TRAF3IP2 — 211 ClinVar variants
All ClinVar germline TRAF3IP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
10 Pathogenic · 5 Likely pathogenic · 2 Conflicting · 8 Benign · 6 Benign/Likely benign · 85 Likely benign · 95 Uncertain significance
Full TRAF3IP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TRAF3IP2 p.Pro28Leu
Conflicting
Single submitter
candidiasis, familial, 8
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TRAF3IP2 p.Ala328Thr
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Ala36Val
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Ala473Thr
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Arg84Cys
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Asn45Lys
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Gln18His
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Glu115Lys
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Glu479Lys
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Gly353Asp
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Ile290Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Ile290Val
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Lys417Glu
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Pro253Arg
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Pro292Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Pro292Thr
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Pro320Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Pro355Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Pro37Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Ser374Tyr
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Thr486Ile
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Val221Met
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Val460Ile
Uncertain significance
Multiple submitters
candidiasis, familial, 8
-
TRAF3IP2 p.Ala188Val
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Ala246Thr
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Ala285Asp
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Ala293Gly
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Ala293Pro Uncertain significance Single submitter
-
TRAF3IP2 p.Ala376Thr
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Ala551Thr Uncertain significance Single submitter
- TRAF3IP2 p.Arg305Lys Uncertain significance Single submitter
-
TRAF3IP2 p.Arg330Thr
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Arg380Ser Uncertain significance Single submitter
-
TRAF3IP2 p.Arg401Trp
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Arg449Cys
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Arg449His
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Arg542Trp
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Arg554Gln Uncertain significance Single submitter
-
TRAF3IP2 p.Arg84Leu
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Asn2Lys
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Asn350Ser
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Asn45Asp
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Asn538Thr Uncertain significance Single submitter
- TRAF3IP2 p.Asp342Asn Uncertain significance Single submitter
-
TRAF3IP2 p.Cys361Tyr
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Gln341Glu
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Gln525Arg
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Glu30Lys
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Glu324Lys Uncertain significance Single submitter
-
TRAF3IP2 p.Glu398Ala
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Glu448Gly Uncertain significance Single submitter
-
TRAF3IP2 p.Gly336Arg
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Gly353Ala
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Gly58Arg
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.His485Arg
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Lys499Arg
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Met413Val
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Met42Val
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Met52Val
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Pro271Ser
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Pro298His
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Pro335Leu
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Pro355Ala
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Pro533Ser
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Pro6Ala
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Ser159Leu
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Ser475Leu Uncertain significance Single submitter
- TRAF3IP2 p.Ser48Phe Uncertain significance Single submitter
-
TRAF3IP2 p.Ser56Phe
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Ser57Phe Uncertain significance Single submitter
-
TRAF3IP2 p.Ser57Pro
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Thr393Ala
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Thr51Ile
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Thr522Ala
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Thr522Pro Uncertain significance Single submitter
-
TRAF3IP2 p.Trp523Ser
Uncertain significance
Single submitter
psoriasis 13, susceptibility to
-
TRAF3IP2 p.Tyr15Asp
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Tyr466Asn
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Tyr466Cys Uncertain significance Single submitter
-
TRAF3IP2 p.Val470Met
Uncertain significance
Single submitter
candidiasis, familial, 8
Predictors split 10
The independent predictors disagree with each other — read with care.
-
TRAF3IP2 p.Arg449Ser
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Arg491Gln
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Asp480Glu
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Glu546Lys
Uncertain significance
Single submitter
candidiasis, familial, 8
- TRAF3IP2 p.Glu8Lys Uncertain significance Single submitter
- TRAF3IP2 p.Gly389Arg Uncertain significance Single submitter
-
TRAF3IP2 p.His528Arg
Benign
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Ile443Thr
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Met457Thr
Uncertain significance
Single submitter
candidiasis, familial, 8
-
TRAF3IP2 p.Met503Val
Uncertain significance
Single submitter
candidiasis, familial, 8
All TRAF3IP2 variants
Pathogenic 10
- c.926_1022+148delinsTGACCTGAAAAGTCTATATTGGGCATTCCACTATGTGACTTGCTCACTAACGTGGGTTAGCAAACCTATAGAGAATTCTGTTACATCTTCATTGCATTGGCATAATTCCTTTCCATGTTAAAAATGCCTGAAGGTTGGGCCTGTCATACTTACTGGTGCCTTGGAAGCCCCGGAAAGGAGCAGTCTCTCTGTGCGGGCCTCTCTTCGTGGTCCCAGGGGCTGGGATAATTCAGGATAACCTTCTGCACAG Single submitter candidiasis, familial, 8
- p.Arg283Ter Single submitter candidiasis, familial, 8
- p.Arg491Ter Single submitter candidiasis, familial, 8
- p.Glu325Ter Single submitter candidiasis, familial, 8
- p.Lys465fs Single submitter candidiasis, familial, 8
- p.Pro349fs Single submitter candidiasis, familial, 8
- p.Ser132Ter Single submitter candidiasis, familial, 8
- p.Ser408fs Single submitter candidiasis, familial, 8
- p.Thr429Asn Single submitter discoid lupus erythematosus
- p.Thr527Ile No assertion criteria candidiasis, familial, 8
Likely pathogenic 5
- c.1201+1G>C Multiple submitters candidiasis, familial, 8
- c.1201+1G>A Single submitter candidiasis, familial, 8
- c.1201+2T>C Single submitter candidiasis, familial, 8
- c.1202-2A>G Single submitter candidiasis, familial, 8
- c.1290+1_1290+2del Single submitter candidiasis, familial, 8
Conflicting classifications of pathogenicity 2
- p.Arg3Ter Single submitter candidiasis, familial, 8
- p.Pro28Leu Single submitter candidiasis, familial, 8 ⚠
Benign 8
- p.His323Gln Multiple submitters candidiasis, familial, 8
- c.1201+50T>C Single submitter
- c.1201+69G>A Single submitter
- c.1291-5del Single submitter candidiasis, familial, 8
- p.Asn538= Single submitter candidiasis, familial, 8
- p.His340= Single submitter candidiasis, familial, 8
- p.His528Arg Single submitter candidiasis, familial, 8 ⚠
- p.Pro35dup Single submitter candidiasis, familial, 8
Benign/Likely benign 6
- c.1291-13dup Multiple submitters candidiasis, familial, 8
- p.Asp10Asn Multiple submitters candidiasis, familial, 8
- p.His64Pro Multiple submitters candidiasis, familial, 8
- p.Pro217Thr Multiple submitters candidiasis, familial, 8
- p.Ser319Arg Multiple submitters candidiasis, familial, 8
- p.Thr455= Multiple submitters candidiasis, familial, 8
Likely benign 85
- c.1291-9T>G Multiple submitters candidiasis, familial, 8
- c.1551+14_1551+17del Multiple submitters candidiasis, familial, 8
- p.Asn395Ser Multiple submitters candidiasis, familial, 8
- p.Asp280= Multiple submitters candidiasis, familial, 8
- p.Gln79His Multiple submitters candidiasis, familial, 8
- p.Ile459= Multiple submitters candidiasis, familial, 8
- p.Leu422= Multiple submitters candidiasis, familial, 8
- p.Pro292= Multiple submitters candidiasis, familial, 8
- p.Pro327= Multiple submitters candidiasis, familial, 8
- p.Pro373= Multiple submitters candidiasis, familial, 8
- c.1022+16C>A Single submitter candidiasis, familial, 8
- c.1022+7A>G Single submitter candidiasis, familial, 8
- c.1023-4C>G Single submitter candidiasis, familial, 8
- c.1023-6T>G Single submitter candidiasis, familial, 8
- c.1023-9C>T Single submitter candidiasis, familial, 8
- c.1201+12G>C Single submitter candidiasis, familial, 8
- c.1202-16A>G Single submitter candidiasis, familial, 8
- c.1202-19T>C Single submitter candidiasis, familial, 8
- c.1290+15C>T Single submitter candidiasis, familial, 8
- c.1290+20A>G Single submitter candidiasis, familial, 8
- c.1291-14C>G Single submitter candidiasis, familial, 8
- c.1291-8T>G Single submitter candidiasis, familial, 8
- c.1360-13C>G Single submitter candidiasis, familial, 8
- c.1360-15C>G Single submitter candidiasis, familial, 8
- c.1360-9C>G Single submitter candidiasis, familial, 8
- c.1476+7G>A Single submitter candidiasis, familial, 8
- c.1477-15T>C Single submitter candidiasis, familial, 8
- c.1551+10_1551+13del Single submitter candidiasis, familial, 8
- c.1551+14G>C Single submitter candidiasis, familial, 8
- c.1551+17del Single submitter candidiasis, familial, 8
- c.1552-5C>T Single submitter candidiasis, familial, 8
- c.1552-6C>A Single submitter candidiasis, familial, 8
- c.829+7G>A Single submitter candidiasis, familial, 8
- c.830-14G>A Single submitter candidiasis, familial, 8
- c.830-15T>G Single submitter candidiasis, familial, 8
- c.830-16T>G Single submitter candidiasis, familial, 8
- c.830-7C>T Single submitter candidiasis, familial, 8
- p.Ala302= Single submitter candidiasis, familial, 8
- p.Ala328= Single submitter candidiasis, familial, 8
- p.Ala363= Single submitter candidiasis, familial, 8
- p.Ala412= Single submitter candidiasis, familial, 8
- p.Ala473= Single submitter candidiasis, familial, 8
- p.Ala49= Single submitter candidiasis, familial, 8
- p.Arg3= Single submitter candidiasis, familial, 8
- p.Arg3Gln Single submitter candidiasis, familial, 8
- p.Arg542= Single submitter candidiasis, familial, 8
- p.Asn395= Single submitter candidiasis, familial, 8
- p.Asn425= Single submitter candidiasis, familial, 8
- p.Asp331= Single submitter candidiasis, familial, 8
- p.Asp469= Single submitter candidiasis, familial, 8
- p.Asp478= Single submitter candidiasis, familial, 8
- p.Gln525= Single submitter candidiasis, familial, 8
- p.Glu357= Single submitter candidiasis, familial, 8
- p.Glu448= Single submitter candidiasis, familial, 8
- p.Gly336= Single submitter candidiasis, familial, 8
- p.Gly472= Single submitter candidiasis, familial, 8
- p.His323= Single submitter candidiasis, familial, 8
- p.Ile508= Single submitter candidiasis, familial, 8
- p.Leu391= Single submitter candidiasis, familial, 8
- p.Leu560= Single submitter candidiasis, familial, 8
- p.Lys312= Single submitter candidiasis, familial, 8
- p.Phe418= Single submitter candidiasis, familial, 8
- p.Pro224= Single submitter candidiasis, familial, 8
- p.Pro24= Single submitter candidiasis, familial, 8
- p.Pro28Arg Single submitter candidiasis, familial, 8
- p.Pro298= Single submitter candidiasis, familial, 8
- p.Pro318= Single submitter candidiasis, familial, 8
- p.Pro335= Single submitter candidiasis, familial, 8
- p.Pro344= Single submitter candidiasis, familial, 8
- p.Pro370= Single submitter candidiasis, familial, 8
- p.Pro533= Single submitter candidiasis, familial, 8
- p.Pro558= Single submitter candidiasis, familial, 8
- p.Pro564= Single submitter candidiasis, familial, 8
- p.Ser383= Single submitter candidiasis, familial, 8
- p.Ser408= Single submitter candidiasis, familial, 8
- p.Ser48= Single submitter candidiasis, familial, 8
- p.Ser57= Single submitter candidiasis, familial, 8
- p.Thr411= Single submitter candidiasis, familial, 8
- p.Thr51= Single submitter candidiasis, familial, 8
- p.Thr559= Single submitter candidiasis, familial, 8
- p.Tyr407= Single submitter candidiasis, familial, 8
- p.Tyr549= Single submitter candidiasis, familial, 8
- p.Val510= Single submitter candidiasis, familial, 8
- p.Val529= Single submitter candidiasis, familial, 8
- p.Val562= Single submitter candidiasis, familial, 8
Uncertain significance 95
- p.Ala328Thr Multiple submitters candidiasis, familial, 8 ⚠
- p.Ala36Val Multiple submitters candidiasis, familial, 8 ⚠
- p.Ala473Thr Multiple submitters candidiasis, familial, 8 ⚠
- p.Arg84Cys Multiple submitters candidiasis, familial, 8 ⚠
- p.Asn45Lys Multiple submitters candidiasis, familial, 8 ⚠
- p.Gln18His Multiple submitters candidiasis, familial, 8 ⚠
- p.Glu115Lys Multiple submitters candidiasis, familial, 8 ⚠
- p.Glu479Lys Multiple submitters candidiasis, familial, 8 ⚠
- p.Gly353Asp Multiple submitters candidiasis, familial, 8 ⚠
- p.Ile290Ser Multiple submitters candidiasis, familial, 8 ⚠
- p.Ile290Val Multiple submitters candidiasis, familial, 8 ⚠
- p.Lys417Glu Multiple submitters candidiasis, familial, 8 ⚠
- p.Pro253Arg Multiple submitters candidiasis, familial, 8 ⚠
- p.Pro292Leu Multiple submitters candidiasis, familial, 8 ⚠
- p.Pro292Thr Multiple submitters candidiasis, familial, 8 ⚠
- p.Pro320Leu Multiple submitters candidiasis, familial, 8 ⚠
- p.Pro355Leu Multiple submitters candidiasis, familial, 8 ⚠
- p.Pro37Ser Multiple submitters candidiasis, familial, 8 ⚠
- p.Ser374Tyr Multiple submitters candidiasis, familial, 8 ⚠
- p.Thr486Ile Multiple submitters candidiasis, familial, 8 ⚠
- p.Val221Met Multiple submitters candidiasis, familial, 8 ⚠
- p.Val460Ile Multiple submitters candidiasis, familial, 8 ⚠
- c.1022+3A>G Single submitter candidiasis, familial, 8
- c.1023-3T>C Single submitter candidiasis, familial, 8
- c.1477-13T>A Single submitter candidiasis, familial, 8
- p.Ala188Val Single submitter candidiasis, familial, 8 ⚠
- p.Ala246Thr Single submitter candidiasis, familial, 8 ⚠
- p.Ala285Asp Single submitter candidiasis, familial, 8 ⚠
- p.Ala293Gly Single submitter candidiasis, familial, 8 ⚠
- p.Ala293Pro Single submitter ⚠
- p.Ala376Thr Single submitter candidiasis, familial, 8 ⚠
- p.Ala551Thr Single submitter ⚠
- p.Arg305Lys Single submitter ⚠
- p.Arg330Thr Single submitter candidiasis, familial, 8 ⚠
- p.Arg380Ser Single submitter ⚠
- p.Arg401Trp Single submitter candidiasis, familial, 8 ⚠
- p.Arg449Cys Single submitter candidiasis, familial, 8 ⚠
- p.Arg449His Single submitter candidiasis, familial, 8 ⚠
- p.Arg449Ser Single submitter candidiasis, familial, 8 ⚠
- p.Arg491Gln Single submitter candidiasis, familial, 8 ⚠
- p.Arg542Trp Single submitter candidiasis, familial, 8 ⚠
- p.Arg554Gln Single submitter ⚠
- p.Arg84Leu Single submitter candidiasis, familial, 8 ⚠
- p.Asn2Lys Single submitter candidiasis, familial, 8 ⚠
- p.Asn350Ser Single submitter candidiasis, familial, 8 ⚠
- p.Asn45Asp Single submitter candidiasis, familial, 8 ⚠
- p.Asn538fs Single submitter candidiasis, familial, 8
- p.Asn538Thr Single submitter ⚠
- p.Asp342Asn Single submitter ⚠
- p.Asp480Glu Single submitter candidiasis, familial, 8 ⚠
- p.Cys361Tyr Single submitter candidiasis, familial, 8 ⚠
- p.Gln341Glu Single submitter candidiasis, familial, 8 ⚠
- p.Gln525Arg Single submitter candidiasis, familial, 8 ⚠
- p.Gln561Ter Single submitter candidiasis, familial, 8
- p.Glu30Lys Single submitter candidiasis, familial, 8 ⚠
- p.Glu324Lys Single submitter ⚠
- p.Glu398Ala Single submitter candidiasis, familial, 8 ⚠
- p.Glu448Gly Single submitter ⚠
- p.Glu518Ter Single submitter candidiasis, familial, 8
- p.Glu546Lys Single submitter candidiasis, familial, 8 ⚠
- p.Glu8Lys Single submitter ⚠
- p.Gly336Arg Single submitter candidiasis, familial, 8 ⚠
- p.Gly353Ala Single submitter candidiasis, familial, 8 ⚠
- p.Gly389Arg Single submitter ⚠
- p.Gly58Arg Single submitter candidiasis, familial, 8 ⚠
- p.His485Arg Single submitter candidiasis, familial, 8 ⚠
- p.Ile443Thr Single submitter candidiasis, familial, 8 ⚠
- p.Lys312del Single submitter candidiasis, familial, 8
- p.Lys499Arg Single submitter candidiasis, familial, 8 ⚠
- p.Met413Val Single submitter candidiasis, familial, 8 ⚠
- p.Met42Val Single submitter candidiasis, familial, 8 ⚠
- p.Met457Thr Single submitter candidiasis, familial, 8 ⚠
- p.Met503Val Single submitter candidiasis, familial, 8 ⚠
- p.Met52Val Single submitter candidiasis, familial, 8 ⚠
- p.Pro271Ser Single submitter candidiasis, familial, 8 ⚠
- p.Pro298His Single submitter candidiasis, familial, 8 ⚠
- p.Pro335Leu Single submitter candidiasis, familial, 8 ⚠
- p.Pro355Ala Single submitter candidiasis, familial, 8 ⚠
- p.Pro533Ser Single submitter candidiasis, familial, 8 ⚠
- p.Pro6Ala Single submitter candidiasis, familial, 8 ⚠
- p.Ser159Leu Single submitter candidiasis, familial, 8 ⚠
- p.Ser475Leu Single submitter ⚠
- p.Ser48Phe Single submitter ⚠
- p.Ser56Phe Single submitter candidiasis, familial, 8 ⚠
- p.Ser57Phe Single submitter ⚠
- p.Ser57Pro Single submitter candidiasis, familial, 8 ⚠
- p.Thr393Ala Single submitter candidiasis, familial, 8 ⚠
- p.Thr51Ile Single submitter candidiasis, familial, 8 ⚠
- p.Thr522Ala Single submitter candidiasis, familial, 8 ⚠
- p.Thr522Pro Single submitter ⚠
- p.Trp523Ser Single submitter psoriasis 13, susceptibility to ⚠
- p.Tyr15Asp Single submitter candidiasis, familial, 8 ⚠
- p.Tyr466Asn Single submitter candidiasis, familial, 8 ⚠
- p.Tyr466Cys Single submitter ⚠
- p.Val470Met Single submitter candidiasis, familial, 8 ⚠