Sugi Variant

Sugi Variant/FOXRED1

FOXRED1 — 524 ClinVar variants

All ClinVar germline FOXRED1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →

31 Pathogenic · 7 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 38 Conflicting · 13 Benign · 4 Benign/Likely benign · 254 Likely benign · 152 Uncertain significance

Full FOXRED1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 152

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 2

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 82

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

Predictors split 52

The independent predictors disagree with each other — read with care.

All FOXRED1 variants

Pathogenic 31

Pathogenic/Likely pathogenic 7

  • c.733+1G>A Multiple submitters FOXRED1-related disorders
  • c.86-1G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 19
  • p.Ala206fs Multiple submitters mitochondrial complex I deficiency, nuclear type 19
  • p.Cys331Ter Multiple submitters FOXRED1-related disorders
  • p.Gln368Ter Multiple submitters Inborn genetic diseases
  • p.Glu353Ter Multiple submitters mitochondrial complex I deficiency, nuclear type 19
  • p.Gly292Arg Multiple submitters mitochondrial complex I deficiency, nuclear type 19

Likely pathogenic 25

Conflicting classifications of pathogenicity 38

  • c.307-14T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.417+10A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.537-11G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.632-8_632-6del Single submitter
  • c.-15G>A Single submitter
  • c.-163G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-31A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*85T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ala132Val Single submitter ⚠
  • p.Ala300Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg136Trp Single submitter mitochondrial complex I deficiency, nuclear type 19 ⚠
  • p.Arg228Gln Single submitter ⚠
  • p.Arg228Trp Single submitter mitochondrial complex I deficiency, nuclear type 19 ⚠
  • p.Arg252Cys Single submitter Leigh syndrome ⚠
  • p.Arg252His Single submitter ⚠
  • p.Arg3= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Arg351Cys Single submitter ⚠
  • p.Arg89Gln Single submitter Inborn genetic diseases ⚠
  • p.Gln192Glu Single submitter ⚠
  • p.Gln225His Single submitter Inborn genetic diseases ⚠
  • p.Gln418Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly211Ala Single submitter mitochondrial complex I deficiency ⚠
  • p.Gly24Arg Single submitter ⚠
  • p.Gly307= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Gly307Glu Single submitter mitochondrial complex I deficiency, nuclear type 19 ⚠
  • p.Gly9Arg Single submitter ⚠
  • p.His380Arg Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Leu391Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Lys42Gln Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Pro340= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ser157Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser64= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Thr102Met Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Tyr80Cys Single submitter ⚠
  • p.Val145= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Val145Ala Single submitter Inborn genetic diseases ⚠
  • p.Val145Ile Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Val421Met Single submitter mitochondrial complex I deficiency, nuclear type 19 ⚠

Benign 13

Benign/Likely benign 4

Likely benign 254

Uncertain significance 152