NDUFAF1 — 189 ClinVar variants
All ClinVar germline NDUFAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 12 Benign · 5 Benign/Likely benign · 35 Likely benign · 125 Uncertain significance
Full NDUFAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 105
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NDUFAF1 p.Arg179Gln
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NDUFAF1 p.Arg211Cys
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 11
- NDUFAF1 p.His309Pro Conflicting Single submitter
- NDUFAF1 p.Lys48Arg Conflicting Single submitter
-
NDUFAF1 p.Met236Ile
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NDUFAF1 p.Thr72Ser
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDUFAF1 p.Ala121Gly Uncertain significance Multiple submitters
-
NDUFAF1 p.Ala171Val
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 11
- NDUFAF1 p.Ala90Thr Uncertain significance Multiple submitters
- NDUFAF1 p.Arg213His Uncertain significance Multiple submitters
- NDUFAF1 p.Arg268Trp Uncertain significance Multiple submitters
- NDUFAF1 p.Arg31Cys Uncertain significance Multiple submitters
-
NDUFAF1 p.Arg87Gly
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 11
-
NDUFAF1 p.Arg95Lys
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
-
NDUFAF1 p.Asn234Ser
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Asn317Asp Uncertain significance Multiple submitters
- NDUFAF1 p.Asp103Glu Uncertain significance Multiple submitters
- NDUFAF1 p.Asp201Asn Uncertain significance Multiple submitters
-
NDUFAF1 p.Asp83Glu
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Gln231Arg Uncertain significance Multiple submitters
- NDUFAF1 p.Glu320Lys Uncertain significance Multiple submitters
-
NDUFAF1 p.Gly245Arg
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 11
- NDUFAF1 p.His5Tyr Uncertain significance Multiple submitters
- NDUFAF1 p.Ile298Thr Uncertain significance Multiple submitters
-
NDUFAF1 p.Ile301Phe
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency
- NDUFAF1 p.Leu321Phe Uncertain significance Multiple submitters
-
NDUFAF1 p.Lys153Glu
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 11
- NDUFAF1 p.Lys278Arg Uncertain significance Multiple submitters
-
NDUFAF1 p.Met185Val
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Thr143Met Uncertain significance Multiple submitters
- NDUFAF1 p.Thr21Ala Uncertain significance Multiple submitters
- NDUFAF1 p.Thr233Met Uncertain significance Multiple submitters
- NDUFAF1 p.Trp219Ser Uncertain significance Multiple submitters
- NDUFAF1 p.Tyr12Cys Uncertain significance Multiple submitters
-
NDUFAF1 p.Val67Ile
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 11
- NDUFAF1 p.Ala171Thr Uncertain significance Single submitter
- NDUFAF1 p.Arg213Leu Uncertain significance Single submitter
- NDUFAF1 p.Arg244Cys Uncertain significance Single submitter
- NDUFAF1 p.Arg264Gln Uncertain significance Single submitter
- NDUFAF1 p.Arg264Gly Uncertain significance Single submitter
- NDUFAF1 p.Arg268Gln Uncertain significance Single submitter
- NDUFAF1 p.Arg31His Uncertain significance Single submitter
- NDUFAF1 p.Asn222Asp Uncertain significance Single submitter
- NDUFAF1 p.Asp132Ala Uncertain significance Single submitter
- NDUFAF1 p.Asp291Tyr Uncertain significance Single submitter
- NDUFAF1 p.Asp58Tyr Uncertain significance Single submitter
- NDUFAF1 p.Asp62Ala Uncertain significance Single submitter
- NDUFAF1 p.Asp70His Uncertain significance Single submitter
- NDUFAF1 p.Asp88Asn Uncertain significance Single submitter
- NDUFAF1 p.Cys183Trp Uncertain significance Single submitter
- NDUFAF1 p.Glu131Asp Uncertain significance Single submitter
- NDUFAF1 p.Glu251Asp Uncertain significance Single submitter
- NDUFAF1 p.Glu311Gly Uncertain significance Single submitter
- NDUFAF1 p.Glu56Ala Uncertain significance Single submitter
- NDUFAF1 p.Gly129Arg Uncertain significance Single submitter
- NDUFAF1 p.Gly214Ala Uncertain significance Single submitter
- NDUFAF1 p.Gly292Val Uncertain significance Single submitter
- NDUFAF1 p.Ile91Val Uncertain significance Single submitter
- NDUFAF1 p.Leu133Val Uncertain significance Single submitter
- NDUFAF1 p.Leu14Val Uncertain significance Single submitter
- NDUFAF1 p.Leu59Phe Uncertain significance Single submitter
- NDUFAF1 p.Leu97Trp Uncertain significance Single submitter
-
NDUFAF1 p.Lys253Arg
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 11
- NDUFAF1 p.Lys98Arg Uncertain significance Single submitter
- NDUFAF1 p.Met198Ile Uncertain significance Single submitter
- NDUFAF1 p.Met236Leu Uncertain significance Single submitter
- NDUFAF1 p.Met241Thr Uncertain significance Single submitter
-
NDUFAF1 p.Met241Val
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Pro108Arg Uncertain significance Single submitter
- NDUFAF1 p.Pro108Leu Uncertain significance Single submitter
- NDUFAF1 p.Ser148Ile Uncertain significance Single submitter
- NDUFAF1 p.Ser177Ala Uncertain significance Single submitter
-
NDUFAF1 p.Ser180Gly
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Ser180Thr Uncertain significance Single submitter
- NDUFAF1 p.Ser18Cys Uncertain significance Single submitter
- NDUFAF1 p.Ser238Gly Uncertain significance Single submitter
- NDUFAF1 p.Ser50Phe Uncertain significance Single submitter
- NDUFAF1 p.Ser73Cys Uncertain significance Single submitter
- NDUFAF1 p.Ser74Phe Uncertain significance Single submitter
- NDUFAF1 p.Thr11Ala Uncertain significance Single submitter
-
NDUFAF1 p.Thr21Ser
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Thr72Ile Uncertain significance Single submitter
- NDUFAF1 p.Val116Phe Uncertain significance Single submitter
- NDUFAF1 p.Val124Leu Uncertain significance Single submitter
-
NDUFAF1 p.Val80Leu
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
Predictors split 20
The independent predictors disagree with each other — read with care.
-
NDUFAF1 p.Ala314Gly
Benign
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Arg128Trp Uncertain significance Multiple submitters
-
NDUFAF1 p.Asp215Asn
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.His309Asp Benign Multiple submitters
- NDUFAF1 p.Ile298Met Uncertain significance Multiple submitters
- NDUFAF1 p.Lys289Glu Uncertain significance Multiple submitters
-
NDUFAF1 p.Val123Ala
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF1 p.Arg211His Uncertain significance Single submitter
- NDUFAF1 p.Arg244His Uncertain significance Single submitter
- NDUFAF1 p.Asn157Lys Uncertain significance Single submitter
- NDUFAF1 p.Asn206Ser Uncertain significance Single submitter
- NDUFAF1 p.Ile279Thr Uncertain significance Single submitter
- NDUFAF1 p.Leu208Met Uncertain significance Single submitter
- NDUFAF1 p.Leu210Val Uncertain significance Single submitter
- NDUFAF1 p.Lys224Asn Uncertain significance Single submitter
- NDUFAF1 p.Met220Val Uncertain significance Single submitter
- NDUFAF1 p.Phe284Val Uncertain significance Single submitter
- NDUFAF1 p.Pro247Ala Likely benign Single submitter
- NDUFAF1 p.Ser262Cys Uncertain significance Single submitter
- NDUFAF1 p.Ser262Phe Uncertain significance Single submitter
All NDUFAF1 variants
Pathogenic 3
- p.Met1Thr Single submitter
- p.Thr178fs Single submitter
- p.Thr207Pro No assertion criteria mitochondrial complex I deficiency, nuclear type 11
Likely pathogenic 1
- p.Arg217Gln Single submitter
Conflicting classifications of pathogenicity 8
- c.-6T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Arg179Gln Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Arg211Cys Single submitter mitochondrial complex I deficiency, nuclear type 11 ⚠
- p.His309Pro Single submitter ⚠
- p.Lys48Arg Single submitter ⚠
- p.Met236Ile Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Thr285= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Thr72Ser Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
Benign 12
- p.Ala314Gly Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Arg31Leu Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Arg9His Multiple submitters mitochondrial complex I deficiency, nuclear type 11
- p.His309Asp Multiple submitters ⚠
- p.Val303= Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.574-301A>T Single submitter
- c.759+163G>A Single submitter
- c.-81-176G>A Single submitter
- c.-82+137del Single submitter
- c.-82+143C>T Single submitter
- p.Ala49= Single submitter
- p.Gly302= Single submitter
Benign/Likely benign 5
- c.760-19A>T Multiple submitters
- c.-379C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.-386A>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Glu176Lys Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Ile186Met Multiple submitters mitochondrial complex I deficiency, nuclear type 1
Likely benign 35
- p.Gly181= Multiple submitters
- c.759+207T>C Single submitter
- c.834+15dup Single submitter
- c.-20C>G Single submitter
- c.-75T>C Single submitter
- c.-76A>G Single submitter
- c.-81-272C>G Single submitter
- c.-81-325T>C Single submitter
- c.-81-8T>C Single submitter
- c.-82+33_-82+36del Single submitter
- p.Ala33= Single submitter
- p.Arg106= Single submitter
- p.Arg217= Single submitter
- p.Arg232= Single submitter
- p.Arg324= Single submitter
- p.Asp174= Single submitter
- p.Asp226= Single submitter
- p.His104= Single submitter
- p.Leu113= Single submitter
- p.Leu24Met Single submitter
- p.Lys19= Single submitter
- p.Phe194= Single submitter
- p.Phe242= Single submitter
- p.Phe256= Single submitter
- p.Phe300= Single submitter
- p.Phe82= Single submitter
- p.Pro108= Single submitter
- p.Pro20= Single submitter
- p.Pro247Ala Single submitter ⚠
- p.Pro307Thr Single submitter
- p.Ser199= Single submitter
- p.Thr233= Single submitter
- p.Tyr200= Single submitter
- p.Val252= Single submitter
- p.Arg196= No assertion criteria NDUFAF1-related disorder
Uncertain significance 125
- p.Ala121Gly Multiple submitters ⚠
- p.Ala171Val Multiple submitters mitochondrial complex I deficiency, nuclear type 11 ⚠
- p.Ala90Thr Multiple submitters ⚠
- p.Arg128Trp Multiple submitters ⚠
- p.Arg179Pro Multiple submitters
- p.Arg213His Multiple submitters ⚠
- p.Arg268Trp Multiple submitters ⚠
- p.Arg31Cys Multiple submitters ⚠
- p.Arg87Gly Multiple submitters mitochondrial complex I deficiency, nuclear type 11 ⚠
- p.Arg95Lys Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Asn234Ser Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Asn317Asp Multiple submitters ⚠
- p.Asp103Glu Multiple submitters ⚠
- p.Asp201Asn Multiple submitters ⚠
- p.Asp215Asn Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Asp83Glu Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Gln231Arg Multiple submitters ⚠
- p.Glu320Lys Multiple submitters ⚠
- p.Gly245Arg Multiple submitters mitochondrial complex I deficiency, nuclear type 11 ⚠
- p.His5Tyr Multiple submitters ⚠
- p.Ile298Met Multiple submitters ⚠
- p.Ile298Thr Multiple submitters ⚠
- p.Ile301Phe Multiple submitters mitochondrial complex I deficiency ⚠
- p.Leu321Phe Multiple submitters ⚠
- p.Lys153Glu Multiple submitters mitochondrial complex I deficiency, nuclear type 11 ⚠
- p.Lys278Arg Multiple submitters ⚠
- p.Lys289Glu Multiple submitters ⚠
- p.Met185Val Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Thr143Met Multiple submitters ⚠
- p.Thr21Ala Multiple submitters ⚠
- p.Thr233Met Multiple submitters ⚠
- p.Trp219Ser Multiple submitters ⚠
- p.Tyr12Cys Multiple submitters ⚠
- p.Tyr209fs Multiple submitters mitochondrial complex I deficiency, nuclear type 11
- p.Val123Ala Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Val67Ile Multiple submitters mitochondrial complex I deficiency, nuclear type 11 ⚠
- c.760-6_760-3del Single submitter
- c.834+1G>T Single submitter
- c.835-14T>C Single submitter
- c.-137C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-140C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-165C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-180C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-192T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-205G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-242G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-293C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-312T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-34C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-352C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ala171Thr Single submitter ⚠
- p.Arg211His Single submitter ⚠
- p.Arg213Leu Single submitter ⚠
- p.Arg244Cys Single submitter ⚠
- p.Arg244His Single submitter ⚠
- p.Arg264Gln Single submitter ⚠
- p.Arg264Gly Single submitter ⚠
- p.Arg264Ter Single submitter
- p.Arg268Gln Single submitter ⚠
- p.Arg31His Single submitter ⚠
- p.Asn157Lys Single submitter ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asn222Asp Single submitter ⚠
- p.Asp132Ala Single submitter ⚠
- p.Asp174Glu Single submitter
- p.Asp291Tyr Single submitter ⚠
- p.Asp58Tyr Single submitter ⚠
- p.Asp62Ala Single submitter ⚠
- p.Asp70His Single submitter ⚠
- p.Asp88Asn Single submitter ⚠
- p.Cys183Trp Single submitter ⚠
- p.Glu131Asp Single submitter ⚠
- p.Glu251Asp Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu56Ala Single submitter ⚠
- p.Gly110_His111insTer Single submitter
- p.Gly129Arg Single submitter ⚠
- p.Gly175Arg Single submitter
- p.Gly214Ala Single submitter ⚠
- p.Gly292Val Single submitter ⚠
- p.Ile279Thr Single submitter ⚠
- p.Ile91Val Single submitter ⚠
- p.Leu133Val Single submitter ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu208Met Single submitter ⚠
- p.Leu210Phe Single submitter
- p.Leu210Val Single submitter ⚠
- p.Leu59Phe Single submitter ⚠
- p.Leu97Trp Single submitter ⚠
- p.Lys224Asn Single submitter ⚠
- p.Lys253Arg Single submitter mitochondrial complex I deficiency, nuclear type 11 ⚠
- p.Lys98Arg Single submitter ⚠
- p.Met198Ile Single submitter ⚠
- p.Met220Val Single submitter ⚠
- p.Met236Leu Single submitter ⚠
- p.Met241Thr Single submitter ⚠
- p.Met241Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Phe151Val Single submitter
- p.Phe284Val Single submitter ⚠
- p.Pro108Arg Single submitter ⚠
- p.Pro108Leu Single submitter ⚠
- p.Pro46del Single submitter
- p.Ser148Ile Single submitter ⚠
- p.Ser177Ala Single submitter ⚠
- p.Ser180Gly Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Ser180Thr Single submitter ⚠
- p.Ser18Cys Single submitter ⚠
- p.Ser238Gly Single submitter ⚠
- p.Ser262Cys Single submitter ⚠
- p.Ser262Phe Single submitter ⚠
- p.Ser50Phe Single submitter ⚠
- p.Ser51del Single submitter
- p.Ser73Cys Single submitter ⚠
- p.Ser74Phe Single submitter ⚠
- p.Thr11Ala Single submitter ⚠
- p.Thr139Ile Single submitter
- p.Thr143= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Thr21Ser Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Thr72Ile Single submitter ⚠
- p.Trp136Ter Single submitter
- p.Val116Phe Single submitter ⚠
- p.Val124Leu Single submitter ⚠
- p.Val290= Single submitter
- p.Val303Met Single submitter
- p.Val80Leu Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠