MT-ND5 — 329 ClinVar variants
All ClinVar germline MT-ND5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Pathogenic · 8 Likely pathogenic · 2 Conflicting · 95 Benign · 14 Benign/Likely benign · 71 Likely benign · 137 Uncertain significance
Full MT-ND5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll MT-ND5 variants
Pathogenic 2
- m.13094T>C Expert panel mitochondrial disease
- m.13513G>A Expert panel mitochondrial disease
Likely pathogenic 8
- m.12425del Expert panel mitochondrial disease
- m.13042G>A Expert panel mitochondrial disease
- m.13046T>C Expert panel mitochondrial disease
- m.13514A>G Expert panel mitochondrial disease
- p.Phe124Leu Expert panel mitochondrial disease
- m.12923G>A Single submitter Leigh syndrome
- m.13480G>A Single submitter Primary Mitochondrial Disorders
- m.13769_13787del Single submitter Primary Mitochondrial Disorders
Conflicting classifications of pathogenicity 2
- m.12535C>T Single submitter Leigh syndrome
- m.13112T>C Single submitter Leigh syndrome
Benign 95
- m.12372G>A Expert panel mitochondrial disease
- m.12811T>C Expert panel mitochondrial disease
- m.12358A>G Multiple submitters Leigh syndrome
- m.12557C>T Multiple submitters Leigh syndrome
- m.12937A>G Multiple submitters Leigh syndrome
- m.13145G>A Multiple submitters Leigh syndrome
- m.13651A>G Multiple submitters Leigh syndrome
- m.13759G>A Multiple submitters Leigh syndrome
- m.12338T>C Single submitter Leigh syndrome
- m.12361A>G Single submitter Leigh syndrome
- m.12362C>T Single submitter Leigh syndrome
- m.12373A>G Single submitter Leigh syndrome
- m.12397A>G Single submitter Leigh syndrome
- m.12400A>G Single submitter Leigh syndrome
- m.12403C>T Single submitter Leigh syndrome
- m.12406G>A Single submitter Leigh syndrome
- m.12425A>G Single submitter Leigh syndrome
- m.12454G>A Single submitter Leigh syndrome
- m.12490A>G Single submitter Leigh syndrome
- m.12530A>G Single submitter Leigh syndrome
- m.12542C>T Single submitter Leigh syndrome
- m.12599T>C Single submitter Leigh syndrome
- m.12634A>G Single submitter Leigh syndrome
- m.12705C>T Single submitter
- m.12757T>C Single submitter Leigh syndrome
- m.12820G>A Single submitter Leigh syndrome
- m.12850A>G Single submitter Leigh syndrome
- m.12880T>C Single submitter Leigh syndrome
- m.12904A>G Single submitter Leigh syndrome
- m.12923G>T Single submitter Leigh syndrome
- m.12940G>A Single submitter Leigh syndrome
- m.12950A>C Single submitter Leigh syndrome
- m.12950A>G Single submitter Leigh syndrome
- m.12952G>A Single submitter Leigh syndrome
- m.12961A>G Single submitter Leigh syndrome
- m.12967A>G Single submitter Leigh syndrome
- m.13117A>G Single submitter Leigh syndrome
- m.13129C>T Single submitter Leigh syndrome
- m.13135G>A Single submitter Leigh syndrome
- m.13183A>G Single submitter Leigh syndrome
- m.13184T>C Single submitter Leigh syndrome
- m.13204G>A Single submitter Leigh syndrome
- m.13276A>G Single submitter Leigh syndrome
- m.13327A>G Single submitter Leigh syndrome
- m.13368G>A Single submitter
- m.13401T>C Single submitter
- m.13466G>C Single submitter Leigh syndrome
- m.13477G>A Single submitter Leigh syndrome
- m.13535A>G Single submitter Leigh syndrome
- m.13565C>T Single submitter Leigh syndrome
- m.13594A>G Single submitter Leigh syndrome
- m.13630A>G Single submitter Leigh syndrome
- m.13637A>G Single submitter Leigh syndrome
- m.13681A>G Single submitter Leigh syndrome
- m.13711G>A Single submitter Leigh syndrome
- m.13741A>G Single submitter Leigh syndrome
- m.13748A>G Single submitter Leigh syndrome
- m.13753T>C Single submitter Leigh syndrome
- m.13754C>T Single submitter Leigh syndrome
- m.13755C>T Single submitter
- m.13762T>G Single submitter Leigh syndrome
- m.13768T>C Single submitter Leigh syndrome
- m.13781T>C Single submitter Leigh syndrome
- m.13789T>C Single submitter Leigh syndrome
- m.13810G>A Single submitter Leigh syndrome
- m.13813G>A Single submitter Leigh syndrome
- m.13819T>C Single submitter Leigh syndrome
- m.13834A>G Single submitter Leigh syndrome
- m.13862A>G Single submitter Leigh syndrome
- m.13874T>C Single submitter Leigh syndrome
- m.13880C>A Single submitter Leigh syndrome
- m.13886T>C Single submitter Leigh syndrome
- m.13889G>A Single submitter Leigh syndrome
- m.13924C>T Single submitter Leigh syndrome
- m.13928G>A Single submitter Leigh syndrome
- m.13933A>G Single submitter Leigh syndrome
- m.13943C>T Single submitter Leigh syndrome
- m.13958G>C Single submitter Leigh syndrome
- m.13966A>G Single submitter Leigh syndrome
- m.13967C>T Single submitter Leigh syndrome
- m.13973A>T Single submitter Leigh syndrome
- m.13981C>T Single submitter Leigh syndrome
- m.14003C>T Single submitter Leigh syndrome
- m.14041C>T Single submitter Leigh syndrome
- m.14053A>G Single submitter Leigh syndrome
- m.14059A>G Single submitter Leigh syndrome
- m.14063T>C Single submitter Leigh syndrome
- m.14071A>G Single submitter Leigh syndrome
- m.14110T>C Single submitter Leigh syndrome
- m.14122A>G Single submitter Leigh syndrome
- m.14128A>G Single submitter Leigh syndrome
- m.14129C>T Single submitter Leigh syndrome
- m.14142C>G Single submitter Leigh syndrome
- p.Asn109Ser Single submitter Leigh syndrome
- p.Thr127Ala Single submitter Leigh syndrome
Benign/Likely benign 14
- m.12346C>T Multiple submitters Leigh syndrome
- m.13105A>G Multiple submitters Leigh syndrome
- m.13708G>A Multiple submitters Leigh syndrome
- m.13722A>G Multiple submitters
- m.13780A>G Multiple submitters Leigh syndrome
- m.13802C>T Multiple submitters Leigh syndrome
- m.13820T>C Multiple submitters Leigh syndrome
- m.13879T>C Multiple submitters Leigh syndrome
- m.13928G>C Multiple submitters Leigh syndrome
- m.13934C>T Multiple submitters Leigh syndrome
- m.13948C>T Multiple submitters Leigh syndrome
- m.14000T>A Multiple submitters Leigh syndrome
- m.14002A>G Multiple submitters Leigh syndrome
- m.14133A>G Multiple submitters
Likely benign 71
- m.13528A>G Expert panel mitochondrial disease
- m.12340A>G Single submitter Leigh syndrome
- m.12341C>T Single submitter Leigh syndrome
- m.12352A>G Single submitter Leigh syndrome
- m.12367A>G Single submitter Leigh syndrome
- m.12401C>T Single submitter Leigh syndrome
- m.12414T>C Single submitter
- m.12424A>G Single submitter Leigh syndrome
- m.12436C>T Single submitter Leigh syndrome
- m.12437A>G Single submitter Leigh syndrome
- m.12451A>G Single submitter Leigh syndrome
- m.12477T>C Single submitter
- m.12481T>A Single submitter Leigh syndrome
- m.12501G>A Single submitter
- m.12512A>T Single submitter Leigh syndrome
- m.12612A>G Single submitter
- m.12618G>A Single submitter
- m.12622G>A Single submitter Leigh syndrome
- m.12810A>G Single submitter
- m.12879T>C Single submitter
- m.12890C>T Single submitter Leigh syndrome
- m.12906C>A Single submitter Leigh syndrome
- m.13002C>A Single submitter
- m.13153A>G Single submitter Leigh syndrome
- m.13212C>T Single submitter
- m.13225G>A Single submitter Leigh syndrome
- m.13254T>C Single submitter
- m.13285A>G Single submitter Leigh syndrome
- m.13326T>C Single submitter
- m.13398A>G Single submitter
- m.13434A>G Single submitter
- m.13466G>A Single submitter Leigh syndrome
- m.13485A>G Single submitter
- m.13488T>C Single submitter
- m.13543T>C Single submitter Leigh syndrome
- m.13576A>G Single submitter Leigh syndrome
- m.13579G>A Single submitter Leigh syndrome
- m.13606A>G Single submitter Leigh syndrome
- m.13615A>G Single submitter Leigh syndrome
- m.13617T>C Single submitter
- m.13635T>C Single submitter
- m.13649C>T Single submitter Leigh syndrome
- m.13661A>G Single submitter Leigh syndrome
- m.13676A>G Single submitter Leigh syndrome
- m.13681A>T Single submitter Leigh syndrome
- m.13762T>A Single submitter Leigh syndrome
- m.13763C>T Single submitter Leigh syndrome
- m.13768T>A Single submitter Leigh syndrome
- m.13770C>A Single submitter Leigh syndrome
- m.13790A>G Single submitter Leigh syndrome
- m.13801A>G Single submitter Leigh syndrome
- m.13816A>G Single submitter Leigh syndrome
- m.13879T>A Single submitter Leigh syndrome
- m.13888T>C Single submitter Leigh syndrome
- m.13907A>G Single submitter Leigh syndrome
- m.13919T>A Single submitter Leigh syndrome
- m.14022A>G Single submitter
- m.14029A>G Single submitter Leigh syndrome
- m.14035T>G Single submitter Leigh syndrome
- m.14040G>A Single submitter
- m.14040G>C Single submitter Leigh syndrome
- m.14047A>G Single submitter Leigh syndrome
- m.14060T>C Single submitter Leigh syndrome
- m.14062A>G Single submitter Leigh syndrome
- m.14076A>G Single submitter
- m.14142C>A Single submitter Leigh syndrome
- m.14148A>G Single submitter
- p.Asn109Tyr Single submitter Leigh syndrome
- p.Asn113Ser Single submitter Leigh syndrome
- p.Asn115= Single submitter
- p.Val132Ile Single submitter Leigh syndrome
Uncertain significance 137
- m.12544A>G Expert panel mitochondrial disease
- m.12770A>G Expert panel mitochondrial disease
- m.12848C>T Expert panel mitochondrial disease
- m.13045A>C Expert panel mitochondrial disease
- m.13051G>A Expert panel mitochondrial disease
- m.13063G>A Expert panel mitochondrial disease
- m.13084A>T Expert panel mitochondrial disease
- m.13379A>C Expert panel mitochondrial disease
- m.13379A>G Expert panel mitochondrial disease
- m.13730G>A Expert panel mitochondrial disease
- m.13760C>T Multiple submitters Leigh syndrome
- m.12344T>C Single submitter Leigh syndrome
- m.12344T>G Single submitter MELAS syndrome
- m.12349A>G Single submitter Leigh syndrome
- m.12382A>G Single submitter Leigh syndrome
- m.12383T>C Single submitter Leigh syndrome
- m.12386C>T Single submitter Leigh syndrome
- m.12389C>T Single submitter Leigh syndrome
- m.12410A>G Single submitter Leigh syndrome
- m.12426C>A Single submitter Leigh syndrome
- m.12432C>T Single submitter
- m.12448T>A Single submitter Leigh syndrome
- m.12448T>C Single submitter Leigh syndrome
- m.12457G>A Single submitter Leigh syndrome
- m.12458C>T Single submitter Leigh syndrome
- m.12479T>C Single submitter Leigh syndrome
- m.12481T>C Single submitter Leigh syndrome
- m.12493A>G Single submitter
- m.12501G>C Single submitter Leigh syndrome
- m.12509A>G Single submitter Leigh syndrome
- m.12520A>G Single submitter Leigh syndrome
- m.12545C>T Single submitter Leigh syndrome
- m.12556A>G Single submitter Leigh syndrome
- m.12560A>G Single submitter Leigh syndrome
- m.12561G>C Single submitter Leigh syndrome
- m.12565T>A Single submitter
- m.12587A>G Single submitter Leigh syndrome
- m.12601T>C Single submitter Leigh syndrome
- m.12613G>T Single submitter Leigh syndrome
- m.12631T>C Single submitter Leigh syndrome
- m.12775G>A Single submitter Leigh syndrome
- m.12797T>C Single submitter Leigh syndrome
- m.12799A>G Single submitter Leigh syndrome
- m.12814G>A Single submitter Leigh syndrome
- m.12835G>A Single submitter Leigh syndrome
- m.12836C>T Single submitter Leigh syndrome
- m.12842T>C Single submitter Leigh syndrome
- m.12851T>C Single submitter Leigh syndrome
- m.12858C>A Single submitter mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- m.12865A>G Single submitter Leigh syndrome
- m.12868G>A Single submitter Leigh syndrome
- m.12889G>A Single submitter
- m.12903T>C Single submitter
- m.12905T>C Single submitter Leigh syndrome
- m.12941C>T Single submitter Leigh syndrome
- m.12994G>A Single submitter Leigh syndrome
- m.12997G>A Single submitter Leigh syndrome
- m.13027C>A Single submitter Leigh syndrome
- m.13064T>C Single submitter Leigh syndrome
- m.13073T>A Single submitter Leigh syndrome
- m.13097T>C Single submitter Leigh syndrome
- m.13099G>A Single submitter Leigh syndrome
- m.13106T>C Single submitter Leigh syndrome
- m.13147C>T Single submitter Leigh syndrome
- m.13151T>C Single submitter Leigh syndrome
- m.13154T>C Single submitter Leigh syndrome
- m.13159A>G Single submitter Leigh syndrome
- m.13162C>A Single submitter Leigh syndrome
- m.13198G>A Single submitter Leigh syndrome
- m.13204G>C Single submitter Leigh syndrome
- m.13240G>A Single submitter Leigh syndrome
- m.13246T>C Single submitter Leigh syndrome
- m.13279G>A Single submitter Leigh syndrome
- m.13288G>A Single submitter Leigh syndrome
- m.13289G>A Single submitter MELAS syndrome
- m.13328C>A Single submitter Leigh syndrome
- m.13336T>C Single submitter Leigh syndrome
- m.13345G>A Single submitter mitochondrial disease
- m.13369T>C Single submitter Leigh syndrome
- m.13375A>G Single submitter Leigh syndrome
- m.13376T>C Single submitter Leigh syndrome
- m.13388A>G Single submitter Leigh syndrome
- m.13391A>G Single submitter Leigh syndrome
- m.13406G>A Single submitter Leigh syndrome
- m.13415G>A Single submitter Leigh syndrome
- m.13436C>A Single submitter Leigh syndrome
- m.13438C>A Single submitter Leigh syndrome
- m.13463G>A Single submitter Leigh syndrome
- m.13468C>A Single submitter Leigh syndrome
- m.13471G>A Single submitter Leigh syndrome
- m.13478C>T Single submitter Leigh syndrome
- m.13484T>C Single submitter Leigh syndrome
- m.13495A>G Single submitter Leigh syndrome
- m.13507T>C Single submitter Leigh syndrome
- m.13521C>A Single submitter
- m.13522A>C Single submitter Leigh syndrome
- m.13522A>G Single submitter Leigh syndrome
- m.13524C>A Single submitter Leigh syndrome
- m.13552G>A Single submitter Leigh syndrome
- m.13568T>C Single submitter Leigh syndrome
- m.13583C>T Single submitter Leigh syndrome
- m.13612A>T Single submitter Leigh syndrome
- m.13616T>C Single submitter Leigh syndrome
- m.13645T>A Single submitter Leigh syndrome
- m.13651A>C Single submitter Leigh syndrome
- m.13651A>T Single submitter Leigh syndrome
- m.13664T>C Single submitter Leigh syndrome
- m.13712C>T Single submitter Leigh syndrome
- m.13726G>A Single submitter Leigh syndrome
- m.13835C>T Single submitter Leigh syndrome
- m.13873A>G Single submitter
- m.13885C>A Single submitter Leigh syndrome
- m.13912C>T Single submitter MELAS syndrome
- m.13913T>C Single submitter Leigh syndrome
- m.13919T>C Single submitter Leigh syndrome
- m.13926T>C Single submitter
- m.13946T>C Single submitter Leigh syndrome
- m.13974A>T Single submitter Leigh syndrome
- m.13986_13988del Single submitter MELAS syndrome
- m.14020T>G Single submitter Leigh syndrome
- m.14021T>C Single submitter MELAS syndrome
- m.14042A>T Single submitter Leigh syndrome
- m.14050T>C Single submitter Leigh syndrome
- m.14051C>T Single submitter Leigh syndrome
- m.14053A>C Single submitter Leigh syndrome
- m.14091A>T Single submitter Leigh syndrome
- m.14112C>A Single submitter Leigh syndrome
- m.14113T>C Single submitter Leigh syndrome
- m.14120T>C Single submitter
- m.14138T>C Single submitter Leigh syndrome
- m.14140A>G Single submitter Leigh syndrome
- m.14143A>G Single submitter Leigh syndrome
- m.14144C>T Single submitter Leigh syndrome
- p.Asn113Asp Single submitter Leigh syndrome
- p.Asn136Ser Single submitter Leigh syndrome
- p.Ile126Thr Single submitter Leigh syndrome
- m.13713C>A No assertion criteria Congenital cardiomyopathy