POLG — 3203 ClinVar variants

Pathogenic 144

• c.3643+2T>C Expert panel mitochondrial disease
• p.Asp1184Asn Expert panel mitochondrial disease
• c.1433+1G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2480+1G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3104+3A>T Multiple submitters POLG-related disorder
• p.Arg1081Ter Multiple submitters mitochondrial disease
• p.Arg232His Multiple submitters mitochondrial DNA depletion syndrome ⚠
• p.Arg275Ter Multiple submitters mitochondrial DNA depletion syndrome
• p.Arg309Cys Multiple submitters POLG-related disorder
• p.Arg309His Multiple submitters POLG-related disorder
• p.Arg374Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg574Trp Multiple submitters POLG-related disorder
• p.Arg627Trp Multiple submitters mitochondrial DNA depletion syndrome ⚠
• p.Arg709Ter Multiple submitters POLG-related disorder
• p.Arg807Cys Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg807Pro Multiple submitters mitochondrial DNA depletion syndrome
• p.Arg943His Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Asn864Ser Multiple submitters mitochondrial DNA depletion syndrome ⚠
• p.Asp892fs Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Gln449Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln68Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln715Ter Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Gln976Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly848Ser Multiple submitters Possible mitochondrial disorder - nuclear genes
• p.His932Tyr Multiple submitters mitochondrial DNA depletion syndrome
• p.Leu244Pro Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu424fs Multiple submitters Global developmental delay
• p.Pro1073Leu Multiple submitters mitochondrial DNA depletion syndrome
• p.Trp486Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Tyr1210Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Tyr452Ter Multiple submitters mitochondrial DNA depletion syndrome 4b
• c.1251-2A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1433+1G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1704_1712+1del Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+1G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2157+5_2157+6delinsAG Single submitter mitochondrial DNA depletion syndrome 4a
• c.2426+1G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.3482+1G>T Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala1150fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala1165fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala194fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg232Cys Single submitter ⚠
• p.Arg417fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg42fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg478fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg597del Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg964_Leu965insTer Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asp1024fs Single submitter
• p.Asp629fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asp695fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asp832fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Cys913fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Cys913Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln1023Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln1102Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln394Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln439Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln45Ter Single submitter mitochondrial DNA depletion syndrome
• p.Gln46Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln48_Gln49delinsHisTer Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln49Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln53Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln595Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln666Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln77Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln894Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln90Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln922Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu1031fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu105Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu1090fs Single submitter
• p.Glu1090Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu1192Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu191fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu358fs Single submitter
• p.Glu536Ter Single submitter POLG-related disorder
• p.Glu616fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu662Ter Single submitter mitochondrial DNA depletion syndrome
• p.Glu873Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gly303Arg Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gly531fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gly888Ser Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gly96fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ile1185delinsSerLeuProThrSerTrpValTer Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ile808fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu1109fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu247fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu680fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu74fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu771fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu902fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Lys1035fs Single submitter Childhood myocerebrohepatopathy spectrum
• p.Lys1050fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Lys1167fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Lys1191fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Lys321fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Lys331fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Lys665fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Lys934fs Single submitter
• p.Lys947Arg Single submitter
• p.Met430Thr Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met464fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met669fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met967fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Phe377fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro1203fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro521fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro567fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro570fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser1063fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser1086fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser216fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser819Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr1053fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr1194delinsLysTer Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr381fs Single submitter mitochondrial hepatopathy
• p.Thr599Ile Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Thr638fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr778fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr849fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp1003fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp220Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp235Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp25Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp261Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp312Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp345Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp484Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp620Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp897Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp918Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp994Ter Single submitter POLG-related disorder
• p.Tyr233Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr282Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr649Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr739Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr951Asn Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val185fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val432fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val712fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg3Pro No assertion criteria progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ⚠
• p.Ser511Asn No assertion criteria progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ⚠
• p.Trp1019Ter No assertion criteria mitochondrial DNA depletion syndrome 4a
• p.Tyr955His No assertion criteria progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Pathogenic/Likely pathogenic 78

• c.1024-1G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1251-2A>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1433+2T>C Multiple submitters POLG-related disorder
• c.2480+1G>T Multiple submitters POLG-related disorder
• c.3104+1G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3104+2_3104+5del Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3482+2T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3483-2A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3483-4_3497del Multiple submitters POLG-related disorder
• c.3643+1G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.660-2A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala1178fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala1182fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala143Val Multiple submitters POLG-related disorder
• p.Ala467Thr Multiple submitters mitochondrial DNA depletion syndrome 4a ⚠
• p.Ala839fs Multiple submitters sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• p.Ala862Thr Multiple submitters mitochondrial DNA depletion syndrome 4b ⚠
• p.Ala957Pro Multiple submitters Autosomal recessive POLG-related disorders
• p.Ala957Ser Multiple submitters mitochondrial DNA depletion syndrome 4a ⚠
• p.Ala957Val Multiple submitters mitochondrial DNA depletion syndrome ⚠
• p.Ala962fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg1142fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg227fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg227Trp Multiple submitters Abnormality of corpus callosum ⚠
• p.Arg275Gln Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg597Trp Multiple submitters Inborn genetic diseases
• p.Arg627Gln Multiple submitters POLG-related disorder ⚠
• p.Arg807His Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Arg852Cys Multiple submitters Autosomal recessive POLG-related disorders
• p.Arg853Gln Multiple submitters mitochondrial DNA depletion syndrome
• p.Arg869Gln Multiple submitters mitochondrial DNA depletion syndrome 4b
• p.Arg869Ter Multiple submitters mitochondrial DNA depletion syndrome 4b
• p.Arg943Cys Multiple submitters Possible mitochondrial disorder - nuclear genes
• p.Asp1145fs Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Asp890Ala Multiple submitters POLG-related disorder
• p.Cys208Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln137Ter Multiple submitters Inborn genetic diseases
• p.Gln308Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln323Ter Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Gln54Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln55Ter Multiple submitters POLG-related disorder
• p.Gln58Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln60Ter Multiple submitters mitochondrial DNA depletion syndrome 4b
• p.Gln663fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu1084fs Multiple submitters POLG-related disorder
• p.Glu1121delinsValTer Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu1136Lys Multiple submitters Mitochondrial DNA maintenance disorder
• p.Gly1051Arg Multiple submitters POLG-related disorder ⚠
• p.Gly23fs Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Gly426Ser Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Gly737Arg Multiple submitters Mitochondrial DNA maintenance disorder ⚠
• p.Gly888Asp Multiple submitters POLG-related disorder
• p.Ile744fs Multiple submitters POLG-related disorder
• p.Leu127fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu304Arg Multiple submitters POLG-related disorder
• p.Leu966Arg Multiple submitters POLG-related disorder
• p.Lys1191_Glu1192insTer Multiple submitters sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• p.Met525fs Multiple submitters sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• p.Met596fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Phe197fs Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Phe88Leu Multiple submitters POLG-related disorder ⚠
• p.Pro648Arg Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ⚠
• p.Ser1095Arg Multiple submitters POLG-related disorder ⚠
• p.Ser1104Cys Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ser1201fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ser305Arg Multiple submitters Inborn genetic diseases
• p.Ser799fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr13fs Multiple submitters mitochondrial disease
• p.Thr851Ala Multiple submitters mitochondrial DNA depletion syndrome
• p.Thr914Pro Multiple submitters POLG-related disorder
• p.Trp312Arg Multiple submitters POLG-related disorder
• p.Trp572Ter Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Trp607fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Trp748Ser Multiple submitters Acute rhabdomyolysis ⚠
• p.Tyr395Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Tyr955Cys Multiple submitters mitochondrial DNA depletion syndrome
• p.Val1005fs Multiple submitters Inborn genetic diseases
• p.Val1137fs Multiple submitters mitochondrial DNA depletion syndrome 4a

Likely pathogenic 143

• p.Ala1105Pro Expert panel mitochondrial disease
• p.Arg1096Cys Expert panel mitochondrial disease
• p.Gln1175Ter Expert panel mitochondrial disease
• p.Gly1205fs Expert panel mitochondrial disease
• p.Gly1211fs Expert panel mitochondrial disease
• p.Lys1191Asn Expert panel mitochondrial disease
• c.1171-2A>G Multiple submitters POLG-related disorder
• c.1586-1G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1712+2T>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2480+2T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2981+2T>G Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• c.3104+1G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3104+2T>A Multiple submitters mitochondrial DNA depletion syndrome 1
• c.3483-7_3509del Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.659+1G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.855+1G>C Multiple submitters POLG-related disorder
• p.Ala862Val Multiple submitters mitochondrial DNA depletion syndrome 4a ⚠
• p.Arg1096Gly Multiple submitters mitochondrial DNA depletion syndrome
• p.Arg1190fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg597Gly Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg852His Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg953His Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Cys1077fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln44Ter Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu1207fs Multiple submitters POLG-related disorder
• p.His1134Tyr Multiple submitters mitochondrial DNA depletion syndrome
• p.His754Gln Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu549fs Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Pro648Ser Multiple submitters mitochondrial DNA depletion syndrome 4a ⚠
• p.Thr606fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr914Ala Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Val1106Ala Multiple submitters mitochondrial DNA depletion syndrome
• p.Val1177fs Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1023+1G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+1G>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• c.1170+1G>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• c.1171-2A>C Single submitter
• c.1585+2T>G Single submitter
• c.1949+1G>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• c.1950-1G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-2A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+2T>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.2071-2A>G Single submitter POLG-related disorder
• c.2157+2T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.2266-1G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2426+1G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2426+2T>G Single submitter POLG-related disorder
• c.2479_2480+8del Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• c.2598+1G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2598+2T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.2981+1G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.2982-1G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2982-1G>C Single submitter
• c.3104+1del Single submitter mitochondrial DNA depletion syndrome
• c.3483-3C>G Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• c.659+1G>T Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala168Pro Single submitter mitochondrial neurogastrointestinal encephalomyopathy ⚠
• p.Ala170fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala448fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala518fs Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Ala547fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala781Asp Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala854Asp Single submitter
• p.Ala889Pro Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala889Val Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala900Thr Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg1081Pro Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg1161Gly Single submitter
• p.Arg290fs Single submitter POLG-related disorder
• p.Arg386Pro Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Arg417Thr Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg853Gly Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asn795His Single submitter
• p.Asp1107Asn Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asp890Gly Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Asp930Asn Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asp930Gly Single submitter mitochondrial DNA depletion syndrome 4a
• p.Cys1188Arg Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln1089Ter Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Gln1102Pro Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln308His Single submitter mitochondrial DNA depletion syndrome ⚠
• p.Gln409Ter Single submitter
• p.Gln54fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln729Ter Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Gln77fs Single submitter
• p.Glu1054fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu1122fs Single submitter
• p.Glu1207Lys Single submitter ⚠
• p.Glu454Asp Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ⚠
• p.Glu454Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu616Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gly1051Glu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gly1051Trp Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gly737Ter Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Gly763Arg Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Gly917Arg Single submitter
• p.His1134Gln Single submitter mitochondrial DNA depletion syndrome 4a
• p.His805fs Single submitter
• p.Leu1113Pro Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu1173Ter Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Leu1189fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu157Pro Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu265fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu292Pro Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu697Ter Single submitter
• p.Leu717fs Single submitter mitochondrial DNA depletion syndrome 1
• p.Leu779Pro Single submitter Inborn genetic diseases
• p.Leu83Pro Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu931Arg Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• p.Lys726fs Single submitter POLG-related disorder
• p.Lys947Asn Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Met1093fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met295fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met797del Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met919Val Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met985fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro16fs Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Pro190Ser Single submitter
• p.Pro587_Pro589delinsLeuGlyThr Single submitter mitochondrial DNA depletion syndrome
• p.Pro625Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ser1095fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser1176Ter Single submitter
• p.Ser1181Arg Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser1181fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser272fs Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Ser305Ile Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser863Arg Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser933Arg Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ser933Asn Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr294fs Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Thr555fs Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• p.Thr851Asn Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp1099Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp312fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp401Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Trp688Ter Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• p.Trp6Ter Single submitter
• p.Tyr649fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val1012fs Single submitter
• p.Val123Gly Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val762fs Single submitter POLG-related disorder
• p.Trp897fs No assertion criteria POLG-related disorder
• p.Tyr131Ter No assertion criteria POLG-related disorder

Conflicting classifications of pathogenicity 274

• c.1023+13T>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-10C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-11C>T Single submitter POLG-related disorder
• c.125_139dup Single submitter Inborn genetic diseases
• c.1250+5G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-5C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1433+5C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-8C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1585+11T>C Single submitter POLG-related disorder
• c.1713-4G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1713-5C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+3A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-10C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-10C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.2071-14T>G Single submitter POLG-related disorder
• c.2157+11C>T Single submitter POLG-related disorder
• c.2157+15G>A Single submitter POLG-related disorder
• c.2158-10G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2265+1G>A Single submitter POLG-related disorder
• c.2265+6T>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2266-11G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.2426+10C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.2481-10A>C Single submitter POLG-related disorder
• c.2481-7C>T Single submitter Paediatric disorders
• c.2481-9C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2598+15T>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.2599-10C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.2735-7C>G Single submitter POLG-related disorder
• c.2982-3C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.2982-6C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2982-9T>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.3104+3A>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• c.3104+8C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.3273+17G>A Single submitter mitochondrial DNA depletion syndrome 1
• c.3273+5C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.3273+6T>A Single submitter POLG-related disorder
• c.3273+8G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.3274-4C>T Single submitter Inborn genetic diseases
• c.3482+6C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.3482+6C>T Single submitter POLG-related disorder
• c.3482+7G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.3483-13_3483-10dup Single submitter hereditary spastic paraplegia
• c.3643+5G>C Single submitter
• c.3644-16T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.3644-72C>A Single submitter Fanconi anemia complementation group I
• c.3644-9_3644-8del Single submitter mitochondrial DNA depletion syndrome 4a
• c.659+16del Single submitter mitochondrial DNA depletion syndrome 4a
• c.659+6T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.856-17CTC[6] Single submitter mitochondrial DNA depletion syndrome 4a
• c.-80C>T Single submitter POLG-related disorder
• c.*30G>A Single submitter POLG-related disorder
• c.*49G>A Single submitter Fanconi anemia complementation group I
• p.Ala1033Val Single submitter mitochondrial DNA depletion syndrome 4b ⚠
• p.Ala10Val Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ala1150= Single submitter Inborn genetic diseases
• p.Ala194Val Single submitter Inborn genetic diseases ⚠
• p.Ala242= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala425= Single submitter Inborn genetic diseases
• p.Ala467Asp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ala643= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala673= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ala676= Single submitter POLG-related disorder
• p.Ala676Val Single submitter Inborn genetic diseases ⚠
• p.Ala781Pro Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ala781Thr Single submitter POLG-related disorder ⚠
• p.Ala847= Single submitter POLG-related disorder
• p.Ala847Thr Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ala880Asp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ala889Thr Single submitter Inborn genetic diseases ⚠
• p.Ala908= Single submitter POLG-related disorder
• p.Ala936= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg1047Trp Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ⚠
• p.Arg1081dup Single submitter Inborn genetic diseases
• p.Arg1081Gln Single submitter POLG-related disorder ⚠
• p.Arg1096His Single submitter POLG-related disorder ⚠
• p.Arg1096Leu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Arg1128His Single submitter mitochondrial DNA depletion syndrome 4b ⚠
• p.Arg1138Cys Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Arg1138His Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Arg1146Cys Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Arg1148= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg1187Trp Single submitter Inborn genetic diseases ⚠
• p.Arg1234= Single submitter Inborn genetic diseases
• p.Arg288Cys Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ⚠
• p.Arg288His Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Arg290Cys Single submitter POLG-related disorder ⚠
• p.Arg386Cys Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ⚠
• p.Arg417= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg42dup Single submitter Inborn genetic diseases
• p.Arg42Gln Single submitter POLG-related disorder ⚠
• p.Arg562Gln Single submitter Inborn genetic diseases ⚠
• p.Arg574Gln Single submitter POLG-related disorder ⚠
• p.Arg579Trp Single submitter mitochondrial DNA depletion syndrome 4b ⚠
• p.Arg597Gln Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Arg617His Single submitter Inborn genetic diseases ⚠
• p.Arg853Trp Single submitter mitochondrial DNA depletion syndrome ⚠
• p.Arg943delinsLeuSer Single submitter mitochondrial DNA depletion syndrome 4a
• p.Arg953Cys Single submitter POLG-related disorder ⚠
• p.Arg964Cys Single submitter POLG-related disorder ⚠
• p.Arg996= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asn1098Lys Single submitter ⚠
• p.Asn1157Ser Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asn354= Single submitter Inborn genetic diseases
• p.Asn354Asp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asn388= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Asn468Asp Single submitter POLG-related disorder ⚠
• p.Asn684Ser Single submitter Inborn genetic diseases ⚠
• p.Asn707Lys Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asn736Ser Single submitter POLG-related disorder ⚠
• p.Asn740= Single submitter Inborn genetic diseases
• p.Asn864Ile Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asp1172Glu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asp1184Gly Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asp1196Asn Single submitter hereditary spastic paraplegia ⚠
• p.Asp133Gly Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asp136Glu Single submitter Inborn genetic diseases ⚠
• p.Asp542= Single submitter POLG-related disorder
• p.Asp581= Single submitter POLG-related disorder
• p.Asp629= Single submitter POLG-related disorder
• p.Asp695Gly Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Asp830Asn Single submitter Inborn genetic diseases ⚠
• p.Asp890His Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Cys1077Gly Single submitter POLG-related disorder ⚠
• p.Cys1188= Single submitter hereditary spastic paraplegia
• p.Cys1197Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Cys418Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Cys533Trp Single submitter POLG-related disorder ⚠
• p.Gln1089Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gln1214Ter Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln226His Single submitter POLG-related disorder ⚠
• p.Gln328Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gln39Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gln43= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln44Arg Single submitter Inborn genetic diseases ⚠
• p.Gln456= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln46_Gln55del Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln46Arg Single submitter Inborn genetic diseases ⚠
• p.Gln49_Gln55del Single submitter Inborn genetic diseases
• p.Gln49_Gln55dup Single submitter Inborn genetic diseases
• p.Gln49Glu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gln50_Gln55del Single submitter POLG-related disorder
• p.Gln51_Gln55del Single submitter Inborn genetic diseases
• p.Gln51_Gln55dup Single submitter Inborn genetic diseases
• p.Gln52_Gln55del Single submitter Inborn genetic diseases
• p.Gln52Lys Single submitter POLG-related disorder ⚠
• p.Gln53_Gln55del Single submitter Inborn genetic diseases
• p.Gln53Pro Single submitter Inborn genetic diseases
• p.Gln550Glu Single submitter Inborn genetic diseases ⚠
• p.Gln60= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln843= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gln879Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gln968Glu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gln975Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Glu1056Ala Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Glu1136Asp Single submitter Inborn genetic diseases ⚠
• p.Glu1225fs Single submitter mitochondrial DNA depletion syndrome 4a
• p.Glu856Lys Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ⚠
• p.Gly1051Ala Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gly11= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Gly11Asp Single submitter POLG-related disorder ⚠
• p.Gly1205Ala Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gly174= Single submitter Inborn genetic diseases
• p.Gly268Ala Single submitter POLG-related disorder ⚠
• p.Gly38= Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• p.Gly588Asp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gly621Asp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gly674Asp Single submitter POLG-related disorder ⚠
• p.Gly923Asp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gly952Ser Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Gly956Asp Single submitter ⚠
• p.His110= Single submitter mitochondrial DNA depletion syndrome 4a
• p.His110Tyr Single submitter Inborn genetic diseases ⚠
• p.His1110Asn Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.His1110Tyr Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.His277Leu Single submitter mitochondrial DNA depletion syndrome ⚠
• p.His613Asp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.His613Tyr Single submitter Inborn genetic diseases ⚠
• p.His659= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ile1223Val Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ⚠
• p.Ile515= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ile515Val Single submitter Inborn genetic diseases ⚠
• p.Ile652= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Ile954Met Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu1158Ile Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu1170Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu1173= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu141= Single submitter Inborn genetic diseases
• p.Leu142Pro Single submitter POLG-related disorder ⚠
• p.Leu151= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu244Phe Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu244Val Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ⚠
• p.Leu356= Single submitter POLG-related disorder
• p.Leu392Val Single submitter POLG-related disorder ⚠
• p.Leu428Pro Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu463= Single submitter Inborn genetic diseases
• p.Leu473Pro Single submitter Inborn genetic diseases ⚠
• p.Leu530Phe Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu594= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu62= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu623Trp Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu661= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu717= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Leu752Pro Single submitter POLG-related disorder ⚠
• p.Leu874Met Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Leu886Pro Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Lys319Glu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Lys633Thr Single submitter POLG-related disorder ⚠
• p.Lys755Thr Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Met1116Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Met1116Thr Single submitter ⚠
• p.Met1163Thr Single submitter ⚠
• p.Met1195Val Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Met1Val Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met299Leu Single submitter mitochondrial DNA depletion syndrome 4a
• p.Met603Thr Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ⚠
• p.Met669Thr Single submitter Inborn genetic diseases ⚠
• p.Met797Ile Single submitter mitochondrial DNA depletion syndrome ⚠
• p.Met877Val Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ⚠
• p.Phe539_Gln541del Single submitter mitochondrial DNA depletion syndrome 4b
• p.Phe749Ser Single submitter Autosomal recessive POLG-related disorders ⚠
• p.Phe88= Single submitter POLG-related disorder
• p.Pro116Ser Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ⚠
• p.Pro1174= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro241Leu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Pro324Ser Single submitter POLG-related disorder ⚠
• p.Pro324Thr Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Pro325= Single submitter Inborn genetic diseases
• p.Pro56Arg Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Pro570Leu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Pro587= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro587Leu Single submitter POLG-related disorder ⚠
• p.Pro625Leu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Pro635= Single submitter POLG-related disorder
• p.Pro765Thr Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Pro829= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Pro867= Single submitter POLG-related disorder
• p.Pro960= Single submitter hereditary spastic paraplegia
• p.Pro960Ser Single submitter POLG-related disorder ⚠
• p.Ser1176Leu Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ⚠
• p.Ser1176Pro Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ser1181Asn Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Ser29= Single submitter POLG-related disorder
• p.Ser462= Single submitter POLG-related disorder
• p.Ser893Phe Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Thr1072= Single submitter Inborn genetic diseases
• p.Thr1156= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr1160= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr1194= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr251Ile Single submitter POLG-related disorder ⚠
• p.Thr423= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Thr728Ser Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Thr851Ser Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Thr858Ile Single submitter Inborn genetic diseases ⚠
• p.Tyr1166= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr1210= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr131His Single submitter POLG-related disorder ⚠
• p.Tyr282Asp Single submitter mitochondrial DNA depletion syndrome 4b ⚠
• p.Tyr434His Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Tyr452= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr614= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Tyr951= Single submitter POLG-related disorder
• p.Tyr955= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val1044Ala Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 ⚠
• p.Val1074= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val1106Ile Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Val1183= Single submitter POLG-related disorder
• p.Val201= Single submitter mitochondrial DNA depletion syndrome 4a
• p.Val266= Single submitter POLG-related disorder
• p.Val267Leu Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Val400Met Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ⚠
• p.Val437= Single submitter POLG-related disorder
• p.Val814del Single submitter POLG-related disorder
• p.Val855Ala Single submitter mitochondrial DNA depletion syndrome 4a ⚠
• p.Val855Leu Single submitter mitochondrial DNA depletion syndrome 4a ⚠

Benign 59

• c.1250+188A>G Expert panel mitochondrial disease
• c.3483-164A>C Expert panel mitochondrial disease
• c.3483-41A>C Expert panel mitochondrial disease
• p.Arg546Cys Expert panel mitochondrial disease
• p.Glu1143Gly Expert panel mitochondrial disease ⚠
• p.Glu662Lys Expert panel mitochondrial disease
• p.Leu752= Expert panel mitochondrial disease
• p.Thr1199= Expert panel mitochondrial disease
• c.1712+110T>C Multiple submitters
• c.1712+72dup Multiple submitters
• c.1713-237C>T Multiple submitters
• c.1713-31G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1713-32C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1950-21C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2071-22T>C Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• c.2157+92T>C Multiple submitters
• c.2265+236G>A Multiple submitters
• c.2598+204C>A Multiple submitters
• c.2599-225G>A Multiple submitters
• c.2981+69A>C Multiple submitters
• c.3105-36A>G Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• c.3643+226C>G Multiple submitters
• c.3643+257T>G Multiple submitters POLG-related disorder
• c.659+91G>T Multiple submitters
• c.660-46G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1024-38C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-287T>C Single submitter
• c.1251-86dup Single submitter
• c.1712+177C>T Single submitter
• c.1712+19del Single submitter mitochondrial DNA depletion syndrome 4a
• c.1712+238C>T Single submitter
• c.1949+175T>A Single submitter
• c.1949+191_1949+200del Single submitter
• c.1949+195_1949+396del Single submitter Inborn genetic diseases
• c.1949+197_1949+198insTT Single submitter
• c.1949+203_1949+204del Single submitter
• c.1949+218_1949+415del Single submitter Inborn genetic diseases
• c.1950-166del Single submitter
• c.1950-43A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.2266-143_2266-136del Single submitter
• c.2266-153C>T Single submitter
• c.2266-227A>G Single submitter
• c.2426+281A>G Single submitter
• c.2427-240C>T Single submitter
• c.2481-6del Single submitter mitochondrial DNA depletion syndrome 4a
• c.2599-199C>G Single submitter
• c.2734+39_2734+40insAGGT Single submitter sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
• c.2981+116C>T Single submitter
• c.2981+206C>A Single submitter
• c.2981+283A>C Single submitter
• c.2982-331G>T Single submitter
• c.2982-332T>G Single submitter
• c.3482+187dup Single submitter
• c.3483-236dup Single submitter
• c.659+284G>C Single submitter
• c.660-290T>C Single submitter
• c.-200del Single submitter
• p.Gln1236= Single submitter
• p.Gln51delinsProAlaGlu Single submitter

Benign/Likely benign 53

• c.1170+18dup Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1251-43C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1586-5del Multiple submitters Inborn genetic diseases
• c.1712+10G>A Multiple submitters POLG-related disorder
• c.1949+20G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1950-9T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2158-13G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2266-19C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2266-76T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2426+27G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2427-12C>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2480+17G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2481-6C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2599-14C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2735-15C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2982-30G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3105-11T>C Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• c.3105-16_3105-15del Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3274-19G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3482+44G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3483-19T>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3643+180G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3643+258A>G Multiple submitters Fanconi anemia complementation group I
• c.3643+25A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3644-14G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3644-99C>T Multiple submitters Fanconi anemia complementation group I
• c.3644-9A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.659+11G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.660-11A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.856-11C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.856-17CTC[4] Multiple submitters Inborn genetic diseases
• p.Ala703= Multiple submitters POLG-related disorder
• p.Arg722His Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Asn630= Multiple submitters Inborn genetic diseases
• p.Gln1236His Multiple submitters POLG-related disorder
• p.Gln43Arg Multiple submitters Inborn genetic diseases
• p.Gln45Arg Multiple submitters Inborn genetic diseases
• p.Gln50= Multiple submitters Inborn genetic diseases
• p.Gln51= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln52= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln53= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln53_Gln55dup Multiple submitters Inborn genetic diseases
• p.Gln54_Gln55del Multiple submitters Inborn genetic diseases
• p.Gly517Val Multiple submitters Inborn genetic diseases
• p.Ile284= Multiple submitters Inborn genetic diseases
• p.Leu376= Multiple submitters Inborn genetic diseases
• p.Lys316= Multiple submitters Inborn genetic diseases
• p.Lys505= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Phe610= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr1066= Multiple submitters Inborn genetic diseases
• p.Thr1204= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Tyr831Cys Multiple submitters hereditary spastic paraplegia ⚠
• p.Tyr986= Multiple submitters Inborn genetic diseases

Likely benign 997

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

• c.1023+10C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1023+11A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1023+17G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1023+17G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1024-15G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1024-20C>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1170+9C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1171-18C>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1250+9G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1251-20T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1251-23del Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1433+10C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1433+11C>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1433+14G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1434-17G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1434-18dup Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1434-27C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1434-45C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1585+15T>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1585+18G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1586-5C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1713-12G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1713-18C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1949+14C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1950-106T>C Multiple submitters
• c.1950-13G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.1950-16A>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2070+14C>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2071-15C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2071-4C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2157+10G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2157+12G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2157+8G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2158-17G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2158-20T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2158-7C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2265+15A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2265+15A>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2265+20C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2266-8C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2426+137A>G Multiple submitters
• c.2426+17G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2426+75A>C Multiple submitters
• c.2427-14G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2427-16T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2427-17G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2427-18C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2427-20C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2481-11C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2481-4C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2598+214G>A Multiple submitters
• c.2598+9C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2599-40G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2735-20C>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.2982-16A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3104+12_3104+14del Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3105-18_3105-17del Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3105-19T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3105-5C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3105-8T>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3274-8C>T Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
• c.3482+15T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3482+16G>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3482+7G>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.3483-17G>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.659+13A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.660-29T>C Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.660-7C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.660-9C>T Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.855+16C>A Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.855+17del Multiple submitters mitochondrial DNA depletion syndrome 4a
• c.855+19A>G Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala10= Multiple submitters mitochondrial DNA depletion syndrome 1
• p.Ala1033= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala1217= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala172= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala253= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala470= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala500= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala508= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala584= Multiple submitters Inborn genetic diseases
• p.Ala711= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala786= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ala880= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg1138= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg309= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg334= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg374= Multiple submitters Inborn genetic diseases
• p.Arg7= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Arg943= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Asn440= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Asn803= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Asp399= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Asp482= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gln52_Gln55dup Multiple submitters Inborn genetic diseases
• p.Gln540= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu1042= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu1054= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu1121= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu516= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu677= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu700= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu706= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Glu833= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly1017= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly1076= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly111= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly450= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly588= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly674= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly871= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Gly96= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu1010= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu107= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu1109= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu1111= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu1218= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu158= Multiple submitters Inborn genetic diseases
• p.Leu415= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu530= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu591= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu634= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Leu886= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Lys383= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Lys665= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Lys768= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro1011= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro1073= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro163= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro18= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro20= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro241= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro256= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro532= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro560= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro753= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro765= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro842= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Ser642= Multiple submitters Inborn genetic diseases
• p.Thr1094= Multiple submitters Inborn genetic diseases
• p.Thr176= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr251= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr326= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr858= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr861= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Thr938= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Tyr178= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Tyr837= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Tyr884= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Val1101= Multiple submitters Inborn genetic diseases
• p.Val691= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Val699= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Val901= Multiple submitters mitochondrial DNA depletion syndrome 4a
• p.Pro1237= Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+11A>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+12C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+14G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+15C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+16C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+18G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+7G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+7G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+7G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1023+8C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-12C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-14C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-19C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-19C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-24A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-44C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-4C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-6C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1024-9G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1170+11G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1170+12G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1170+12G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1170+16G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1170+19C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1170+7T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-17C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-17C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-19_1171-16del Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-19T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-24C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-30A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-37G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-7G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1171-7G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+12C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+13C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+14C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+15A>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+15A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+15A>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+16T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+19G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+200A>T Single submitter
• c.1250+27_1250+28del Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+37G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+6_1250+9dup Single submitter mitochondrial DNA depletion syndrome 4a
• c.1250+8G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-178C>A Single submitter
• c.1251-38G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-4C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-4C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-5C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-8C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1251-9G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1433+10C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1433+11C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1433+14G>C Single submitter
• c.1433+15G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1433+17T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1433+8G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-20C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-20C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-32C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-40G>A Single submitter
• c.1434-4G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-7del Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-7T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1434-9G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1585+10A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1585+14G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1585+15T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1585+17G>T Single submitter
• c.1585+22TAGGG[4] Single submitter mitochondrial DNA depletion syndrome 4a
• c.1585+7A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1585+8G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-10A>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-10A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-11C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-11C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-11C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-14C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-16T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-18C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-19T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-20G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-21T>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-33_1586-31del Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-5C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-6T>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-8C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1586-9C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1712+16C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1712+18C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1712+18C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1712+19C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1712+7C>T Single submitter
• c.1712+8C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1713-11C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1713-20G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1713-340G>A Single submitter
• c.1713-8G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+12G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+12G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+13C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+16A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+17G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+185T>A Single submitter
• c.1949+191_1949+198del Single submitter
• c.1949+191A>T Single submitter
• c.1949+193T>C Single submitter
• c.1949+198C>T Single submitter
• c.1949+19G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+203A>T Single submitter
• c.1949+20G>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1949+213TC[2] Single submitter
• c.1949+227_1949+230del Single submitter
• c.1949+243_1949+246del Single submitter
• c.1949+305TC[2] Single submitter
• c.1949+319_1949+322del Single submitter
• c.1949+323ACTC[3] Single submitter
• c.1949+327A>T Single submitter
• c.1949+44C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-10C>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-11T>C Single submitter
• c.1950-12T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-13G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-16A>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-16A>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-17T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-18_1950-13dup Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-196C>T Single submitter
• c.1950-20T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-28GCT[3] Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-28GCT[5] Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-32_1950-30del Single submitter mitochondrial DNA depletion syndrome 4a
• c.1950-6G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+10G>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+11G>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+12C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+13T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+13T>G Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+19C>A Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+19C>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.2070+27T>C Single submitter mitochondrial DNA depletion syndrome 4a
• c.2071-10A>T Single submitter mitochondrial DNA depletion syndrome 4a
• c.2071-13T>C Single submitter mitochondrial DNA depletion syndrome 4a