BCKDK — 188 ClinVar variants
All ClinVar germline BCKDK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
7 Pathogenic · 9 Likely pathogenic · 8 Conflicting · 5 Benign · 2 Benign/Likely benign · 63 Likely benign · 94 Uncertain significance
Full BCKDK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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.
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BCKDK p.Arg327Trp
Likely pathogenic
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BCKDK p.Arg374Trp
Conflicting
Single submitter
BCKDK-related disorder
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BCKDK p.Ala283Thr
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Ala29Val
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Arg177Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDK p.Arg406Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDK p.Gln341Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDK p.Ile102Thr
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Ile122Val
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Ile230Met
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Ile265Leu
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Ile302Val
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Lys163Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDK p.Lys184Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDK p.Pro141Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BCKDK p.Pro16Leu Uncertain significance Multiple submitters
-
BCKDK p.Val125Met
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Val186Ile
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
- BCKDK p.Ala209Val Uncertain significance Single submitter
-
BCKDK p.Ala321Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Ala338Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDK p.Ala358Thr Uncertain significance Single submitter
-
BCKDK p.Ala4Pro
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Ala58Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Ala91Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDK p.Arg174His Uncertain significance Single submitter
-
BCKDK p.Arg177Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Arg187Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDK p.Arg197Ser Uncertain significance Single submitter
-
BCKDK p.Arg327Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Arg399Gln
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Arg401His
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Arg406Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Arg69Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Asn248Ser
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Asp306Gly
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
- BCKDK p.Asp315His Uncertain significance Single submitter
- BCKDK p.Asp353Gly Uncertain significance Single submitter
- BCKDK p.Gln150Arg Uncertain significance Single submitter
-
BCKDK p.Glu337Gly
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Glu97Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Gly108Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Gly12Arg
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
- BCKDK p.Gly13Ala Uncertain significance Single submitter
-
BCKDK p.His162Gln
Uncertain significance
Single submitter
maple syrup urine disease, mild variant
-
BCKDK p.His39Gln
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
- BCKDK p.Leu27Phe Uncertain significance Single submitter
-
BCKDK p.Lys228Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Met202Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDK p.Phe114Ser Uncertain significance Single submitter
-
BCKDK p.Pro11Ser
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Pro250Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Pro274Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Pro66Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Ser196Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Ser409Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Thr137Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Thr372Arg
Uncertain significance
Single submitter
BCKDK-related disorder
-
BCKDK p.Thr73Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Tyr188Cys
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
Predictors split 26
The independent predictors disagree with each other — read with care.
-
BCKDK p.Arg224Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCKDK p.Ile231Thr
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Thr284Ile
Uncertain significance
Multiple submitters
branched-chain keto acid dehydrogenase kinase deficiency
- BCKDK p.Arg156Gly Uncertain significance Single submitter
-
BCKDK p.Arg253Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Arg327Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Arg411Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDK p.Arg69His Uncertain significance Single submitter
-
BCKDK p.Arg92Trp
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
- BCKDK p.Asn119Lys Uncertain significance Single submitter
-
BCKDK p.Asp147Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDK p.Asp83Glu Uncertain significance Single submitter
-
BCKDK p.Gln95Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Glu148Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- BCKDK p.Glu232Lys Uncertain significance Single submitter
-
BCKDK p.Gly381Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Lys65Glu
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Phe133Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Phe349Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Phe410Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Ser356Cys
Conflicting
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
-
BCKDK p.Thr167Asn
Uncertain significance
Single submitter
branched-chain keto acid dehydrogenase kinase deficiency
- BCKDK p.Thr372Met Uncertain significance Single submitter
-
BCKDK p.Val235Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Val235Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCKDK p.Val299Gly
Uncertain significance
Single submitter
Inborn genetic diseases
All BCKDK variants
Pathogenic 7
- p.Arg156Ter Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Asn119fs Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Ile116Asn Single submitter BCKDK-related disorder
- p.Leu17fs Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.264+1G>C No assertion criteria branched-chain keto acid dehydrogenase kinase deficiency
- p.Arg224Pro No assertion criteria branched-chain keto acid dehydrogenase kinase deficiency
- p.Met74fs No assertion criteria branched-chain keto acid dehydrogenase kinase deficiency
Likely pathogenic 9
- c.543+1G>A Single submitter maple syrup urine disease type 1A
- p.Arg312Ser Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Arg327Trp Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Gln145Ter Single submitter
- p.Thr35fs Single submitter BCKDK-related disorder
- p.Tyr151Ter Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Tyr293Ter Single submitter
- p.Asp216fs No assertion criteria intellectual disability
- p.Leu389fs No assertion criteria branched-chain keto acid dehydrogenase kinase deficiency
Conflicting classifications of pathogenicity 8
- p.Arg374Trp Single submitter BCKDK-related disorder ⚠
- p.Arg406= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Asp395= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Gln387Ter Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Leu241= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Phe368= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Ser356Cys Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Thr223= Single submitter
Benign 5
- c.716+147C>T Multiple submitters
- c.845+10C>T Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- c.845+31C>T Multiple submitters
- p.Thr205= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Asp83= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
Benign/Likely benign 2
- c.544-10C>T Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Ala61Ser Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
Likely benign 63
- c.196-14del Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- c.717-15C>T Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- c.717-4G>A Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Arg187= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Gly22= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.His211= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Ile320= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Ser196= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Val218= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- p.Val307= Multiple submitters
- p.Val40= Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency
- c.1094+7C>A Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.195+10G>A Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.195+20G>A Single submitter
- c.195+6dup Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.196-4C>T Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.196-8del Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.375+14G>A Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.376-13C>T Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.423+16G>C Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.423+9_423+10insCTTCCCTCC Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.424-18T>C Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.424-20C>T Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.543+7G>T Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.544-8C>G Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.716+18C>T Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.716+19_716+20del Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.717-14G>A Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.717-5C>T Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.846-8C>T Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.936-10A>G Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.936-11C>A Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Ala24Thr Single submitter Inborn genetic diseases
- p.Ala26= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Ala377= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Arg18= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Arg399= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Arg411= Single submitter
- p.Asp324= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Asp404= Single submitter
- p.Cys152= Single submitter
- p.Gly172= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Gly357= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.His124= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.His355= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Ile403= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Leu128= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Leu173= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Leu185= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Leu76= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Leu88= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Pro11= Single submitter
- p.Pro113= Single submitter
- p.Pro215= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Pro274= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Ser356= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Ser5= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Thr372= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Thr394= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Thr73= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Val299= Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.642+10T>A No assertion criteria BCKDK-related disorder
- c.845+6G>A No assertion criteria BCKDK-related disorder
Uncertain significance 94
- c.846-3T>A Multiple submitters Inborn genetic diseases
- p.Ala283Thr Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ala29Val Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Arg177Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg224Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg406Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln341Lys Multiple submitters Inborn genetic diseases ⚠
- p.Ile102Thr Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ile122Val Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ile230Met Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ile231Thr Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ile265Leu Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ile302Val Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Lys163Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys184Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro141Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro16Leu Multiple submitters ⚠
- p.Thr284Ile Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Val125Met Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Val186Ile Multiple submitters branched-chain keto acid dehydrogenase kinase deficiency ⚠
- c.424-6C>G Single submitter BCKDK-related disorder
- c.716+10G>C Single submitter
- c.846-3T>C Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- c.*9C>A Single submitter
- c.*9C>T Single submitter
- p.Ala209Val Single submitter ⚠
- p.Ala321Thr Single submitter Inborn genetic diseases ⚠
- p.Ala338Asp Single submitter Inborn genetic diseases ⚠
- p.Ala358Thr Single submitter ⚠
- p.Ala4Pro Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ala58Thr Single submitter Inborn genetic diseases ⚠
- p.Ala91Val Single submitter Inborn genetic diseases ⚠
- p.Arg156Gly Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg177Gln Single submitter Inborn genetic diseases ⚠
- p.Arg187Cys Single submitter Inborn genetic diseases ⚠
- p.Arg197Ser Single submitter ⚠
- p.Arg253Cys Single submitter Inborn genetic diseases ⚠
- p.Arg261Trp Single submitter Inborn genetic diseases
- p.Arg327Gln Single submitter Inborn genetic diseases ⚠
- p.Arg327Gly Single submitter Inborn genetic diseases ⚠
- p.Arg399Gln Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Arg401His Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Arg406Gln Single submitter Inborn genetic diseases ⚠
- p.Arg411Gln Single submitter Inborn genetic diseases ⚠
- p.Arg69Cys Single submitter Inborn genetic diseases ⚠
- p.Arg69His Single submitter ⚠
- p.Arg92Trp Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Asn119Lys Single submitter ⚠
- p.Asn248Ser Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Asp147Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp306Gly Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Asp315His Single submitter ⚠
- p.Asp353Gly Single submitter ⚠
- p.Asp83Glu Single submitter ⚠
- p.Gln150Arg Single submitter ⚠
- p.Gln385Ter Single submitter
- p.Gln95Arg Single submitter Inborn genetic diseases ⚠
- p.Glu148Lys Single submitter Inborn genetic diseases ⚠
- p.Glu171= Single submitter
- p.Glu232Lys Single submitter ⚠
- p.Glu337Gly Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Glu97Lys Single submitter Inborn genetic diseases ⚠
- p.Gly108Asp Single submitter Inborn genetic diseases ⚠
- p.Gly12Arg Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Gly13Ala Single submitter ⚠
- p.Gly381Ser Single submitter Inborn genetic diseases ⚠
- p.His162Gln Single submitter maple syrup urine disease, mild variant ⚠
- p.His39Gln Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Ile116Thr Single submitter branched-chain keto acid dehydrogenase kinase deficiency
- p.Leu27Phe Single submitter ⚠
- p.Leu386_Gln390del Single submitter
- p.Lys228Arg Single submitter Inborn genetic diseases ⚠
- p.Lys65Glu Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Met202Val Single submitter Inborn genetic diseases ⚠
- p.Phe114Ser Single submitter ⚠
- p.Phe133Leu Single submitter Inborn genetic diseases ⚠
- p.Phe349Leu Single submitter Inborn genetic diseases ⚠
- p.Phe410Ser Single submitter Inborn genetic diseases ⚠
- p.Pro11Ser Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Pro250Ser Single submitter Inborn genetic diseases ⚠
- p.Pro274Leu Single submitter Inborn genetic diseases ⚠
- p.Pro66Ser Single submitter Inborn genetic diseases ⚠
- p.Ser196Leu Single submitter Inborn genetic diseases ⚠
- p.Ser409Thr Single submitter Inborn genetic diseases ⚠
- p.Thr137Lys Single submitter Inborn genetic diseases ⚠
- p.Thr167Asn Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Thr372Arg Single submitter BCKDK-related disorder ⚠
- p.Thr372Met Single submitter ⚠
- p.Thr73Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr188Cys Single submitter branched-chain keto acid dehydrogenase kinase deficiency ⚠
- p.Val235Leu Single submitter Inborn genetic diseases ⚠
- p.Val235Met Single submitter Inborn genetic diseases ⚠
- p.Val299Gly Single submitter Inborn genetic diseases ⚠