Sugi Variant

Sugi Variant/MTO1

MTO1 — 809 ClinVar variants

All ClinVar germline MTO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 338 flagged for review →

46 Pathogenic · 8 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 20 Conflicting · 33 Benign · 11 Benign/Likely benign · 310 Likely benign · 364 Uncertain significance

Full MTO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 338

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 2

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 248

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 248

Predictors split 72

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

All MTO1 variants

Pathogenic 46

  • p.Arg488Ter Multiple submitters MTO1-related disorder
  • p.Gly379fs Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile584fs Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu531Ter Multiple submitters Inborn genetic diseases
  • p.Thr411Ile Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-2A>G Single submitter Inborn genetic diseases
  • p.Arg242fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg242Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg313fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg313Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg324fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg33fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg388fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg484Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg500Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asn144fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Cys58fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln216fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln223Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln279Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln347fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln499Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln597Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu512fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu522fs Single submitter Fetal anomalies with a likely genetic cause
  • p.Glu92_Val93insTer Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly211fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly425fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.His46fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu323fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu474fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu608fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys321Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys519_Ile521del Single submitter Fetal anomalies with a likely genetic cause
  • p.Lys86fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Met138fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe230fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro392fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser188fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser262fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser80fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Trp123Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr616Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Val176fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Val565fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg620fs No assertion criteria mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Pathogenic/Likely pathogenic 8

  • p.Ala428Thr Multiple submitters mitochondrial oxidative phosphorylation disorder
  • p.Arg442Ter Multiple submitters MTO1-related disorder
  • p.Arg469Ter Multiple submitters MTO1-related disorder
  • p.Arg484Trp Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Asp549fs Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu416fs Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys245fs Multiple submitters Inborn genetic diseases
  • p.Tyr134_Lys135delinsTer Multiple submitters MTO1-related disorder

Likely pathogenic 17

  • c.417+2T>C Multiple submitters MTO1-related disorder
  • p.Ala31fs Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg464Cys Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1756+2T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.535+1G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg477Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg68Pro Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp452_Thr455delinsValThrTer Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp557Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Cys77Tyr Single submitter
  • p.Gln358Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly87Ter Single submitter MTO1-related disorder
  • p.Leu596Gln Single submitter Abnormal brain morphology ⚠
  • p.Leu96fs Single submitter MTO1-related disorder
  • p.Lys321Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr53fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asn115fs No assertion criteria mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Conflicting classifications of pathogenicity 20

  • c.1261-5T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.-4C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg313Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg401Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg442Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg464Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg473Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg477His Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg645Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Cys682Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu691Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly59Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile408Phe Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys321Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met361Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro264Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Thr352Met Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Thr391Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr539Ile Single submitter Inborn genetic diseases ⚠
  • p.Val13Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠

Benign 33

Benign/Likely benign 11

  • c.1637+16A>G Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln595= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile362Met Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu353= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu632= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Met351Val Multiple submitters Inborn genetic diseases
  • p.Thr207Met Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr308Ala Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr456= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Val41= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Val517Met Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Likely benign 310

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

  • c.1129+168C>T Multiple submitters
  • c.1465+7_1465+8del Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1466-34A>G Multiple submitters
  • c.1917+17G>A Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-19T>C Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.535+52G>A Multiple submitters
  • c.536-11T>G Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-10del Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-13T>C Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg242= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg9= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp342= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp70= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp94= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln609= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln665= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln688= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly379= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly421= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile84= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu143= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu323= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu64= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys600= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys86= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe37= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro354= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr352= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr378= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Val184= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Val231= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+12C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+13A>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+13A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+14C>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+15A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+17G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+8_1129+10del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1129+9G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1130-147C>G Single submitter
  • c.1130-20T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1260+174T>G Single submitter
  • c.1260+17T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1260+180_1260+188del Single submitter
  • c.1260+183_1260+188del Single submitter
  • c.1260+19A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1260+260G>A Single submitter
  • c.1260+453A>G Single submitter
  • c.1260+7A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1260+9_1260+13del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1261-12G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1261-12G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1261-18A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1261-4G>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1261-5T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1261-9C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1465+15A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1465+18C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1465+19C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1465+52A>G Single submitter
  • c.1466-10C>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1466-11C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1466-12T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1466-17_1466-16del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1466-17C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1466-4C>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1466-6C>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1637+10T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1637+12dup Single submitter
  • c.1637+14A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1637+15T>C Single submitter
  • c.1637+7A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1638-10A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1638-12A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1638-14T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1638-15_1638-14del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1638-16T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1638-20A>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1756+11A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1756+16del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1756+17G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1756+19C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1756+324G>A Single submitter
  • c.1757-11T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1757-14A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1757-20A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1917+10T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1917+11A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1917+12G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1917+14_1917+17del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1917+16G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1917+8A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1917+9A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-11T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-14G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-15_1918-13del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-18T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-20C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-20del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1918-6_1918-5insCTAAAT Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.217+13G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.217+14G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.217+19G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.217+20T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.217+9C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-11_218-10del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-11A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-13C>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-14T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-15G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-15G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-38G>A Single submitter
  • c.218-8_218-6del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.417+12G>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.417+14A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.417+17A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.417+7A>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.417+7A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.417+8T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.417+8T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.418-11T>C Single submitter
  • c.418-13T>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.418-15A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.418-5G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.418-6T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.535+14A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.535+17G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.536-10T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.536-146C>T Single submitter
  • c.536-19_536-18del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.536-3dup Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.536-4T>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.536-9G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.536-9G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.825+10_825+29del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.825+11T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.825+12T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.825+14C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.825+150dup Single submitter
  • c.825+19A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.826-15G>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.938+12A>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.938+14G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.938+19T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.938+20G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-10T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-15A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-19T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-7A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.-13T>G Single submitter
  • c.-45C>A Single submitter
  • p.Ala12= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala210= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala222= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala31= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala355= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala405= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala418= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala419= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala424= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala428= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala481= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala504= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala55= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala642= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala643= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala652= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala95= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg431= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg477= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg5= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg546Ser Single submitter Inborn genetic diseases
  • p.Arg61= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg620= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg667= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg690= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg91= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asn254= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asn302= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asn427= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asn480= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp130= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp38= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp452= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asp605= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Cys100= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Cys104= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Cys282= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Cys495= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Cys505= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln128= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln136= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln151= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln499= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln668= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu166Gly Single submitter
  • p.Glu369= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu50= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu522= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu589= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu92= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly204= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly220= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly229= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly311= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly348= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly410= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly43= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly445= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly45= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly8= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly82= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.His256= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile219= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile294= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile390= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile451= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile640= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu125= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu133= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu178= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu205= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu280= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu284= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu329= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu334= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu349= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu368= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu430= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu454= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu485= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu487= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu518= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu524= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu543= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu548= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu582= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu614= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu63= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu63Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys135= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys140= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys227= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys236= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys245= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Lys297Glu Single submitter Inborn genetic diseases
  • p.Lys662= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe15= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe4= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe438= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe472= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe634= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro120= Single submitter
  • p.Pro258= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro261= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro276= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro289= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro32= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro35= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro436= Single submitter
  • p.Pro437= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro478= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro533= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro611= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro637= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Pro647= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser317= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser429= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser433= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser441= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser497= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser516= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser542= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser560= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser669= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser76= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ser80= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr149= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr183= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr207= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr224= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr271= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr308= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr34= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr363= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr412= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr459= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr467= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr486= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr49= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr53= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr663= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Thr71= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr3= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr384= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr463= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr501= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr553= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr588= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Val11= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Uncertain significance 364

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

  • c.1129+246G>A Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1465+4A>T Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.535+5G>A Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.939-6T>G Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala186Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala547Thr Multiple submitters Inborn genetic diseases
  • p.Arg102His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg116Gln Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg116Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg172Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg172His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg198Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg212Cys Multiple submitters MTO1 deficiency ⚠
  • p.Arg242Gln Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg290Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg324Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg324His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg328Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg328His Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg33Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg388His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg431Gln Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg434Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg434His Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg464His Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg473His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg488Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg488Pro Multiple submitters Inborn genetic diseases
  • p.Arg500Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg629Gln Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg636His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg645His Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg666Ter Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg68His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg9Gly Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asn269Ser Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp157Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp28Asn Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp292Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp383Asn Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Cys364Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gln400Glu Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln420Arg Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu246Gln Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu356Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu502Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu691fs Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gly379Ser Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly445Val Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly494Ser Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly648Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly85Arg Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His330Tyr Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His397Asn Multiple submitters Inborn genetic diseases ⚠
  • p.His594Tyr Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile103Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile248Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile408Val Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile423Thr Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile447Thr Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile447Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile451Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile537Val Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile640Met Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu353Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu548Val Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys17Glu Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys529Gln Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys676Glu Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met138Thr Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met465Val Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met671Val Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro32Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro35Ala Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro35Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro436Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro566Ala Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro568Ala Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro647Leu Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ser174Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser540Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser540Ile Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ser669Leu Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Thr168Ser Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Thr183Ala Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Thr412Ile Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Thr49Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr539Asn Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Thr573Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr639= Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Tyr3Cys Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Tyr501His Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Val122Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val13Ile Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Val150Leu Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Val202Ala Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Val231Leu Multiple submitters mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • c.1129+209C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • c.1260+187T>G Single submitter hereditary motor neuron disease
  • c.1260+191G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1260+193C>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1260+258del Single submitter
  • c.1260+309del Single submitter
  • c.1261-3T>G Single submitter
  • c.1637+3A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1756+5A>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.1757-3C>T Single submitter
  • c.1917+2_1917+3insGAGAAAGTACATTTTAGTCGTCCACAGACGGT Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.218-16_218-15insA Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.535+4C>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.535+5G>T Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.826-10T>C Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.938+6G>A Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • c.*7A>G Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ala127Ser Single submitter ⚠
  • p.Ala244Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala244Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala418Val Single submitter Inborn genetic diseases ⚠
  • p.Ala47Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala493Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala504Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala51Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala547Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala56Pro Single submitter ⚠
  • p.Ala56Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala586Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala653Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ala95Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg102Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg117Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg126Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg131Lys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg172Pro Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg212His Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg24Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg24Trp Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg328Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg33Trp Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg401Gln Single submitter ⚠
  • p.Arg401Leu Single submitter ⚠
  • p.Arg431Trp Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg469Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg500Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg541Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg546Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg61Gln Single submitter ⚠
  • p.Arg629Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg629Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Arg636Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg636Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg666Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg666Pro Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg686Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg68Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Arg690fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Asn115Lys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asn288His Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asn327Tyr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asn409Asp Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asn409Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asn656His Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asn656Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp105Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp157Tyr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp28Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp479Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp479Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp482Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp549Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp559Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp605Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Asp70Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Cys364Tyr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Cys495Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Cys575Trp Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Cys58Trp Single submitter Inborn genetic diseases
  • p.Gln139Pro Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln151Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln216His Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln223Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln331Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln375Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln381Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln498Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln597= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln597Pro Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln665Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln668Ter Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Gln679Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln679Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gln688_Glu689del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu166Lys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu187Asp Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu206Val Single submitter Inborn genetic diseases ⚠
  • p.Glu277Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu307Lys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu319Gly Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu356Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu444Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu471Asp Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu567Asp Single submitter ⚠
  • p.Glu577Lys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Glu689fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Glu689Lys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly153Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly211Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly214Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly214Arg Single submitter ⚠
  • p.Gly214Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly220Val Single submitter Inborn genetic diseases ⚠
  • p.Gly338Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly367Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly367Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly379Arg Single submitter MTO1-related disorder ⚠
  • p.Gly425Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly43Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly458Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly48Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly514Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly59Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly648Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly87Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Gly8Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His208Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His256Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His304Pro Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His330Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His36Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.His46Arg Single submitter Inborn genetic diseases ⚠
  • p.His633fs Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.His633Tyr Single submitter ⚠
  • p.Ile129Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile159Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile190del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile219Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile344Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile423Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile521Met Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile521Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile532Asn Single submitter
  • p.Ile532Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile654Met Single submitter Inborn genetic diseases ⚠
  • p.Ile655Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Ile72= Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Ile72Met Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu143Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu160del Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Leu213Phe Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu225Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu296Phe Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu301Phe Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu329Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu334Met Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu349Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu398Phe Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu430Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu454Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu476Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu531Ile Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu548Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu608Phe Single submitter ⚠
  • p.Leu614Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu617Met Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu617Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Leu687Val Single submitter Inborn genetic diseases ⚠
  • p.Leu96Met Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys112Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys17Gln Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys227Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys255Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys255Asn Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys297Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys306Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys372Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys491Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys563Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys574Glu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Lys583Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys600Arg Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met138Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met200Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met351Thr Single submitter ⚠
  • p.Met558Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met75Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met90Ile Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Met90Val Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Phe20_Pro21delinsLeuThr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • p.Phe20Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Phe438Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Phe4Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Phe593Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Phe81Cys Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro21Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro21Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro240Leu Single submitter ⚠
  • p.Pro240Ser Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro258Leu Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro289Ala Single submitter ⚠
  • p.Pro326Ala Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠
  • p.Pro376Thr Single submitter mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ⚠