Sugi Variant

Sugi Variant/CARS2

CARS2 — 800 ClinVar variants

All ClinVar germline CARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 317 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 23 Conflicting · 67 Benign · 12 Benign/Likely benign · 324 Likely benign · 368 Uncertain significance

Full CARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 317

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 7

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

Predictors lean, ClinVar uncertain 140

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

Predictors split 169

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 169

All CARS2 variants

Pathogenic 1

  • p.Ile454fs Multiple submitters combined oxidative phosphorylation defect type 27

Pathogenic/Likely pathogenic 1

  • p.Ala219Thr Multiple submitters combined oxidative phosphorylation defect type 27 ⚠

Likely pathogenic 4

  • c.466-2A>G Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala129fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly476Ter Single submitter combined oxidative phosphorylation defect type 27
  • p.Phe414_Asp415insTer Single submitter combined oxidative phosphorylation defect type 27

Conflicting classifications of pathogenicity 23

  • p.Ala219= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala261Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala359Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg101Gln Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg498= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg512Gln Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asn192Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp357Ter Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln362Ter Single submitter combined oxidative phosphorylation defect type 27
  • p.Glu217del Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly478Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu483Trp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu522= Single submitter combined oxidative phosphorylation defect type 27
  • p.Met1Thr Single submitter combined oxidative phosphorylation defect type 27
  • p.Phe108Cys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Phe293fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Pro13fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Ser544Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr46Ala Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Trp42Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Tyr473Cys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Val390Ile Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Val82Ile Single submitter combined oxidative phosphorylation defect type 27 ⚠

Benign 67

Benign/Likely benign 12

  • c.1054+8G>A Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1317+10C>T Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1318-12G>A Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1417-17C>T Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1624-12C>G Multiple submitters combined oxidative phosphorylation defect type 27
  • c.394-13A>C Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ala436= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ala511Thr Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Asp376= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Gly22Arg Multiple submitters combined oxidative phosphorylation defect type 27
  • p.His310= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Lys561Glu Multiple submitters combined oxidative phosphorylation defect type 27

Likely benign 324

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

  • c.1194-17C>G Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1317+24T>C Multiple submitters
  • c.1317+27G>A Multiple submitters
  • c.1318-18C>T Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1623+17G>A Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1623+9C>T Multiple submitters combined oxidative phosphorylation defect type 27
  • c.465+14C>T Multiple submitters combined oxidative phosphorylation defect type 27
  • c.466-18G>A Multiple submitters combined oxidative phosphorylation defect type 27
  • c.571+11T>C Multiple submitters combined oxidative phosphorylation defect type 27
  • c.655+7T>G Multiple submitters combined oxidative phosphorylation defect type 27
  • c.-776+130G>A Multiple submitters
  • p.Ala41Val Multiple submitters Inborn genetic diseases
  • p.Ala469= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ala563= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Asn285= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Gly247= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.His429= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.His536= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ile118= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ile176= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Pro136= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Pro248= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Pro251= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Pro337= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ser358= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ser389= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ser479= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Thr549= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Val419= Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Val491= Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1054+10G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+11C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+12A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+13C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+15C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+15C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+16G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+188G>C Single submitter
  • c.1054+18G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1054+41G>A Single submitter
  • c.1054+7C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1055-11_1055-10del Single submitter combined oxidative phosphorylation defect type 27
  • c.1055-11T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1055-13T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1055-17C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1055-18C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1055-7T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1193+10C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1193+11C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1193+12G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1193+16A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1193+20C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1193+230G>C Single submitter
  • c.1193+25C>T Single submitter
  • c.1194-10C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1194-13C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1194-16dup Single submitter combined oxidative phosphorylation defect type 27
  • c.1194-17C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1194-20G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1194-7C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1317+11G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1317+17G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1318-142C>T Single submitter
  • c.1318-17G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1318-18C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1416+10A>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1416+14_1416+18del Single submitter combined oxidative phosphorylation defect type 27
  • c.1416+20A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-10C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-11G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-12T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-14C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-16G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-18G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-19C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-20C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-20C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-6C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-9T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+10G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+12A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+17G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+18G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+19del Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+59G>A Single submitter
  • c.1623+9C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-10T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-13TCT[4] Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-15_1624-14del Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-15A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-15A>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-299_1624-295del Single submitter
  • c.1624-7T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-9C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.224+10G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.224+10G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.224+12G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.224+7C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.224+7C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.225-19A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.225-4C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.225-5del Single submitter combined oxidative phosphorylation defect type 27
  • c.275+12G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.275+15T>G Single submitter combined oxidative phosphorylation defect type 27
  • c.276-12T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.276-14dup Single submitter combined oxidative phosphorylation defect type 27
  • c.276-15C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.276-19G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.276-47T>C Single submitter
  • c.276-5T>A Single submitter combined oxidative phosphorylation defect type 27
  • c.276-7C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.393+15G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.393+9A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.394-10C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.394-17A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.394-19A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.394-20C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.394-5T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.394-9C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.465+12G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.465+16G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.465+17G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.465+20G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.465+8G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.466-12A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.466-14C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.466-16C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.466-17T>G Single submitter combined oxidative phosphorylation defect type 27
  • c.466-19C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.466-8C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.571+10A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.571+12G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.571+12G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.571+20T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.571+334G>A Single submitter
  • c.572-15T>A Single submitter combined oxidative phosphorylation defect type 27
  • c.655+11C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.655+12G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.655+12G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.655+283T>G Single submitter
  • c.655+8G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.656-11_656-10del Single submitter combined oxidative phosphorylation defect type 27
  • c.656-11G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.656-12T>G Single submitter combined oxidative phosphorylation defect type 27
  • c.656-15G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.656-16C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.656-17C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.656-18A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.656-205T>G Single submitter
  • c.656-20G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.656-20G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.656-8A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.656-8A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.656-9C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.785+14C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.785+15G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.786-125T>C Single submitter
  • c.786-16G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.786-16G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.786-16G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.786-4G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.786-6T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.919+14T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.919+15C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.919+18A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.919+7A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.919+8A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.919+8A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.920-169C>T Single submitter
  • c.920-18C>A Single submitter
  • c.920-18C>T Single submitter
  • c.987+19_987+23del Single submitter combined oxidative phosphorylation defect type 27
  • c.987+20G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.987+7T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.988-10G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.988-11C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.988-13C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.988-17G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.988-4C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.988-5A>T Single submitter combined oxidative phosphorylation defect type 27
  • c.988-8T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.-15G>C Single submitter
  • c.-23A>G Single submitter
  • c.-7C>A Single submitter
  • p.Ala129= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala234= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala261= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala33= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala386= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala393= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala405= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala408= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala41= Single submitter
  • p.Ala411= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala422= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala452= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala501= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala503= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala525= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala535= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala86= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg32= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg346= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg40= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg404= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg48= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg492= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg494= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg530= Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg96= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asn184= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp202= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp220= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp228= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp338= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp357= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp477= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp488= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp510= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp527= Single submitter combined oxidative phosphorylation defect type 27
  • p.Asp554= Single submitter combined oxidative phosphorylation defect type 27
  • p.Cys290= Single submitter combined oxidative phosphorylation defect type 27
  • p.Cys296= Single submitter combined oxidative phosphorylation defect type 27
  • p.Cys344= Single submitter combined oxidative phosphorylation defect type 27
  • p.Cys387= Single submitter combined oxidative phosphorylation defect type 27
  • p.Cys526= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln289= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln295= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln298= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln362= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln459= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln471= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln495= Single submitter combined oxidative phosphorylation defect type 27
  • p.Glu239= Single submitter combined oxidative phosphorylation defect type 27
  • p.Glu458= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly11= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly191= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly20= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly209= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly22= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly252= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly266= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly307= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly36= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly37= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly388= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly39= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly425= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly432= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly47= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly509= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly532= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly564= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly7= Single submitter combined oxidative phosphorylation defect type 27
  • p.His254= Single submitter combined oxidative phosphorylation defect type 27
  • p.His272= Single submitter combined oxidative phosphorylation defect type 27
  • p.His484= Single submitter combined oxidative phosphorylation defect type 27
  • p.His85= Single submitter combined oxidative phosphorylation defect type 27
  • p.His90= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile100= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile103= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile179= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile255= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile260= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile353= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile66= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu10= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu14= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu19= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu269= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu361= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu367= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu368= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu399= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu410= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu426= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu43= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu438= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu523= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu533= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu553= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu58= Single submitter combined oxidative phosphorylation defect type 27
  • p.Leu65= Single submitter combined oxidative phosphorylation defect type 27
  • p.Lys148= Single submitter combined oxidative phosphorylation defect type 27
  • p.Lys561= Single submitter combined oxidative phosphorylation defect type 27
  • p.Phe147= Single submitter combined oxidative phosphorylation defect type 27
  • p.Phe195= Single submitter combined oxidative phosphorylation defect type 27
  • p.Phe229= Single submitter combined oxidative phosphorylation defect type 27
  • p.Phe335= Single submitter combined oxidative phosphorylation defect type 27
  • p.Pro159= Single submitter combined oxidative phosphorylation defect type 27
  • p.Pro214= Single submitter combined oxidative phosphorylation defect type 27
  • p.Pro281= Single submitter combined oxidative phosphorylation defect type 27
  • p.Pro444= Single submitter combined oxidative phosphorylation defect type 27
  • p.Pro505= Single submitter combined oxidative phosphorylation defect type 27
  • p.Pro8= Single submitter
  • p.Ser273= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ser336= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ser347= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ser356= Single submitter combined oxidative phosphorylation defect type 27
  • p.Ser545= Single submitter combined oxidative phosphorylation defect type 27

Uncertain significance 368

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

  • c.1318-10T>A Multiple submitters combined oxidative phosphorylation defect type 27
  • c.393+5G>A Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ala137Thr Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala230Thr Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala261Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala34Gly Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala379Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala386Val Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala436fs Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Ala436Val Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala481Val Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala503Val Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg101Gly Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg182His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg224His Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg346Trp Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg350Cys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg350Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg378His Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg38Cys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg3Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg492Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg492Trp Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg494Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg498Trp Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg512Trp Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg513Gln Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg513Trp Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg530Cys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg530His Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg531Gln Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg531Trp Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg543Ser Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp120Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp338Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp338Gly Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp354Asn Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp354Gly Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp477Gly Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp510Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp527Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp559Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys290Arg Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Gln149Arg Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Gln459His Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Gln514Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu167Lys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu286Lys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu291Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu316Lys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu442Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu480Gln Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu480Lys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu489Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu506Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu518Gln Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly22Glu Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly247Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly25Arg Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly313Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly371Asp Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly388Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly39Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly451Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly537Ser Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.His282Arg Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.His90Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile125Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile126Val Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile176Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile176Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile180Met Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu399Phe Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu502Pro Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Met114Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met1Arg Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Met1Val Multiple submitters combined oxidative phosphorylation defect type 27
  • p.Met360Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met381Val Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Phe373Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Pro13Leu Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro170Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro444Leu Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Ser135Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr188Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr508Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr549Met Multiple submitters Inborn genetic diseases ⚠
  • p.Trp28Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr380His Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Tyr94Cys Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Val156Phe Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Val210Met Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Val420Ala Multiple submitters combined oxidative phosphorylation defect type 27 ⚠
  • p.Val497fs Multiple submitters combined oxidative phosphorylation defect type 27
  • c.1055-3C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1193+5G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1194-3C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.1308_1317+5del Single submitter combined oxidative phosphorylation defect type 27
  • c.1318-8T>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1416+5G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1417-2A>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+1G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+3G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+3G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.1623+4A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.1624-1_1624inv Single submitter combined oxidative phosphorylation defect type 27
  • c.224+3G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.224+4G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.224+5G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.275+5G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.393+1G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.465+3A>G Single submitter combined oxidative phosphorylation defect type 27
  • c.465+5A>C Single submitter
  • c.466-1G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.571+2T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.571+5G>C Single submitter combined oxidative phosphorylation defect type 27
  • c.571+6G>T Single submitter combined oxidative phosphorylation defect type 27
  • c.655+4G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.655+6T>C Single submitter combined oxidative phosphorylation defect type 27
  • c.656-16C>A Single submitter combined oxidative phosphorylation defect type 27
  • c.786-3C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.920-3C>G Single submitter combined oxidative phosphorylation defect type 27
  • c.987+5C>T Single submitter combined oxidative phosphorylation defect type 27
  • c.987+6G>A Single submitter combined oxidative phosphorylation defect type 27
  • c.988-1G>A Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala137Pro Single submitter ⚠
  • p.Ala140Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala181Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala185Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala189Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala189Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala18Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala219Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala219Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala226Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala234fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala234Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala243Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala24Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala311Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala33Gly Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala33Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala377Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala393Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala408Val Single submitter Inborn genetic diseases ⚠
  • p.Ala411fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Ala41Asp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala469Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala501Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala525Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala563Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala73Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ala73Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg101Leu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg101Ter Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg128Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg224Cys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg32Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg341Trp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg346Gln Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg350His Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg398fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg398Lys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg40Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg418Lys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg445Ile Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg48Leu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg492fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Arg492Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg494Gln Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg498Gln Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg498Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg512Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg512Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg543Gly Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg556Gly Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Arg556Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asn133Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asn192Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asn431Asp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asn431Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asn539His Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp196His Single submitter Inborn genetic diseases ⚠
  • p.Asp222Glu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp376Asn Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp488Gly Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Asp98His Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Cys257Trp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Cys296Gly Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Cys296Ter Single submitter combined oxidative phosphorylation defect type 27
  • p.Cys526Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys526Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys526Trp Single submitter Inborn genetic diseases ⚠
  • p.Cys78Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gln295Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gln472= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln514Lys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gln514Ter Single submitter combined oxidative phosphorylation defect type 27
  • p.Gln560Ter Single submitter combined oxidative phosphorylation defect type 27
  • p.Glu144Gly Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu256Lys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu284Gly Single submitter combined oxidative phosphorylation defect type 27
  • p.Glu297Lys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu316del Single submitter combined oxidative phosphorylation defect type 27
  • p.Glu392fs Single submitter
  • p.Glu524Gln Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Glu524Lys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly11Cys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly201Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly209Cys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly209Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly216Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly313Asp Single submitter ⚠
  • p.Gly36Ala Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly36Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly430Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly432Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly476Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly476Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly485Asp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly532Asp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly60Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly60Glu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly7Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Gly9= Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly9_Pro12del Single submitter combined oxidative phosphorylation defect type 27
  • p.Gly9Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.His27fs Single submitter combined oxidative phosphorylation defect type 27
  • p.His283Arg Single submitter Inborn genetic diseases ⚠
  • p.His294Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.His294Tyr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.His305Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.His308Asp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.His429Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.His69fs Single submitter combined oxidative phosphorylation defect type 27
  • p.His85fs Single submitter combined oxidative phosphorylation defect type 27
  • p.Ile103Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile172Met Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile176Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile179Leu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile180Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile260Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile276Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile287Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile326Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile326Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile328Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile353Met Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile453Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Ile540Val Single submitter Inborn genetic diseases ⚠
  • p.Ile99Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu10Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu157His Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu207Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu2Trp Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu370Gln Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu438Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu468Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu502Met Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu523Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu533Pro Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu552Met Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Leu553Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu88Phe Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Lys106Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys148Glu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Lys206Thr Single submitter ⚠
  • p.Lys223Asn Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Lys333Glu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Lys403Glu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Lys439Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys496_Gln499del Single submitter combined oxidative phosphorylation defect type 27
  • p.Met132Leu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Met132Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Met151Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Met1Ile Single submitter combined oxidative phosphorylation defect type 27
  • p.Met1Leu Single submitter combined oxidative phosphorylation defect type 27
  • p.Met263Thr Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Met318Ile Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Met504Ile Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Met504Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Phe108Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Phe108Tyr Single submitter Inborn genetic diseases ⚠
  • p.Phe293Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe331Val Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Phe343del Single submitter combined oxidative phosphorylation defect type 27
  • p.Phe373Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Phe500Cys Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro12His Single submitter Inborn genetic diseases ⚠
  • p.Pro136Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro13Ala Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro13Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro159His Single submitter Inborn genetic diseases ⚠
  • p.Pro212Ser Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro214Leu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro218Ser Single submitter ⚠
  • p.Pro248Ala Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro251Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro251Leu Single submitter combined oxidative phosphorylation defect type 27 ⚠
  • p.Pro417Arg Single submitter combined oxidative phosphorylation defect type 27 ⚠