TSFM — 532 ClinVar variants
All ClinVar germline TSFM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
21 Pathogenic · 22 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 21 Conflicting · 16 Benign · 6 Benign/Likely benign · 236 Likely benign · 174 Uncertain significance
Full TSFM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TSFM p.Leu266His
Conflicting
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Pro156Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TSFM p.Val230Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TSFM p.Ala174Ser
Uncertain significance
Multiple submitters
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Ala174Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TSFM p.Ala202Pro Uncertain significance Multiple submitters
-
TSFM p.Ala20Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Ala220Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Ala264Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TSFM p.Ala95Val Uncertain significance Multiple submitters
-
TSFM p.Arg255Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Arg255His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Arg31Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Arg39Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Arg54Gln
Uncertain significance
Multiple submitters
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Arg8Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Asp126Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Asp272His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TSFM p.Cys64Tyr Uncertain significance Multiple submitters
-
TSFM p.Glu69Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Gly108Arg
Uncertain significance
Multiple submitters
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Gly90Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Ile190Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Leu110Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Leu152Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Leu40Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Lys47Arg
Uncertain significance
Multiple submitters
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Lys65Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Met263Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Pro173Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Pro38Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Pro38Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TSFM p.Ser306Leu Uncertain significance Multiple submitters
-
TSFM p.Ser43Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Ser6Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Tyr18Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TSFM p.Tyr234His Uncertain significance Multiple submitters
-
TSFM p.Val213Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TSFM p.Ala13Ser Uncertain significance Single submitter
- TSFM p.Ala158Gly Uncertain significance Single submitter
- TSFM p.Ala20Thr Uncertain significance Single submitter
- TSFM p.Ala236Ser Uncertain significance Single submitter
- TSFM p.Ala264Val Uncertain significance Single submitter
- TSFM p.Ala36Ser Uncertain significance Single submitter
- TSFM p.Ala78Val Uncertain significance Single submitter
- TSFM p.Ala86Val Uncertain significance Single submitter
- TSFM p.Arg130Gly Uncertain significance Single submitter
- TSFM p.Arg178Gly Uncertain significance Single submitter
- TSFM p.Arg254His Uncertain significance Single submitter
- TSFM p.Arg25His Uncertain significance Single submitter
- TSFM p.Arg25Ser Uncertain significance Single submitter
-
TSFM p.Arg312Gln
Uncertain significance
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- TSFM p.Arg312Leu Uncertain significance Single submitter
- TSFM p.Arg8Pro Uncertain significance Single submitter
- TSFM p.Asn114Asp Uncertain significance Single submitter
-
TSFM p.Asn248Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Asp184Val Uncertain significance Single submitter
- TSFM p.Cys240Arg Uncertain significance Single submitter
- TSFM p.Gln140Arg Uncertain significance Single submitter
- TSFM p.Gln185Arg Uncertain significance Single submitter
- TSFM p.Gln298Lys Uncertain significance Single submitter
- TSFM p.Glu278Asp Uncertain significance Single submitter
- TSFM p.Glu314Gly Uncertain significance Single submitter
- TSFM p.Glu320Gly Uncertain significance Single submitter
- TSFM p.Gly210Val Uncertain significance Single submitter
- TSFM p.Gly21Ala Uncertain significance Single submitter
- TSFM p.Gly262Asp Uncertain significance Single submitter
-
TSFM p.Gly276Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Gly304Arg Uncertain significance Single submitter
- TSFM p.Gly318Arg Uncertain significance Single submitter
-
TSFM p.Gly73Glu
Uncertain significance
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- TSFM p.Gly99Glu Uncertain significance Single submitter
- TSFM p.His227Asp Uncertain significance Single submitter
- TSFM p.His259Tyr Uncertain significance Single submitter
- TSFM p.His32Asp Uncertain significance Single submitter
-
TSFM p.Ile107Met
Uncertain significance
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- TSFM p.Ile198Val Uncertain significance Single submitter
- TSFM p.Ile80Thr Uncertain significance Single submitter
- TSFM p.Leu132Phe Uncertain significance Single submitter
-
TSFM p.Leu136Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Leu169Phe Uncertain significance Single submitter
- TSFM p.Leu199Phe Uncertain significance Single submitter
- TSFM p.Leu24Arg Uncertain significance Single submitter
- TSFM p.Leu266Val Uncertain significance Single submitter
- TSFM p.Leu296Met Uncertain significance Single submitter
- TSFM p.Leu4Pro Uncertain significance Single submitter
- TSFM p.Leu82Pro Uncertain significance Single submitter
- TSFM p.Lys192Gln Uncertain significance Single submitter
- TSFM p.Lys228Arg Uncertain significance Single submitter
- TSFM p.Lys52Gln Uncertain significance Single submitter
- TSFM p.Lys65Thr Uncertain significance Single submitter
- TSFM p.Lys84Arg Uncertain significance Single submitter
-
TSFM p.Lys84Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TSFM p.Met146Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Met283Arg Uncertain significance Single submitter
-
TSFM p.Pro30Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Pro30Ser Uncertain significance Single submitter
- TSFM p.Pro38Thr Uncertain significance Single submitter
- TSFM p.Ser181Leu Uncertain significance Single submitter
- TSFM p.Ser285Phe Uncertain significance Single submitter
- TSFM p.Ser41Phe Uncertain significance Single submitter
- TSFM p.Ser6Trp Uncertain significance Single submitter
-
TSFM p.Thr15Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Thr33Ala Uncertain significance Single submitter
-
TSFM p.Trp91Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Tyr18Ser Uncertain significance Single submitter
- TSFM p.Tyr216Ser Uncertain significance Single submitter
-
TSFM p.Tyr234Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Val12Phe Uncertain significance Single submitter
- TSFM p.Val230Met Uncertain significance Single submitter
- TSFM p.Val252Ala Uncertain significance Single submitter
- TSFM p.Val305Met Uncertain significance Single submitter
- TSFM p.Val307Ile Uncertain significance Single submitter
-
TSFM p.Asn122Lys
Uncertain significance
No assertion criteria
TSFM-related disorder
-
TSFM p.Asp251Asn
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Asp291Asn
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Cys123Arg
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Glu323Gly
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Gly276Val
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Leu118Val
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Lys183Glu
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Pro19Thr
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Val252Leu
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Val9Met
Uncertain significance
No assertion criteria
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Predictors split 27
The independent predictors disagree with each other — read with care.
- TSFM p.Cys149Tyr Uncertain significance Multiple submitters
-
TSFM p.Cys64Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TSFM p.Gly219Arg Uncertain significance Multiple submitters
-
TSFM p.Gly73Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Ser215Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Thr242Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TSFM p.Tyr159Asn
Uncertain significance
Multiple submitters
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM c.355G>C
Likely pathogenic
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- TSFM p.Arg201Gln Uncertain significance Single submitter
-
TSFM p.Arg254Cys
Conflicting
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- TSFM p.Asp273Asn Uncertain significance Single submitter
-
TSFM p.Cys240Ser
Conflicting
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- TSFM p.Gln87Arg Uncertain significance Single submitter
-
TSFM p.Glu89Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TSFM p.Gly162Ser
Conflicting
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
-
TSFM p.Gly180Ala
Conflicting
Single submitter
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- TSFM p.Gly262Ala Uncertain significance Single submitter
- TSFM p.Ile107Thr Uncertain significance Single submitter
- TSFM p.Ile239Phe Uncertain significance Single submitter
-
TSFM p.Leu289Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TSFM p.Lys88Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TSFM p.Met283Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TSFM p.Pro287Leu Uncertain significance Single submitter
- TSFM p.Ser167Tyr Uncertain significance Single submitter
-
TSFM p.Ser215Phe
Conflicting
Single submitter
Inborn genetic diseases
- TSFM p.Ser293Phe Uncertain significance Single submitter
- TSFM p.Tyr216Phe Uncertain significance Single submitter
All TSFM variants
Pathogenic 21
- p.Cys123_Glu124delinsTer Single submitter
- p.Gln222Ter Single submitter
- p.Glu179fs Single submitter
- p.Glu250Ter Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ile239fs Single submitter
- p.Leu118fs Single submitter
- p.Leu11fs Single submitter
- p.Leu132Ter Single submitter
- p.Leu199_Lys200insPhePhePhePhePhePheXaaXaaXaaXaaGluArgGluArgGluThrGlyGluGlyGluGlyAspGlyArgGlyArgGlyArgArgGluArgGluArgGluThrGlyGluGlyValGlyAspGlyGluAsnMetIleLeu Single submitter
- p.Leu289fs Single submitter
- p.Lys65fs Single submitter
- p.Phe211fs Single submitter
- p.Phe310fs Single submitter
- p.Pro173fs Single submitter
- p.Ser223fs Single submitter
- p.Ser267fs Single submitter
- p.Ser41fs Single submitter
- p.Thr125fs Single submitter
- p.Tyr159fs Single submitter
- p.Tyr216fs Single submitter
- p.Val307_Val308insTer Single submitter
Pathogenic/Likely pathogenic 22
- c.571+1G>C Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ala13fs Multiple submitters
- p.Arg201fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Arg201Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Arg312Trp Multiple submitters TSFM-related disorder
- p.Asp184fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln135Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln26Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln286Ter Multiple submitters TSFM-related disorder
- p.Gln29Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln303fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln87Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Leu137fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Leu186Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Lys133fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Lys200Ter Multiple submitters
- p.Lys84Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Phe10fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ser181Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ser2Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ser6Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Tyr216Ter Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Likely pathogenic 36
- c.231+1G>A Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.232-2A>G Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.484-1G>A Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.484-1G>T Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.57+1G>A Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Cys315Tyr Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Leu266fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Met1fs Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.231+1G>C Single submitter
- c.355G>C Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- c.360+1G>A Single submitter TSFM-related disorder
- c.360+1G>C Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.483+1G>A Single submitter
- c.483+1G>C Single submitter
- c.484-1003_484-1000dup Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.57+1G>T Single submitter
- c.57+2T>A Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.58-2A>T Single submitter
- p.Ala187fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Arg25fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Arg312fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Arg39fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Cys64Ter Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln139fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln258His Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gln286Arg Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Glu278fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gly210fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Leu143_Gly144delinsTer Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Leu75fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Lys47Ter Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Met1Arg Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ser270fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Trp204Ter Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Tyr59_Asn63delinsTer Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Val128fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Conflicting classifications of pathogenicity 21
- c.231+1GT[6] Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.361-12T>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.361-14A>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.484-11C>T Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.58-2A>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*210G>A Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Arg254Cys Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Arg8= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Asp272= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Cys240Ser Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Gly16= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gly162Ser Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Gly180Ala Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Leu266His Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Met1Thr Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Met1Val Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Pro156Leu Single submitter Inborn genetic diseases ⚠
- p.Ser215Phe Single submitter Inborn genetic diseases ⚠
- p.Ter326= Single submitter
- p.Val230Leu Single submitter Inborn genetic diseases ⚠
- c.57+4A>G No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Benign 16
- c.231+226G>A Multiple submitters
- c.231+25C>T Multiple submitters
- c.484-996T>C Multiple submitters
- c.484-999A>T Multiple submitters
- c.*114G>A Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*33G>A Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*997G>C Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Phe10= Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ser2Leu Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.484-174A>G Single submitter
- c.484-175C>T Single submitter
- c.484-236G>A Single submitter
- c.484-947A>G Single submitter
- c.484-963T>C Single submitter
- c.572-11del Single submitter
- c.*958C>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Benign/Likely benign 6
- c.232-19T>G Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.484-977A>G Multiple submitters
- p.Arg39= Multiple submitters
- p.Leu266Ile Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Trp91Gly Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Val252Ile Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Likely benign 236
- c.231+1GT[4] Multiple submitters
- c.232-20T>C Multiple submitters
- c.361-20A>G Multiple submitters
- c.483+18C>T Multiple submitters
- c.484-6A>G Multiple submitters
- c.57+15T>C Multiple submitters
- c.58-14C>T Multiple submitters
- c.58-19C>T Multiple submitters
- c.58-96A>G Multiple submitters
- p.Ala158= Multiple submitters
- p.His218= Multiple submitters
- p.Lys101= Multiple submitters
- p.Lys84= Multiple submitters
- p.Pro265= Multiple submitters
- p.Pro38= Multiple submitters
- p.Ser157= Multiple submitters
- p.Ser181= Multiple submitters
- c.231+12G>A Single submitter
- c.231+12G>C Single submitter
- c.231+14G>T Single submitter
- c.231+16G>T Single submitter
- c.231+17_231+37del Single submitter
- c.231+18T>A Single submitter
- c.231+7G>A Single submitter
- c.232-10C>T Single submitter
- c.232-11T>C Single submitter
- c.232-12C>G Single submitter
- c.232-13T>C Single submitter
- c.232-14del Single submitter
- c.232-16T>G Single submitter
- c.232-18T>G Single submitter
- c.232-210G>A Single submitter
- c.232-260C>T Single submitter
- c.232-9A>C Single submitter
- c.360+12G>A Single submitter
- c.360+14A>G Single submitter
- c.360+15A>C Single submitter
- c.360+17T>A Single submitter
- c.360+19del Single submitter
- c.360+20A>G Single submitter
- c.360+7T>C Single submitter
- c.360+8G>T Single submitter
- c.360+9_360+11del Single submitter
- c.360+9T>C Single submitter
- c.361-11dup Single submitter
- c.361-13T>C Single submitter
- c.361-18A>G Single submitter
- c.361-4A>G Single submitter
- c.361-5C>T Single submitter
- c.361-7C>G Single submitter
- c.361-7C>T Single submitter
- c.361-8T>A Single submitter
- c.361-8T>G Single submitter
- c.483+11G>A Single submitter
- c.483+13T>G Single submitter
- c.483+18C>A Single submitter
- c.483+3_483+8dup Single submitter
- c.483+7T>C Single submitter
- c.483+9G>C Single submitter
- c.484-1033G>A Single submitter
- c.484-10G>A Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.484-10G>T Single submitter
- c.484-14C>A Single submitter
- c.484-14C>T Single submitter
- c.484-295T>C Single submitter
- c.484-4T>G Single submitter
- c.484-5C>T Single submitter
- c.484-6A>C Single submitter
- c.484-7C>T Single submitter
- c.484-8G>A Single submitter
- c.484-939C>T Single submitter
- c.57+13G>A Single submitter
- c.57+13G>C Single submitter
- c.57+17C>T Single submitter
- c.57+20G>T Single submitter
- c.57+6_57+7insCTC Single submitter
- c.57+7A>G Single submitter
- c.57+7A>T Single submitter
- c.57+8G>A Single submitter
- c.571+11G>C Single submitter
- c.571+11G>T Single submitter
- c.571+16G>C Single submitter
- c.571+17G>A Single submitter
- c.571+9T>C Single submitter
- c.572-10G>A Single submitter
- c.572-12T>G Single submitter
- c.572-16G>A Single submitter
- c.572-4A>T Single submitter
- c.572-8T>A Single submitter
- c.572-8T>G Single submitter
- c.572-9_572-8insATT Single submitter
- c.58-15_58-12del Single submitter
- c.58-18C>T Single submitter
- c.58-18del Single submitter
- c.58-4C>A Single submitter
- c.58-4C>G Single submitter
- c.58-4C>T Single submitter
- c.58-5T>C Single submitter
- c.58-7_58-3del Single submitter
- c.58-7C>T Single submitter
- c.58-8_58-7del Single submitter
- c.58-8T>A Single submitter
- c.58-9C>T Single submitter
- c.-8C>A Single submitter
- p.Ala142= Single submitter
- p.Ala187= Single submitter
- p.Ala202= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ala203= Single submitter
- p.Ala236= Single submitter
- p.Ala264= Single submitter
- p.Ala36= Single submitter
- p.Ala42= Single submitter
- p.Ala44= Single submitter
- p.Ala67= Single submitter
- p.Ala78= Single submitter
- p.Ala95= Single submitter
- p.Arg14= Single submitter
- p.Arg201= Single submitter
- p.Arg254= Single submitter
- p.Arg5= Single submitter
- p.Asn165= Single submitter
- p.Asn63= Single submitter
- p.Asp126= Single submitter
- p.Asp177= Single submitter
- p.Asp251= Single submitter
- p.Asp273= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Asp309= Single submitter
- p.Gln139= Single submitter
- p.Gln26= Single submitter
- p.Gln298= Single submitter
- p.Gln87= Single submitter
- p.Glu124= Single submitter
- p.Glu179= Single submitter
- p.Glu244= Single submitter
- p.Glu280= Single submitter
- p.Glu317= Single submitter
- p.Glu325= Single submitter
- p.Glu69= Single submitter
- p.Gly105= Single submitter
- p.Gly108= Single submitter
- p.Gly162= Single submitter
- p.Gly171Glu Single submitter Inborn genetic diseases
- p.Gly180= Single submitter
- p.Gly191= Single submitter
- p.Gly194= Single submitter
- p.Gly214= Single submitter
- p.Gly253= Single submitter
- p.Gly262= Single submitter
- p.Gly297= Single submitter
- p.Gly37= Single submitter
- p.Gly73= Single submitter
- p.Gly90= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.His148= Single submitter
- p.His83= Single submitter
- p.Ile107= Single submitter
- p.Ile294= Single submitter
- p.Ile80= Single submitter
- p.Leu106= Single submitter
- p.Leu11= Single submitter
- p.Leu110= Single submitter
- p.Leu118= Single submitter
- p.Leu136= Single submitter
- p.Leu152= Single submitter
- p.Leu172= Single submitter
- p.Leu182= Single submitter
- p.Leu23= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Leu231= Single submitter
- p.Leu237= Single submitter
- p.Leu284= Single submitter
- p.Leu289= Single submitter
- p.Leu3= Single submitter
- p.Leu4= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Leu49= Single submitter
- p.Leu50= Single submitter
- p.Leu53= Single submitter
- p.Leu68= Single submitter
- p.Leu7= Single submitter
- p.Leu75= Single submitter
- p.Leu97= Single submitter
- p.Lys103= Single submitter
- p.Lys153= Single submitter
- p.Lys183= Single submitter
- p.Lys228= Single submitter
- p.Lys233= Single submitter
- p.Lys282= Single submitter
- p.Lys47= Single submitter
- p.Lys65= Single submitter
- p.Lys96= Single submitter
- p.Phe163= Single submitter
- p.Phe310= Single submitter
- p.Phe34= Single submitter
- p.Pro156= Single submitter
- p.Pro208= Single submitter
- p.Pro224= Single submitter
- p.Pro28= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Pro287= Single submitter
- p.Pro292= Single submitter
- p.Ser129= Single submitter
- p.Ser166= Single submitter
- p.Ser17= Single submitter
- p.Ser2= Single submitter
- p.Ser209Ala Single submitter Inborn genetic diseases
- p.Ser225= Single submitter
- p.Ser293= Single submitter
- p.Ser306= Single submitter
- p.Ser41= Single submitter
- p.Ser60= Single submitter
- p.Ser92= Single submitter
- p.Thr115= Single submitter
- p.Thr116= Single submitter
- p.Thr145= Single submitter
- p.Thr15= Single submitter
- p.Thr151= Single submitter
- p.Thr242= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Thr295= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Thr324= Single submitter
- p.Thr33= Single submitter
- p.Thr57= Single submitter
- p.Thr70= Single submitter
- p.Tyr159= Single submitter
- p.Tyr212= Single submitter
- p.Tyr216= Single submitter
- p.Tyr234= Single submitter
- p.Tyr299= Single submitter
- p.Tyr35= Single submitter
- p.Tyr59= Single submitter
- p.Val119= Single submitter
- p.Val12= Single submitter
- p.Val138= Single submitter
- p.Val230= Single submitter
- p.Val238= Single submitter
- p.Val260= Single submitter
- p.Val268= Single submitter
- p.Val305= Single submitter
- p.Val9= Single submitter
- p.Gly197= No assertion criteria TSFM-related disorder
Uncertain significance 174
- p.Ala174Ser Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Ala174Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala202Pro Multiple submitters ⚠
- p.Ala20Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala220Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala264Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala95Val Multiple submitters ⚠
- p.Arg255Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg255His Multiple submitters Inborn genetic diseases ⚠
- p.Arg31Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg39Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg54Gln Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Arg8Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp126Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp272His Multiple submitters Inborn genetic diseases ⚠
- p.Cys149Tyr Multiple submitters ⚠
- p.Cys64Ser Multiple submitters Inborn genetic diseases ⚠
- p.Cys64Tyr Multiple submitters ⚠
- p.Glu69Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly108Arg Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Gly219Arg Multiple submitters ⚠
- p.Gly73Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly90Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile190Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu110Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu152Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu40Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys47Arg Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Lys65Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met263Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro173Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro38Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro38Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser215Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser306Leu Multiple submitters ⚠
- p.Ser43Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser6Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr242Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr159Asn Multiple submitters fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Tyr18Phe Multiple submitters Inborn genetic diseases ⚠
- p.Tyr234His Multiple submitters ⚠
- p.Val213Ile Multiple submitters Inborn genetic diseases ⚠
- c.232-3C>T Single submitter
- c.232-8A>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.361-3C>T Single submitter
- c.*176T>C Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*182T>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*20C>T Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*262T>A Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*291T>C Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*381C>T Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*412C>T Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*461T>C Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*491G>A Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*554A>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*558C>T Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*561A>C Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*656A>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*866T>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*895A>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- c.*98A>G Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Ala13Ser Single submitter ⚠
- p.Ala158Gly Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala236Ser Single submitter ⚠
- p.Ala264Val Single submitter ⚠
- p.Ala36Ser Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Arg130Gly Single submitter ⚠
- p.Arg178Gly Single submitter ⚠
- p.Arg201Gln Single submitter ⚠
- p.Arg254His Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Arg25Ser Single submitter ⚠
- p.Arg312Gln Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Arg312Leu Single submitter ⚠
- p.Arg8Pro Single submitter ⚠
- p.Asn114Asp Single submitter ⚠
- p.Asn248Ile Single submitter Inborn genetic diseases ⚠
- p.Asp184Val Single submitter ⚠
- p.Asp273Asn Single submitter ⚠
- p.Cys240Arg Single submitter ⚠
- p.Gln140Arg Single submitter ⚠
- p.Gln185Arg Single submitter ⚠
- p.Gln298Lys Single submitter ⚠
- p.Gln87Arg Single submitter ⚠
- p.Glu278Asp Single submitter ⚠
- p.Glu314Gly Single submitter ⚠
- p.Glu320Gly Single submitter ⚠
- p.Glu89Gly Single submitter Inborn genetic diseases ⚠
- p.Gly210Val Single submitter ⚠
- p.Gly21Ala Single submitter ⚠
- p.Gly262Ala Single submitter ⚠
- p.Gly262Asp Single submitter ⚠
- p.Gly276Arg Single submitter Inborn genetic diseases ⚠
- p.Gly277fs Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Gly304Arg Single submitter ⚠
- p.Gly304Trp Single submitter
- p.Gly318Arg Single submitter ⚠
- p.Gly73Glu Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Gly99Glu Single submitter ⚠
- p.His227Asp Single submitter ⚠
- p.His259Tyr Single submitter ⚠
- p.His32Asp Single submitter ⚠
- p.Ile107Met Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile198Val Single submitter ⚠
- p.Ile239Phe Single submitter ⚠
- p.Ile80Thr Single submitter ⚠
- p.Leu132Phe Single submitter ⚠
- p.Leu136Arg Single submitter Inborn genetic diseases ⚠
- p.Leu169Phe Single submitter ⚠
- p.Leu186= Single submitter
- p.Leu199Phe Single submitter ⚠
- p.Leu24Arg Single submitter ⚠
- p.Leu266Val Single submitter ⚠
- p.Leu289Phe Single submitter Inborn genetic diseases ⚠
- p.Leu296Met Single submitter ⚠
- p.Leu4Pro Single submitter ⚠
- p.Leu7_Arg8insLeuArgSerLeu Single submitter
- p.Leu82Pro Single submitter ⚠
- p.Lys192Gln Single submitter ⚠
- p.Lys228Arg Single submitter ⚠
- p.Lys233fs Single submitter
- p.Lys52Gln Single submitter ⚠
- p.Lys65Thr Single submitter ⚠
- p.Lys84Arg Single submitter ⚠
- p.Lys84Glu Single submitter Inborn genetic diseases ⚠
- p.Lys88Asn Single submitter Inborn genetic diseases ⚠
- p.Lys96Glu Single submitter
- p.Met146Ile Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter
- p.Met1Leu Single submitter
- p.Met283Arg Single submitter ⚠
- p.Met283Ile Single submitter Inborn genetic diseases ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro30Leu Single submitter Inborn genetic diseases ⚠
- p.Pro30Ser Single submitter ⚠
- p.Pro38Thr Single submitter ⚠
- p.Ser167Tyr Single submitter ⚠
- p.Ser181Leu Single submitter ⚠
- p.Ser285Phe Single submitter ⚠
- p.Ser293Phe Single submitter ⚠
- p.Ser41Phe Single submitter ⚠
- p.Ser6Trp Single submitter ⚠
- p.Thr125= Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Thr15Ile Single submitter Inborn genetic diseases ⚠
- p.Thr33Ala Single submitter ⚠
- p.Trp81Ter Single submitter fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Trp91Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr18Ser Single submitter ⚠
- p.Tyr216Phe Single submitter ⚠
- p.Tyr216Ser Single submitter ⚠
- p.Tyr234Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr59Cys Single submitter
- p.Val12Phe Single submitter ⚠
- p.Val230Met Single submitter ⚠
- p.Val252Ala Single submitter ⚠
- p.Val305Met Single submitter ⚠
- p.Val307Ile Single submitter ⚠
- p.Asn122Lys No assertion criteria TSFM-related disorder ⚠
- p.Asp251Asn No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Asp291Asn No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Cys123Arg No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Glu323Gly No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Gly276Val No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Leu118Val No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Lys183Glu No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Phe163Ser No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Pro19Thr No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Ser27= No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- p.Val252Leu No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠
- p.Val9Met No assertion criteria fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ⚠