NDUFAF4 — 110 ClinVar variants
All ClinVar germline NDUFAF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Pathogenic · 6 Conflicting · 16 Benign · 2 Benign/Likely benign · 22 Likely benign · 63 Uncertain significance
Full NDUFAF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- NDUFAF4 p.Lys66Arg Conflicting Single submitter
-
NDUFAF4 p.Phe164Tyr
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
Predictors lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDUFAF4 p.Gln80His Uncertain significance Multiple submitters
-
NDUFAF4 p.Pro90Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDUFAF4 p.Pro96Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDUFAF4 p.Arg56Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFAF4 p.Asn124Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFAF4 p.Asn125Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFAF4 p.Asp71Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFAF4 p.Glu19Lys Uncertain significance Single submitter
-
NDUFAF4 p.Glu92Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFAF4 p.Lys97Glu Uncertain significance Single submitter
-
NDUFAF4 p.Met103Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFAF4 p.Met103Val Uncertain significance Single submitter
- NDUFAF4 p.Phe159Ser Uncertain significance Single submitter
-
NDUFAF4 p.Pro110Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFAF4 p.Pro90Ser
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF4 p.Pro96Thr Uncertain significance Single submitter
-
NDUFAF4 p.Val117Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFAF4 p.Val117Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFAF4 p.Val68Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 5
The independent predictors disagree with each other — read with care.
- NDUFAF4 p.Glu42Gly Uncertain significance Single submitter
-
NDUFAF4 p.Pro75Ala
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NDUFAF4 p.Ser115Cys Uncertain significance Single submitter
-
NDUFAF4 p.Ser151Phe
Conflicting
Single submitter
Inborn genetic diseases
-
NDUFAF4 p.Tyr69Phe
Uncertain significance
Single submitter
Inborn genetic diseases
All NDUFAF4 variants
Pathogenic 1
- p.Leu65Pro No assertion criteria mitochondrial complex I deficiency
Conflicting classifications of pathogenicity 6
- p.Leu40= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Leu62= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Lys66Arg Single submitter ⚠
- p.Phe164Tyr Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Pro90= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ser151Phe Single submitter Inborn genetic diseases ⚠
Benign 16
- c.241-10_241-9dup Multiple submitters
- c.241-18dup Multiple submitters mitochondrial complex I deficiency, nuclear type 15
- c.*301T>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Arg94= Multiple submitters
- p.Gln140= Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Leu144= Multiple submitters mitochondrial complex I deficiency, nuclear type 15
- c.136+149C>T Single submitter
- c.136+309C>T Single submitter
- c.137-331C>G Single submitter
- c.241-18_241-17insA Single submitter
- c.241-9del Single submitter
- c.-312T>C Single submitter
- c.*1443G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*323A>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*332A>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*382T>A Single submitter mitochondrial complex I deficiency, nuclear type 1
Benign/Likely benign 2
Likely benign 22
- c.137-37C>T Multiple submitters
- c.*137A>C Multiple submitters
- c.*350A>C Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*387C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*639A>C Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Ser63= Multiple submitters
- c.136+20T>C Single submitter
- c.137-10C>T Single submitter
- c.137-397T>A Single submitter
- c.240+17_240+20del Single submitter
- c.241-14_241-13insC Single submitter
- c.241-8G>T Single submitter
- c.-25C>T Single submitter
- c.*1062T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1214G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1299G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Asp148= Single submitter
- p.Gln80Lys Single submitter
- p.His99= Single submitter
- p.Leu120= Single submitter
- p.Leu95= Single submitter
- p.Val117= Single submitter
Uncertain significance 63
- c.*1375G>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*1447T>C Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*294T>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Gln80His Multiple submitters ⚠
- p.Pro90Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro96Leu Multiple submitters Inborn genetic diseases ⚠
- c.-20G>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-24C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-33G>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-40C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-49C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-65C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1008T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1121A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1154A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*119T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1203A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1213C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1247A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1334G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1362C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1363G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1368A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1481T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1487A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*14A>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1642T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1671T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1727T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1728G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1748T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*289C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*289C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*305C>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*459A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*482A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*612A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*690G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*782T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*986A>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Arg56Leu Single submitter Inborn genetic diseases ⚠
- p.Arg7Leu Single submitter
- p.Asn124Ser Single submitter Inborn genetic diseases ⚠
- p.Asn125Ser Single submitter Inborn genetic diseases ⚠
- p.Asp71Ala Single submitter Inborn genetic diseases ⚠
- p.Gln140Arg Single submitter
- p.Glu19Lys Single submitter ⚠
- p.Glu42Gly Single submitter ⚠
- p.Glu49fs Single submitter
- p.Glu92Lys Single submitter Inborn genetic diseases ⚠
- p.Lys97Glu Single submitter ⚠
- p.Met103Lys Single submitter Inborn genetic diseases ⚠
- p.Met103Val Single submitter ⚠
- p.Phe159Ser Single submitter ⚠
- p.Pro110Ser Single submitter Inborn genetic diseases ⚠
- p.Pro75Ala Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Pro90Ser Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Pro96Thr Single submitter ⚠
- p.Ser115Cys Single submitter ⚠
- p.Tyr69Phe Single submitter Inborn genetic diseases ⚠
- p.Val117Ala Single submitter Inborn genetic diseases ⚠
- p.Val117Gly Single submitter Inborn genetic diseases ⚠
- p.Val68Met Single submitter Inborn genetic diseases ⚠