FAS — 524 ClinVar variants
All ClinVar germline FAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →
69 Pathogenic · 10 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 19 Conflicting · 33 Benign · 12 Benign/Likely benign · 106 Likely benign · 231 Uncertain significance
Full FAS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 207
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 12
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FAS p.His111Arg
Pathogenic/Likely pathogenic
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu7Pro
Likely pathogenic
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn266Ser
Likely pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu114Val
Likely pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gly238Val
Likely pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile262Met
Pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu180Phe
Pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr241Lys
Pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ala25Thr
Pathogenic
No assertion criteria
FAS-related autoimmune lymphoproliferative syndrome
-
FAS p.Asn118Ser
Pathogenic
No assertion criteria
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
-
FAS p.Asn255Asp
Pathogenic
No assertion criteria
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
-
FAS p.Gly247Ala
Pathogenic
No assertion criteria
FAS-related autoimmune lymphoproliferative syndrome
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FAS p.Asn223His
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys135Phe
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gln47Arg
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu194Lys
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu289Asp
Conflicting
Single submitter
Inborn genetic diseases
-
FAS p.Ile310Ser
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu179Arg
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu278His
Conflicting
Single submitter
FAS-related disorder
-
FAS p.Lys193Arg
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Pro84Leu
Conflicting
Single submitter
Inborn genetic diseases
-
FAS p.Thr138Ala
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
FAS c.30+2T>C
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 150
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FAS p.Ala301Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAS p.Arg121Gln
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Arg121Trp
Uncertain significance
Multiple submitters
FAS-related disorder
-
FAS p.Arg128Lys
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Arg192Lys
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Arg279His
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn326Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAS p.Asp317Gly
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp55His
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys178Tyr
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu315Phe
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu35Met
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Lys274Glu
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr13Met
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr305Ile
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Tyr232His
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val23Ile
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ala257Val
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ala70Thr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Arg203Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Arg279Cys Uncertain significance Single submitter
-
FAS p.Asn162Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn24His
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn252Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Asn255Ser Uncertain significance Single submitter
-
FAS p.Asn266His
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn302Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn326His
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn326Thr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn326Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn76His
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp144Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp144Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp292His
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp321Asn
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp321Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp72Asn
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asp93Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Cys101Ser Uncertain significance Single submitter
-
FAS p.Cys104Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys119Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys127Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys129Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys140Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys140Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys165Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys63Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys82Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gln196Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAS p.Gln26Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gln273Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gln273Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Gln276Glu Uncertain significance Single submitter
- FAS p.Gln276Pro Uncertain significance Single submitter
-
FAS p.Glu114Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu150Val
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu156Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu167Gln
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu211Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAS p.Glu218Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu256Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu289Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu308Gly
Uncertain significance
Single submitter
FAS-related disorder
-
FAS p.Glu90Asp
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Gly112Ala Uncertain significance Single submitter
- FAS p.Gly112Val Uncertain significance Single submitter
-
FAS p.Gly169Val
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gly175Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gly208Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAS p.Gly77Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His142Pro
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His210Pro
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His210Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His53Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His54Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His60Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile222Met
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile262Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile295Met
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile313Val
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile318Thr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile4Met
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Leu106Phe Uncertain significance Single submitter
-
FAS p.Leu177Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu215Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu229Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Leu242Val Uncertain significance Single submitter
- FAS p.Leu277Val Uncertain significance Single submitter
-
FAS p.Leu303Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu334Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu35Trp
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Lys155Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAS p.Lys164Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Lys164Thr Uncertain significance Single submitter
-
FAS p.Lys258Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Lys288Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Lys300Asn
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Lys33Gln
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Lys33Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Lys33Thr Uncertain significance Single submitter
-
FAS p.Met240Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Met240Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Met240Val Uncertain significance Single submitter
-
FAS p.Phe133Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Pro131Thr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Pro183Leu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Pro213Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Pro62Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser19Leu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser19Pro
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser212Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser212Thr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser225Cys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser225Thr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser32Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Ser333Ile Uncertain significance Single submitter
- FAS p.Ser98Cys Uncertain significance Single submitter
-
FAS p.Ser98Tyr
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr125Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAS p.Thr125Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Thr13Ala Uncertain significance Single submitter
-
FAS p.Thr13Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr158Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr160Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr219Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr234Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr235Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr293Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr305Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr319Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr319Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr46Pro
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr6Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAS p.Trp176Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Trp281Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Trp281Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Tyr232Cys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Tyr91Cys Uncertain significance Single submitter
-
FAS p.Val11Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val139Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val220Met
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val227Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val239Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val245Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val249Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val254Ala
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val275Ile
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val27Met
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Val41Ala Uncertain significance Single submitter
-
FAS p.Val83Met
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
Predictors split 33
The independent predictors disagree with each other — read with care.
-
FAS p.Asp260Asn
Pathogenic
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ile233Thr
Uncertain significance
Multiple submitters
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Thr138Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAS p.Ala257Asp Pathogenic Single submitter
-
FAS p.Ala290Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Arg68Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn162Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Asn264Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys304Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys59Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Cys73Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Gln244Leu Likely pathogenic Single submitter
-
FAS p.Gln276His
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu116Gly
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Glu150Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAS p.Glu87Lys
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gly110Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gly110Glu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gly112Asp
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Gly286Glu
Pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His142Gln
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.His96Arg
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu177Arg
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Leu182Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Lys263Asn
Likely pathogenic
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Phe133Leu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Pro185Leu
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Pro84Ser
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Ser320Gly
Conflicting
Single submitter
autoimmune lymphoproliferative syndrome type 1
-
FAS p.Val254Phe
Uncertain significance
Single submitter
autoimmune lymphoproliferative syndrome type 1
- FAS p.Val275Ala Uncertain significance Single submitter
-
FAS p.Cys178Arg
Pathogenic
No assertion criteria
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
-
FAS p.Thr241Pro
Pathogenic
No assertion criteria
FAS-related autoimmune lymphoproliferative syndrome
All FAS variants
Pathogenic 69
- c.651+2T>C Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Asp260Asn Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gln196Ter Multiple submitters
- p.Leu294fs Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Trp176Ter Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Val15_Ala16insTer Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.334+2dup Single submitter autoimmune lymphoproliferative syndrome type 1
- c.334+2T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.335-2A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.443+2T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.506-16A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.506-1G>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.651+1G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.651+2_651+3insTGAAAT Single submitter autoimmune lymphoproliferative syndrome type 1
- c.652-1G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.676+1G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.676+1G>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.676+1G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ala257Asp Single submitter ⚠
- p.Arg105Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Arg250Pro Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn206fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn216fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn252fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asp260Gly Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asp260Val Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Cys119fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Cys127Ter Single submitter autoimmune lymphoproliferative syndrome
- p.Cys135fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Gln273Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu167fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu272fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu272Gly Single submitter
- p.Glu45Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu87Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Gly286Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His60fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ile236fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ile262Met Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu159fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu180Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu215Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu37Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Lys148fs Single submitter
- p.Lys148Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Lys258_Ile259insTer Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Lys39Ter Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Lys61fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Phe133fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr13fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr241fs Single submitter Inborn genetic diseases
- p.Thr241Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr293_Leu294insTer Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr42fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Val139fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Val188fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Val220fs Single submitter autoimmune lymphoproliferative syndrome type 1
- c.569-2A>C No assertion criteria FAS-related autoimmune lymphoproliferative syndrome
- c.651+2T>A No assertion criteria FAS-related autoimmune lymphoproliferative syndrome
- p.Ala25Thr No assertion criteria FAS-related autoimmune lymphoproliferative syndrome ⚠
- p.Asn118Ser No assertion criteria SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC ⚠
- p.Asn255Asp No assertion criteria SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC ⚠
- p.Asp260Tyr No assertion criteria FAS-related autoimmune lymphoproliferative syndrome
- p.Asp78fs No assertion criteria FAS-related autoimmune lymphoproliferative syndrome
- p.Cys178Arg No assertion criteria SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC ⚠
- p.Glu330fs No assertion criteria FAS-related autoimmune lymphoproliferative syndrome
- p.Gly247Ala No assertion criteria FAS-related autoimmune lymphoproliferative syndrome ⚠
- p.Lys231fs No assertion criteria FAS-related autoimmune lymphoproliferative syndrome
- p.Thr241Pro No assertion criteria FAS-related autoimmune lymphoproliferative syndrome ⚠
Pathogenic/Likely pathogenic 10
- c.196+1G>A Multiple submitters FAS-related disorder
- c.443+1G>A Multiple submitters
- c.651+1G>A Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Arg250Gln Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Arg250Ter Multiple submitters Inherited Immunodeficiency Diseases
- p.Glu272Lys Multiple submitters FAS-related disorder
- p.Gly253Val Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.His111Arg Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu229fs Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Lys231Ter Multiple submitters autoimmune lymphoproliferative syndrome type 1
Likely pathogenic 44
- p.Arg250Gly Multiple submitters FAS-related disorder
- p.Asp265Gly Multiple submitters
- p.Cys135Tyr Multiple submitters FAS-related disorder
- p.Ile259Thr Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Leu7Pro Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- c.197-1G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.443+2dup Single submitter autoimmune lymphoproliferative syndrome type 1
- c.505+1G>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.506-3C>G Single submitter
- c.506-3C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.506-6C>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.569-1G>A Single submitter FAS-related disorder
- c.569-1G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.569-5T>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.651+5G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ala221_Ile222insTer Single submitter
- p.Ala221fs Single submitter
- p.Ala290fs Single submitter
- p.Arg200fs Single submitter FAS-related disorder
- p.Asn266Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp108Gly Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asp260His Single submitter FAS-related disorder
- p.Cys107Ter Single submitter FAS-related disorder
- p.Cys82Arg Single submitter
- p.Gln244Leu Single submitter ⚠
- p.Gln268fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu114Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu211fs Single submitter
- p.Glu272Ala Single submitter FAS-related disorder
- p.Glu272Gln Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu272Ter Single submitter
- p.Gly238Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ile262Asn Single submitter
- p.Ile262Thr Single submitter Autoimmune lymphoproliferative syndrome with defective apoptosis
- p.Lys193fs Single submitter FAS-related disorder
- p.Lys263Asn Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys89Ter Single submitter
- p.Pro64fs Single submitter FAS-related disorder
- p.Ser230fs Single submitter
- p.Thr241_Ser243delinsLeuGluSerCys Single submitter
- p.Trp189Ter Single submitter FAS-related disorder
- p.Tyr232fs Single submitter autoimmune lymphoproliferative syndrome type 1
- c.197-2A>G No assertion criteria autoimmune lymphoproliferative syndrome type 1
- p.Met240fs No assertion criteria autoimmune lymphoproliferative syndrome type 1
Conflicting classifications of pathogenicity 19
- c.30+19G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.30+2T>C Single submitter Inborn genetic diseases ⚠
- c.334+3A>C Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn223His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp144= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Cys135Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gln47Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu194Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu261Lys Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu289Asp Single submitter Inborn genetic diseases ⚠
- p.Ile310Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu177Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu179Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu278His Single submitter FAS-related disorder ⚠
- p.Lys193Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Pro84Leu Single submitter Inborn genetic diseases ⚠
- p.Ser320Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr138Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr28= Single submitter autoimmune lymphoproliferative syndrome type 1
Benign 33
- c.197-62G>C Multiple submitters
- c.30+12C>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.334+46C>T Multiple submitters
- c.505+16C>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.506-71C>G Multiple submitters
- c.569-144G>A Multiple submitters
- c.651+43T>G Multiple submitters
- c.676+179A>G Multiple submitters
- c.676+239C>A Multiple submitters
- c.676+75G>A Multiple submitters
- c.677-95T>C Multiple submitters
- c.*1084C>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.*142A>G Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.*565A>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.*638T>C Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.*765T>C Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Gln47= Multiple submitters Meniere disease
- c.196+176C>T Single submitter
- c.197-110C>T Single submitter
- c.443+211A>G Single submitter
- c.443+299G>A Single submitter
- c.444-209_444-208del Single submitter
- c.444-298T>C Single submitter
- c.444-5dup Single submitter autoimmune lymphoproliferative syndrome type 1
- c.568+280C>T Single submitter
- c.652-266A>C Single submitter
- c.652-319A>G Single submitter
- c.*1203G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*1333G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*174A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*582T>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*84G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*853C>T Single submitter autoimmune lymphoproliferative syndrome type 1
Benign/Likely benign 12
- c.444-5del Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.505+14T>G Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.-34A>G Multiple submitters
- c.-95G>A Multiple submitters
- p.Ala16Thr Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Gln123= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Gln26= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Ile184Val Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Leu35= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Lys61= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Thr122Ile Multiple submitters Meniere disease
- p.Thr74= Multiple submitters autoimmune lymphoproliferative syndrome type 1
Likely benign 106
- c.196+17A>G Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.30+19G>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.444-19C>T Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.505+17G>A Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.652-7T>C Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Asp144Asn Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Asp228= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Asp29= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Asp72= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Cys82= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Glu256= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- p.Ser19= Multiple submitters autoimmune lymphoproliferative syndrome type 1
- c.196+8dup Single submitter autoimmune lymphoproliferative syndrome type 1
- c.197-11T>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.197-11T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.197-11T>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.197-18C>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.197-8T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.30+14_30+18dup Single submitter autoimmune lymphoproliferative syndrome type 1
- c.30+20G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.31-13T>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.334+11T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.334+20A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.334+325G>T Single submitter
- c.335-10G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.335-13A>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.335-15A>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.335-9A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.443+15T>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.443+20T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.444-12T>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.444-12T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.444-15T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.444-9T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.505+10T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.505+14T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.505+16C>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.506-11C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.506-14G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.568+12C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.568+18del Single submitter
- c.568+9T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.569-12T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.569-16T>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.569-251A>G Single submitter
- c.569-9T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.651+8T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.652-9G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.652-9G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.676+13T>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.676+297G>C Single submitter
- c.677-15T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.677-16A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.677-9A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.-10C>A Single submitter
- c.*436C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*70G>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*978C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ala237= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ala290= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn118= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn132= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn173= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn266= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn326= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn48= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asp108= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asp265Asn Single submitter
- p.Asp269= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Gln196= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu289= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu90= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Gly34= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Gly51= Single submitter
- p.Gly88= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.His210= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.His54= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ile233= Single submitter
- p.Ile313= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ile331= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu106= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu159= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu186= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu2= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu303= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu315= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu49= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Lys251= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Lys299Arg Single submitter Inborn genetic diseases
- p.Lys316= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Phe58= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Pro183= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Pro9= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ser22= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ser333= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ser333Asn Single submitter
- p.Thr13= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr160= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr163= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr214= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr293= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr305= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Val11= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Val115= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Val267= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Val83= Single submitter autoimmune lymphoproliferative syndrome type 1
Uncertain significance 231
- p.Ala301Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg121Gln Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Arg121Trp Multiple submitters FAS-related disorder ⚠
- p.Arg128Lys Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Arg192Lys Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Arg279His Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn326Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp317Gly Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp55His Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys178Tyr Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ile233Thr Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu315Phe Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu35Met Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys274Glu Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr138Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr13Met Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr163Ile Multiple submitters FAS-related disorder
- p.Thr305Ile Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Tyr232His Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val23Ile Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
- c.196+2dup Single submitter autoimmune lymphoproliferative syndrome type 1
- c.196+3A>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.196+5G>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.197-6G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.30+6C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.31-8T>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.31-9A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.335-4C>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.506-3C>A Single submitter
- c.506-7C>A Single submitter
- c.568+5G>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.651+17_651+45del Single submitter autoimmune lymphoproliferative syndrome type 1
- c.651+7A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.651+8T>G Single submitter
- c.652-12T>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.652-15T>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.652-2A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.676+12A>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.676+3A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.-288C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*1153A>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*119C>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*1294A>T Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*1313G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*386A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*520T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*566C>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*586G>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*839A>G Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*874T>A Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*88T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.*987T>C Single submitter
- p.Ala257Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ala290Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ala290Val Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ala70Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Arg203Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg68Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn162Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn162Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn24His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn252Ile Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn252Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn255Ser Single submitter ⚠
- p.Asn264Asp Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asn264Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn266His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn302Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn326His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn326Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn326Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asn76His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp144Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp144Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp292His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp317Glu Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Asp321Asn Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp321Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp72Asn Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Asp93Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys101Ser Single submitter ⚠
- p.Cys104Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys119Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys127Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys129Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys140Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys140Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys165Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys304Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys59Phe Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Cys59Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys63Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys73Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Cys73Ser Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Cys82Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gln123His Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Gln196Glu Single submitter Inborn genetic diseases ⚠
- p.Gln26Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gln273Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gln273Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gln276Glu Single submitter ⚠
- p.Gln276His Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gln276Pro Single submitter ⚠
- p.Glu114Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu116Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu150Gly Single submitter Inborn genetic diseases ⚠
- p.Glu150Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu156Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu167Gln Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu211Ala Single submitter Inborn genetic diseases ⚠
- p.Glu218Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu256Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu289Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu308Gly Single submitter FAS-related disorder ⚠
- p.Glu87del Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Glu87Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Glu90Asp Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gly110Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gly110Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gly112Ala Single submitter ⚠
- p.Gly112Asp Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gly112Val Single submitter ⚠
- p.Gly169Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gly175Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Gly208Val Single submitter Inborn genetic diseases ⚠
- p.Gly56_Gln57insLeuHisHisAspGly Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Gly77Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His111= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.His142Gln Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His142Pro Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His210Pro Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His210Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His53Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His54Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His60Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His96Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.His96Tyr Single submitter
- p.Ile222Met Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ile262Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ile295Met Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ile313Val Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ile318Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ile4Met Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu106Phe Single submitter ⚠
- p.Leu177Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu182Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu215Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu224fs Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Leu229Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu242Pro Single submitter
- p.Leu242Val Single submitter ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu303Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu334Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Leu35Trp Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys155Gln Single submitter Inborn genetic diseases ⚠
- p.Lys164Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys164Thr Single submitter ⚠
- p.Lys258Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys288Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys300Asn Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys33Gln Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys33Glu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Lys33Thr Single submitter ⚠
- p.Met240Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Met240Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Met240Val Single submitter ⚠
- p.Phe133Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Phe133Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Pro131Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Pro183Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Pro185Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Pro213Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Pro62Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Pro65= Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Pro84Ser Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser19Leu Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser19Pro Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser212Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser212Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser225Cys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser225Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser32Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ser333Ile Single submitter ⚠
- p.Ser98Cys Single submitter ⚠
- p.Ser98Phe Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Ser98Tyr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Ter336Tyr Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr125Asn Single submitter Inborn genetic diseases ⚠
- p.Thr125Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr13Ala Single submitter ⚠
- p.Thr13Lys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr158Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr160Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr160Ile Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr214Asn Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr214Ile Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr219Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr234Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr235del Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr235Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr270Ile Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Thr293Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr305Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr319Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr319Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr46Pro Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Thr6Asn Single submitter Inborn genetic diseases ⚠
- p.Trp176Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Trp189_Val190delinsTyrLysAsnLeu Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Trp189delinsTyrLysArg Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Trp281Arg Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Trp281Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Trp5Cys Single submitter autoimmune lymphoproliferative syndrome type 1
- p.Tyr232Cys Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Tyr91Cys Single submitter ⚠
- p.Val11Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val139Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val220Met Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val227Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val239Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val245Gly Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val249Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val254Ala Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val254Phe Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val275Ala Single submitter ⚠
- p.Val275Ile Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val27Met Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
- p.Val41Ala Single submitter ⚠
- p.Val83Met Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠