Sugi Variant

Sugi Variant/FASTKD2

FASTKD2 — 513 ClinVar variants

All ClinVar germline FASTKD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →

14 Pathogenic · 6 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 28 Conflicting · 31 Benign · 9 Benign/Likely benign · 118 Likely benign · 293 Uncertain significance

Full FASTKD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 203

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

Predictors vs ClinVar 1

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

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 159

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 159

Predictors split 27

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

All FASTKD2 variants

Pathogenic 14

  • p.Arg290Ter Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Leu549fs Multiple submitters combined oxidative phosphorylation deficiency 44
  • c.1115-1G>T Single submitter
  • p.Gln346Ter Single submitter combined oxidative phosphorylation deficiency 44
  • p.Gln518Ter Single submitter
  • p.His65fs Single submitter
  • p.Leu107fs Single submitter
  • p.Pro180fs Single submitter combined oxidative phosphorylation deficiency 44
  • p.Ser341fs Single submitter combined oxidative phosphorylation deficiency 44
  • p.Tyr463Ter Single submitter
  • p.Arg205Ter No assertion criteria combined oxidative phosphorylation deficiency 44
  • p.Leu255Pro No assertion criteria combined oxidative phosphorylation deficiency 44
  • p.Ser274fs No assertion criteria combined oxidative phosphorylation deficiency 44
  • p.Ser621fs No assertion criteria combined oxidative phosphorylation deficiency 44

Pathogenic/Likely pathogenic 6

  • c.882-1G>A Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Arg358Ter Multiple submitters FASTKD2-related disorders
  • p.Arg432Ter Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Cys283Ter Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Gln564Ter Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Trp302Ter Multiple submitters combined oxidative phosphorylation deficiency 44

Likely pathogenic 14

  • c.991-2A>G Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Ser160fs Multiple submitters combined oxidative phosphorylation deficiency 44
  • c.1254+1G>C Single submitter combined oxidative phosphorylation deficiency 44
  • c.1428-2A>G Single submitter
  • c.1899-2A>G Single submitter combined oxidative phosphorylation deficiency 44
  • p.Arg633Ile Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Asp168fs Single submitter
  • p.Asp500fs Single submitter combined oxidative phosphorylation deficiency 44
  • p.Gln228Ter Single submitter
  • p.Leu166fs Single submitter combined oxidative phosphorylation deficiency 44
  • p.Leu513fs Single submitter combined oxidative phosphorylation deficiency 44
  • p.Lys475fs Single submitter combined oxidative phosphorylation deficiency 44
  • p.Pro211Arg Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Pro448fs Single submitter combined oxidative phosphorylation deficiency 44

Conflicting classifications of pathogenicity 28

  • c.1427+12T>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.882-3C>T Single submitter Inborn genetic diseases
  • c.991-13G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.-130G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.-30T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2960T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Ala698Val Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Arg201His Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg432Gln Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asn673Ser Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Asp398Val Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Gln228His Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Ile304Thr Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Leu403Val Single submitter ⚠
  • p.Leu451= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Leu529= Single submitter combined oxidative phosphorylation deficiency 44
  • p.Lys315= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Lys50Arg Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Lys692Glu Single submitter Inborn genetic diseases ⚠
  • p.Ser10Thr Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Ser593Leu Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Thr186= Single submitter
  • p.Thr291Met Single submitter Inborn genetic diseases ⚠
  • p.Trp26Arg Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Tyr463= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Val312Ala Single submitter Inborn genetic diseases ⚠
  • p.Val35Ile Single submitter Inborn genetic diseases ⚠
  • p.Val479Leu Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠

Benign 31

Benign/Likely benign 9

  • c.1254+9A>C Multiple submitters combined oxidative phosphorylation deficiency 44
  • c.1427+20dup Multiple submitters combined oxidative phosphorylation deficiency 44
  • c.2013+12dup Multiple submitters
  • c.777+18T>C Multiple submitters combined oxidative phosphorylation deficiency 44
  • c.-51A>G Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Asn396Ser Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Asp364Asn Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Gln252= Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Phe64= Multiple submitters combined oxidative phosphorylation deficiency 44

Likely benign 118

Uncertain significance 293

  • c.-15A>G Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • c.*87A>G Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Ala100Ser Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ala176Val Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ala187Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala21Val Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ala238Thr Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg102Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg201Cys Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg261Cys Multiple submitters Inborn genetic diseases
  • p.Arg261His Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg327Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg660Gln Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg660Trp Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Arg75= Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Asn344Asp Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asn575Asp Multiple submitters ⚠
  • p.Asn57Ser Multiple submitters ⚠
  • p.Asn66Ser Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asp412Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp544His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp551del Multiple submitters combined oxidative phosphorylation deficiency 44
  • p.Asp624Tyr Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asp72Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gln228Pro Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Gln564Arg Multiple submitters ⚠
  • p.Glu278Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu427Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu427Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly430Ala Multiple submitters Inborn genetic diseases ⚠
  • p.His468Arg Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.His65Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile154Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile361Thr Multiple submitters ⚠
  • p.Ile383Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu107Val Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Leu520Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu520Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu543Ser Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Lys175Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys193Arg Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Lys454Glu Multiple submitters ⚠
  • p.Met280Ile Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Met355Val Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Met659Leu Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Met665Val Multiple submitters mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Pro151Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro512Leu Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ser119Phe Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ser15Gly Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ser209Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser526Asn Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Thr248Asn Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Thr275Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr552Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr691Pro Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Val240Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val297Ile Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Val407Met Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • p.Val696Leu Multiple submitters combined oxidative phosphorylation deficiency 44 ⚠
  • c.1428-13C>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.1814-15A>G Single submitter combined oxidative phosphorylation deficiency 44
  • c.1814-3C>T Single submitter
  • c.1899-5T>G Single submitter
  • c.990+3A>G Single submitter Inborn genetic diseases
  • c.-127G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.-158T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.-178T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.-37C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1010T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1036C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*104A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1158C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1159G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1180G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1202A>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1295C>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1335G>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1345G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1406G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1446A>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1450T>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1452C>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1464C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1494A>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1578C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1579G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1621A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1700A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1716A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1883T>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*1981C>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2021G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2085G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2107T>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2141G>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2298C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2316G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2331C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2346C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2374C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2428G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2431C>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2463T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*257G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2630G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2876A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2885C>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2937A>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2994A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*2997A>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3112A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3121T>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3135T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3231G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3238G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*328T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3297C>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3318G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3355C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3380G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3429G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3450G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3453A>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3470C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3472C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3502G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3542C>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3559G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3592C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3673G>A Single submitter combined oxidative phosphorylation deficiency 44
  • c.*3683G>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3710C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3730C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3775C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3862C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3896A>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*3990G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*399T>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*4142T>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*4199G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*4201C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*4222A>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*4237A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*4326C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*4360A>G Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*451C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*585G>C Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*58G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*799C>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • c.*813G>A Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Ala176Ser Single submitter ⚠
  • p.Ala212Val Single submitter Inborn genetic diseases ⚠
  • p.Ala333= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Ala483Thr Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ala576Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala664= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Arg153His Single submitter ⚠
  • p.Arg261Gly Single submitter ⚠
  • p.Arg261Pro Single submitter ⚠
  • p.Arg294Lys Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg339Lys Single submitter ⚠
  • p.Arg42Lys Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg567Gln Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Arg652Gly Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asn141Lys Single submitter ⚠
  • p.Asn18Ser Single submitter ⚠
  • p.Asn19Ser Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asn19Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asn263Ser Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asn452Asp Single submitter ⚠
  • p.Asn467Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn497Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn536His Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asn536Ser Single submitter ⚠
  • p.Asn575Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn57Lys Single submitter ⚠
  • p.Asn63Tyr Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asn663Lys Single submitter ⚠
  • p.Asn66Lys Single submitter ⚠
  • p.Asp364Gly Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asp391Val Single submitter Inborn genetic diseases ⚠
  • p.Asp405His Single submitter Inborn genetic diseases ⚠
  • p.Asp544Asn Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Asp551Asn Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Asp622Gly Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Asp678_Met682del Single submitter
  • p.Asp87Asn Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Cys269Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys269Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys546Arg Single submitter ⚠
  • p.Cys638Arg Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Gln215Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln299Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln346Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln346Lys Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Gln393Arg Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Gln473Arg Single submitter ⚠
  • p.Gln518Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln616_Leu618del Single submitter combined oxidative phosphorylation deficiency 44
  • p.Gln710fs Single submitter
  • p.Glu142Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu162Gly Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Glu162Lys Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Glu350Val Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Glu480Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu676Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu681Lys Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Glu697Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly22Val Single submitter ⚠
  • p.Gly243Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly292Val Single submitter Inborn genetic diseases ⚠
  • p.Gly47Arg Single submitter ⚠
  • p.Gly590Glu Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Gly647Ser Single submitter ⚠
  • p.Gly89Asp Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Gly94Ser Single submitter Inborn genetic diseases ⚠
  • p.His210Tyr Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.His287Pro Single submitter ⚠
  • p.His468Tyr Single submitter Inborn genetic diseases ⚠
  • p.His573Arg Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.His597Arg Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ile103Thr Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ile304Val Single submitter ⚠
  • p.Ile317Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile361Lys Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ile525Met Single submitter ⚠
  • p.Ile608Leu Single submitter Inborn genetic diseases ⚠
  • p.Leu112Val Single submitter Inborn genetic diseases ⚠
  • p.Leu195Val Single submitter ⚠
  • p.Leu236Phe Single submitter ⚠
  • p.Leu270Val Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Leu277Ser Single submitter ⚠
  • p.Leu343Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu371Pro Single submitter ⚠
  • p.Leu386= Single submitter combined oxidative phosphorylation deficiency 44
  • p.Leu399Phe Single submitter ⚠
  • p.Leu403Pro Single submitter ⚠
  • p.Leu429Phe Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Leu499Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu562Val Single submitter ⚠
  • p.Leu620Val Single submitter ⚠
  • p.Leu671Trp Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Leu98Val Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Lys225Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys368Asn Single submitter ⚠
  • p.Lys390Arg Single submitter ⚠
  • p.Met1Leu Single submitter combined oxidative phosphorylation deficiency 44
  • p.Met220Arg Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Met220Thr Single submitter ⚠
  • p.Met227Thr Single submitter Inborn genetic diseases ⚠
  • p.Met280Val Single submitter Inborn genetic diseases ⚠
  • p.Met348Val Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Met355Ile Single submitter Inborn genetic diseases ⚠
  • p.Met441Val Single submitter ⚠
  • p.Met508Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe234Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe349Ser Single submitter ⚠
  • p.Phe400Leu Single submitter ⚠
  • p.Phe478Ser Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Phe78Leu Single submitter ⚠
  • p.Pro245Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro322Leu Single submitter
  • p.Pro51Ser Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Pro563Ala Single submitter ⚠
  • p.Pro566Leu Single submitter ⚠
  • p.Pro599Leu Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ser10Asn Single submitter ⚠
  • p.Ser126Tyr Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ser23Tyr Single submitter ⚠
  • p.Ser345Asn Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠
  • p.Ser367Gly Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ser36Ala Single submitter ⚠
  • p.Ser388Phe Single submitter ⚠
  • p.Ser504Pro Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Ser561Ala Single submitter ⚠
  • p.Thr275Pro Single submitter ⚠
  • p.Thr33= Single submitter combined oxidative phosphorylation deficiency 44
  • p.Thr3Lys Single submitter ⚠
  • p.Thr612Ala Single submitter ⚠
  • p.Thr625Ala Single submitter ⚠
  • p.Thr626_Thr629del Single submitter
  • p.Thr626Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr71Pro Single submitter ⚠
  • p.Tyr538His Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Tyr694Cys Single submitter Inborn genetic diseases ⚠
  • p.Val313Leu Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Val419Phe Single submitter ⚠
  • p.Val469Ile Single submitter ⚠
  • p.Val54Phe Single submitter combined oxidative phosphorylation deficiency 44 ⚠
  • p.Val634Ile Single submitter ⚠
  • p.Val701Ala Single submitter Inborn genetic diseases ⚠
  • p.Val88Ala Single submitter combined oxidative phosphorylation deficiency 44 ⚠