FASLG — 219 ClinVar variants

All ClinVar germline FASLG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 12 Conflicting · 10 Benign · 7 Benign/Likely benign · 80 Likely benign · 103 Uncertain significance

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

⚑ Evidence disagreements 89

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 8

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

Predictors lean, ClinVar uncertain 71

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

Predictors split 10

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

All FASLG variants

Pathogenic 4

  • p.Arg115Ter Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Cys202Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Val15fs Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Met158_Glu185del No assertion criteria FASLG-Related Autoimmune Lymphoproliferative Syndrome

Likely pathogenic 3

Conflicting classifications of pathogenicity 12

  • c.394+3G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.451+7A>G Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.452-12G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ala93Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Gln120His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.His122Asn Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Leu94Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro138Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro52_Pro53dup Single submitter FASLG-related disorder
  • p.Pro57Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro59Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Ser231Asn Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠

Benign 10

  • c.395-124A>G Multiple submitters
  • c.452-28T>C Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • c.348+208A>G Single submitter
  • c.394+13dup Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.452-172del Single submitter
  • c.*406G>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*606T>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*725A>G Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*754G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*817A>G Single submitter autoimmune lymphoproliferative syndrome type 1

Benign/Likely benign 7

  • c.395-15C>G Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • c.451+8T>A Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • c.*3G>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Phe87Leu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro49= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Pro59= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Val36= Multiple submitters autoimmune lymphoproliferative syndrome type 1

Likely benign 80

  • c.348+11C>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • c.451+11G>A Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Ala24= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Ala240= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Glu142Asp Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Gly180= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Leu71= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Phe276= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Pro48= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Pro51= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • p.Val90= Multiple submitters autoimmune lymphoproliferative syndrome type 1
  • c.348+11C>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.348+12G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.348+14C>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.348+9G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.349-13T>C Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.349-16C>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.349-45G>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.394+12T>C Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.394+14C>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.394+15G>A Single submitter
  • c.394+16C>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.394+17A>C Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.395-13C>G Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.395-14T>C Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.395-9A>G Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.451+12G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.451+19C>G Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.452-11A>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.-16T>C Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*32T>C Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ala93= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Asn184= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Asn204= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Asn260= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Glu226= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly100= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly151= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly179= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly187= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly199= Single submitter
  • p.Gly236= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly75= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly80= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.His122= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.His209= Single submitter
  • p.Ile168= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu104= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu107= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu205= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu222= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu266= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu278= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu68= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu81= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu91= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu99= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Lys175= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro134= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro137= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro25= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro45= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro52= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro58= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro60= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro69= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro70= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro70Arg Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ser117= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ser135= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ser193= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ser208= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ser78Asn Single submitter
  • p.Thr234= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Thr274= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Tyr166= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Tyr189= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Tyr258= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Val174= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Asn215= No assertion criteria FASLG-related disorder

Uncertain significance 103

  • p.Arg156Gly Multiple submitters lung cancer ⚠
  • p.Arg39Ser Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Asn250Ile Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Glu139Val Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Ile168Asn Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Lys178Glu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Lys210Glu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met101Val Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met230Ile Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Phe105Leu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro137Leu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro31Ser Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro37Ala Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro49Leu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro60Leu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Thr274Met Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Tyr166Cys Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
  • c.452-13G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.-136G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*119G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*120G>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*203C>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*306A>C Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*54A>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*600G>T Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*601GT[18] Single submitter
  • c.*608T>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • c.*612T>A Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.48PPPPPPLPP[1] Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Ala247Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Ala247Val Single submitter ⚠
  • p.Arg115Gln Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Arg115Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Arg198Trp Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Arg38Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Arg39Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Arg74Gly Single submitter ⚠
  • p.Arg74Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Asn250Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Asn268Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Asn76Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Cys32Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Gln108Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Gln11Glu Single submitter ⚠
  • p.Gln200Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Gln220Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Glu139Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Glu142Leu Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly151Asp Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Gly227= Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Gly246Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Gly27Val Single submitter ⚠
  • p.His122Tyr Single submitter ⚠
  • p.His133Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Leu107Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Leu170Pro Single submitter ⚠
  • p.Leu188Met Single submitter ⚠
  • p.Leu266Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Leu278Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Leu54_Pro61dup Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Leu94Ser Single submitter ⚠
  • p.Lys129Arg Single submitter ⚠
  • p.Lys140Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met121Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met158Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met158Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met213Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met213Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Met86Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro134Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro40Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro46Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro51_Pro52insLeuProProProProProPro Single submitter
  • p.Pro51_Pro53del Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro51Gln Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro51Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro52_Pro53del Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro53_Leu54insProPro Single submitter
  • p.Pro53del Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro53Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro55Ser Single submitter ⚠
  • p.Pro58Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Pro62_Leu63insPro Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro64_Leu71dup Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro65_Leu66insProProProProProProLeuProPro Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Pro67Gln Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Ser119Cys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Ser17Arg Single submitter ⚠
  • p.Ser18Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Ser193_Tyr196del Single submitter autoimmune lymphoproliferative syndrome type 1
  • p.Thr123Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Thr123Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Thr165Ile Single submitter ⚠
  • p.Thr274Lys Single submitter ⚠
  • p.Thr34Asn Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Thr79Lys Single submitter ⚠
  • p.Trp14Cys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Trp162Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Tyr218Cys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Val211Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Val248Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Val261Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
  • p.Lys141Arg No assertion criteria FASLG-related disorder ⚠