FADD — 149 ClinVar variants
All ClinVar germline FADD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 4 Benign · 76 Likely benign · 63 Uncertain significance
Full FADD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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.
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FADD p.Ala207Val
Conflicting
Single submitter
FADD-related immunodeficiency
-
FADD p.Arg117His
Conflicting
Single submitter
FADD-related immunodeficiency
-
FADD p.Cys105Arg
Conflicting
Single submitter
FADD-related immunodeficiency
-
FADD p.Pro195Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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FADD p.Asp106Asn
Uncertain significance
Multiple submitters
FADD-related immunodeficiency
-
FADD p.His160Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FADD p.Met193Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FADD p.Ser18Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FADD p.Thr151Ile
Uncertain significance
Multiple submitters
FADD-related immunodeficiency
-
FADD p.Val103Ile
Uncertain significance
Multiple submitters
FADD-related immunodeficiency
- FADD p.Ala116Pro Uncertain significance Single submitter
-
FADD p.Ala159Thr
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ala183Ser
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ala183Val
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ala202Thr
Uncertain significance
Single submitter
FADD-related immunodeficiency
- FADD p.Ala90Ser Uncertain significance Single submitter
-
FADD p.Arg117Cys
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Arg184His
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Asn102His
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Asn102Lys
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Asn53His
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Gln181Glu
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Glu139Gly
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Glu206Ala
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Glu22Ala
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Glu56Asp
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Glu94Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FADD p.Glu95Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FADD p.Glu95Lys
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Gly163Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FADD p.Gly191Arg
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Gly93Arg
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.His59Tyr
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.His73Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FADD p.Ile104Val
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ile129Val
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ile147Val
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Leu186Pro
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Lys120Arg
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Met170Leu
Uncertain significance
Single submitter
FADD-related immunodeficiency
- FADD p.Met196Ile Uncertain significance Single submitter
-
FADD p.Pro3Arg
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Pro92Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FADD p.Ser128Gly
Uncertain significance
Single submitter
FADD-related immunodeficiency
- FADD p.Ser16Thr Uncertain significance Single submitter
-
FADD p.Ser17Arg
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ser18Gly
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ser190Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FADD p.Ser208Phe
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ser47Thr
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ser69Phe
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Ser69Tyr
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Trp112Gly
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Tyr133His
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Val11Met
Uncertain significance
Single submitter
FADD-related immunodeficiency
Predictors split 8
The independent predictors disagree with each other — read with care.
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FADD p.Ile126Met
Uncertain significance
Multiple submitters
FADD-related immunodeficiency
-
FADD p.Arg30Pro
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Asn171Lys
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Asp81Tyr
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Glu37Lys
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Gly89Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FADD p.Lys110Asn
Uncertain significance
Single submitter
FADD-related immunodeficiency
-
FADD p.Val173Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All FADD variants
Pathogenic 1
- p.Ser17_Ser18insTer No assertion criteria FADD-related immunodeficiency
Likely pathogenic 1
- p.Cys105Trp Single submitter FADD-related immunodeficiency
Conflicting classifications of pathogenicity 4
- p.Ala207Val Single submitter FADD-related immunodeficiency ⚠
- p.Arg117His Single submitter FADD-related immunodeficiency ⚠
- p.Cys105Arg Single submitter FADD-related immunodeficiency ⚠
- p.Pro195Leu Single submitter Inborn genetic diseases ⚠
Benign 4
- c.287-49T>C Multiple submitters
- c.-43A>G Multiple submitters
- p.Val31= Multiple submitters FADD-related immunodeficiency
- c.287-162_287-161insA Single submitter
Likely benign 76
- c.286+20G>A Multiple submitters FADD-related immunodeficiency
- p.Arg78= Multiple submitters FADD-related immunodeficiency
- p.Asp2= Multiple submitters FADD-related immunodeficiency
- c.286+10G>A Single submitter FADD-related immunodeficiency
- c.286+12G>C Single submitter FADD-related immunodeficiency
- c.286+15G>T Single submitter FADD-related immunodeficiency
- c.286+18_286+24del Single submitter FADD-related immunodeficiency
- c.286+20G>T Single submitter FADD-related immunodeficiency
- c.286+6_286+10dup Single submitter FADD-related immunodeficiency
- c.286+8C>T Single submitter FADD-related immunodeficiency
- c.286+9G>C Single submitter FADD-related immunodeficiency
- c.287-11T>G Single submitter FADD-related immunodeficiency
- c.287-18C>T Single submitter FADD-related immunodeficiency
- c.287-8C>G Single submitter FADD-related immunodeficiency
- c.287-8C>T Single submitter FADD-related immunodeficiency
- p.Ala183= Single submitter FADD-related immunodeficiency
- p.Ala202= Single submitter FADD-related immunodeficiency
- p.Ala207= Single submitter FADD-related immunodeficiency
- p.Ala86= Single submitter FADD-related immunodeficiency
- p.Ala88= Single submitter FADD-related immunodeficiency
- p.Ala99= Single submitter FADD-related immunodeficiency
- p.Arg38= Single submitter FADD-related immunodeficiency
- p.Arg64= Single submitter FADD-related immunodeficiency
- p.Arg71= Single submitter FADD-related immunodeficiency
- p.Asn102= Single submitter FADD-related immunodeficiency
- p.Asn155= Single submitter FADD-related immunodeficiency
- p.Asp111= Single submitter FADD-related immunodeficiency
- p.Asp201= Single submitter FADD-related immunodeficiency
- p.Asp44= Single submitter FADD-related immunodeficiency
- p.Asp81= Single submitter FADD-related immunodeficiency
- p.Cys27= Single submitter FADD-related immunodeficiency
- p.Gln52= Single submitter FADD-related immunodeficiency
- p.Glu139= Single submitter FADD-related immunodeficiency
- p.Glu206Lys Single submitter FADD-related immunodeficiency
- p.Glu22= Single submitter FADD-related immunodeficiency
- p.Glu37= Single submitter FADD-related immunodeficiency
- p.Glu61Asp Single submitter Inborn genetic diseases
- p.Gly29= Single submitter FADD-related immunodeficiency
- p.Gly58= Single submitter FADD-related immunodeficiency
- p.Ile126= Single submitter FADD-related immunodeficiency
- p.Ile129= Single submitter FADD-related immunodeficiency
- p.Leu115= Single submitter FADD-related immunodeficiency
- p.Leu119= Single submitter FADD-related immunodeficiency
- p.Leu186= Single submitter FADD-related immunodeficiency
- p.Leu23= Single submitter
- p.Leu26= Single submitter FADD-related immunodeficiency
- p.Leu43= Single submitter FADD-related immunodeficiency
- p.Leu62= Single submitter FADD-related immunodeficiency
- p.Leu63= Single submitter FADD-related immunodeficiency
- p.Leu66= Single submitter FADD-related immunodeficiency
- p.Leu7= Single submitter FADD-related immunodeficiency
- p.Leu70= Single submitter FADD-related immunodeficiency
- p.Leu75= Single submitter FADD-related immunodeficiency
- p.Lys149= Single submitter FADD-related immunodeficiency
- p.Lys153= Single submitter FADD-related immunodeficiency
- p.Lys24= Single submitter FADD-related immunodeficiency
- p.Lys33= Single submitter FADD-related immunodeficiency
- p.Lys35= Single submitter FADD-related immunodeficiency
- p.Phe4= Single submitter FADD-related immunodeficiency
- p.Phe46= Single submitter FADD-related immunodeficiency
- p.Pro134= Single submitter
- p.Pro3= Single submitter FADD-related immunodeficiency
- p.Pro57= Single submitter FADD-related immunodeficiency
- p.Ser10= Single submitter FADD-related immunodeficiency
- p.Ser128= Single submitter FADD-related immunodeficiency
- p.Ser16= Single submitter FADD-related immunodeficiency
- p.Ser194= Single submitter FADD-related immunodeficiency
- p.Ser197= Single submitter FADD-related immunodeficiency
- p.Ser200= Single submitter FADD-related immunodeficiency
- p.Ser205= Single submitter FADD-related immunodeficiency
- p.Ser41= Single submitter FADD-related immunodeficiency
- p.Thr21= Single submitter FADD-related immunodeficiency
- p.Tyr133= Single submitter FADD-related immunodeficiency
- p.Val108= Single submitter FADD-related immunodeficiency
- p.Val141= Single submitter FADD-related immunodeficiency
- p.Pro92= No assertion criteria
Uncertain significance 63
- p.Ala156Thr Multiple submitters Inborn genetic diseases
- p.Asp106Asn Multiple submitters FADD-related immunodeficiency ⚠
- p.His160Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile126Met Multiple submitters FADD-related immunodeficiency ⚠
- p.Met193Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser18Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr151Ile Multiple submitters FADD-related immunodeficiency ⚠
- p.Val103Ile Multiple submitters FADD-related immunodeficiency ⚠
- p.Ala116Pro Single submitter ⚠
- p.Ala159Thr Single submitter FADD-related immunodeficiency ⚠
- p.Ala183Ser Single submitter FADD-related immunodeficiency ⚠
- p.Ala183Val Single submitter FADD-related immunodeficiency ⚠
- p.Ala202Thr Single submitter FADD-related immunodeficiency ⚠
- p.Ala90Ser Single submitter ⚠
- p.Arg117Cys Single submitter FADD-related immunodeficiency ⚠
- p.Arg140His Single submitter FADD-related immunodeficiency
- p.Arg184His Single submitter FADD-related immunodeficiency ⚠
- p.Arg30Pro Single submitter FADD-related immunodeficiency ⚠
- p.Asn102His Single submitter FADD-related immunodeficiency ⚠
- p.Asn102Lys Single submitter FADD-related immunodeficiency ⚠
- p.Asn171Lys Single submitter FADD-related immunodeficiency ⚠
- p.Asn53His Single submitter FADD-related immunodeficiency ⚠
- p.Asp81Tyr Single submitter FADD-related immunodeficiency ⚠
- p.Gln181Glu Single submitter FADD-related immunodeficiency ⚠
- p.Glu139Gly Single submitter FADD-related immunodeficiency ⚠
- p.Glu206Ala Single submitter FADD-related immunodeficiency ⚠
- p.Glu22Ala Single submitter FADD-related immunodeficiency ⚠
- p.Glu37Lys Single submitter FADD-related immunodeficiency ⚠
- p.Glu51Gly Single submitter FADD-related immunodeficiency
- p.Glu56Asp Single submitter FADD-related immunodeficiency ⚠
- p.Glu83Gly Single submitter FADD-related immunodeficiency
- p.Glu94Val Single submitter Inborn genetic diseases ⚠
- p.Glu95Asp Single submitter Inborn genetic diseases ⚠
- p.Glu95Lys Single submitter FADD-related immunodeficiency ⚠
- p.Gly163Trp Single submitter Inborn genetic diseases ⚠
- p.Gly191Arg Single submitter FADD-related immunodeficiency ⚠
- p.Gly89Trp Single submitter Inborn genetic diseases ⚠
- p.Gly93Arg Single submitter FADD-related immunodeficiency ⚠
- p.His59Tyr Single submitter FADD-related immunodeficiency ⚠
- p.His73Gln Single submitter Inborn genetic diseases ⚠
- p.Ile104Val Single submitter FADD-related immunodeficiency ⚠
- p.Ile129Val Single submitter FADD-related immunodeficiency ⚠
- p.Ile147Val Single submitter FADD-related immunodeficiency ⚠
- p.Leu186Pro Single submitter FADD-related immunodeficiency ⚠
- p.Lys110Asn Single submitter FADD-related immunodeficiency ⚠
- p.Lys120Arg Single submitter FADD-related immunodeficiency ⚠
- p.Met170Leu Single submitter FADD-related immunodeficiency ⚠
- p.Met196Ile Single submitter ⚠
- p.Pro3Arg Single submitter FADD-related immunodeficiency ⚠
- p.Pro92Leu Single submitter Inborn genetic diseases ⚠
- p.Ser128Gly Single submitter FADD-related immunodeficiency ⚠
- p.Ser16Thr Single submitter ⚠
- p.Ser17Arg Single submitter FADD-related immunodeficiency ⚠
- p.Ser18Gly Single submitter FADD-related immunodeficiency ⚠
- p.Ser190Arg Single submitter Inborn genetic diseases ⚠
- p.Ser208Phe Single submitter FADD-related immunodeficiency ⚠
- p.Ser47Thr Single submitter FADD-related immunodeficiency ⚠
- p.Ser69Phe Single submitter FADD-related immunodeficiency ⚠
- p.Ser69Tyr Single submitter FADD-related immunodeficiency ⚠
- p.Trp112Gly Single submitter FADD-related immunodeficiency ⚠
- p.Tyr133His Single submitter FADD-related immunodeficiency ⚠
- p.Val11Met Single submitter FADD-related immunodeficiency ⚠
- p.Val173Leu Single submitter Inborn genetic diseases ⚠