Sugi Variant

Sugi Variant/TRMU

TRMU — 813 ClinVar variants

All ClinVar germline TRMU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

40 Pathogenic · 29 Pathogenic/Likely pathogenic · 88 Likely pathogenic · 43 Conflicting · 48 Benign · 12 Benign/Likely benign · 366 Likely benign · 187 Uncertain significance

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

⚑ Evidence disagreements 166

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

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

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 115

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

Predictors split 36

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

All TRMU variants

Pathogenic 40

Pathogenic/Likely pathogenic 29

  • c.248+1G>A Multiple submitters TRMU-related disorder
  • c.706-2A>G Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ala268fs Multiple submitters deafness, aminoglycoside-induced
  • p.Arg154fs Multiple submitters deafness, aminoglycoside-induced
  • p.Arg227Thr Multiple submitters deafness, aminoglycoside-induced ⚠
  • p.Arg294fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Arg332Ter Multiple submitters deafness, aminoglycoside-induced
  • p.Arg59fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Asn153fs Multiple submitters deafness, aminoglycoside-induced
  • p.Asn269fs Multiple submitters
  • p.Asn87fs Multiple submitters deafness, aminoglycoside-induced
  • p.Asp349fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln182Ter Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln235Ter Multiple submitters deafness, aminoglycoside-induced
  • p.Gln238fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln2Ter Multiple submitters deafness, aminoglycoside-induced
  • p.Gly194fs Multiple submitters TRMU-related disorder
  • p.Gly28fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Leu133fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Met1Arg Multiple submitters TRMU-related disorder
  • p.Met1Thr Multiple submitters
  • p.Phe35fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Pro276fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Thr355fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Trp78Ter Multiple submitters deafness, aminoglycoside-induced
  • p.Tyr236fs Multiple submitters deafness, aminoglycoside-induced
  • p.Tyr29Ter Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Tyr58Ter Multiple submitters deafness, aminoglycoside-induced
  • p.Tyr77His Multiple submitters TRMU-related disorder

Likely pathogenic 88

  • c.1019-1G>A Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.1019-2_1023del Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.1102-3C>G Multiple submitters TRMU-related disorder
  • c.249-2A>G Multiple submitters TRMU-related disorder
  • c.355+1G>C Multiple submitters deafness, aminoglycoside-induced
  • c.355+1G>T Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.356-2_356-1del Multiple submitters deafness, aminoglycoside-induced
  • c.478+1G>A Multiple submitters deafness, aminoglycoside-induced
  • c.652-2A>G Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.772+2T>G Multiple submitters deafness, aminoglycoside-induced
  • c.83-2A>G Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.874-2A>G Multiple submitters deafness, aminoglycoside-induced
  • p.Ala362Thr Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Arg332fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Asn96Ser Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Gln367Ter Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Glu275fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Leu233Phe Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Leu253Pro Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Phe82Val Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ser218Ile Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Thr295fs Multiple submitters deafness, aminoglycoside-induced
  • p.Tyr301Ter Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.1017_1018+6del Single submitter
  • c.1018+1G>A Single submitter
  • c.1019-25_1038del Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.1019-31_1027del Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.1085_1101+7del Single submitter deafness, aminoglycoside-induced
  • c.1101+1G>A Single submitter deafness, aminoglycoside-induced
  • c.1101+1G>C Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.1102-22_1130del Single submitter deafness, aminoglycoside-induced
  • c.1103_1109del Single submitter deafness, aminoglycoside-induced
  • c.248+1G>T Single submitter deafness, aminoglycoside-induced
  • c.249-2A>C Single submitter deafness, aminoglycoside-induced
  • c.355_355+1delinsTT Single submitter
  • c.355+1G>A Single submitter
  • c.355+2T>C Single submitter
  • c.356-2del Single submitter deafness, aminoglycoside-induced
  • c.479-1G>A Single submitter deafness, aminoglycoside-induced
  • c.651+1G>T Single submitter
  • c.705+1G>T Single submitter
  • c.773-1G>C Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.773-2A>G Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.82+1G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.83-2A>C Single submitter
  • c.873+1G>C Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.873+2T>G Single submitter deafness, aminoglycoside-induced
  • c.874-1G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.874-1G>C Single submitter deafness, aminoglycoside-induced
  • c.874-2A>C Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ala10fs Single submitter deafness, aminoglycoside-induced
  • p.Arg309fs Single submitter deafness, aminoglycoside-induced
  • p.Asn102Asp Single submitter ⚠
  • p.Asp172fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln165Ter Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln173Ter Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln179fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln214Ter Single submitter
  • p.Gln30fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln358Ter Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Glu198fs Single submitter deafness, aminoglycoside-induced
  • p.Glu217Lys Single submitter ⚠
  • p.Gly366fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.His127fs Single submitter deafness, aminoglycoside-induced
  • p.Ile189fs Single submitter deafness, aminoglycoside-induced
  • p.Ile224Ser Single submitter Inborn genetic diseases
  • p.Ile247fs Single submitter deafness, aminoglycoside-induced
  • p.Leu11fs Single submitter deafness, aminoglycoside-induced
  • p.Lys197fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Lys216fs Single submitter deafness, aminoglycoside-induced
  • p.Lys226_Arg227insTer Single submitter deafness, aminoglycoside-induced
  • p.Lys226fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Met221fs Single submitter deafness, aminoglycoside-induced
  • p.Phe290fs Single submitter deafness, aminoglycoside-induced
  • p.Phe82Leu Single submitter
  • p.Ser72Phe Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Thr174Ile Single submitter deafness, aminoglycoside-induced
  • p.Trp259Ter Single submitter deafness, aminoglycoside-induced
  • p.Trp277Ter Single submitter deafness, aminoglycoside-induced
  • p.Tyr278fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Tyr73Ter Single submitter deafness, aminoglycoside-induced
  • p.Tyr77Ter Single submitter deafness, aminoglycoside-induced
  • p.Val138_Phe139insTer Single submitter deafness, aminoglycoside-induced
  • p.Val180Phe Single submitter
  • p.Val291fs Single submitter deafness, aminoglycoside-induced
  • p.Val343fs Single submitter deafness, aminoglycoside-induced
  • p.Val370Met Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Leu420fs No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Conflicting classifications of pathogenicity 43

  • c.1018+9C>T Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.248+9_248+18del Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.651+4C>T Single submitter
  • c.651+9G>A Single submitter
  • c.652-6_652-2del Single submitter TRMU-related disorder
  • c.705+10del Single submitter
  • c.705+10G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.772+8G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.773-12_773-9del Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.773-4G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.83-4G>A Single submitter
  • c.873+11C>T Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.873+12G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.-15T>C Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.-19G>C Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ala319fs Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ala369Val Single submitter Inborn genetic diseases ⚠
  • p.Arg361His Single submitter Inborn genetic diseases ⚠
  • p.Arg398His Single submitter ⚠
  • p.Asn117= Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Asp183Glu Single submitter ⚠
  • p.Asp80Asn Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Gln358_Val360dup Single submitter deafness, aminoglycoside-induced
  • p.Gly193= Single submitter
  • p.Gly220= Single submitter
  • p.Gly33= Single submitter
  • p.Gly379Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly381Glu Single submitter deafness, aminoglycoside-induced ⚠
  • p.Gly416Cys Single submitter Inborn genetic diseases ⚠
  • p.His143= Single submitter
  • p.His6= Single submitter
  • p.Ile99Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe176del Single submitter deafness, aminoglycoside-induced
  • p.Pro276Leu Single submitter Possible mitochondrial disorder - nuclear genes ⚠
  • p.Pro293= Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Pro318= Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Pro388= Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ser406= Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Thr365Pro Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Tyr128Cys Single submitter ⚠
  • p.Val144Ile Single submitter Inborn genetic diseases ⚠
  • p.Val285Ile Single submitter Inborn genetic diseases ⚠
  • p.Val34= Single submitter

Benign 48

Benign/Likely benign 12

  • c.652-16C>T Multiple submitters
  • c.-117G>C Multiple submitters
  • c.-178G>A Multiple submitters
  • c.-44G>A Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.*124G>C Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.*210G>C Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ala10Ser Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Ala129= Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Arg398Cys Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ile189Met Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Leu304Val Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Leu4Val Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Likely benign 366

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 187

  • c.1101+5G>A Multiple submitters
  • c.705+4C>T Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.705+5G>A Multiple submitters
  • c.82+5G>C Multiple submitters
  • c.874-26_874-5dup Multiple submitters
  • c.-147C>A Multiple submitters deafness, aminoglycoside-induced
  • p.Ala268Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala57Ser Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Arg154Gln Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Arg25Lys Multiple submitters TRMU-related disorder ⚠
  • p.Arg26Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg306Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg309Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg323Gln Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Arg332Gln Multiple submitters ⚠
  • p.Arg334Cys Multiple submitters deafness, aminoglycoside-induced ⚠
  • p.Arg361Cys Multiple submitters ⚠
  • p.Arg385Gln Multiple submitters ⚠
  • p.Arg385Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg59Gly Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Cys222Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Cys377Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Cys61Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Gly14Ser Multiple submitters deafness, aminoglycoside-induced ⚠
  • p.Gly193Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly381Arg Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.His210Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Met219Val Multiple submitters ⚠
  • p.Pro318Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro318Ser Multiple submitters Inborn genetic diseases
  • p.Pro411Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro67Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro97Ser Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Ser17Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Thr392Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr49Ile Multiple submitters ⚠
  • p.Tyr301Cys Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Tyr58His Multiple submitters ⚠
  • p.Val157Ile Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Val310Met Multiple submitters Inborn genetic diseases ⚠
  • c.249-2dup Single submitter
  • c.249-8_249-3del Single submitter
  • c.479-3C>T Single submitter
  • c.651+5G>A Single submitter
  • c.77_82+16dup Single submitter
  • c.82+3G>A Single submitter
  • c.82+5G>A Single submitter
  • c.-35G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.-454_-452del Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.-9G>A Single submitter
  • c.*105A>G Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.*113G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.*149G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.*28G>A Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.*320A>G Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ala166Glu Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Ala314Gly Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Ala314Val Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Arg187Gly Single submitter ⚠
  • p.Arg240Gly Single submitter ⚠
  • p.Arg240Leu Single submitter ⚠
  • p.Arg267Thr Single submitter ⚠
  • p.Arg294Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg294Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg306Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg323Trp Single submitter ⚠
  • p.Arg334His Single submitter ⚠
  • p.Arg5Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg93Lys Single submitter ⚠
  • p.Asn250Lys Single submitter ⚠
  • p.Asn250Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp135Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp16_Ser17insGlyGlyValAsp Single submitter
  • p.Asp249Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp375Asn Single submitter ⚠
  • p.Asp40His Single submitter ⚠
  • p.Asp40Val Single submitter ⚠
  • p.Cys377Tyr Single submitter ⚠
  • p.Gln141Arg Single submitter ⚠
  • p.Gln394Ter Single submitter
  • p.Gln397Ter Single submitter
  • p.Gln70Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu137Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu137del Single submitter
  • p.Glu137Val Single submitter Inborn genetic diseases ⚠
  • p.Glu275Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu275Gln Single submitter ⚠
  • p.Glu281Val Single submitter Inborn genetic diseases
  • p.Glu328Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu376Lys Single submitter Inborn genetic diseases
  • p.Glu405Ala Single submitter ⚠
  • p.Glu88Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly193Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly225Arg Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Gly272Ser Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Gly287Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly33Glu Single submitter Inborn genetic diseases ⚠
  • p.His256Arg Single submitter Inborn genetic diseases ⚠
  • p.His297= Single submitter
  • p.His311Gln Single submitter Inborn genetic diseases ⚠
  • p.His330Tyr Single submitter Inborn genetic diseases ⚠
  • p.His335Gln Single submitter ⚠
  • p.His6Arg Single submitter ⚠
  • p.Ile224Phe Single submitter Inborn genetic diseases
  • p.Ile247Thr Single submitter ⚠
  • p.Ile99Val Single submitter Inborn genetic diseases ⚠
  • p.Leu133Pro Single submitter ⚠
  • p.Leu150Ile Single submitter ⚠
  • p.Leu185Pro Single submitter ⚠
  • p.Leu300Pro Single submitter ⚠
  • p.Leu363Phe Single submitter Inborn genetic diseases
  • p.Leu393Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu42Met Single submitter ⚠
  • p.Leu4Ser Single submitter TRMU-related disorder ⚠
  • p.Leu64Ser Single submitter ⚠
  • p.Leu86= Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Lys106Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys282Glu Single submitter ⚠
  • p.Lys91Glu Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Met402Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe107Leu Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Phe151Leu Single submitter ⚠
  • p.Phe155Leu Single submitter ⚠
  • p.Phe175Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe176Cys Single submitter ⚠
  • p.Phe232Val Single submitter Inborn genetic diseases ⚠
  • p.Phe331Leu Single submitter TRMU-related disorder ⚠
  • p.Phe333Cys Single submitter ⚠
  • p.Phe371Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe82Tyr Single submitter ⚠
  • p.Pro191Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro241Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro276Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro388Leu Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Pro407Arg Single submitter ⚠
  • p.Pro407Ser Single submitter ⚠
  • p.Ser408Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser408Ile Single submitter ⚠
  • p.Ser83Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr263Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr345Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr365Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr404Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr94Ile Single submitter ⚠
  • p.Val138Ala Single submitter Inborn genetic diseases ⚠
  • p.Val212Met Single submitter Inborn genetic diseases
  • p.Val289Met Single submitter acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Val291Ala Single submitter ⚠
  • p.Val343Ala Single submitter ⚠
  • p.Val352Leu Single submitter TRMU-related disorder ⚠
  • p.Val360Leu Single submitter ⚠
  • p.Val74Ile Single submitter ⚠
  • c.1101+10G>T No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.1101+4C>A No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.873+9G>A No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.-4G>T No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • c.-8A>C No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Ala120Ser No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Ala204Ser No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Arg208Ser No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Arg309Gly No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Asn347Thr No assertion criteria TRMU-related disorder ⚠
  • p.Asn87= No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Gln141Glu No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Gln394Arg No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Glu136Asp No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Glu148Asp No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Gly194Ala No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Gly28Ala No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.His211Tyr No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Leu192Pro No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Leu273Gln No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Leu344_Thr345insLeu No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Met219Thr No assertion criteria TRMU-related disorder ⚠
  • p.Met327del No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Met327Lys No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Met327Thr No assertion criteria TRMU-related disorder ⚠
  • p.Phe170Cys No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Pro388Gln No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Pro407Leu No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Ser408Gly No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Thr174= No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Trp78Gly No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Val212Leu No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠
  • p.Val354Leu No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Val7Ala No assertion criteria TRMU-related disorder ⚠
  • p.Val7Phe No assertion criteria acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ⚠