Sugi Variant

Sugi Variant/FAN1

FAN1 — 580 ClinVar variants

All ClinVar germline FAN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 273 flagged for review →

22 Pathogenic · 8 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 17 Conflicting · 56 Benign · 19 Benign/Likely benign · 119 Likely benign · 304 Uncertain significance

Full FAN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 273

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 9

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

Predictors lean, ClinVar uncertain 225

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 225

Predictors split 39

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

All FAN1 variants

Pathogenic 22

  • p.Asp873fs Multiple submitters karyomegalic interstitial nephritis
  • p.Gln457Ter Multiple submitters karyomegalic interstitial nephritis
  • p.Leu925fs Multiple submitters karyomegalic interstitial nephritis
  • p.Trp707Ter Multiple submitters FAN1-related disorders
  • p.Arg536Ter Single submitter
  • p.Asn108fs Single submitter karyomegalic interstitial nephritis
  • p.Asp96_Val97insTer Single submitter
  • p.Gln368Ter Single submitter karyomegalic interstitial nephritis
  • p.Gln494Ter Single submitter karyomegalic interstitial nephritis
  • p.Gln568Ter Single submitter karyomegalic interstitial nephritis
  • p.Gln748fs Single submitter Inborn genetic diseases
  • p.Gln864Ter Single submitter karyomegalic interstitial nephritis
  • p.Gly663fs Single submitter karyomegalic interstitial nephritis
  • p.His324fs Single submitter
  • p.Leu653fs Single submitter
  • p.Lys101fs Single submitter
  • p.Ser361Ter Single submitter karyomegalic interstitial nephritis
  • p.Thr808fs Single submitter Inborn genetic diseases
  • c.1234+2T>A No assertion criteria karyomegalic interstitial nephritis
  • p.Arg679fs No assertion criteria karyomegalic interstitial nephritis
  • p.Gly937Arg No assertion criteria karyomegalic interstitial nephritis
  • p.Met86fs No assertion criteria karyomegalic interstitial nephritis

Pathogenic/Likely pathogenic 8

  • c.1375+1G>A Multiple submitters karyomegalic interstitial nephritis
  • c.1943+1G>A Multiple submitters karyomegalic interstitial nephritis
  • p.Arg710Ter Multiple submitters karyomegalic interstitial nephritis
  • p.Arg749Ter Multiple submitters karyomegalic interstitial nephritis
  • p.Arg754Ter Multiple submitters karyomegalic interstitial nephritis
  • p.Cys47Ter Multiple submitters karyomegalic interstitial nephritis
  • p.Cys633fs Multiple submitters kidney failure
  • p.Val308fs Multiple submitters karyomegalic interstitial nephritis

Likely pathogenic 35

  • p.Lys11fs Multiple submitters karyomegalic interstitial nephritis
  • c.2489-1G>A Single submitter karyomegalic interstitial nephritis
  • c.2916+2T>G Single submitter karyomegalic interstitial nephritis
  • p.Ala620fs Single submitter karyomegalic interstitial nephritis
  • p.Arg697fs Single submitter karyomegalic interstitial nephritis
  • p.Arg706Ter Single submitter karyomegalic interstitial nephritis
  • p.Arg952fs Single submitter karyomegalic interstitial nephritis
  • p.Asn965fs Single submitter karyomegalic interstitial nephritis
  • p.Asp848fs Single submitter karyomegalic interstitial nephritis
  • p.Cys218fs Single submitter karyomegalic interstitial nephritis
  • p.Gln315Ter Single submitter karyomegalic interstitial nephritis
  • p.Gln632Ter Single submitter FAN1-related disorders
  • p.Gln696Ter Single submitter karyomegalic interstitial nephritis
  • p.Gln767Ter Single submitter karyomegalic interstitial nephritis
  • p.Gln929Pro Single submitter
  • p.Glu120fs Single submitter karyomegalic interstitial nephritis
  • p.Glu291Ter Single submitter karyomegalic interstitial nephritis
  • p.Leu159fs Single submitter karyomegalic interstitial nephritis
  • p.Leu264fs Single submitter karyomegalic interstitial nephritis
  • p.Leu465_Ser466insTer Single submitter FAN1-related disorders
  • p.Lys10Ter Single submitter karyomegalic interstitial nephritis
  • p.Met558fs Single submitter FAN1-related disorders
  • p.Met582fs Single submitter karyomegalic interstitial nephritis
  • p.Phe971_Lys972delinsTer Single submitter karyomegalic interstitial nephritis
  • p.Pro111fs Single submitter karyomegalic interstitial nephritis
  • p.Ser116fs Single submitter karyomegalic interstitial nephritis
  • p.Ser197Ter Single submitter karyomegalic interstitial nephritis
  • p.Ser323fs Single submitter FAN1-related disorders
  • p.Ser411Ter Single submitter karyomegalic interstitial nephritis
  • p.Ser427delinsAsnTer Single submitter karyomegalic interstitial nephritis
  • p.Trp664Ter Single submitter karyomegalic interstitial nephritis
  • p.Trp708Ter Single submitter karyomegalic interstitial nephritis
  • p.Arg145fs No assertion criteria FAN1-related disorder
  • p.Cys934Ter No assertion criteria FAN1-related disorder
  • p.Ser310Ter No assertion criteria FAN1-related disorder

Conflicting classifications of pathogenicity 17

  • c.1578-9A>G Single submitter karyomegalic interstitial nephritis
  • p.Arg12fs Single submitter karyomegalic interstitial nephritis
  • p.Arg507His Single submitter karyomegalic interstitial nephritis ⚠
  • p.Arg952Ter Single submitter karyomegalic interstitial nephritis
  • p.Asn364His Single submitter karyomegalic interstitial nephritis ⚠
  • p.Asp960Asn Single submitter karyomegalic interstitial nephritis ⚠
  • p.Gln409His Single submitter karyomegalic interstitial nephritis ⚠
  • p.Glu691Gln Single submitter karyomegalic interstitial nephritis ⚠
  • p.Glu755fs Single submitter karyomegalic interstitial nephritis
  • p.Gly178Val Single submitter karyomegalic interstitial nephritis ⚠
  • p.Gly371Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile236fs Single submitter karyomegalic interstitial nephritis
  • p.Ile31Met Single submitter karyomegalic interstitial nephritis ⚠
  • p.Leu395Pro Single submitter karyomegalic interstitial nephritis ⚠
  • p.Met50Arg Single submitter hereditary breast ovarian cancer syndrome ⚠
  • p.Phe257= Single submitter karyomegalic interstitial nephritis
  • p.Thr187fs Single submitter karyomegalic interstitial nephritis

Benign 56

Benign/Likely benign 19

Likely benign 119

Uncertain significance 304

Showing the top 300 by review status; the full set is in the sitemap.