Sugi Variant

Sugi Variant/FOXF1

FOXF1 — 241 ClinVar variants

All ClinVar germline FOXF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

43 Pathogenic · 2 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 6 Conflicting · 17 Benign · 6 Benign/Likely benign · 47 Likely benign · 98 Uncertain significance

Full FOXF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 1

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 13

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

All FOXF1 variants

Pathogenic 43

  • p.Ala231fs Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Gln90Ter Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Glu104Ter Multiple submitters FOXF1-related disorder
  • p.Ser223Ter Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • c.(?_15 Single submitter Idiopathic and/or familial pulmonary arterial hypertension
  • p.Ala268fs Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ala297fs Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ala41fs Single submitter
  • p.Arg86Pro Single submitter
  • p.Cys148fs Single submitter
  • p.Gln62Pro Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Glu129Ter Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Gly20fs Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Lys7fs Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Met26fs Single submitter
  • p.Phe77Leu Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Phe82fs Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Phe82Leu Single submitter
  • p.Ser266Ter Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ter380Arg Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Trp92Ter Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Tyr121Ter Single submitter
  • p.Tyr284_Lys286delinsTer Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Tyr75Ter Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Val96Met Single submitter
  • p.Gln288Ter No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Gly360fs No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.His357fs No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.His98Gln No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ile285fs No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ile74Asn No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Leu290_Ser291insTer No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Phe106Leu No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Phe344fs No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Pro322fs No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Pro49Ala No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Pro49Ser No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser180Ter No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser30Ter No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser64Ter No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser80fs No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ter380Ser No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Tyr284fs No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins

Pathogenic/Likely pathogenic 2

  • p.Leu300fs Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser88fs Multiple submitters FOXF1-related disorders

Likely pathogenic 22

  • p.Leu56Val Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ala60Thr Single submitter FOXF1-related disorders
  • p.Ala60Val Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Arg138Pro Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Arg86Trp Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Asn317fs Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Asn94Tyr Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Gln76fs Single submitter FOXF1-related disorders
  • p.Gly220Cys Single submitter VACTERL/vater association ⚠
  • p.Gly281fs Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ile57Phe Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Leu100Val Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Leu314fs Single submitter
  • p.Phe85Leu Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser101Leu Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser64Leu Single submitter
  • p.Ter380Cys Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Trp92Ser Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Tyr75Asn Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Arg139Gln No assertion criteria pyloric stenosis, infantile hypertrophic, 5
  • p.Tyr89Cys No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Val96Leu No assertion criteria alveolar capillary dysplasia with misalignment of pulmonary veins

Conflicting classifications of pathogenicity 6

  • p.Gly23dup Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Lys108Glu Single submitter ⚠
  • p.Pro116Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro49Leu Single submitter FOXF1-related disorders ⚠
  • p.Ser212= Single submitter alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser333Leu Single submitter Inborn genetic diseases ⚠

Benign 17

Benign/Likely benign 6

  • c.*1176del Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Asn159Ser Multiple submitters
  • p.Asn349= Multiple submitters
  • p.Leu309= Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser291= Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins
  • p.Ser303Asn Multiple submitters alveolar capillary dysplasia with misalignment of pulmonary veins

Likely benign 47

Uncertain significance 98