathogenic/Likely pathogenic · 72 Likely pathogenic · 48 Conflicting · 28 Benign · 16 Benign/Likely benign · 330 Likely benign · 171 Uncertain significance
Full BCKDHA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 166
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BCKDHA p.Leu427Val
Likely pathogenic
Single submitter
maple syrup urine disease type 1A
Predictors agree, ClinVar conflicts 24
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BCKDHA p.Ala248Val
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Ala254Asp
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Ala418Thr
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg127Trp
Conflicting
Single submitter
Inborn genetic diseases
-
BCKDHA p.Arg12Pro
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg189Cys
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg265Trp
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Arg287Gly
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg297Cys
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Arg346Cys
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Arg429His
Conflicting
Single submitter
Inborn genetic diseases
-
BCKDHA p.Asn267Ser
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Asp116Gly
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Asp302Glu
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Cys264Trp
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Gln357Arg
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Gln42Arg
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Gln53His
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Glu238Lys
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Glu327Asp
Conflicting
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Gly162Asp
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.His247Arg
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Pro259Leu
Conflicting
Single submitter
maple syrup urine disease
- BCKDHA p.Tyr279Cys Conflicting Single submitter
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BCKDHA p.Arg124Pro
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Arg200Cys
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Arg315Gln
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Arg316Trp
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Arg365Trp
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Arg399Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Asn150Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Asn352Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Gln87His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Gly196Ser
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Gly237Ser
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Gly281Val
Uncertain significance
Multiple submitters
BCKDHA-related disorder
-
BCKDHA p.Ile68Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Phe263Leu
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Pro170Ser
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Pro95Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Thr133Ala
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Val203Ile
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Val81Ile
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Ala147Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ala20Val
Uncertain significance
Single submitter
maple syrup urine disease
- BCKDHA p.Ala21Val Uncertain significance Single submitter
-
BCKDHA p.Ala226Val
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Ala6Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ala8Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Arg12Gln
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg280Cys
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg316Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Arg387His
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg421His
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg80His
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg84Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Asn150Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Asn229Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Asn71Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Asp152Glu
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Asp168Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Asp358Gly
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Asp444Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Asp50His
Uncertain significance
Single submitter
maple syrup urine disease
- BCKDHA p.Cys258Arg Uncertain significance Single submitter
-
BCKDHA p.Cys258Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Gln19His
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Gln19Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDHA p.Gln41Arg Uncertain significance Single submitter
-
BCKDHA p.Glu312Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Gly16Asp
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Gly244Val
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Gly281Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.His141Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.His359Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.His37Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.His430Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ile5Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ile68Val
Uncertain significance
Single submitter
maple syrup urine disease
- BCKDHA p.Leu112Pro Uncertain significance Single submitter
-
BCKDHA p.Leu209Pro
Uncertain significance
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Leu325Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Leu48Pro
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Met294Ile
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Pro208Leu
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Pro28Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Pro323Arg
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Pro323His
Uncertain significance
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Pro360Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Pro38Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Pro91Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Pro98Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ser108Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ser337Arg
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Ser58Leu
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Thr255Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDHA p.Thr273Ala Uncertain significance Single submitter
-
BCKDHA p.Tyr106Cys
Uncertain significance
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Tyr120Cys
Uncertain significance
Single submitter
maple syrup urine disease
- BCKDHA p.Tyr131Cys Uncertain significance Single submitter
-
BCKDHA p.Tyr169His
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Tyr307His
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Tyr367Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Val10Phe
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Val142Met
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Val231Phe
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Val298Met
Uncertain significance
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Val72Ile
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Asn90Ser
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Gly143Glu
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Gly196Arg
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Ile233Val
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Leu22Val
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Met191Ile
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Met294Leu
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Phe409Val
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Pro214Leu
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Ser47Pro
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Val231Ile
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
Predictors split 46
The independent predictors disagree with each other — read with care.
-
BCKDHA p.Ala146Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Ala219Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Ala222Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Ala317Ser
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Ala397Thr
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Arg167Trp
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Arg399Trp
Uncertain significance
Multiple submitters
maple syrup urine disease type 1A
-
BCKDHA p.Glu398Lys
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Ile326Met
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Met82Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Phe304Leu
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Ser426Phe
Uncertain significance
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Tyr413Cys
Likely pathogenic
Multiple submitters
maple syrup urine disease
-
BCKDHA p.Val412Met
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
BCKDHA p.Ala246Thr
Likely benign
Single submitter
maple syrup urine disease
-
BCKDHA p.Ala253Gly
Likely pathogenic
Single submitter
maple syrup urine disease
-
BCKDHA p.Ala285Ser
Likely pathogenic
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Ala286Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ala309Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Ala309Thr
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg225Trp
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg315Trp
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg316Gln
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg365Gln
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Arg421Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Arg429Cys
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Asn308Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Asp358Glu
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Gln432His
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ile326Val
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Ile361Val
Conflicting
Single submitter
maple syrup urine disease
-
BCKDHA p.Leu440Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Lys101Asn
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Phe394Leu
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Phe443Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Phe45Leu
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Pro52Ser
Uncertain significance
Single submitter
maple syrup urine disease type 1A
-
BCKDHA p.Pro70Ser
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Pro98Leu
Conflicting
Single submitter
Inborn genetic diseases
-
BCKDHA p.Ser347Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDHA p.Tyr166Phe
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Val232Ile
Uncertain significance
Single submitter
maple syrup urine disease
-
BCKDHA p.Ala210Ser
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Ala309Val
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Arg167Gln
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
-
BCKDHA p.Glu172Gly
Uncertain significance
No assertion criteria
maple syrup urine disease type 1A
All BCKDHA variants
Pathogenic 49
- c.288+1G>A Multiple submitters maple syrup urine disease type 1A
- c.854-2A>G Multiple submitters maple syrup urine disease
- p.Ala240fs Multiple submitters maple syrup urine disease
- p.Ala248fs Multiple submitters maple syrup urine disease
- p.Ala253Thr Multiple submitters maple syrup urine disease
- p.Ala285Pro Multiple submitters BCKDHA-related disorder
- p.Arg287Ter Multiple submitters maple syrup urine disease type 1A
- p.Arg314Ter Multiple submitters maple syrup urine disease type 1A
- p.Asp302Ala Multiple submitters maple syrup urine disease type 1A
- p.Gln177Ter Multiple submitters maple syrup urine disease type 1A
- p.Gln322Ter Multiple submitters maple syrup urine disease
- p.Gln357Ter Multiple submitters maple syrup urine disease type 1A
- p.Gln43Ter Multiple submitters maple syrup urine disease
- p.Gly288fs Multiple submitters BCKDHA-related disorder
- p.His437fs Multiple submitters maple syrup urine disease type 1A
- p.Leu48fs Multiple submitters maple syrup urine disease
- p.Tyr221fs Multiple submitters maple syrup urine disease
- c.288+1G>T Single submitter maple syrup urine disease type 1A
- p.Ala161fs Single submitter maple syrup urine disease
- p.Ala220fs Single submitter maple syrup urine disease
- p.Asn14fs Single submitter maple syrup urine disease
- p.Asp282His Single submitter maple syrup urine disease
- p.Cys234fs Single submitter maple syrup urine disease
- p.Gln157Pro Single submitter maple syrup urine disease
- p.Gln190Ter Single submitter Inborn genetic diseases
- p.Gln19Ter Single submitter maple syrup urine disease
- p.Gln215fs Single submitter maple syrup urine disease
- p.Gln27fs Single submitter maple syrup urine disease type 1A
- p.Gln371fs Single submitter maple syrup urine disease
- p.Gln42Ter Single submitter maple syrup urine disease
- p.Gln44Ter Single submitter maple syrup urine disease
- p.Glu93Ter Single submitter maple syrup urine disease
- p.Gly139fs Single submitter maple syrup urine disease
- p.Ile233fs Single submitter maple syrup urine disease
- p.Ile5fs Single submitter maple syrup urine disease
- p.Leu111Pro Single submitter maple syrup urine disease
- p.Leu119_Tyr120insTer Single submitter maple syrup urine disease
- p.Leu185fs Single submitter maple syrup urine disease
- p.Lys107Ter Single submitter maple syrup urine disease
- p.Lys380fs Single submitter maple syrup urine disease
- p.Pro259His Single submitter maple syrup urine disease
- p.Ser295Ter Single submitter maple syrup urine disease
- p.Ser343Ter Single submitter maple syrup urine disease
- p.Ser92fs Single submitter maple syrup urine disease
- p.Trp11Ter Single submitter maple syrup urine disease
- p.Tyr235fs Single submitter maple syrup urine disease type 1A
- p.Tyr434Ter Single submitter
- p.Tyr438Ter Single submitter
- p.Asn134fs No assertion criteria maple syrup urine disease
Pathogenic/Likely pathogenic 51
- c.109-1G>A Multiple submitters maple syrup urine disease
- c.1167+1del Multiple submitters maple syrup urine disease
- c.1168-2A>G Multiple submitters maple syrup urine disease type 1A
- c.288+9C>T Multiple submitters maple syrup urine disease type 1A
- c.647-1G>C Multiple submitters maple syrup urine disease type 1A
- c.995+1G>A Multiple submitters maple syrup urine disease
- p.Ala216Val Multiple submitters maple syrup urine disease type 1A
- p.Ala219fs Multiple submitters maple syrup urine disease
- p.Ala220_Tyr221insTer Multiple submitters maple syrup urine disease
- p.Ala220Val Multiple submitters maple syrup urine disease
- p.Arg124Trp Multiple submitters maple syrup urine disease type 1A
- p.Arg159Gln Multiple submitters maple syrup urine disease type 1A
- p.Arg159Trp Multiple submitters maple syrup urine disease type 1A
- p.Arg265Gln Multiple submitters maple syrup urine disease
- p.Arg265Pro Multiple submitters maple syrup urine disease type 1A
- p.Arg297His Multiple submitters maple syrup urine disease type 1A
- p.Arg346His Multiple submitters maple syrup urine disease type 1A
- p.Arg363Trp Multiple submitters maple syrup urine disease
- p.Arg40fs Multiple submitters maple syrup urine disease
- p.Asp152Asn Multiple submitters maple syrup urine disease type 1A
- p.Cys258Ter Multiple submitters maple syrup urine disease type 1A
- p.Gln123Ter Multiple submitters maple syrup urine disease
- p.Gln85Ter Multiple submitters maple syrup urine disease
- p.Glu238Ter Multiple submitters maple syrup urine disease
- p.Glu327Lys Multiple submitters maple syrup urine disease type 1A
- p.Glu436Ter Multiple submitters maple syrup urine disease
- p.Gly143fs Multiple submitters maple syrup urine disease
- p.Gly218Ala Multiple submitters maple syrup urine disease type 1A
- p.Gly290Arg Multiple submitters maple syrup urine disease type 1A
- p.His336fs Multiple submitters maple syrup urine disease type 1A
- p.Leu103Pro Multiple submitters maple syrup urine disease type 1A
- p.Leu171fs Multiple submitters maple syrup urine disease
- p.Leu23fs Multiple submitters maple syrup urine disease type 1A
- p.Leu427_Ala428delinsPro Multiple submitters maple syrup urine disease
- p.Lys400Ter Multiple submitters maple syrup urine disease type 1A
- p.Phe409Cys Multiple submitters maple syrup urine disease
- p.Pro55fs Multiple submitters maple syrup urine disease type 1A
- p.Ser46Ter Multiple submitters maple syrup urine disease type 1A
- p.Thr211Met Multiple submitters maple syrup urine disease type 1A
- p.Thr310Arg Multiple submitters BCKDHA-related disorder
- p.Trp354Ter Multiple submitters maple syrup urine disease
- p.Trp373Ter Multiple submitters maple syrup urine disease
- p.Trp374Ter Multiple submitters maple syrup urine disease
- p.Tyr135fs Multiple submitters maple syrup urine disease
- p.Tyr169Ter Multiple submitters maple syrup urine disease
- p.Tyr279fs Multiple submitters maple syrup urine disease
- p.Tyr413fs Multiple submitters maple syrup urine disease
- p.Tyr438Asn Multiple submitters Inborn genetic diseases
- p.Tyr438His Multiple submitters maple syrup urine disease
- p.Val231fs Multiple submitters maple syrup urine disease type 1A
- p.Val412Met Multiple submitters Inborn genetic diseases ⚠
Likely pathogenic 72
- c.1168-1G>A Multiple submitters maple syrup urine disease
- c.376-2A>G Multiple submitters maple syrup urine disease
- c.853+2T>C Multiple submitters maple syrup urine disease
- c.996-1G>A Multiple submitters maple syrup urine disease type 1A
- c.996-2A>G Multiple submitters maple syrup urine disease
- p.Ala270Thr Multiple submitters maple syrup urine disease
- p.Ala418fs Multiple submitters maple syrup urine disease
- p.Arg117Cys Multiple submitters maple syrup urine disease
- p.Gln419Ter Multiple submitters maple syrup urine disease
- p.Glu66Ter Multiple submitters maple syrup urine disease
- p.Gly249Ser Multiple submitters maple syrup urine disease type 1A
- p.Tyr413Cys Multiple submitters maple syrup urine disease ⚠
- c.108+5G>C Single submitter maple syrup urine disease
- c.1167+1G>C Single submitter maple syrup urine disease
- c.375+1G>A Single submitter maple syrup urine disease
- c.375+2T>G Single submitter maple syrup urine disease
- c.376-1G>A Single submitter maple syrup urine disease
- c.376-2A>C Single submitter maple syrup urine disease type 1A
- c.484+1G>A Single submitter maple syrup urine disease
- c.646+1G>C Single submitter maple syrup urine disease type 1A
- c.853+1G>C Single submitter maple syrup urine disease
- c.995+2T>C Single submitter maple syrup urine disease
- p.Ala253Gly Single submitter maple syrup urine disease ⚠
- p.Ala285Ser Single submitter maple syrup urine disease type 1A ⚠
- p.Ala319fs Single submitter maple syrup urine disease
- p.Ala393_Phe394insTer Single submitter maple syrup urine disease
- p.Arg124Gln Single submitter maple syrup urine disease
- p.Arg189fs Single submitter maple syrup urine disease
- p.Arg189His Single submitter maple syrup urine disease
- p.Arg225fs Single submitter maple syrup urine disease type 1A
- p.Arg287Gln Single submitter maple syrup urine disease
- p.Asn266fs Single submitter maple syrup urine disease
- p.Asp245delinsGlySerGlnTer Single submitter maple syrup urine disease type 1A
- p.Asp302Asn Single submitter maple syrup urine disease
- p.Asp302Gly Single submitter maple syrup urine disease
- p.Gln157Ter Single submitter maple syrup urine disease
- p.Gln424Ter Single submitter maple syrup urine disease type 1A
- p.Glu398Ter Single submitter maple syrup urine disease type 1A
- p.Gly156Asp Single submitter
- p.Gly162Ser Single submitter maple syrup urine disease
- p.Gly188Trp Single submitter maple syrup urine disease type 1A
- p.Gly244Glu Single submitter maple syrup urine disease type 1A
- p.Gly249Cys Single submitter maple syrup urine disease
- p.Gly249fs Single submitter maple syrup urine disease
- p.Gly249Val Single submitter maple syrup urine disease
- p.Gly372fs Single submitter maple syrup urine disease
- p.His37fs Single submitter maple syrup urine disease type 1A
- p.Leu22fs Single submitter maple syrup urine disease
- p.Leu427Val Single submitter maple syrup urine disease type 1A ⚠
- p.Lys311Ter Single submitter maple syrup urine disease
- p.Lys400fs Single submitter maple syrup urine disease type 1A
- p.Phe252fs Single submitter maple syrup urine disease
- p.Phe262Ile Single submitter maple syrup urine disease type 1A
- p.Phe304fs Single submitter maple syrup urine disease type 1A
- p.Phe409Leu Single submitter maple syrup urine disease
- p.Phe45Ter Single submitter maple syrup urine disease type 1A
- p.Phe61fs Single submitter maple syrup urine disease type 1A
- p.Pro98fs Single submitter maple syrup urine disease
- p.Ser144fs Single submitter maple syrup urine disease
- p.Ser46fs Single submitter maple syrup urine disease
- p.Thr133fs Single submitter maple syrup urine disease
- p.Thr275fs Single submitter maple syrup urine disease type 1A
- p.Tyr106Ter Single submitter maple syrup urine disease
- p.Tyr135Ter Single submitter maple syrup urine disease
- p.Tyr195Ter Single submitter maple syrup urine disease
- p.Tyr331Ter Single submitter maple syrup urine disease
- p.Tyr345fs Single submitter maple syrup urine disease type 1A
- p.Tyr367fs Single submitter maple syrup urine disease type 1A
- p.Tyr438fs Single submitter maple syrup urine disease
- p.Val232fs Single submitter maple syrup urine disease
- c.853+1G>T No assertion criteria maple syrup urine disease type 1A
- p.Met1Ile No assertion criteria maple syrup urine disease type 1A
Conflicting classifications of pathogenicity 48
- c.108+12G>A Single submitter maple syrup urine disease
- c.289-5C>T Single submitter maple syrup urine disease
- c.375+4C>T Single submitter maple syrup urine disease
- c.485-28G>A Single submitter maple syrup urine disease
- c.995+8C>T Single submitter maple syrup urine disease
- c.996-26A>G Single submitter maple syrup urine disease type 1A
- p.Ala145= Single submitter maple syrup urine disease
- p.Ala147= Single submitter maple syrup urine disease
- p.Ala21= Single submitter Inborn genetic diseases
- p.Ala248= Single submitter maple syrup urine disease
- p.Ala248Val Single submitter maple syrup urine disease ⚠
- p.Ala254Asp Single submitter maple syrup urine disease ⚠
- p.Ala397= Single submitter maple syrup urine disease
- p.Ala418Thr Single submitter maple syrup urine disease ⚠
- p.Arg127Trp Single submitter Inborn genetic diseases ⚠
- p.Arg12Pro Single submitter maple syrup urine disease ⚠
- p.Arg189Cys Single submitter maple syrup urine disease ⚠
- p.Arg225Trp Single submitter maple syrup urine disease ⚠
- p.Arg265Trp Single submitter maple syrup urine disease type 1A ⚠
- p.Arg287Gly Single submitter maple syrup urine disease ⚠
- p.Arg297Cys Single submitter maple syrup urine disease type 1A ⚠
- p.Arg315Trp Single submitter maple syrup urine disease ⚠
- p.Arg346Cys Single submitter maple syrup urine disease type 1A ⚠
- p.Arg365Gln Single submitter maple syrup urine disease ⚠
- p.Arg429His Single submitter Inborn genetic diseases ⚠
- p.Asn267Ser Single submitter maple syrup urine disease type 1A ⚠
- p.Asp116Gly Single submitter maple syrup urine disease type 1A ⚠
- p.Asp302Glu Single submitter maple syrup urine disease ⚠
- p.Asp83= Single submitter maple syrup urine disease
- p.Cys264Trp Single submitter maple syrup urine disease type 1A ⚠
- p.Gln357Arg Single submitter maple syrup urine disease type 1A ⚠
- p.Gln42Arg Single submitter maple syrup urine disease ⚠
- p.Gln53His Single submitter maple syrup urine disease ⚠
- p.Glu238Lys Single submitter maple syrup urine disease ⚠
- p.Glu327Asp Single submitter maple syrup urine disease type 1A ⚠
- p.Gly162Asp Single submitter maple syrup urine disease ⚠
- p.His247Arg Single submitter maple syrup urine disease ⚠
- p.His96= Single submitter Inborn genetic diseases
- p.Ile326= Single submitter Inborn genetic diseases
- p.Ile361Val Single submitter maple syrup urine disease ⚠
- p.Phe236= Single submitter Inborn genetic diseases
- p.Phe263del Single submitter maple syrup urine disease
- p.Pro259Leu Single submitter maple syrup urine disease ⚠
- p.Pro417= Single submitter Inborn genetic diseases
- p.Pro98Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr221= Single submitter Inborn genetic diseases
- p.Tyr279Cys Single submitter ⚠
- p.Val306fs Single submitter maple syrup urine disease type 1A
Benign 28
- c.1168-66C>T Multiple submitters
- c.375+74A>G Multiple submitters
- c.376-10A>C Multiple submitters maple syrup urine disease
- c.376-4C>T Multiple submitters maple syrup urine disease
- c.484+149T>C Multiple submitters
- c.484+169T>A Multiple submitters
- c.484+5G>A Multiple submitters maple syrup urine disease
- c.853+118G>A Multiple submitters
- c.853+61T>C Multiple submitters maple syrup urine disease
- c.995+90C>T Multiple submitters maple syrup urine disease
- c.995+9C>T Multiple submitters maple syrup urine disease
- c.996-33dup Multiple submitters maple syrup urine disease
- c.996-6G>A Multiple submitters maple syrup urine disease
- c.-28C>G Multiple submitters
- c.-312A>T Multiple submitters
- c.*17C>T Multiple submitters maple syrup urine disease
- c.*309A>G Multiple submitters maple syrup urine disease
- p.Leu407= Multiple submitters maple syrup urine disease
- p.Leu420= Multiple submitters maple syrup urine disease
- p.Phe324= Multiple submitters maple syrup urine disease
- c.108+325C>T Single submitter
- c.1167+13del Single submitter maple syrup urine disease
- c.1167+177T>C Single submitter
- c.376-3dup Single submitter maple syrup urine disease
- c.376-8A>C Single submitter
- c.646+210A>G Single submitter
- c.995+18del Single submitter maple syrup urine disease
- c.995+18dup Single submitter maple syrup urine disease
Benign/Likely benign 16
- c.1167+17C>G Multiple submitters maple syrup urine disease
- c.288+10G>A Multiple submitters maple syrup urine disease
- c.646+13G>A Multiple submitters maple syrup urine disease
- c.995+26C>T Multiple submitters maple syrup urine disease
- c.995+49G>A Multiple submitters maple syrup urine disease
- c.996-18C>T Multiple submitters maple syrup urine disease
- c.-34T>G Multiple submitters maple syrup urine disease
- c.*125C>T Multiple submitters maple syrup urine disease
- c.*68G>A Multiple submitters maple syrup urine disease
- p.Arg12= Multiple submitters maple syrup urine disease
- p.Arg280= Multiple submitters Inborn genetic diseases
- p.Asn404Ser Multiple submitters maple syrup urine disease
- p.Leu325= Multiple submitters Inborn genetic diseases
- p.Pro38= Multiple submitters Inborn genetic diseases
- p.Pro39His Multiple submitters maple syrup urine disease
- p.Thr151Met Multiple submitters maple syrup urine disease type 1A
Likely benign 330
Showing the top 300 by review status; the full set is in the sitemap.
- c.109-9C>T Multiple submitters maple syrup urine disease
- c.853+10C>T Multiple submitters maple syrup urine disease
- c.853+11T>C Multiple submitters maple syrup urine disease
- c.853+30C>T Multiple submitters
- c.995+19G>A Multiple submitters maple syrup urine disease
- c.996-68C>T Multiple submitters
- p.Ala220= Multiple submitters Inborn genetic diseases
- p.Ala59= Multiple submitters Inborn genetic diseases
- p.Ala7= Multiple submitters maple syrup urine disease
- p.Arg297= Multiple submitters Inborn genetic diseases
- p.Asn227= Multiple submitters maple syrup urine disease
- p.Asn308= Multiple submitters Inborn genetic diseases
- p.Asn71= Multiple submitters maple syrup urine disease
- p.Asp340= Multiple submitters maple syrup urine disease
- p.Asp411= Multiple submitters maple syrup urine disease
- p.Gln43= Multiple submitters maple syrup urine disease
- p.Glu436= Multiple submitters maple syrup urine disease
- p.Gly281= Multiple submitters maple syrup urine disease
- p.His141= Multiple submitters maple syrup urine disease
- p.Ile333= Multiple submitters maple syrup urine disease
- p.Leu173= Multiple submitters Inborn genetic diseases
- p.Leu25= Multiple submitters maple syrup urine disease
- p.Phe202= Multiple submitters maple syrup urine disease
- p.Phe252= Multiple submitters Inborn genetic diseases
- p.Phe443= Multiple submitters Inborn genetic diseases
- p.Ser242= Multiple submitters maple syrup urine disease
- p.Tyr269= Multiple submitters maple syrup urine disease
- p.Val231= Multiple submitters maple syrup urine disease
- p.Val351= Multiple submitters Inborn genetic diseases
- c.108+14C>T Single submitter maple syrup urine disease
- c.108+15C>A Single submitter maple syrup urine disease
- c.108+15C>T Single submitter maple syrup urine disease
- c.108+17C>T Single submitter maple syrup urine disease
- c.108+8C>T Single submitter maple syrup urine disease
- c.108+9C>T Single submitter maple syrup urine disease
- c.109-11C>G Single submitter maple syrup urine disease
- c.109-14G>A Single submitter maple syrup urine disease
- c.109-16C>T Single submitter maple syrup urine disease
- c.109-19C>T Single submitter maple syrup urine disease
- c.109-4C>G Single submitter maple syrup urine disease
- c.109-5C>T Single submitter maple syrup urine disease
- c.109-6C>T Single submitter maple syrup urine disease
- c.109-9C>G Single submitter maple syrup urine disease
- c.1167+11C>A Single submitter maple syrup urine disease
- c.1167+13C>T Single submitter maple syrup urine disease
- c.1167+14G>A Single submitter maple syrup urine disease
- c.1167+17C>A Single submitter maple syrup urine disease
- c.1167+17C>T Single submitter maple syrup urine disease
- c.1167+18G>A Single submitter maple syrup urine disease
- c.1167+19G>C Single submitter maple syrup urine disease
- c.1167+7G>A Single submitter maple syrup urine disease
- c.1167+9G>T Single submitter maple syrup urine disease
- c.1168-10G>C Single submitter maple syrup urine disease
- c.1168-11dup Single submitter maple syrup urine disease
- c.1168-12A>G Single submitter maple syrup urine disease
- c.1168-15C>A Single submitter maple syrup urine disease
- c.1168-16C>T Single submitter maple syrup urine disease
- c.1168-4A>G Single submitter maple syrup urine disease
- c.1168-5C>T Single submitter maple syrup urine disease
- c.1168-6C>T Single submitter maple syrup urine disease
- c.1168-8C>G Single submitter maple syrup urine disease
- c.288+10G>C Single submitter maple syrup urine disease
- c.288+11G>A Single submitter maple syrup urine disease
- c.288+15C>T Single submitter maple syrup urine disease
- c.288+16C>T Single submitter maple syrup urine disease
- c.288+19C>A Single submitter maple syrup urine disease
- c.288+19C>G Single submitter maple syrup urine disease
- c.288+19C>T Single submitter maple syrup urine disease
- c.288+7G>A Single submitter maple syrup urine disease
- c.289-10C>T Single submitter maple syrup urine disease
- c.289-12C>T Single submitter maple syrup urine disease
- c.289-17T>G Single submitter maple syrup urine disease
- c.289-20A>G Single submitter maple syrup urine disease
- c.289-45C>G Single submitter
- c.289-4G>A Single submitter maple syrup urine disease
- c.289-4G>C Single submitter maple syrup urine disease
- c.289-6C>G Single submitter maple syrup urine disease
- c.289-7C>A Single submitter maple syrup urine disease
- c.289-7C>T Single submitter maple syrup urine disease
- c.289-8A>C Single submitter maple syrup urine disease
- c.375+10G>A Single submitter maple syrup urine disease
- c.375+11A>G Single submitter maple syrup urine disease
- c.375+16A>G Single submitter maple syrup urine disease
- c.375+17C>T Single submitter maple syrup urine disease
- c.375+19del Single submitter maple syrup urine disease
- c.375+7G>A Single submitter maple syrup urine disease
- c.375+9G>A Single submitter maple syrup urine disease
- c.376-10_376-9delinsCA Single submitter maple syrup urine disease
- c.376-10A>G Single submitter maple syrup urine disease
- c.376-12C>T Single submitter maple syrup urine disease
- c.376-13T>A Single submitter maple syrup urine disease
- c.376-15C>A Single submitter maple syrup urine disease
- c.376-19G>C Single submitter maple syrup urine disease
- c.376-20G>C Single submitter maple syrup urine disease
- c.376-7C>A Single submitter maple syrup urine disease
- c.376-8A>T Single submitter maple syrup urine disease
- c.376-9C>T Single submitter maple syrup urine disease
- c.484+10T>G Single submitter maple syrup urine disease
- c.484+12C>T Single submitter maple syrup urine disease
- c.484+13G>A Single submitter maple syrup urine disease
- c.484+16G>A Single submitter maple syrup urine disease
- c.484+18T>A Single submitter maple syrup urine disease
- c.484+19T>C Single submitter maple syrup urine disease
- c.484+7C>T Single submitter maple syrup urine disease
- c.484+7dup Single submitter maple syrup urine disease
- c.484+8_484+11dup Single submitter maple syrup urine disease
- c.485-10C>A Single submitter maple syrup urine disease
- c.485-10C>T Single submitter maple syrup urine disease
- c.485-13C>G Single submitter maple syrup urine disease
- c.485-19T>C Single submitter maple syrup urine disease
- c.485-7C>G Single submitter maple syrup urine disease
- c.485-8C>A Single submitter maple syrup urine disease
- c.485-8C>T Single submitter maple syrup urine disease
- c.646+12T>C Single submitter maple syrup urine disease
- c.646+13G>C Single submitter maple syrup urine disease
- c.646+149A>G Single submitter
- c.646+15C>T Single submitter maple syrup urine disease
- c.646+20A>G Single submitter maple syrup urine disease
- c.646+7ATGC[3] Single submitter maple syrup urine disease
- c.646+8T>C Single submitter maple syrup urine disease
- c.647-10T>C Single submitter maple syrup urine disease
- c.647-16C>T Single submitter maple syrup urine disease
- c.647-18C>G Single submitter maple syrup urine disease
- c.647-18C>T Single submitter maple syrup urine disease
- c.647-19A>G Single submitter maple syrup urine disease
- c.647-6C>T Single submitter maple syrup urine disease
- c.647-7C>G Single submitter maple syrup urine disease
- c.647-7C>T Single submitter maple syrup urine disease
- c.647-8C>T Single submitter maple syrup urine disease
- c.853+12G>A Single submitter maple syrup urine disease
- c.853+13C>T Single submitter maple syrup urine disease
- c.853+19G>A Single submitter maple syrup urine disease
- c.853+19G>T Single submitter maple syrup urine disease
- c.853+20C>T Single submitter maple syrup urine disease
- c.853+8C>T Single submitter maple syrup urine disease
- c.854-14_854-13del Single submitter maple syrup urine disease
- c.854-14C>G Single submitter maple syrup urine disease
- c.854-14C>T Single submitter maple syrup urine disease
- c.854-16C>T Single submitter maple syrup urine disease
- c.854-8C>T Single submitter maple syrup urine disease
- c.995+10G>A Single submitter maple syrup urine disease
- c.995+10G>C Single submitter maple syrup urine disease
- c.995+13C>T Single submitter maple syrup urine disease
- c.995+15C>T Single submitter maple syrup urine disease
- c.995+16_995+18del Single submitter maple syrup urine disease
- c.995+16C>A Single submitter maple syrup urine disease
- c.995+17C>G Single submitter maple syrup urine disease
- c.995+17C>T Single submitter maple syrup urine disease
- c.995+18C>A Single submitter maple syrup urine disease
- c.995+18C>G Single submitter maple syrup urine disease
- c.995+18C>T Single submitter maple syrup urine disease
- c.995+20T>C Single submitter maple syrup urine disease
- c.996-10C>G Single submitter maple syrup urine disease
- c.996-10C>T Single submitter maple syrup urine disease
- c.996-11C>T Single submitter maple syrup urine disease
- c.996-13T>C Single submitter maple syrup urine disease
- c.996-19G>A Single submitter maple syrup urine disease
- c.996-19G>C Single submitter maple syrup urine disease
- c.996-20G>A Single submitter maple syrup urine disease
- c.996-21_996-14del Single submitter maple syrup urine disease
- c.996-5T>C Single submitter maple syrup urine disease
- c.996-6G>C Single submitter maple syrup urine disease
- c.996-8C>T Single submitter maple syrup urine disease
- c.996-93C>A Single submitter
- c.996-9C>G Single submitter maple syrup urine disease
- c.-22C>A Single submitter
- c.-25G>C Single submitter
- c.*134C>T Single submitter maple syrup urine disease
- c.*324G>A Single submitter maple syrup urine disease
- c.*334C>T Single submitter maple syrup urine disease
- p.Ala145Val Single submitter maple syrup urine disease
- p.Ala146= Single submitter maple syrup urine disease
- p.Ala176= Single submitter maple syrup urine disease
- p.Ala2= Single submitter maple syrup urine disease
- p.Ala20= Single submitter maple syrup urine disease
- p.Ala216= Single submitter maple syrup urine disease
- p.Ala219= Single submitter maple syrup urine disease
- p.Ala223= Single submitter maple syrup urine disease
- p.Ala228= Single submitter maple syrup urine disease
- p.Ala241= Single submitter maple syrup urine disease
- p.Ala246Thr Single submitter maple syrup urine disease ⚠
- p.Ala254= Single submitter maple syrup urine disease
- p.Ala270= Single submitter maple syrup urine disease
- p.Ala305= Single submitter maple syrup urine disease
- p.Ala309= Single submitter maple syrup urine disease
- p.Ala313= Single submitter maple syrup urine disease
- p.Ala344= Single submitter maple syrup urine disease
- p.Ala381= Single submitter maple syrup urine disease
- p.Ala393= Single submitter maple syrup urine disease
- p.Ala4= Single submitter maple syrup urine disease
- p.Ala57= Single submitter maple syrup urine disease
- p.Ala59Val Single submitter maple syrup urine disease
- p.Ala8= Single submitter maple syrup urine disease
- p.Arg117= Single submitter maple syrup urine disease
- p.Arg15= Single submitter maple syrup urine disease
- p.Arg167= Single submitter maple syrup urine disease
- p.Arg189= Single submitter maple syrup urine disease
- p.Arg225= Single submitter maple syrup urine disease
- p.Arg265= Single submitter maple syrup urine disease
- p.Arg314= Single submitter maple syrup urine disease
- p.Arg346= Single submitter maple syrup urine disease
- p.Arg383= Single submitter maple syrup urine disease
- p.Arg399= Single submitter maple syrup urine disease
- p.Arg80= Single submitter maple syrup urine disease
- p.Arg84= Single submitter maple syrup urine disease
- p.Arg9= Single submitter maple syrup urine disease
- p.Asn113= Single submitter maple syrup urine disease
- p.Asn134= Single submitter maple syrup urine disease
- p.Asn14= Single submitter maple syrup urine disease
- p.Asn251= Single submitter maple syrup urine disease
- p.Asn266= Single submitter maple syrup urine disease
- p.Asn321= Single submitter maple syrup urine disease
- p.Asp116= Single submitter maple syrup urine disease
- p.Asp152= Single submitter maple syrup urine disease
- p.Asp168= Single submitter maple syrup urine disease
- p.Asp245= Single submitter maple syrup urine disease
- p.Asp444= Single submitter maple syrup urine disease
- p.Asp94= Single submitter maple syrup urine disease
- p.Gln157= Single submitter Inborn genetic diseases
- p.Gln371= Single submitter maple syrup urine disease
- p.Gln41= Single submitter maple syrup urine disease
- p.Gln419= Single submitter maple syrup urine disease
- p.Gln42= Single submitter maple syrup urine disease
- p.Glu238= Single submitter Inborn genetic diseases
- p.Glu243= Single submitter maple syrup urine disease
- p.Glu327= Single submitter maple syrup urine disease
- p.Glu379= Single submitter maple syrup urine disease
- p.Glu392= Single submitter maple syrup urine disease
- p.Glu398= Single submitter maple syrup urine disease
- p.Glu425= Single submitter maple syrup urine disease
- p.Glu66= Single submitter maple syrup urine disease
- p.Gly196= Single submitter maple syrup urine disease
- p.Gly244= Single submitter maple syrup urine disease
- p.Gly29= Single submitter maple syrup urine disease
- p.Gly86= Single submitter maple syrup urine disease
- p.His194= Single submitter maple syrup urine disease
- p.His37= Single submitter maple syrup urine disease
- p.His437= Single submitter maple syrup urine disease
- p.Ile205= Single submitter maple syrup urine disease
- p.Ile213= Single submitter maple syrup urine disease
- p.Ile233= Single submitter maple syrup urine disease
- p.Ile296= Single submitter maple syrup urine disease
- p.Ile5= Single submitter maple syrup urine disease
- p.Ile62= Single submitter maple syrup urine disease
- p.Ile68= Single submitter maple syrup urine disease
- p.Ile73= Single submitter maple syrup urine disease
- p.Ile76= Single submitter maple syrup urine disease
- p.Ile89= Single submitter maple syrup urine disease
- p.Leu103= Single submitter maple syrup urine disease
- p.Leu105= Single submitter maple syrup urine disease
- p.Leu112= Single submitter maple syrup urine disease
- p.Leu119= Single submitter maple syrup urine disease
- p.Leu13= Single submitter maple syrup urine disease
- p.Leu153= Single submitter maple syrup urine disease
- p.Leu164= Single submitter maple syrup urine disease
- p.Leu209= Single submitter maple syrup urine disease
- p.Leu22= Single submitter maple syrup urine disease
- p.Leu23= Single submitter maple syrup urine disease
- p.Leu364= Single submitter maple syrup urine disease
- p.Leu368= Single submitter maple syrup urine disease
- p.Leu408= Single submitter maple syrup urine disease
- p.Leu427= Single submitter maple syrup urine disease
- p.Leu440= Single submitter maple syrup urine disease
- p.Leu97= Single submitter maple syrup urine disease
- p.Lys224= Single submitter maple syrup urine disease
- p.Lys445= Single submitter maple syrup urine disease
- p.Lys64= Single submitter maple syrup urine disease
- p.Phe174= Single submitter maple syrup urine disease
- p.Phe263= Single submitter maple syrup urine disease
- p.Phe394= Single submitter maple syrup urine disease
- p.Phe61= Single submitter maple syrup urine disease
- p.Pro170= Single submitter maple syrup urine disease
- p.Pro259= Single submitter maple syrup urine disease
- p.Pro274= Single submitter maple syrup urine disease
- p.Pro28= Single submitter maple syrup urine disease
- p.Pro289= Single submitter maple syrup urine disease
- p.Pro360= Single submitter maple syrup urine disease
- p.Pro39= Single submitter maple syrup urine disease
- p.Pro39Arg Single submitter maple syrup urine disease
- p.Pro39Ser Single submitter maple syrup urine disease
- p.Pro401= Single submitter maple syrup urine disease
- p.Pro403= Single submitter maple syrup urine disease
- p.Pro405= Single submitter maple syrup urine disease
- p.Pro439= Single submitter maple syrup urine disease
- p.Pro52= Single submitter maple syrup urine disease
- p.Pro55= Single submitter maple syrup urine disease
- p.Pro70= Single submitter maple syrup urine disease
- p.Pro77= Single submitter maple syrup urine disease
- p.Pro98= Single submitter maple syrup urine disease
- p.Ser108= Single submitter maple syrup urine disease
- p.Ser129= Single submitter maple syrup urine disease
- p.Ser183= Single submitter maple syrup urine disease
- p.Ser206= Single submitter maple syrup urine disease
- p.Ser272= Single submitter maple syrup urine disease
- p.Ser276= Single submitter maple syrup urine disease
- p.Ser342= Single submitter maple syrup urine disease
- p.Ser347= Single submitter maple syrup urine disease
- p.Ser386= Single submitter maple syrup urine disease
- p.Ser426= Single submitter maple syrup urine disease
- p.Ser46= Single submitter maple syrup urine disease
Uncertain significance 171
- c.1167+4A>C Multiple submitters maple syrup urine disease
- p.Ala146Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala219Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala222Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala317Ser Multiple submitters maple syrup urine disease ⚠
- p.Ala344Val Multiple submitters maple syrup urine disease
- p.Ala397Thr Multiple submitters maple syrup urine disease ⚠
- p.Arg124Pro Multiple submitters maple syrup urine disease ⚠
- p.Arg167Trp Multiple submitters maple syrup urine disease ⚠
- p.Arg200Cys Multiple submitters maple syrup urine disease ⚠
- p.Arg315Gln Multiple submitters maple syrup urine disease ⚠
- p.Arg316Trp Multiple submitters maple syrup urine disease ⚠
- p.Arg365Trp Multiple submitters maple syrup urine disease ⚠
- p.Arg399Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg399Trp Multiple submitters maple syrup urine disease type 1A ⚠
- p.Asn150Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn352Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln87His Multiple submitters Inborn genetic diseases ⚠
- p.Glu398Lys Multiple submitters maple syrup urine disease ⚠
- p.Glu93Lys Multiple submitters maple syrup urine disease
- p.Gly196Ser Multiple submitters maple syrup urine disease ⚠
- p.Gly237Ser Multiple submitters maple syrup urine disease ⚠
- p.Gly281Val Multiple submitters BCKDHA-related disorder ⚠
- p.Ile326Met Multiple submitters maple syrup urine disease ⚠
- p.Ile68Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met165Ile Multiple submitters maple syrup urine disease
- p.Met82Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe263Leu Multiple submitters maple syrup urine disease ⚠
- p.Phe304Leu Multiple submitters maple syrup urine disease ⚠
- p.Pro170Ser Multiple submitters maple syrup urine disease ⚠
- p.Pro95Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser426Phe Multiple submitters maple syrup urine disease ⚠
- p.Thr133Ala Multiple submitters maple syrup urine disease ⚠
- p.Val203Ile Multiple submitters maple syrup urine disease ⚠
- p.Val81Ile Multiple submitters maple syrup urine disease ⚠
- c.108+4A>G Single submitter maple syrup urine disease
- c.109-15T>A Single submitter maple syrup urine disease
- c.111_122del12 Single submitter maple syrup urine disease
- c.1168-31C>T Single submitter
- c.1168-33G>A Single submitter
- c.375+5G>A Single submitter maple syrup urine disease
- c.376-20G>A Single submitter
- c.853+17C>A Single submitter
- c.995+9C>G Single submitter maple syrup urine disease
- c.*126G>A Single submitter maple syrup urine disease
- c.*20C>A Single submitter maple syrup urine disease
- c.*213G>A Single submitter maple syrup urine disease
- c.*244C>T Single submitter maple syrup urine disease
- c.*301G>A Single submitter maple syrup urine disease
- c.*314A>G Single submitter maple syrup urine disease
- c.*335G>A Single submitter maple syrup urine disease
- c.*33C>G Single submitter
- c.*365A>G Single submitter maple syrup urine disease
- c.*384C>T Single submitter maple syrup urine disease
- p.Ala147Thr Single submitter Inborn genetic diseases ⚠
- p.Ala20Val Single submitter maple syrup urine disease ⚠
- p.Ala21Val Single submitter ⚠
- p.Ala226Val Single submitter maple syrup urine disease ⚠
- p.Ala286Thr Single submitter Inborn genetic diseases ⚠
- p.Ala309Ser Single submitter maple syrup urine disease ⚠
- p.Ala309Thr Single submitter maple syrup urine disease ⚠
- p.Ala6Val Single submitter Inborn genetic diseases ⚠
- p.Ala8Pro Single submitter Inborn genetic diseases ⚠
- p.Arg12Gln Single submitter maple syrup urine disease ⚠
- p.Arg15Cys Single submitter maple syrup urine disease
- p.Arg280Cys Single submitter maple syrup urine disease ⚠
- p.Arg316Gln Single submitter maple syrup urine disease ⚠
- p.Arg316Leu Single submitter Inborn genetic diseases ⚠
- p.Arg387His Single submitter maple syrup urine disease ⚠
- p.Arg421Cys Single submitter Inborn genetic diseases ⚠
- p.Arg421His Single submitter maple syrup urine disease ⚠
- p.Arg429Cys Single submitter maple syrup urine disease ⚠
- p.Arg80His Single submitter maple syrup urine disease ⚠
- p.Arg84Gln Single submitter maple syrup urine disease
- p.Arg84Trp Single submitter Inborn genetic diseases ⚠
- p.Asn150Ser Single submitter maple syrup urine disease ⚠
- p.Asn229Ser Single submitter Inborn genetic diseases ⚠
- p.Asn308Ser Single submitter Inborn genetic diseases ⚠
- p.Asn406= Single submitter maple syrup urine disease
- p.Asn71Ser Single submitter Inborn genetic diseases ⚠
- p.Asp152Glu Single submitter maple syrup urine disease ⚠
- p.Asp168Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp358Glu Single submitter maple syrup urine disease ⚠
- p.Asp358Gly Single submitter maple syrup urine disease ⚠
- p.Asp444Asn Single submitter Inborn genetic diseases ⚠
- p.Asp50His Single submitter maple syrup urine disease ⚠
- p.Asp94Glu Single submitter maple syrup urine disease
- p.Cys258Arg Single submitter ⚠
- p.Cys258Gly Single submitter Inborn genetic diseases ⚠
- p.Gln19His Single submitter Inborn genetic diseases ⚠
- p.Gln19Lys Single submitter Inborn genetic diseases ⚠
- p.Gln41Arg Single submitter ⚠
- p.Gln432His Single submitter Inborn genetic diseases ⚠
- p.Glu312Lys Single submitter Inborn genetic diseases ⚠
- p.Gly16Asp Single submitter maple syrup urine disease ⚠
- p.Gly244Val Single submitter maple syrup urine disease ⚠
- p.Gly281Ser Single submitter Inborn genetic diseases ⚠
- p.His141Asn Single submitter Inborn genetic diseases ⚠
- p.His359Pro Single submitter Inborn genetic diseases ⚠
- p.His37Leu Single submitter Inborn genetic diseases ⚠
- p.His430Pro Single submitter Inborn genetic diseases ⚠
- p.Ile326Val Single submitter maple syrup urine disease ⚠
- p.Ile5Thr Single submitter Inborn genetic diseases ⚠
- p.Ile68Val Single submitter maple syrup urine disease ⚠
- p.Leu112Pro Single submitter ⚠
- p.Leu209Pro Single submitter maple syrup urine disease type 1A ⚠
- p.Leu325Phe Single submitter Inborn genetic diseases ⚠
- p.Leu440Pro Single submitter Inborn genetic diseases ⚠
- p.Leu48Pro Single submitter maple syrup urine disease ⚠
- p.Lys101Asn Single submitter maple syrup urine disease ⚠
- p.Lys99Asn Single submitter Inborn genetic diseases
- p.Met294Ile Single submitter maple syrup urine disease ⚠
- p.Phe394Leu Single submitter maple syrup urine disease ⚠
- p.Phe443Leu Single submitter Inborn genetic diseases ⚠
- p.Phe45Leu Single submitter maple syrup urine disease ⚠
- p.Pro208Leu Single submitter maple syrup urine disease ⚠
- p.Pro28Arg Single submitter Inborn genetic diseases ⚠
- p.Pro323Arg Single submitter maple syrup urine disease ⚠
- p.Pro323His Single submitter maple syrup urine disease type 1A ⚠
- p.Pro360Ser Single submitter Inborn genetic diseases ⚠
- p.Pro38Ser Single submitter Inborn genetic diseases ⚠
- p.Pro403_Asn404insLysPro Single submitter
- p.Pro52Ser Single submitter maple syrup urine disease type 1A ⚠
- p.Pro70Ser Single submitter maple syrup urine disease ⚠
- p.Pro91Thr Single submitter Inborn genetic diseases ⚠
- p.Pro98Ser Single submitter Inborn genetic diseases ⚠
- p.Ser108Gly Single submitter Inborn genetic diseases ⚠
- p.Ser337Arg Single submitter maple syrup urine disease ⚠
- p.Ser347Leu Single submitter Inborn genetic diseases ⚠
- p.Ser58Leu Single submitter maple syrup urine disease ⚠
- p.Ser92= Single submitter maple syrup urine disease
- p.Thr255Ser Single submitter Inborn genetic diseases ⚠
- p.Thr273Ala Single submitter ⚠
- p.Tyr106Cys Single submitter maple syrup urine disease type 1A ⚠
- p.Tyr120Cys Single submitter maple syrup urine disease ⚠
- p.Tyr131Cys Single submitter ⚠
- p.Tyr166Phe Single submitter maple syrup urine disease ⚠
- p.Tyr169His Single submitter Inborn genetic diseases ⚠
- p.Tyr307His Single submitter maple syrup urine disease ⚠
- p.Tyr367Ser Single submitter maple syrup urine disease ⚠
- p.Val10Phe Single submitter maple syrup urine disease ⚠
- p.Val142Met Single submitter maple syrup urine disease ⚠
- p.Val231Phe Single submitter maple syrup urine disease ⚠
- p.Val232Ile Single submitter maple syrup urine disease ⚠
- p.Val298Met Single submitter maple syrup urine disease type 1A ⚠
- p.Val72Ile Single submitter maple syrup urine disease ⚠
- c.-6G>A No assertion criteria maple syrup urine disease type 1A
- c.*223T>A No assertion criteria maple syrup urine disease type 1A
- c.*9C>T No assertion criteria maple syrup urine disease type 1A
- p.Ala210Ser No assertion criteria maple syrup urine disease type 1A ⚠
- p.Ala309Val No assertion criteria maple syrup urine disease type 1A ⚠
- p.Arg167Gln No assertion criteria maple syrup urine disease type 1A ⚠
- p.Asn90Ser No assertion criteria maple syrup urine disease type 1A ⚠
- p.Gln123= No assertion criteria maple syrup urine disease type 1A
- p.Gln424del No assertion criteria maple syrup urine disease type 1A
- p.Gln44dup No assertion criteria maple syrup urine disease type 1A
- p.Glu172Gly No assertion criteria maple syrup urine disease type 1A ⚠
- p.Glu60= No assertion criteria maple syrup urine disease type 1A
- p.Gly143= No assertion criteria maple syrup urine disease type 1A
- p.Gly143Glu No assertion criteria maple syrup urine disease type 1A ⚠
- p.Gly196Arg No assertion criteria maple syrup urine disease type 1A ⚠
- p.Ile233Val No assertion criteria maple syrup urine disease type 1A ⚠
- p.Ile76Leu No assertion criteria maple syrup urine disease type 1A
- p.Leu22Val No assertion criteria maple syrup urine disease type 1A ⚠
- p.Leu408Phe No assertion criteria maple syrup urine disease type 1A
- p.Met191Ile No assertion criteria maple syrup urine disease type 1A ⚠
- p.Met294Leu No assertion criteria maple syrup urine disease type 1A ⚠
- p.Phe409Val No assertion criteria maple syrup urine disease type 1A ⚠
- p.Pro214Leu No assertion criteria maple syrup urine disease type 1A ⚠
- p.Ser47Pro No assertion criteria maple syrup urine disease type 1A ⚠
- p.Val231Ile No assertion criteria maple syrup urine disease type 1A ⚠