Sugi Variant

Sugi Variant/FASN

FASN — 2426 ClinVar variants

All ClinVar germline FASN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1073 flagged for review →

1 Pathogenic · 31 Conflicting · 78 Benign · 33 Benign/Likely benign · 1100 Likely benign · 1183 Uncertain significance

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

⚑ Evidence disagreements 1073

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 27

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

Predictors lean, ClinVar uncertain 822

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 822

Predictors split 224

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 224

All FASN variants

Pathogenic 1

Conflicting classifications of pathogenicity 31

Benign 78

  • c.1493-16G>A Multiple submitters Epileptic encephalopathy
  • c.2786-14C>T Multiple submitters Epileptic encephalopathy
  • c.3224-18C>T Multiple submitters Epileptic encephalopathy
  • c.3427+8C>T Multiple submitters Epileptic encephalopathy
  • c.4122+9G>A Multiple submitters Epileptic encephalopathy
  • c.4288-12G>C Multiple submitters Epileptic encephalopathy
  • c.4768+20G>A Multiple submitters Epileptic encephalopathy
  • c.6011+13C>T Multiple submitters Epileptic encephalopathy
  • c.6012-10G>A Multiple submitters Epileptic encephalopathy
  • c.6012-12G>C Multiple submitters Epileptic encephalopathy
  • c.6163+12C>T Multiple submitters Epileptic encephalopathy
  • c.6164-8C>G Multiple submitters Epileptic encephalopathy
  • c.6406+12C>T Multiple submitters Epileptic encephalopathy
  • c.6595+12T>C Multiple submitters Epileptic encephalopathy
  • c.894+17_894+18del Multiple submitters Epileptic encephalopathy
  • p.Ala1089= Multiple submitters Epileptic encephalopathy
  • p.Ala1247= Multiple submitters Epileptic encephalopathy
  • p.Ala2040Ser Multiple submitters Epileptic encephalopathy
  • p.Ala656= Multiple submitters Epileptic encephalopathy
  • p.Arg2185Gln Multiple submitters Epileptic encephalopathy
  • p.Asn189= Multiple submitters Epileptic encephalopathy
  • p.Asp1311Asn Multiple submitters Epileptic encephalopathy ⚠
  • p.Gln1845= Multiple submitters Epileptic encephalopathy
  • p.Glu1526= Multiple submitters Epileptic encephalopathy
  • p.Gly1217= Multiple submitters Epileptic encephalopathy
  • p.Gly1539= Multiple submitters Epileptic encephalopathy
  • p.Ile1888Val Multiple submitters Epileptic encephalopathy
  • p.Ile2134= Multiple submitters Epileptic encephalopathy
  • p.Leu1228= Multiple submitters Epileptic encephalopathy
  • p.Pro1779= Multiple submitters Epileptic encephalopathy
  • p.Pro1779Leu Multiple submitters Epileptic encephalopathy
  • p.Pro979= Multiple submitters Epileptic encephalopathy
  • p.Ser1756= Multiple submitters Epileptic encephalopathy
  • p.Ser2236Phe Multiple submitters Epileptic encephalopathy ⚠
  • p.Tyr1396= Multiple submitters Epileptic encephalopathy
  • p.Val1483Ile Multiple submitters Epileptic encephalopathy
  • p.Val2005Ala Multiple submitters Epileptic encephalopathy
  • p.Val907= Multiple submitters Epileptic encephalopathy
  • c.1029+10del Single submitter Epileptic encephalopathy
  • c.2785+14del Single submitter Epileptic encephalopathy
  • c.2866+13G>A Single submitter Epileptic encephalopathy
  • c.4287+12C>A Single submitter Epileptic encephalopathy
  • c.4288-13C>T Single submitter Epileptic encephalopathy
  • c.4768+19C>T Single submitter Epileptic encephalopathy
  • c.4919+7G>A Single submitter Epileptic encephalopathy
  • c.5341+8C>T Single submitter Epileptic encephalopathy
  • c.5768-4G>A Single submitter Epileptic encephalopathy
  • c.6163+9del Single submitter Epileptic encephalopathy
  • c.778+13G>A Single submitter Epileptic encephalopathy
  • c.779-5C>T Single submitter Epileptic encephalopathy
  • c.894+16_894+18del Single submitter Epileptic encephalopathy
  • c.894+18del Single submitter Epileptic encephalopathy
  • p.Ala1376= Single submitter Epileptic encephalopathy
  • p.Ala2386Val Single submitter Epileptic encephalopathy
  • p.Arg883= Single submitter Epileptic encephalopathy
  • p.Cys1448= Single submitter Epileptic encephalopathy
  • p.Glu1485= Single submitter Epileptic encephalopathy
  • p.Glu489Lys Single submitter Epileptic encephalopathy
  • p.Gly1678= Single submitter Epileptic encephalopathy
  • p.Gly1781= Single submitter Epileptic encephalopathy
  • p.Gly562= Single submitter Epileptic encephalopathy
  • p.Gly678= Single submitter Epileptic encephalopathy
  • p.His1062= Single submitter Epileptic encephalopathy
  • p.Ile155Val Single submitter Epileptic encephalopathy
  • p.Ile184= Single submitter Epileptic encephalopathy
  • p.Phe1632= Single submitter Epileptic encephalopathy
  • p.Pro1667Ser Single submitter Epileptic encephalopathy
  • p.Pro208= Single submitter Epileptic encephalopathy
  • p.Pro2389= Single submitter Epileptic encephalopathy
  • p.Pro412= Single submitter Epileptic encephalopathy
  • p.Pro617= Single submitter Epileptic encephalopathy
  • p.Pro707Leu Single submitter Epileptic encephalopathy ⚠
  • p.Ser16= Single submitter Epileptic encephalopathy
  • p.Ser1886= Single submitter Epileptic encephalopathy
  • p.Tyr1657= Single submitter Epileptic encephalopathy
  • p.Tyr2454= Single submitter Epileptic encephalopathy
  • p.Val1937Ile Single submitter Epileptic encephalopathy
  • p.Val485= Single submitter Epileptic encephalopathy

Benign/Likely benign 33

  • c.1680+16C>G Multiple submitters Epileptic encephalopathy
  • c.2593+14C>T Multiple submitters Epileptic encephalopathy
  • c.3733-11A>T Multiple submitters Epileptic encephalopathy
  • c.5565+10G>A Multiple submitters Epileptic encephalopathy
  • c.5566-5C>T Multiple submitters Epileptic encephalopathy
  • c.5767+9G>A Multiple submitters Epileptic encephalopathy
  • c.894+8C>A Multiple submitters Epileptic encephalopathy
  • c.895-14dup Multiple submitters Epileptic encephalopathy
  • p.Ala1102= Multiple submitters Epileptic encephalopathy
  • p.Ala1185= Multiple submitters Epileptic encephalopathy
  • p.Ala1683= Multiple submitters Epileptic encephalopathy
  • p.Ala1960= Multiple submitters Epileptic encephalopathy
  • p.Arg2125Gln Multiple submitters Epileptic encephalopathy
  • p.Arg477= Multiple submitters Epileptic encephalopathy
  • p.Asp1212= Multiple submitters Epileptic encephalopathy
  • p.Glu1958Lys Multiple submitters Epileptic encephalopathy ⚠
  • p.Glu719Lys Multiple submitters Epileptic encephalopathy ⚠
  • p.Glu939Lys Multiple submitters Epileptic encephalopathy
  • p.Gly1166= Multiple submitters Epileptic encephalopathy
  • p.Gly479Val Multiple submitters Epileptic encephalopathy
  • p.His614Tyr Multiple submitters Epileptic encephalopathy ⚠
  • p.His755= Multiple submitters Epileptic encephalopathy
  • p.Ile322= Multiple submitters Epileptic encephalopathy
  • p.Leu1215= Multiple submitters Epileptic encephalopathy
  • p.Leu232= Multiple submitters Epileptic encephalopathy
  • p.Leu2390Arg Multiple submitters Epileptic encephalopathy
  • p.Leu880= Multiple submitters Epileptic encephalopathy
  • p.Leu919= Multiple submitters Epileptic encephalopathy
  • p.Pro410= Multiple submitters Epileptic encephalopathy
  • p.Ser197= Multiple submitters Epileptic encephalopathy
  • p.Ser2159= Multiple submitters Epileptic encephalopathy
  • p.Thr408= Multiple submitters Epileptic encephalopathy
  • p.Val1852= Multiple submitters Epileptic encephalopathy

Likely benign 1100

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

Uncertain significance 1183

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