GFM1 — 983 ClinVar variants
All ClinVar germline GFM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →
51 Pathogenic · 45 Pathogenic/Likely pathogenic · 98 Likely pathogenic · 46 Conflicting · 56 Benign · 16 Benign/Likely benign · 438 Likely benign · 233 Uncertain significance
Full GFM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 203
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.
-
GFM1 p.Arg608Gln
Pathogenic/Likely pathogenic
Multiple submitters
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GFM1 p.Ala19Val
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Arg670Gln
Conflicting
Single submitter
Inborn genetic diseases
-
GFM1 p.Asn115Ser
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Asp83Val
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Cys723Arg
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Gln152Pro Conflicting Single submitter
-
GFM1 p.Glu208Lys
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ile223Val
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Leu398Pro
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Lys710Arg
Conflicting
Single submitter
Inborn genetic diseases
-
GFM1 p.Met715Val
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Pro318Ser
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Pro457Ser Conflicting Single submitter
-
GFM1 p.Ser373Asn
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Thr486Ile
Conflicting
Single submitter
Inborn genetic diseases
- GFM1 p.Thr528Ile Conflicting Single submitter
-
GFM1 p.Trp30Cys
Conflicting
Single submitter
Inborn genetic diseases
- GFM1 p.Trp30Gly Conflicting Single submitter
-
GFM1 p.Val125Met
Conflicting
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Predictors lean, ClinVar uncertain 149
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GFM1 p.Ala300Thr Uncertain significance Multiple submitters
-
GFM1 p.Ala74Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFM1 p.Arg164Cys Uncertain significance Multiple submitters
- GFM1 p.Arg164His Uncertain significance Multiple submitters
-
GFM1 p.Arg221Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Arg364Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Arg372Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFM1 p.Arg400Pro Uncertain significance Multiple submitters
-
GFM1 p.Arg472Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFM1 p.Arg526Gln Uncertain significance Multiple submitters
-
GFM1 p.Asp477Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Cys418Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Glu490Lys
Uncertain significance
Multiple submitters
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Gly469Asp
Uncertain significance
Multiple submitters
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Gly632Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Ile529Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Leu310Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Leu378Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Lys580Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Met405Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Met650Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFM1 p.Pro168Ser Uncertain significance Multiple submitters
-
GFM1 p.Pro515Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GFM1 p.Trp23Arg Uncertain significance Multiple submitters
-
GFM1 p.Ala10Ser
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ala184Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Ala327Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Ala633Pro
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ala656Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Ala6Pro Uncertain significance Single submitter
-
GFM1 p.Ala738Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Arg136Gly Uncertain significance Single submitter
-
GFM1 p.Arg136Ser
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Arg234Gln
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Arg394Trp
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Arg397Trp Uncertain significance Single submitter
-
GFM1 p.Arg47Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Arg628Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Asn210Asp Uncertain significance Single submitter
-
GFM1 p.Asn43Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Asp311His
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Asp408Tyr Uncertain significance Single submitter
-
GFM1 p.Asp462Gly
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Asp613Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Asp683Asn Uncertain significance Single submitter
-
GFM1 p.Asp90Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Asp90His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Cys256Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Cys33Arg Uncertain significance Single submitter
-
GFM1 p.Cys594Tyr
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Gln103Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Gln24His Uncertain significance Single submitter
-
GFM1 p.Gln27Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Glu130Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Glu252Lys
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Glu322Lys Uncertain significance Single submitter
- GFM1 p.Glu332Asp Uncertain significance Single submitter
- GFM1 p.Glu44Lys Uncertain significance Single submitter
- GFM1 p.Glu487Asp Uncertain significance Single submitter
- GFM1 p.Glu527Asp Uncertain significance Single submitter
-
GFM1 p.Glu527Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Glu562Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Gly209Asp Uncertain significance Single submitter
-
GFM1 p.Gly227Arg
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Gly236Asp Uncertain significance Single submitter
-
GFM1 p.Gly422Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Gly495Ala Uncertain significance Single submitter
-
GFM1 p.His672Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Ile203Val
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Ile273Val Uncertain significance Single submitter
-
GFM1 p.Ile328Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Ile384Thr
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ile444Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Ile453Arg Uncertain significance Single submitter
-
GFM1 p.Ile517Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Ile51Met Uncertain significance Single submitter
-
GFM1 p.Ile51Ser
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Ile675Met Uncertain significance Single submitter
- GFM1 p.Leu145Phe Uncertain significance Single submitter
- GFM1 p.Leu21Pro Uncertain significance Single submitter
-
GFM1 p.Leu314Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Leu378Pro Uncertain significance Single submitter
- GFM1 p.Leu638Phe Uncertain significance Single submitter
- GFM1 p.Lys112Arg Uncertain significance Single submitter
-
GFM1 p.Lys380Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Lys468Arg Uncertain significance Single submitter
-
GFM1 p.Lys59Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Lys746Glu Uncertain significance Single submitter
-
GFM1 p.Met179Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Met205Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Met267Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Met405Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Met455Val Uncertain significance Single submitter
-
GFM1 p.Met496Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Met618Val
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Met650Thr Uncertain significance Single submitter
- GFM1 p.Met76Ile Uncertain significance Single submitter
- GFM1 p.Met89Val Uncertain significance Single submitter
-
GFM1 p.Phe127Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Phe211Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Pro18Leu Uncertain significance Single submitter
-
GFM1 p.Pro294Leu
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Pro534Ser Uncertain significance Single submitter
- GFM1 p.Pro598Ser Uncertain significance Single submitter
-
GFM1 p.Pro722Leu
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Ser181Pro Uncertain significance Single submitter
- GFM1 p.Ser346Asn Uncertain significance Single submitter
- GFM1 p.Ser52Leu Uncertain significance Single submitter
- GFM1 p.Ser576Thr Uncertain significance Single submitter
- GFM1 p.Ser600Cys Uncertain significance Single submitter
- GFM1 p.Ser605Cys Uncertain significance Single submitter
-
GFM1 p.Thr107Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Thr432Ala Uncertain significance Single submitter
- GFM1 p.Tyr165Cys Uncertain significance Single submitter
- GFM1 p.Tyr316His Uncertain significance Single submitter
-
GFM1 p.Tyr512Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Val354Ile Uncertain significance Single submitter
- GFM1 p.Val450Ile Uncertain significance Single submitter
- GFM1 p.Val681Leu Uncertain significance Single submitter
-
GFM1 p.Ala10Thr
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ala245Glu
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ala531Val
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ala74Gly
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Arg671Leu
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Asn461Lys
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Asp139Glu
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Cys418Tyr
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Gln636Leu
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Gly206Cys
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Gly422Asp
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.His445Asn
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.His672Gln
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ile100Met
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ile129Val
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Leu342Val
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Leu499Phe
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Leu646Phe Uncertain significance No assertion criteria
-
GFM1 p.Lys45Asn
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Met179Val
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Met267Ile
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Phe626Val
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Ser36Phe
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Trp23Cys
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Tyr684Cys
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Val233Ile
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Val306Ala
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Val681Ala
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Val691Ile
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Val88Ile
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Predictors split 34
The independent predictors disagree with each other — read with care.
-
GFM1 p.Ala199Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Ala419Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Arg160His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Arg400Cys
Uncertain significance
Multiple submitters
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Arg400His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Ser192Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Thr739Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Thr739Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Tyr235Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GFM1 p.Arg250Gln
Conflicting
Single submitter
Relative macrocephaly
-
GFM1 p.Arg284Gln
Uncertain significance
Single submitter
GFM1-related disorder
- GFM1 p.Asn259Ser Conflicting Single submitter
- GFM1 p.Asp311Asn Uncertain significance Single submitter
- GFM1 p.Asp462Asn Uncertain significance Single submitter
-
GFM1 p.Asp536His
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.His539Asn Uncertain significance Single submitter
- GFM1 p.His616Gln Uncertain significance Single submitter
- GFM1 p.Ile214Phe Uncertain significance Single submitter
-
GFM1 p.Ile218Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Ile46Lys Uncertain significance Single submitter
-
GFM1 p.Leu724Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Lys80Glu Uncertain significance Single submitter
-
GFM1 p.Met401Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Phe466Leu
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- GFM1 p.Pro239Ser Uncertain significance Single submitter
- GFM1 p.Pro534Leu Uncertain significance Single submitter
-
GFM1 p.Pro584Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GFM1 p.Pro725Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Ser275Leu Uncertain significance Single submitter
-
GFM1 p.Ser277Phe
Uncertain significance
Single submitter
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Thr474Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GFM1 p.Tyr504Cys Uncertain significance Single submitter
-
GFM1 p.Phe574Leu
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
-
GFM1 p.Pro457Thr
Uncertain significance
No assertion criteria
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
All GFM1 variants
Pathogenic 51
- c.1765-2_1765-1del Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg47Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Glu241fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly180fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Phe626fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1765-1G>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala286fs Single submitter
- p.Ala524Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg221Ter Single submitter
- p.Arg390fs Single submitter
- p.Asn174fs Single submitter
- p.Asp485Ter Single submitter
- p.Asp690fs Single submitter
- p.Cys516Arg Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln202Ter Single submitter
- p.Gln231Ter Single submitter
- p.Gln542fs Single submitter
- p.Gln548Ter Single submitter
- p.Gln612Ter Single submitter
- p.Glu266Ter Single submitter
- p.Glu442Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Glu490fs Single submitter
- p.Gly305fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly366fs Single submitter
- p.Gly376Ter Single submitter
- p.Gly469fs Single submitter
- p.Gly545fs Single submitter
- p.Gly99Ter Single submitter
- p.Ile218fs Single submitter
- p.Ile46fs Single submitter
- p.Leu309_Leu310insTer Single submitter
- p.Leu62Ter Single submitter
- p.Leu687_Tyr688insTer Single submitter
- p.Lys163fs Single submitter
- p.Lys465Ter Single submitter
- p.Lys489fs Single submitter
- p.Met205fs Single submitter
- p.Met343fs Single submitter
- p.Met406fs Single submitter
- p.Pro449fs Single submitter
- p.Ser467fs Single submitter
- p.Ser625fs Single submitter
- p.Thr339fs Single submitter
- p.Thr530fs Single submitter
- p.Thr573fs Single submitter
- p.Trp111Ter Single submitter
- p.Tyr413Ter Single submitter
- p.Tyr504fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Tyr512Ter Single submitter
- p.Val257fs Single submitter
- p.Val492fs Single submitter
Pathogenic/Likely pathogenic 45
- c.1765-2A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.689+908G>A Multiple submitters GFM1-related disorders
- c.690_693del Multiple submitters GFM1-related disorder
- p.Ala19fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala246_His249delinsTer Multiple submitters GFM1-related disorders
- p.Arg178Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg234Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg250Trp Multiple submitters GFM1-related disorders
- p.Arg284Ter Multiple submitters GFM1-related disorders
- p.Arg34Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg364Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg475fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg526Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg608Gln Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Arg628Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg65Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg670Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg671Cys Multiple submitters GFM1-related disorders
- p.Asn325fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asp433fs Multiple submitters GFM1-related disorders
- p.Asp83fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln103Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln263Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln396Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Glu509Ter Multiple submitters GFM1-related disorder
- p.Glu511fs Multiple submitters GFM1-related disorders
- p.Gly230Ser Multiple submitters GFM1-related disorder
- p.Gly495Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly99fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ile102fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ile273fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ile384_Thr387del Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu242Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu297fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu310fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu611fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Lys391fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Met92fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Pro532fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ser427fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ser57Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Trp23Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Trp30fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val142fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val533fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Likely pathogenic 98
- c.1380+1G>A Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1380+1G>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1764+2T>C Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1910-1G>A Multiple submitters Inborn genetic diseases
- c.1910-2A>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.2070+1G>A Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.368-2A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.689+1G>A Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.81+1G>A Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.997_998+2del Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.999-1G>A Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg136fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg96fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn174Ser Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln506Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln661Ter Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Lys304Glu Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ser600fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val137Met Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1083+1G>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1084-1G>A Single submitter
- c.1084-2A>G Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1221+1G>A Single submitter
- c.1324-2A>G Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1380+1G>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1380+2T>G Single submitter
- c.1381-1G>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1518+1G>A Single submitter GFM1-related disorders
- c.1519-1G>C Single submitter
- c.1601+1G>A Single submitter
- c.1602-2del Single submitter
- c.1764+1G>T Single submitter GFM1-related disorder
- c.1909+2T>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.2070+1G>T Single submitter
- c.2071-1G>C Single submitter
- c.2125-1G>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.234+1G>T Single submitter
- c.235-1G>A Single submitter
- c.367+1G>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.368-1G>C Single submitter
- c.368-2A>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.572+1G>A Single submitter
- c.573-2A>G Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.689+2del Single submitter
- c.689+2T>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.689+853del Single submitter GFM1-related disorders
- c.82-2A>C Single submitter
- c.840+1del Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.841-168_844delinsCTTTCTTCTT Single submitter
- c.841-520_878del Single submitter
- c.998+1G>A Single submitter
- c.998+1G>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.998+2T>G Single submitter
- c.999-1G>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala17fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala435fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala53fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala641Glu Single submitter
- p.Ala651fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg250fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg372fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg394Gln Single submitter
- p.Arg510fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn159fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn303fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn319fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn330fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn349fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn386fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asp333fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asp382fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Cys256fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Cys425fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Cys516Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln24Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln636fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln636Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Glu132Ala Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly209fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly213fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu176Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu194fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu310Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Met496Arg Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Phe127fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Phe172fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Phe473fs Single submitter GFM1-related disorders
- p.Phe480fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Pro183fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ser346fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ser576Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Thr121fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Tyr108Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Tyr235Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Tyr68Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Tyr699Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val137fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val40fs Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Conflicting classifications of pathogenicity 46
- c.1083+3A>G Single submitter Inborn genetic diseases
- c.1221+20G>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1324-15T>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1519-10C>G Single submitter
- c.234+12C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.235-14G>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.573-1G>C Single submitter Leigh syndrome
- c.690-5C>G Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.81+5C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.-38C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala19Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Arg250Gln Single submitter Relative macrocephaly ⚠
- p.Arg608Trp Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg65= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg670Gln Single submitter Inborn genetic diseases ⚠
- p.Asn115Ser Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asn344= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn461= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asp448Gly Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asp730= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asp83Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Cys723Arg Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Gln152Pro Single submitter ⚠
- p.Gln542= Single submitter
- p.Glu208Lys Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Glu498= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly39_Val40insTer Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ile223Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ile624= Single submitter
- p.Leu329= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Leu398Pro Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Leu611= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Lys710Arg Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Met715Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Pro318Ser Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Pro457Ser Single submitter ⚠
- p.Ser277fs Single submitter GFM1-related disorders
- p.Ser299= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ser373Asn Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Thr486Ile Single submitter Inborn genetic diseases ⚠
- p.Thr528Ile Single submitter ⚠
- p.Trp30Cys Single submitter Inborn genetic diseases ⚠
- p.Trp30Gly Single submitter ⚠
- p.Val125Met Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
Benign 56
- c.1083+57C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1083+82T>C Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1323+72A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1323+83A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1519-25A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1601+38A>G Multiple submitters
- c.1601+9G>C Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1602-17dup Multiple submitters
- c.234+187A>G Multiple submitters
- c.368-18A>G Multiple submitters
- c.689+200A>G Multiple submitters
- c.689+611A>G Multiple submitters
- c.690-87A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.690-96T>A Multiple submitters
- c.81+22A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.81+84C>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.-31A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.-33C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.-386G>T Multiple submitters
- c.*226C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*691T>A Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*6C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala403= Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn159Ser Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Lys26Arg Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val215Ile Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1222-3del Single submitter
- c.1222-3dup Single submitter
- c.1324-15del Single submitter
- c.1324-267G>A Single submitter
- c.1324-9dup Single submitter
- c.1380+221T>A Single submitter
- c.1519-16dup Single submitter
- c.1519-211T>C Single submitter
- c.1764+16del Single submitter
- c.1765-298A>G Single submitter
- c.2125-22_2125-20del Single submitter
- c.2125-26dup Single submitter
- c.367+223C>T Single submitter
- c.368-199G>A Single submitter
- c.689+1211A>C Single submitter
- c.690-262del Single submitter
- c.81+281_81+283del Single submitter
- c.81+282_81+283del Single submitter
- c.81+283del Single submitter
- c.82-4del Single submitter
- c.82-4dup Single submitter
- c.841-224C>T Single submitter
- c.998+150G>A Single submitter
- c.998+302dup Single submitter
- c.999-221A>T Single submitter
- c.999-4dup Single submitter
- c.*713C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*731C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*766G>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.His672= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Benign/Likely benign 16
- c.1083+6T>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1764+11A>T Multiple submitters
- c.1909+13C>G Multiple submitters
- c.1909+13C>T Multiple submitters
- c.1910-8del Multiple submitters
- c.2070+11T>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.2071-17A>G Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.2071-20T>C Multiple submitters
- c.2125-11dup Multiple submitters
- c.689+891C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.-11C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala531= Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn43Asp Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln263Arg Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Met190Leu Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val664Ile Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Likely benign 438
Showing the top 300 by review status; the full set is in the sitemap.
- c.1084-18C>A Multiple submitters
- c.1084-8A>G Multiple submitters
- c.1222-13T>C Multiple submitters
- c.1381-39C>T Multiple submitters
- c.1519-15C>T Multiple submitters
- c.1601+90T>G Multiple submitters
- c.1909+232A>C Multiple submitters
- c.1909+41A>G Multiple submitters
- c.234+17G>A Multiple submitters
- c.234+19T>A Multiple submitters
- c.368-15C>A Multiple submitters
- c.573-18T>C Multiple submitters
- c.689+1184A>G Multiple submitters
- c.81+18G>A Multiple submitters
- c.840+108C>G Multiple submitters
- c.-73C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*116C>T Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala147= Multiple submitters
- p.Ala199= Multiple submitters
- p.Ala74Ser Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Arg98= Multiple submitters
- p.Asn166= Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn459= Multiple submitters
- p.Glu568= Multiple submitters
- p.Glu64= Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly355= Multiple submitters
- p.Ile254= Multiple submitters
- p.Leu281= Multiple submitters
- p.Pro561= Multiple submitters
- p.Ser437= Multiple submitters
- p.Ser543= Multiple submitters
- p.Ser726= Multiple submitters
- p.Tyr235= Multiple submitters
- p.Tyr370= Multiple submitters
- p.Val412= Multiple submitters
- p.Val610= Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1083+10T>A Single submitter
- c.1083+14T>C Single submitter
- c.1083+7T>G Single submitter
- c.1083+8G>A Single submitter
- c.1083+8G>C Single submitter
- c.1083+8G>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1084-13T>C Single submitter
- c.1084-15A>C Single submitter
- c.1084-19dup Single submitter
- c.1084-299A>T Single submitter
- c.1084-7C>T Single submitter
- c.1221+15A>C Single submitter
- c.1221+16T>C Single submitter
- c.1221+203G>A Single submitter
- c.1221+222T>C Single submitter
- c.1221+323T>C Single submitter
- c.1221+8_1221+9del Single submitter
- c.1221+8C>G Single submitter
- c.1221+8C>T Single submitter
- c.1222-10_1222-7del Single submitter
- c.1222-10G>A Single submitter
- c.1222-14_1222-11del Single submitter
- c.1222-14A>G Single submitter
- c.1222-321A>G Single submitter
- c.1222-6T>C Single submitter
- c.1222-7T>G Single submitter
- c.1222-8T>G Single submitter
- c.1222-9T>C Single submitter
- c.1323+9T>C Single submitter
- c.1324-14A>T Single submitter
- c.1324-18T>C Single submitter
- c.1324-20T>C Single submitter
- c.1380+11G>A Single submitter
- c.1380+19G>T Single submitter
- c.1380+7G>C Single submitter
- c.1380+9T>C Single submitter
- c.1381-11T>C Single submitter
- c.1381-13T>C Single submitter
- c.1381-15C>A Single submitter
- c.1381-17T>C Single submitter
- c.1381-17TTC[2] Single submitter
- c.1381-9C>G Single submitter
- c.1518+16_1518+19del Single submitter
- c.1518+7A>G Single submitter
- c.1518+8del Single submitter
- c.1519-10C>T Single submitter
- c.1519-16del Single submitter
- c.1519-19T>C Single submitter
- c.1519-211T>G Single submitter
- c.1519-33A>T Single submitter
- c.1519-6T>C Single submitter
- c.1601+13C>A Single submitter
- c.1601+13C>T Single submitter
- c.1601+16A>C Single submitter
- c.1601+17A>C Single submitter
- c.1601+7A>G Single submitter
- c.1602-14T>A Single submitter
- c.1602-18T>C Single submitter
- c.1602-19_1602-18insC Single submitter
- c.1602-7C>T Single submitter
- c.1602-8_1602-7del Single submitter
- c.1764+17del Single submitter
- c.1764+17G>A Single submitter
- c.1764+18T>C Single submitter
- c.1765-11T>C Single submitter
- c.1765-12A>C Single submitter
- c.1765-20T>C Single submitter
- c.1765-7T>C Single submitter
- c.1765-94C>T Single submitter
- c.1909+10G>A Single submitter
- c.1909+131C>T Single submitter
- c.1909+14G>A Single submitter
- c.1909+16del Single submitter
- c.1909+18A>G Single submitter
- c.1909+20C>T Single submitter
- c.1909+7T>A Single submitter
- c.1909+8G>A Single submitter
- c.1909+9G>C Single submitter
- c.1910-13T>A Single submitter
- c.1910-22_1910-20del Single submitter
- c.1910-4C>T Single submitter
- c.1910-6A>C Single submitter
- c.1910-6del Single submitter
- c.1910-6dup Single submitter
- c.1910-9_1910-8del Single submitter
- c.1910-9T>G Single submitter
- c.2070+10C>G Single submitter
- c.2070+17A>G Single submitter
- c.2070+7A>G Single submitter
- c.2071-10T>C Single submitter
- c.2071-12G>A Single submitter
- c.2071-14_2071-13del Single submitter
- c.2071-16_2071-14del Single submitter
- c.2071-8G>C Single submitter
- c.2124+20C>A Single submitter
- c.2124+20C>G Single submitter
- c.2125-11del Single submitter
- c.2125-17T>C Single submitter
- c.2125-28_2125-17del Single submitter
- c.2125-32_2125-30del Single submitter
- c.2125-4C>A Single submitter
- c.2125-5C>T Single submitter
- c.2125-6C>A Single submitter
- c.2125-7T>C Single submitter
- c.2125-9A>C Single submitter
- c.234+13G>A Single submitter
- c.234+2TA[5] Single submitter
- c.234+7dup Single submitter
- c.235-16C>T Single submitter
- c.235-7T>C Single submitter
- c.235-85G>C Single submitter
- c.235-9dup Single submitter
- c.367+11T>G Single submitter
- c.367+13C>G Single submitter
- c.367+14T>C Single submitter
- c.367+15T>C Single submitter
- c.367+15T>G Single submitter
- c.367+20T>G Single submitter
- c.367+7T>C Single submitter
- c.368-11_368-9del Single submitter
- c.368-12C>A Single submitter
- c.368-13_368-12delinsAA Single submitter
- c.368-14_368-12del Single submitter
- c.368-14T>C Single submitter
- c.368-177G>A Single submitter
- c.368-34T>A Single submitter
- c.368-4T>G Single submitter
- c.368-5T>C Single submitter
- c.368-6A>T Single submitter
- c.572+15A>C Single submitter
- c.572+17T>G Single submitter
- c.572+7A>G Single submitter
- c.572+9C>A Single submitter
- c.572+9C>T Single submitter
- c.573-13T>C Single submitter
- c.573-17G>A Single submitter
- c.573-18T>A Single submitter
- c.689+14A>C Single submitter
- c.689+20T>G Single submitter
- c.689+8C>T Single submitter
- c.690-11del Single submitter
- c.690-13T>C Single submitter
- c.690-14A>G Single submitter
- c.690-17A>G Single submitter
- c.690-18A>G Single submitter
- c.690-19A>G Single submitter
- c.690-40G>A Single submitter
- c.690-7T>C Single submitter
- c.81+10C>T Single submitter
- c.81+11A>G Single submitter
- c.81+12T>C Single submitter
- c.81+13A>G Single submitter
- c.81+17A>G Single submitter
- c.81+19G>T Single submitter
- c.81+283dup Single submitter
- c.81+7G>C Single submitter
- c.82-118A>G Single submitter
- c.82-11A>G Single submitter
- c.82-13G>A Single submitter
- c.82-13G>T Single submitter
- c.82-14C>G Single submitter
- c.82-14C>T Single submitter
- c.82-15T>G Single submitter
- c.82-16C>G Single submitter
- c.82-16C>T Single submitter
- c.82-18C>T Single submitter
- c.82-198G>A Single submitter
- c.840+10T>C Single submitter
- c.840+12C>T Single submitter
- c.840+17T>G Single submitter
- c.840+317T>C Single submitter
- c.840+8C>T Single submitter
- c.841-10T>G Single submitter
- c.841-4G>A Single submitter
- c.841-9C>A Single submitter
- c.998+10G>A Single submitter
- c.998+15T>C Single submitter
- c.998+20T>C Single submitter
- c.998+7C>T Single submitter
- c.998+8T>G Single submitter
- c.999-19A>G Single submitter
- c.999-7T>C Single submitter
- c.999-8A>C Single submitter
- c.999-9T>A Single submitter
- c.-25C>T Single submitter
- c.*539C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*9A>G Single submitter
- p.Ala10= Single submitter
- p.Ala106= Single submitter
- p.Ala134= Single submitter
- p.Ala17= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala184= Single submitter
- p.Ala186= Single submitter
- p.Ala222= Single submitter
- p.Ala240= Single submitter
- p.Ala244= Single submitter
- p.Ala244Val Single submitter
- p.Ala245= Single submitter
- p.Ala246= Single submitter
- p.Ala258= Single submitter
- p.Ala300= Single submitter
- p.Ala327= Single submitter
- p.Ala414= Single submitter
- p.Ala419= Single submitter
- p.Ala435= Single submitter
- p.Ala454= Single submitter
- p.Ala6= Single submitter
- p.Ala637= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala639= Single submitter
- p.Ala666= Single submitter
- p.Ala7= Single submitter
- p.Ala749= Single submitter
- p.Arg136= Single submitter
- p.Arg234= Single submitter
- p.Arg250= Single submitter
- p.Arg25Gly Single submitter Inborn genetic diseases
- p.Arg284= Single submitter
- p.Arg34= Single submitter
- p.Arg372= Single submitter
- p.Arg390= Single submitter
- p.Arg394= Single submitter
- p.Arg47= Single submitter
- p.Arg472= Single submitter
- p.Arg671= Single submitter
- p.Arg671His Single submitter
- p.Arg704= Single submitter
- p.Arg72= Single submitter
- p.Asn29= Single submitter
- p.Asn325= Single submitter
- p.Asn330= Single submitter
- p.Asn330Asp Single submitter
- p.Asn349Ser Single submitter Inborn genetic diseases
- p.Asn436= Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asn577= Single submitter
- p.Asn694= Single submitter
- p.Asp120= Single submitter
- p.Asp228= Single submitter
- p.Asp248= Single submitter
- p.Asp311= Single submitter
- p.Asp404= Single submitter
- p.Asp429= Single submitter
- p.Asp433= Single submitter
- p.Asp56= Single submitter
- p.Asp83= Single submitter
- p.Cys153= Single submitter
- p.Cys594= Single submitter
- p.Gln251= Single submitter
- p.Gln263= Single submitter
- p.Gln367= Single submitter
- p.Gln396= Single submitter
- p.Gln663= Single submitter
- p.Gln678= Single submitter
- p.Gln721= Single submitter
- p.Gln728= Single submitter
- p.Gln97= Single submitter
- p.Glu219= Single submitter
- p.Glu315= Single submitter
- p.Glu332= Single submitter
- p.Glu442= Single submitter
- p.Glu490= Single submitter
- p.Glu562= Single submitter
- p.Glu572= Single submitter
- p.Glu631= Single submitter
- p.Glu93= Single submitter
Uncertain significance 233
- c.689+887G>A Multiple submitters
- p.Ala199Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala300Thr Multiple submitters ⚠
- p.Ala419Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala74Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg160His Multiple submitters Inborn genetic diseases ⚠
- p.Arg164Cys Multiple submitters ⚠
- p.Arg164His Multiple submitters ⚠
- p.Arg221Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg364Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg372Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg400Cys Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Arg400His Multiple submitters Inborn genetic diseases ⚠
- p.Arg400Pro Multiple submitters ⚠
- p.Arg472Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg526Gln Multiple submitters ⚠
- p.Asp462Tyr Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Asp477Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys418Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu442Gln Multiple submitters Inborn genetic diseases
- p.Glu490Lys Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Gly469Asp Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Gly632Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly747fs Multiple submitters hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ile529Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu310Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu378Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys580Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met405Val Multiple submitters Inborn genetic diseases ⚠
- p.Met650Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro168Ser Multiple submitters ⚠
- p.Pro515Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser192Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Thr739Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr739Pro Multiple submitters Inborn genetic diseases ⚠
- p.Trp23Arg Multiple submitters ⚠
- p.Tyr235Asn Multiple submitters Inborn genetic diseases ⚠
- c.1323+5G>A Single submitter
- c.1601+3A>T Single submitter
- c.1764+5A>T Single submitter
- c.1765-3C>T Single submitter
- c.2070+3A>G Single submitter
- c.234+3A>G Single submitter
- c.367+3G>A Single submitter
- c.690-16A>G Single submitter
- c.81+3A>G Single submitter
- c.840+4A>G Single submitter
- c.998+5G>A Single submitter
- c.-66C>G Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.-85C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*1004T>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*1033A>G Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*119G>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*164C>A Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*245A>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*429C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*559T>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*572A>G Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*578C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*635A>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*803T>C Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.*950C>T Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala10Ser Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ala184Val Single submitter Inborn genetic diseases ⚠
- p.Ala199Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala327Gly Single submitter Inborn genetic diseases ⚠
- p.Ala403Thr Single submitter Inborn genetic diseases
- p.Ala633Pro Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ala656Val Single submitter Inborn genetic diseases ⚠
- p.Ala6Pro Single submitter ⚠
- p.Ala738Thr Single submitter Inborn genetic diseases ⚠
- p.Arg136Gly Single submitter ⚠
- p.Arg136Ser Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Arg234Gln Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Arg284Gln Single submitter GFM1-related disorder ⚠
- p.Arg394Trp Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Arg397Trp Single submitter ⚠
- p.Arg47Gln Single submitter Inborn genetic diseases ⚠
- p.Arg628Gln Single submitter Inborn genetic diseases ⚠
- p.Arg719Gly Single submitter GFM1-related disorder
- p.Asn210Asp Single submitter ⚠
- p.Asn43Ser Single submitter Inborn genetic diseases ⚠
- p.Asp311Asn Single submitter ⚠
- p.Asp311His Single submitter Inborn genetic diseases ⚠
- p.Asp348Val Single submitter
- p.Asp408Tyr Single submitter ⚠
- p.Asp462Asn Single submitter ⚠
- p.Asp462Gly Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Asp536His Single submitter Inborn genetic diseases ⚠
- p.Asp613Val Single submitter Inborn genetic diseases ⚠
- p.Asp683Asn Single submitter ⚠
- p.Asp90Asn Single submitter Inborn genetic diseases ⚠
- p.Asp90His Single submitter Inborn genetic diseases ⚠
- p.Cys256Arg Single submitter Inborn genetic diseases ⚠
- p.Cys33Arg Single submitter ⚠
- p.Cys594Tyr Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Cys706Ter Single submitter
- p.Gln103Arg Single submitter Inborn genetic diseases ⚠
- p.Gln24His Single submitter ⚠
- p.Gln27Arg Single submitter Inborn genetic diseases ⚠
- p.Glu130Gln Single submitter Inborn genetic diseases ⚠
- p.Glu252Lys Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Glu322Lys Single submitter ⚠
- p.Glu332Asp Single submitter ⚠
- p.Glu44Lys Single submitter ⚠
- p.Glu487Asp Single submitter ⚠
- p.Glu527Asp Single submitter ⚠
- p.Glu527Lys Single submitter Inborn genetic diseases ⚠
- p.Glu562Gln Single submitter Inborn genetic diseases ⚠
- p.Gly209Asp Single submitter ⚠
- p.Gly227Arg Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Gly236Asp Single submitter ⚠
- p.Gly422Val Single submitter Inborn genetic diseases ⚠
- p.Gly495Ala Single submitter ⚠
- p.His539Asn Single submitter ⚠
- p.His616Gln Single submitter ⚠
- p.His672Arg Single submitter Inborn genetic diseases ⚠
- p.Ile203Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ile214Phe Single submitter ⚠
- p.Ile218Thr Single submitter Inborn genetic diseases ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile328Val Single submitter Inborn genetic diseases ⚠
- p.Ile384Thr Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ile444Thr Single submitter Inborn genetic diseases ⚠
- p.Ile453Arg Single submitter ⚠
- p.Ile46Lys Single submitter ⚠
- p.Ile517Thr Single submitter Inborn genetic diseases ⚠
- p.Ile51Met Single submitter ⚠
- p.Ile51Ser Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ile675Met Single submitter ⚠
- p.Leu145Phe Single submitter ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu314Val Single submitter Inborn genetic diseases ⚠
- p.Leu360Met Single submitter
- p.Leu378Pro Single submitter ⚠
- p.Leu638Phe Single submitter ⚠
- p.Leu724Phe Single submitter Inborn genetic diseases ⚠
- p.Lys112Arg Single submitter ⚠
- p.Lys380Glu Single submitter Inborn genetic diseases ⚠
- p.Lys468Arg Single submitter ⚠
- p.Lys59Glu Single submitter Inborn genetic diseases ⚠
- p.Lys746Glu Single submitter ⚠
- p.Lys80Glu Single submitter ⚠
- p.Met179Thr Single submitter Inborn genetic diseases ⚠
- p.Met205Thr Single submitter Inborn genetic diseases ⚠
- p.Met267Val Single submitter Inborn genetic diseases ⚠
- p.Met401Val Single submitter Inborn genetic diseases ⚠
- p.Met405Thr Single submitter Inborn genetic diseases ⚠
- p.Met455Val Single submitter ⚠
- p.Met496Val Single submitter Inborn genetic diseases ⚠
- p.Met618Val Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Met650Thr Single submitter ⚠
- p.Met76Ile Single submitter ⚠
- p.Met89Val Single submitter ⚠
- p.Phe127Leu Single submitter Inborn genetic diseases ⚠
- p.Phe211Leu Single submitter Inborn genetic diseases ⚠
- p.Phe466Leu Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro239Ser Single submitter ⚠
- p.Pro294Leu Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Pro534Leu Single submitter ⚠
- p.Pro534Ser Single submitter ⚠
- p.Pro584Leu Single submitter Inborn genetic diseases ⚠
- p.Pro598Ser Single submitter ⚠
- p.Pro722Leu Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Pro725Leu Single submitter Inborn genetic diseases ⚠
- p.Ser181Pro Single submitter ⚠
- p.Ser275Leu Single submitter ⚠
- p.Ser277Phe Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ser321Pro Single submitter
- p.Ser346Asn Single submitter ⚠
- p.Ser52Leu Single submitter ⚠
- p.Ser576Thr Single submitter ⚠
- p.Ser600Cys Single submitter ⚠
- p.Ser605Cys Single submitter ⚠
- p.Ser605Phe Single submitter
- p.Thr107Ala Single submitter Inborn genetic diseases ⚠
- p.Thr432Ala Single submitter ⚠
- p.Thr474Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr165Cys Single submitter ⚠
- p.Tyr316His Single submitter ⚠
- p.Tyr504Cys Single submitter ⚠
- p.Tyr512Phe Single submitter Inborn genetic diseases ⚠
- p.Val354Ile Single submitter ⚠
- p.Val450Ile Single submitter ⚠
- p.Val681Leu Single submitter ⚠
- c.1380+6A>G No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.1602-5T>G No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.2071-17_2071-9del No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.2124+7A>T No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.690-6T>G No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- c.81+6G>C No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ala10Thr No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ala245Glu No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ala531Val No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ala74Gly No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Arg671Leu No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Asn461Lys No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Asp139Glu No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Cys418Tyr No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Gln24= No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gln636Leu No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Glu93Gln No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly206Cys No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Gly376= No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Gly422Asp No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Gly575= No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.His445Asn No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.His672Gln No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ile100Met No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ile129Val No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Leu342Val No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Leu499Phe No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Leu646Phe No assertion criteria ⚠
- p.Lys45Asn No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Lys481= No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Lys596= No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Met179Val No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Met267Ile No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Phe574Leu No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Phe626Val No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Pro457Thr No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Ser275= No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Ser36Phe No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Trp23Cys No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Tyr413= No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Tyr684Cys No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Val233Ile No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Val306Ala No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Val412Leu No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- p.Val681Ala No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Val691Ile No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠
- p.Val88Ile No assertion criteria hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ⚠