Sugi Variant

Sugi Variant/FANCL

FANCL — 815 ClinVar variants

All ClinVar germline FANCL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 253 flagged for review →

39 Pathogenic · 20 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 20 Conflicting · 42 Benign · 13 Benign/Likely benign · 315 Likely benign · 313 Uncertain significance

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

⚑ Evidence disagreements 253

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 4

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

Predictors lean, ClinVar uncertain 206

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 206

Predictors split 43

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

All FANCL variants

Pathogenic 39

Pathogenic/Likely pathogenic 20

  • c.472-1G>C Multiple submitters Fanconi anemia complementation group L
  • c.903+1G>T Multiple submitters Fanconi anemia
  • p.Arg10fs Multiple submitters Fanconi anemia complementation group L
  • p.Arg68Ter Multiple submitters Fanconi anemia
  • p.Gln75Ter Multiple submitters Fanconi anemia complementation group L
  • p.Glu340fs Multiple submitters Fanconi anemia
  • p.Glu5fs Multiple submitters Fanconi anemia complementation group L
  • p.Gly344fs Multiple submitters Fanconi anemia
  • p.Lys22Ter Multiple submitters Fanconi anemia
  • p.Met1Arg Multiple submitters Fanconi anemia
  • p.Met1Leu Multiple submitters Fanconi anemia
  • p.Met1Thr Multiple submitters Fanconi anemia complementation group L
  • p.Met1Val Multiple submitters Fanconi anemia complementation group L
  • p.Phe253fs Multiple submitters Fanconi anemia
  • p.Ser144fs Multiple submitters Fanconi anemia complementation group L
  • p.Ser30Ter Multiple submitters Fanconi anemia
  • p.Trp212Ter Multiple submitters Fanconi anemia
  • p.Trp274Ter Multiple submitters Fanconi anemia
  • p.Trp341_Gly344delinsTer Multiple submitters Fanconi anemia
  • p.Val127fs Multiple submitters Inborn genetic diseases

Likely pathogenic 53

  • c.1021-2A>G Multiple submitters Fanconi anemia
  • c.1021-2A>T Multiple submitters FANCL-related disorders
  • c.156-2A>T Multiple submitters Fanconi anemia
  • c.273+1G>A Multiple submitters Fanconi anemia
  • c.471+2T>C Multiple submitters Fanconi anemia
  • c.903+1_903+2del Multiple submitters Fanconi anemia complementation group L
  • c.903+1del Multiple submitters Fanconi anemia complementation group L
  • p.Glu358Ter Multiple submitters Fanconi anemia
  • p.Met247fs Multiple submitters Fanconi anemia complementation group L
  • p.Ser348delinsAsnTer Multiple submitters Fanconi anemia
  • p.Ser351fs Multiple submitters Fanconi anemia complementation group L
  • c.1092+1_1092+5del Single submitter Fanconi anemia
  • c.1092+1G>C Single submitter Fanconi anemia complementation group L
  • c.1092+1G>T Single submitter Fanconi anemia complementation group L
  • c.155+2T>G Single submitter Fanconi anemia
  • c.216+1G>T Single submitter Fanconi anemia
  • c.274-2A>C Single submitter Fanconi anemia
  • c.274-2A>G Single submitter
  • c.374+1G>A Single submitter Fanconi anemia complementation group L
  • c.471+1G>A Single submitter Fanconi anemia
  • c.540+1G>A Single submitter Fanconi anemia
  • c.541-2A>C Single submitter Fanconi anemia
  • c.691+1G>A Single submitter Fanconi anemia
  • c.691+2_691+5del Single submitter Fanconi anemia complementation group L
  • c.692-2A>G Single submitter Fanconi anemia
  • c.775+2T>C Single submitter Fanconi anemia
  • c.821+1G>A Single submitter Fanconi anemia
  • c.904-1G>A Single submitter Fanconi anemia
  • c.904-2A>G Single submitter Fanconi anemia
  • c.96+2T>A Single submitter Fanconi anemia
  • c.96+2T>C Single submitter Fanconi anemia
  • p.Asn270fs Single submitter FANCL-related disorder
  • p.Gln18fs Single submitter Fanconi anemia complementation group L
  • p.Gln322Ter Single submitter Fanconi anemia complementation group L
  • p.Gln350fs Single submitter Fanconi anemia
  • p.Gln350Ter Single submitter Fanconi anemia
  • p.Gln47Ter Single submitter Fanconi anemia complementation group L
  • p.Gln72Ter Single submitter
  • p.Gln75fs Single submitter FANCL-related disorders
  • p.Glu195Ter Single submitter
  • p.Glu239fs Single submitter Fanconi anemia complementation group L
  • p.His148fs Single submitter Fanconi anemia complementation group L
  • p.Ile336fs Single submitter Fanconi anemia complementation group L
  • p.Leu114fs Single submitter Fanconi anemia complementation group L
  • p.Leu197fs Single submitter Fanconi anemia complementation group L
  • p.Leu53Ter Single submitter Fanconi anemia complementation group L
  • p.Leu8fs Single submitter Fanconi anemia complementation group L
  • p.Leu95Ter Single submitter Fanconi anemia complementation group L
  • p.Phe356fs Single submitter Fanconi anemia complementation group L
  • p.Ser112Ter Single submitter Fanconi anemia complementation group L
  • p.Ser301fs Single submitter Fanconi anemia complementation group L
  • p.Tyr339fs Single submitter Fanconi anemia complementation group L
  • p.Val24fs Single submitter Fanconi anemia complementation group L

Conflicting classifications of pathogenicity 20

Benign 42

Benign/Likely benign 13

Likely benign 315

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

Uncertain significance 313

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