Sugi Variant

Sugi Variant/ELAC2

ELAC2 — 1199 ClinVar variants

All ClinVar germline ELAC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 404 flagged for review →

48 Pathogenic · 7 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 27 Conflicting · 81 Benign · 8 Benign/Likely benign · 563 Likely benign · 439 Uncertain significance

Full ELAC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 404

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 3

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 202

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 202

Predictors split 190

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 190

All ELAC2 variants

Pathogenic 48

  • c.1423+1G>A Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Cys670fs Multiple submitters Inborn genetic diseases
  • p.Gln18Ter Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ile153fs Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Phe154Leu Multiple submitters Prostate cancer, hereditary, 2, susceptibility to
  • p.Ala11fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Arg43Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Arg630Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Cys136fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Cys311Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Cys405fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Gln330Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Gln356Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Gln479Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Gln727Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Gln92fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Gln96Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu174Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu176Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu290fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu622Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Gly288fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Gly47Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.His546fs Single submitter combined oxidative phosphorylation defect type 17
  • p.His548Alafs Single submitter combined oxidative phosphorylation defect type 17
  • p.His601fs Single submitter combined oxidative phosphorylation defect type 17
  • p.His685fs Single submitter intellectual disability
  • p.Leu100fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Leu128Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Leu133fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Leu513fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Leu569fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Leu576fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Met416fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Met760fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Pro26fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Ser736fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Thr365fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Trp115Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Trp357Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Tyr354Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Tyr75Ter Single submitter prostate cancer, hereditary, 2
  • p.Val234fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Val256fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Val460fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Arg251Ter No assertion criteria combined oxidative phosphorylation defect type 17
  • p.Leu423Phe No assertion criteria combined oxidative phosphorylation defect type 17 ⚠
  • p.Thr520Ile No assertion criteria combined oxidative phosphorylation defect type 17

Pathogenic/Likely pathogenic 7

  • c.245+2T>A Multiple submitters combined oxidative phosphorylation defect type 17
  • c.297-2_297-1delinsT Multiple submitters Inborn genetic diseases
  • p.Arg497Ter Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Glu30Ter Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Glu482Ter Multiple submitters Inborn genetic diseases
  • p.Met715fs Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Tyr425Ter Multiple submitters combined oxidative phosphorylation defect type 17

Likely pathogenic 26

  • c.1080-1G>C Multiple submitters combined oxidative phosphorylation defect type 17
  • c.1908+1G>A Multiple submitters combined oxidative phosphorylation defect type 17
  • c.1305-2A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1521-2A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1698+1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-2A>G Single submitter Inborn genetic diseases
  • c.1809-1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2029+1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-2A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.2109-6_2111del Single submitter combined oxidative phosphorylation defect type 17
  • c.246-2A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.367+2T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.432+1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.738+1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.739-1G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.797+1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.984-2A>G Single submitter combined oxidative phosphorylation defect type 17
  • p.Ala648Val Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu310Ala Single submitter combined oxidative phosphorylation defect type 17
  • p.Met343Arg Single submitter combined oxidative phosphorylation defect type 17
  • p.Pro142Leu Single submitter ovarian cancer ⚠
  • p.Pro300del Single submitter
  • p.Pro493Leu Single submitter
  • p.Thr57Ile Single submitter ovarian cancer ⚠
  • c.2254-2A>G No assertion criteria ELAC2-related disorder

Conflicting classifications of pathogenicity 27

  • c.1305-8_1305-7insTCTC Single submitter combined oxidative phosphorylation defect type 17
  • c.1808+15C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+1G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.560-2A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.680-11T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.871-11del Single submitter combined oxidative phosphorylation defect type 17
  • p.Ala65= Single submitter combined oxidative phosphorylation defect type 17
  • p.Arg211Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Arg675Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg781His Single submitter Inborn genetic diseases ⚠
  • p.Arg785_Asp805dup Single submitter Inborn genetic diseases
  • p.Cys51Phe Single submitter Inborn genetic diseases ⚠
  • p.Gln523Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu174Lys Single submitter ovarian cancer ⚠
  • p.His226Arg Single submitter Inborn genetic diseases ⚠
  • p.His749Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Lys784Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Met750Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ser116Phe Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ser17Leu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ser217= Single submitter combined oxidative phosphorylation defect type 17
  • p.Ser490Ala Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ser507= Single submitter combined oxidative phosphorylation defect type 17
  • p.Ser52Cys Single submitter Inborn genetic diseases ⚠
  • p.Thr639Ala Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Trp197Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Val642Met Single submitter prostate cancer, hereditary, 2 ⚠

Benign 81

Benign/Likely benign 8

  • c.1305-8delinsCTCTC Multiple submitters combined oxidative phosphorylation defect type 17
  • c.368-4T>A Multiple submitters combined oxidative phosphorylation defect type 17
  • c.797+14del Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ala541Thr Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg464Trp Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg564= Multiple submitters prostate cancer, hereditary, 2
  • p.Glu622Val Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Pro32Arg Multiple submitters combined oxidative phosphorylation defect type 17

Likely benign 563

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

  • c.1079+91C>T Multiple submitters
  • c.1080-177C>T Multiple submitters
  • c.1659+258A>G Multiple submitters
  • c.1908+16G>A Multiple submitters combined oxidative phosphorylation defect type 17
  • c.2108+13G>A Multiple submitters combined oxidative phosphorylation defect type 17
  • c.2108+54G>C Multiple submitters
  • c.2109-17C>G Multiple submitters combined oxidative phosphorylation defect type 17
  • c.2254-8T>C Multiple submitters combined oxidative phosphorylation defect type 17
  • c.245+238C>T Multiple submitters
  • c.367+7A>G Multiple submitters combined oxidative phosphorylation defect type 17
  • c.432+7C>T Multiple submitters combined oxidative phosphorylation defect type 17
  • c.559+168A>T Multiple submitters
  • c.559+16A>G Multiple submitters combined oxidative phosphorylation defect type 17
  • c.738+17G>A Multiple submitters combined oxidative phosphorylation defect type 17
  • c.983+9G>A Multiple submitters combined oxidative phosphorylation defect type 17
  • c.*33G>T Multiple submitters
  • p.Ala11= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ala467= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ala717= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ala792= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Asp280= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Asp469= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Cys525= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Gln819= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Glu97= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Gly123= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Gly801= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ile775= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Leu40= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Leu486= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Leu803= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Pro508= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ser52Phe Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Thr179= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Thr387= Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Tyr75= Multiple submitters combined oxidative phosphorylation defect type 17
  • c.1079+13G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1079+14C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1079+16C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1079+19C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1079+20G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-12G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-16dup Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-16G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-16G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-17G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-18G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-19C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-19C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-20C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-20C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-257A>G Single submitter
  • c.1080-276G>A Single submitter
  • c.1080-5C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-8C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1080-8C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+11A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+11A>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+12G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+16G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+19C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+20C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+20C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+20C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+27G>A Single submitter
  • c.1218+8C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1218+8C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1219-12T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1219-17T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1304+13T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1304+15del Single submitter combined oxidative phosphorylation defect type 17
  • c.1304+15G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1304+15G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1304+212C>T Single submitter
  • c.1304+9C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1305-10C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1305-11_1305-8del Single submitter combined oxidative phosphorylation defect type 17
  • c.1305-12_1305-11insCTCT Single submitter
  • c.1305-12C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1305-12C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1305-14C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1305-16CT[6] Single submitter
  • c.1305-20G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1305-8_1305-7insTC Single submitter combined oxidative phosphorylation defect type 17
  • c.1423+116T>C Single submitter
  • c.1423+11G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1423+13C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1423+152T>C Single submitter
  • c.1423+167G>T Single submitter
  • c.1423+19A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1423+208G>A Single submitter
  • c.1423+7G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1423+8G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1423+9G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1424-12A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1424-15T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1424-17C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1424-5dup Single submitter combined oxidative phosphorylation defect type 17
  • c.1424-6T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1520+7T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1520+9C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1521-16C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1521-20C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1521-24CT[2] Single submitter combined oxidative phosphorylation defect type 17
  • c.1521-259_1521-258del Single submitter
  • c.1521-274dup Single submitter
  • c.1659+116T>G Single submitter
  • c.1659+12G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+12G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+13del Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+20A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+7G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+8T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1660-10T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1660-10T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1660-17T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1660-18C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1660-263A>G Single submitter
  • c.1660-5G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1660-9C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1698+18T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1698+20G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-12T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-15C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-15C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-16G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-19C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1699-20A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1808+14del Single submitter combined oxidative phosphorylation defect type 17
  • c.1808+7A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1809-10C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1809-12G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1809-14T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1809-14T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1809-150T>C Single submitter
  • c.1809-19A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1809-8T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+11_1908+12del Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+16G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+20G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+7G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+8G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+9C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-11C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-14C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-15G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-15G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-16A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-18C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-20del Single submitter combined oxidative phosphorylation defect type 17
  • c.1909-8C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2029+10G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2029+11G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2029+19A>C Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-12C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-15G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-18del Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-3del Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-4C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-6C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2108+12C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2108+14_2108+16dup Single submitter combined oxidative phosphorylation defect type 17
  • c.2108+8del Single submitter combined oxidative phosphorylation defect type 17
  • c.2108+9G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2109-15G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2109-18T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.2109-19C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.2109-201C>G Single submitter
  • c.2109-6C>T Single submitter
  • c.2109-9C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+14_2253+15del Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+15C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+15C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+15C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+16G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+20A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.2253+29C>T Single submitter
  • c.2253+317G>A Single submitter
  • c.2254-11G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2254-12T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.2254-13T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.2254-14A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.2254-16C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.2254-36C>G Single submitter
  • c.2254-5T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.2254-6T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.2254-9G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.245+10C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.245+14C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.245+14C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.245+17C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.245+18G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.245+19C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.245+20C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.245+9A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.246-14T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.246-15A>C Single submitter combined oxidative phosphorylation defect type 17
  • c.246-18G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.246-19T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.246-20G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.246-7C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.246-89del Single submitter
  • c.246-8T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.246-9G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.296+10T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.296+11C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.296+11C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.296+13_296+14del Single submitter combined oxidative phosphorylation defect type 17
  • c.296+3_296+6dup Single submitter combined oxidative phosphorylation defect type 17
  • c.296+9G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.297-10T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.297-14T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.297-16G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.297-4T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.297-5del Single submitter combined oxidative phosphorylation defect type 17
  • c.297-8A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.297-9C>A Single submitter combined oxidative phosphorylation defect type 17
  • c.297-9C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.367+12C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.367+15del Single submitter combined oxidative phosphorylation defect type 17
  • c.367+15T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.367+19G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.368-10T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.368-11A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.368-12C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.368-7T>A Single submitter combined oxidative phosphorylation defect type 17
  • c.432+10T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.432+11C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.432+12del Single submitter combined oxidative phosphorylation defect type 17
  • c.432+15A>C Single submitter combined oxidative phosphorylation defect type 17
  • c.432+17A>C Single submitter combined oxidative phosphorylation defect type 17
  • c.432+18C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.433-16C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.433-20A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.433-5A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.433-5A>T Single submitter combined oxidative phosphorylation defect type 17
  • c.490+11G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.490+13C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.490+18A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.491-11T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.491-18TG[4] Single submitter combined oxidative phosphorylation defect type 17
  • c.491-20G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.491-31A>G Single submitter
  • c.491-4G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.491-53_491-37dup Single submitter
  • c.491-5T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.491-6T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.559+12del Single submitter combined oxidative phosphorylation defect type 17
  • c.559+17G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.559+18G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.559+61G>A Single submitter
  • c.559+7A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.559+8T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.560-12T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.560-15A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.560-20G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.560-293G>A Single submitter
  • c.560-6G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.679+11A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.679+14C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.679+16_679+20del Single submitter combined oxidative phosphorylation defect type 17
  • c.679+236G>A Single submitter
  • c.680-12G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.680-14G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.680-169G>A Single submitter
  • c.680-16G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.680-19C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.680-4T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.680-6C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.738+12T>A Single submitter combined oxidative phosphorylation defect type 17
  • c.738+13T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.738+14T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.738+15C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.738+16C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.738+7A>C Single submitter combined oxidative phosphorylation defect type 17
  • c.738+9G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.739-11C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.739-15T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.739-18A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.739-20C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.739-275G>A Single submitter
  • c.739-4G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.797+13G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.797+16A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.797+20C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.797+8_797+9del Single submitter combined oxidative phosphorylation defect type 17
  • c.797+8T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.797+8T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.797+9G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.797+9G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.797+9G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.798-13C>G Single submitter combined oxidative phosphorylation defect type 17
  • c.798-19C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.798-7A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.870+11T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.871-17C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.871-18G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.871-18G>T Single submitter combined oxidative phosphorylation defect type 17
  • c.871-20G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.871-7T>C Single submitter combined oxidative phosphorylation defect type 17

Uncertain significance 439

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

  • c.1080-3C>T Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Ala272Thr Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala277Thr Multiple submitters prostate cancer, hereditary, 2 ⚠
  • p.Ala344Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala549Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala652Val Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala792Val Multiple submitters prostate cancer, hereditary, 2 ⚠
  • p.Arg104Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg166Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg29Phe Multiple submitters combined oxidative phosphorylation defect type 17
  • p.Arg33Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg360Trp Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg381His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg404Cys Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg404His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg428Cys Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg428His Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg435Ser Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg477del Multiple submitters Inborn genetic diseases
  • p.Arg526His Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg630Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg675Trp Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg788Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg791_Ala792insGlnValArg Multiple submitters Inborn genetic diseases
  • p.Arg791Gln Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg812Trp Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Asn107Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn379Lys Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Asn582Ser Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp509Asn Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp774Asn Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Cys87Arg Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln189Arg Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln594Glu Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln809Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Glu149Lys Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu462Ala Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu622Gly Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu694Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu741Lys Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu97Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly132Ala Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly132Arg Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly281Arg Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly303Val Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly665Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly802Ser Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.His186Arg Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.His223Arg Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.His383Asn Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.His393Tyr Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.His600Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile183Met Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile396Val Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile775Asn Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu121Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu158Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu451Met Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu503Phe Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu547Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu569Val Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu624Ser Multiple submitters prostate cancer, hereditary, 2 ⚠
  • p.Leu7Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys384Met Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Lys45Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met494Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro141Leu Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Pro171Leu Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Pro171Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro265Ala Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Pro299Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro394Leu Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Pro572Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser459Gly Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Ser511Tyr Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Thr298Asn Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Thr440Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr667Ile Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • p.Tyr75His Multiple submitters Inborn genetic diseases ⚠
  • p.Val241Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val348Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val91Ile Multiple submitters combined oxidative phosphorylation defect type 17 ⚠
  • c.1218+5T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.1424-3C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.1424-9T>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+2dup Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+3G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1659+5G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1698+1G>C Single submitter prostate cancer, hereditary, 2
  • c.1698+5G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.1808+4A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+3A>G Single submitter combined oxidative phosphorylation defect type 17
  • c.1908+5G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2029+5G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.2030-11T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.2108+1G>A Single submitter
  • c.2253+6_2253+321del Single submitter combined oxidative phosphorylation defect type 17
  • c.297-3T>A Single submitter combined oxidative phosphorylation defect type 17
  • c.432+1del Single submitter combined oxidative phosphorylation defect type 17
  • c.490+5G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.560-10T>C Single submitter combined oxidative phosphorylation defect type 17
  • c.560-18G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.560-1G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.680-3C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.739-13_739-9del Single submitter combined oxidative phosphorylation defect type 17
  • c.797+11G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.870+4A>T Single submitter Inborn genetic diseases
  • c.871-10G>A Single submitter combined oxidative phosphorylation defect type 17
  • c.871-3C>T Single submitter combined oxidative phosphorylation defect type 17
  • c.983+6G>C Single submitter combined oxidative phosphorylation defect type 17
  • c.-2G>T Single submitter
  • p.Ala12Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala164Asp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala272Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala27Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala333Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala333Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala335Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala3Gly Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala3Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala450Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala450Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala467Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala549Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala565Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala607Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala620Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala648Gly Single submitter ⚠
  • p.Ala65Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala708Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala717Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala72Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala72Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala73Glu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala792_Leu794delinsVal Single submitter combined oxidative phosphorylation defect type 17
  • p.Ala792Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala813Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala820Gly Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ala820Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg104His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg112Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg166Trp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg202Gly Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg211Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg231Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg235Gly Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg251Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg251Ser Single submitter ⚠
  • p.Arg28Cys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg28His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg29Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg33His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg404Leu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg41Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg430Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg465del Single submitter combined oxidative phosphorylation defect type 17
  • p.Arg465Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg46Cys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg477Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg497Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg526Cys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg564Cys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg643Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg643Leu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg643Trp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg68Trp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg728His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg781Cys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg781Leu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg785Trp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg788Trp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg791Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg797Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg812Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg812Leu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Arg824fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Asn218Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn220Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asn220Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asn323Asp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asn371Ser Single submitter ⚠
  • p.Asn390Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asn455Lys Single submitter ⚠
  • p.Asn593Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asn86Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp106Gly Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp214His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp236Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp280Asn Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp280Glu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp313Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp351Glu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp351Gly Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp35Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp469Asn Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp550Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp633Asn Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Asp756fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp Single submitter combined oxidative phosphorylation defect type 17
  • p.Cys311Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys374Leu Single submitter combined oxidative phosphorylation defect type 17
  • p.Cys405Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Cys421Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Cys441Trp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Cys516Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Cys51Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln182His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln18Pro Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln198Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln230Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln366His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln388Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln418Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln452Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln458Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln468Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln479Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln479Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln590His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln61His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln789His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln819His Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gln819Ter Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu145Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu176Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu176Val Single submitter ⚠
  • p.Glu216Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu314Gly Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu322Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu636= Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu671Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu699Ala Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu776Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu780_Glu783del Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu798Leu Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu798Ser Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu804Asp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Glu804fs Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu807Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu817del Single submitter combined oxidative phosphorylation defect type 17
  • p.Glu817Lys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly123Glu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly13Glu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly156Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly19_Gln24del Single submitter combined oxidative phosphorylation defect type 17
  • p.Gly227Asp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly233Lys Single submitter combined oxidative phosphorylation defect type 17
  • p.Gly303Ala Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly303Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly419Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly419Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly517Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly522Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly529Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly53Cys Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly54Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly71Ala Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly801Asp Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Gly90Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His114Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His194Pro Single submitter Inborn genetic diseases ⚠
  • p.His223Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His248Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His286Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His286Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His383Tyr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His39Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His551Asn Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His592Pro Single submitter ⚠
  • p.His644Tyr Single submitter ⚠
  • p.His647Leu Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.His98Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile153Val Single submitter Inborn genetic diseases ⚠
  • p.Ile185Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile22Met Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile22Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile284del Single submitter combined oxidative phosphorylation defect type 17
  • p.Ile317Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile396Phe Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile492Met Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile558Thr Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile616Met Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile764Ser Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Ile775Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu126Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu239Pro Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu370Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu391Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu399Arg Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu400Phe Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu40Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu412Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu422Phe Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu559Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu560del Single submitter combined oxidative phosphorylation defect type 17
  • p.Leu560Gln Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu576Phe Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu577Val Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu599Pro Single submitter combined oxidative phosphorylation defect type 17 ⚠
  • p.Leu624Trp Single submitter Inborn genetic diseases ⚠