IL17RC — 868 ClinVar variants
All ClinVar germline IL17RC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 419 flagged for review →
1 Pathogenic · 5 Likely pathogenic · 22 Conflicting · 21 Benign · 19 Benign/Likely benign · 320 Likely benign · 480 Uncertain significance
Full IL17RC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 419
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 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IL17RC c.105+145C>T
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala30Thr
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala62Val
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala665Val
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg249Trp
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg686Gln
Conflicting
Single submitter
candidiasis, familial, 9
- IL17RC p.Glu100Lys Conflicting Single submitter
-
IL17RC p.Gly234Ser
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Gly715Glu
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Gly719Arg
Conflicting
Single submitter
candidiasis, familial, 9
- IL17RC p.Ile53Val Conflicting Single submitter
-
IL17RC p.Leu209Met
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu482Phe
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro57Leu
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ser590Arg
Conflicting
Single submitter
candidiasis, familial, 9
-
IL17RC p.Val54Met
Conflicting
Single submitter
candidiasis, familial, 9
Predictors lean, ClinVar uncertain 335
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 335
-
IL17RC c.105+146G>A
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC c.105+25G>A
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC c.105+33G>T
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC c.106-144G>A
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala166Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala30Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala480Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala514Thr
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala561Thr
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala602Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala671Asp
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala703Thr
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala716Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg136Cys
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg136His
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg14Gln
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg180Lys
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg23Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg249Gln
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg291Gly
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg305Gln
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg331Trp
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg430His
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg513Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg568Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg85His
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Asn253His
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Asp491Asn
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Asp491Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gln243Pro
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gln539His
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Glu229Asp
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Glu292Lys
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Glu573Gln
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Glu573Lys
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly196Trp
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly196Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly507Arg
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly574Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly584Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly596Glu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly623Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly707Arg
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly713Arg
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.His232Asn
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.His32Arg
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Leu148Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Leu271Phe
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Leu367Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Lys252Glu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Pro246Gln
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Pro35Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Pro414Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Pro59Ala
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Pro59Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ser374Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Thr64Met
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Val126Met
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Val275Met
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Val597Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Val60Met
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Val71Gly
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Val92Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC c.105+103G>T
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+110C>G
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC c.105+119C>G Uncertain significance Single submitter
-
IL17RC c.105+124G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+125C>T
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC c.105+131G>A Uncertain significance Single submitter
-
IL17RC c.105+134G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+145C>G
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+19G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+1G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+1G>C
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+28G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+31A>G
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+44A>G
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+51G>T
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC c.105+52G>C Uncertain significance Single submitter
- IL17RC c.105+53C>G Uncertain significance Single submitter
-
IL17RC c.105+56A>G
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+63C>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+64C>T
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+68G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+68G>T
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+74C>T
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+88G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+94G>T
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.105+95C>T
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.106-108G>T
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.106-109G>A
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.106-109G>C
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.106-114T>C
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.106-85A>G
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC c.106-90C>T Uncertain significance Single submitter
-
IL17RC c.106-91C>G
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC c.106-96C>T
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Ala119Val Uncertain significance Single submitter
-
IL17RC p.Ala123Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala131Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala135Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala135Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala208Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala296Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala303Val
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Ala304Ser Uncertain significance Single submitter
-
IL17RC p.Ala304Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala30Asp
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala327Val
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala454Val
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala474Val
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala481Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala493Val
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala508Pro
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala510Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala514Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala561Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala565Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala565Val
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala56Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Ala625Thr Uncertain significance Single submitter
-
IL17RC p.Ala62Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala642Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala681Glu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala681Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala681Val
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Ala687Ser Uncertain significance Single submitter
-
IL17RC p.Ala687Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala691Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala703Glu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala91Val
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg172Gln
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg23Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg295His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg295Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg40Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg498Lys
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg505His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg543His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg551Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Arg552His Uncertain significance Single submitter
-
IL17RC p.Arg552Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg624Trp
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg648Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg670Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg670His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg676Leu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Arg706Leu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Asn186Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Asn201Asp
Uncertain significance
Single submitter
candidiasis, familial, 9
Predictors split 68
The independent predictors disagree with each other — read with care.
-
IL17RC p.Ala326Thr
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala534Val
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg295Cys
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg624Pro
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Arg85Cys
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Gly584Asp
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Leu497Pro
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Phe647Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Pro192Ser
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Pro319Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Val650Leu
Uncertain significance
Multiple submitters
candidiasis, familial, 9
-
IL17RC p.Ala479Asp
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala481Glu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala545Asp
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Ala632Thr
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Arg172Pro Uncertain significance Single submitter
-
IL17RC p.Arg430Cys
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Asp438Glu Uncertain significance Single submitter
- IL17RC p.Asp438Tyr Uncertain significance Single submitter
-
IL17RC p.Asp523Val
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Asp693Tyr Uncertain significance Single submitter
-
IL17RC p.Cys162Tyr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Cys206Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Cys39Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Cys417Tyr
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Cys48Ser Uncertain significance Single submitter
-
IL17RC p.Cys615Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Cys83Tyr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Gln143Pro
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Gly402Asp
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Gly416Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Gly575Asp Uncertain significance Single submitter
-
IL17RC p.His639Tyr
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu212His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu322Arg
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu356Pro
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu412Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu482Pro
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu484His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu517Phe
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu580Phe
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Leu593Pro Uncertain significance Single submitter
-
IL17RC p.Leu66Met
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu688Ile
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Leu692Arg
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Phe526Val
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro210His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro257Leu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro257Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro289Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro319Arg
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro541Leu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Pro63Arg
Uncertain significance
Single submitter
candidiasis, familial, 9
- IL17RC p.Ser175Phe Uncertain significance Single submitter
-
IL17RC p.Ser612Trp
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Thr285Pro
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Thr426Lys
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Thr426Met
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Thr68Arg
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Trp42Cys
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Trp448Arg
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Trp592Cys
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Tyr463Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Tyr519His
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Tyr695Ser
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Val144Gly
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Val530Leu
Uncertain significance
Single submitter
candidiasis, familial, 9
-
IL17RC p.Val92Met
Conflicting
Single submitter
candidiasis, familial, 9
All IL17RC variants
Pathogenic 1
- p.Gln67Ter No assertion criteria candidiasis, familial, 9
Likely pathogenic 5
- c.1059+2T>G Single submitter candidiasis, familial, 9
- c.763-2_764del Single submitter candidiasis, familial, 9
- p.Arg401Ter Single submitter candidiasis, familial, 9
- p.Gln443fs Single submitter candidiasis, familial, 9
- p.Trp330Ter Single submitter
Conflicting classifications of pathogenicity 22
- c.105+145C>T Single submitter candidiasis, familial, 9 ⚠
- p.Ala30Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala62Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala665Val Single submitter candidiasis, familial, 9 ⚠
- p.Arg14Ter Single submitter candidiasis, familial, 9
- p.Arg249Trp Single submitter candidiasis, familial, 9 ⚠
- p.Arg686Gln Single submitter candidiasis, familial, 9 ⚠
- p.Asp353= Single submitter candidiasis, familial, 9
- p.Gln307Ter Single submitter candidiasis, familial, 9
- p.Glu100Lys Single submitter ⚠
- p.Gly234Ser Single submitter candidiasis, familial, 9 ⚠
- p.Gly715Glu Single submitter candidiasis, familial, 9 ⚠
- p.Gly719Arg Single submitter candidiasis, familial, 9 ⚠
- p.Ile53Val Single submitter ⚠
- p.Leu209Met Single submitter candidiasis, familial, 9 ⚠
- p.Leu482Phe Single submitter candidiasis, familial, 9 ⚠
- p.Leu488del Single submitter candidiasis, familial, 9
- p.Pro559fs Single submitter candidiasis, familial, 9
- p.Pro57Leu Single submitter candidiasis, familial, 9 ⚠
- p.Ser590Arg Single submitter candidiasis, familial, 9 ⚠
- p.Val54Met Single submitter candidiasis, familial, 9 ⚠
- p.Val92Met Single submitter candidiasis, familial, 9 ⚠
Benign 21
- c.105+123_105+124insCTTTCTGGT Multiple submitters candidiasis, familial, 9
- c.622+8C>T Multiple submitters candidiasis, familial, 9
- c.762+9T>A Multiple submitters candidiasis, familial, 9
- c.823-4C>T Multiple submitters candidiasis, familial, 9
- c.877+7C>T Multiple submitters candidiasis, familial, 9
- p.Ala318Thr Multiple submitters candidiasis, familial, 9
- p.Ala324Thr Multiple submitters candidiasis, familial, 9
- p.Arg40His Multiple submitters candidiasis, familial, 9
- p.Asp317= Multiple submitters candidiasis, familial, 9
- p.Leu12= Multiple submitters candidiasis, familial, 9
- p.Pro337Leu Multiple submitters candidiasis, familial, 9
- p.Thr78= Multiple submitters candidiasis, familial, 9
- p.Val214Met Multiple submitters candidiasis, familial, 9
- c.106-138_106-127del Single submitter candidiasis, familial, 9
- c.1279-18C>T Single submitter candidiasis, familial, 9
- c.1339-86G>A Single submitter
- c.622+115ATTC[5] Single submitter candidiasis, familial, 9
- c.763-16T>G Single submitter candidiasis, familial, 9
- c.-44dup Single submitter
- p.Gly51= Single submitter candidiasis, familial, 9
- p.Pro319= Single submitter candidiasis, familial, 9
Benign/Likely benign 19
- c.105+24C>T Multiple submitters candidiasis, familial, 9
- c.105+62G>A Multiple submitters candidiasis, familial, 9
- c.1522+1G>C Multiple submitters candidiasis, familial, 9
- c.466-18T>C Multiple submitters candidiasis, familial, 9
- c.877+11C>T Multiple submitters candidiasis, familial, 9
- c.878-16T>C Multiple submitters candidiasis, familial, 9
- p.Ala326Val Multiple submitters candidiasis, familial, 9
- p.Ala454= Multiple submitters candidiasis, familial, 9
- p.Ala565= Multiple submitters candidiasis, familial, 9
- p.Ala62= Multiple submitters candidiasis, familial, 9
- p.Asn349= Multiple submitters candidiasis, familial, 9
- p.Gln258His Multiple submitters candidiasis, familial, 9
- p.Gln307Arg Multiple submitters candidiasis, familial, 9
- p.Gly389= Multiple submitters candidiasis, familial, 9
- p.Gly711= Multiple submitters candidiasis, familial, 9
- p.Leu554Val Multiple submitters candidiasis, familial, 9
- p.Pro4= Multiple submitters candidiasis, familial, 9
- p.Ser111Leu Multiple submitters candidiasis, familial, 9
- p.Val560= Multiple submitters candidiasis, familial, 9
Likely benign 320
Showing the top 300 by review status; the full set is in the sitemap.
- c.105+12A>G Multiple submitters candidiasis, familial, 9
- c.1059+20C>T Multiple submitters candidiasis, familial, 9
- c.1060-12C>T Multiple submitters candidiasis, familial, 9
- c.1278+13C>T Multiple submitters candidiasis, familial, 9
- c.1278+14G>A Multiple submitters candidiasis, familial, 9
- c.1483+16C>A Multiple submitters candidiasis, familial, 9
- c.1483+7G>T Multiple submitters candidiasis, familial, 9
- c.281-7C>T Multiple submitters candidiasis, familial, 9
- c.577+15A>G Multiple submitters candidiasis, familial, 9
- c.823-9C>T Multiple submitters candidiasis, familial, 9
- c.878-7C>T Multiple submitters candidiasis, familial, 9
- p.Ala303= Multiple submitters candidiasis, familial, 9
- p.Ala326= Multiple submitters candidiasis, familial, 9
- p.Ala327= Multiple submitters candidiasis, familial, 9
- p.Arg14= Multiple submitters candidiasis, familial, 9
- p.Arg295= Multiple submitters candidiasis, familial, 9
- p.Arg401= Multiple submitters candidiasis, familial, 9
- p.Asp461= Multiple submitters candidiasis, familial, 9
- p.Cys270= Multiple submitters candidiasis, familial, 9
- p.Gly218= Multiple submitters candidiasis, familial, 9
- p.Gly604= Multiple submitters candidiasis, familial, 9
- p.Leu356= Multiple submitters candidiasis, familial, 9
- p.Phe105= Multiple submitters candidiasis, familial, 9
- p.Phe662= Multiple submitters candidiasis, familial, 9
- p.Pro323= Multiple submitters candidiasis, familial, 9
- p.Pro333Leu Multiple submitters candidiasis, familial, 9
- p.Pro35= Multiple submitters candidiasis, familial, 9
- p.Ser282= Multiple submitters candidiasis, familial, 9
- p.Ser555= Multiple submitters candidiasis, familial, 9
- p.Ser590Gly Multiple submitters candidiasis, familial, 9
- p.Ser674= Multiple submitters candidiasis, familial, 9
- p.Thr64= Multiple submitters candidiasis, familial, 9
- p.Val149Leu Multiple submitters candidiasis, familial, 9
- p.Val283Ile Multiple submitters candidiasis, familial, 9
- p.Val54Ala Multiple submitters candidiasis, familial, 9
- c.105+102T>C Single submitter candidiasis, familial, 9
- c.105+115C>T Single submitter candidiasis, familial, 9
- c.105+129T>C Single submitter candidiasis, familial, 9
- c.105+49T>C Single submitter candidiasis, familial, 9
- c.105+70C>T Single submitter candidiasis, familial, 9
- c.105+84T>C Single submitter candidiasis, familial, 9
- c.105+93T>C Single submitter candidiasis, familial, 9
- c.1059+16G>A Single submitter candidiasis, familial, 9
- c.1059+17G>T Single submitter candidiasis, familial, 9
- c.1059+19A>G Single submitter candidiasis, familial, 9
- c.106-104T>G Single submitter candidiasis, familial, 9
- c.106-115C>T Single submitter candidiasis, familial, 9
- c.106-142A>G Single submitter
- c.106-14T>G Single submitter candidiasis, familial, 9
- c.106-4C>T Single submitter candidiasis, familial, 9
- c.106-5C>G Single submitter candidiasis, familial, 9
- c.106-5C>T Single submitter candidiasis, familial, 9
- c.106-66T>G Single submitter candidiasis, familial, 9
- c.106-83A>G Single submitter candidiasis, familial, 9
- c.106-92G>A Single submitter candidiasis, familial, 9
- c.106-95G>A Single submitter candidiasis, familial, 9
- c.1060-7del Single submitter candidiasis, familial, 9
- c.1110+9G>A Single submitter candidiasis, familial, 9
- c.1111-15G>T Single submitter candidiasis, familial, 9
- c.1111-17T>C Single submitter candidiasis, familial, 9
- c.1111-18A>G Single submitter candidiasis, familial, 9
- c.1157-10C>T Single submitter candidiasis, familial, 9
- c.1157-11A>T Single submitter candidiasis, familial, 9
- c.1157-14C>T Single submitter candidiasis, familial, 9
- c.1157-16C>T Single submitter candidiasis, familial, 9
- c.1157-17C>T Single submitter candidiasis, familial, 9
- c.127+15T>C Single submitter candidiasis, familial, 9
- c.127+20A>G Single submitter
- c.127+8T>G Single submitter candidiasis, familial, 9
- c.1278+15A>G Single submitter candidiasis, familial, 9
- c.1278+15A>T Single submitter candidiasis, familial, 9
- c.1278+9T>G Single submitter candidiasis, familial, 9
- c.1279-19C>T Single submitter candidiasis, familial, 9
- c.128-13C>A Single submitter candidiasis, familial, 9
- c.128-16G>A Single submitter candidiasis, familial, 9
- c.128-18C>G Single submitter candidiasis, familial, 9
- c.128-20A>G Single submitter
- c.128-7C>T Single submitter candidiasis, familial, 9
- c.1338+15G>C Single submitter candidiasis, familial, 9
- c.1338+17A>G Single submitter candidiasis, familial, 9
- c.1338+8G>C Single submitter candidiasis, familial, 9
- c.1339-11G>C Single submitter candidiasis, familial, 9
- c.1339-13T>C Single submitter candidiasis, familial, 9
- c.1339-15G>T Single submitter candidiasis, familial, 9
- c.1387+10G>C Single submitter candidiasis, familial, 9
- c.1387+10G>T Single submitter candidiasis, familial, 9
- c.1387+11_1387+12insTT Single submitter candidiasis, familial, 9
- c.1387+17C>G Single submitter candidiasis, familial, 9
- c.1387+20C>T Single submitter candidiasis, familial, 9
- c.1387+9T>A Single submitter candidiasis, familial, 9
- c.1388-13C>T Single submitter candidiasis, familial, 9
- c.1483+19C>A Single submitter candidiasis, familial, 9
- c.1483+9T>C Single submitter candidiasis, familial, 9
- c.1484-17C>A Single submitter candidiasis, familial, 9
- c.1522+19dup Single submitter candidiasis, familial, 9
- c.1522+9G>A Single submitter
- c.1523-11T>C Single submitter candidiasis, familial, 9
- c.1523-14G>A Single submitter candidiasis, familial, 9
- c.1523-16_1523-15del Single submitter candidiasis, familial, 9
- c.1523-16C>T Single submitter candidiasis, familial, 9
- c.1523-19C>T Single submitter candidiasis, familial, 9
- c.1523-33A>C Single submitter
- c.1523-5G>C Single submitter candidiasis, familial, 9
- c.1523-6C>T Single submitter candidiasis, familial, 9
- c.1523-7C>G Single submitter candidiasis, familial, 9
- c.280+11C>T Single submitter candidiasis, familial, 9
- c.280+9G>C Single submitter candidiasis, familial, 9
- c.355+12C>G Single submitter candidiasis, familial, 9
- c.355+19G>T Single submitter candidiasis, familial, 9
- c.355+20C>T Single submitter candidiasis, familial, 9
- c.356-10T>C Single submitter candidiasis, familial, 9
- c.356-15C>A Single submitter candidiasis, familial, 9
- c.356-16dup Single submitter candidiasis, familial, 9
- c.356-19C>G Single submitter candidiasis, familial, 9
- c.356-19C>T Single submitter candidiasis, familial, 9
- c.356-7C>T Single submitter candidiasis, familial, 9
- c.466-12C>A Single submitter candidiasis, familial, 9
- c.466-12C>T Single submitter candidiasis, familial, 9
- c.466-13C>A Single submitter candidiasis, familial, 9
- c.466-18T>G Single submitter candidiasis, familial, 9
- c.577+13C>T Single submitter candidiasis, familial, 9
- c.577+7G>A Single submitter candidiasis, familial, 9
- c.577+9A>G Single submitter candidiasis, familial, 9
- c.578-5C>T Single submitter candidiasis, familial, 9
- c.622+10A>G Single submitter candidiasis, familial, 9
- c.622+12G>A Single submitter candidiasis, familial, 9
- c.623-4C>T Single submitter candidiasis, familial, 9
- c.822+14C>G Single submitter candidiasis, familial, 9
- c.822+14C>T Single submitter candidiasis, familial, 9
- c.822+17G>A Single submitter candidiasis, familial, 9
- c.823-15C>G Single submitter candidiasis, familial, 9
- c.823-18C>T Single submitter candidiasis, familial, 9
- c.877+10C>G Single submitter candidiasis, familial, 9
- c.877+11C>A Single submitter candidiasis, familial, 9
- c.877+11C>G Single submitter candidiasis, familial, 9
- c.877+13G>A Single submitter candidiasis, familial, 9
- c.877+15C>T Single submitter candidiasis, familial, 9
- c.877+18G>A Single submitter candidiasis, familial, 9
- c.877+18G>C Single submitter candidiasis, familial, 9
- c.877+20G>C Single submitter
- c.877+8G>A Single submitter candidiasis, familial, 9
- c.878-17G>A Single submitter candidiasis, familial, 9
- c.878-18T>C Single submitter candidiasis, familial, 9
- c.878-19C>A Single submitter candidiasis, familial, 9
- c.878-19C>T Single submitter
- c.878-5T>C Single submitter candidiasis, familial, 9
- c.878-7C>A Single submitter candidiasis, familial, 9
- c.878-9T>C Single submitter candidiasis, familial, 9
- p.Ala119= Single submitter candidiasis, familial, 9
- p.Ala147= Single submitter candidiasis, familial, 9
- p.Ala166= Single submitter candidiasis, familial, 9
- p.Ala208= Single submitter candidiasis, familial, 9
- p.Ala318= Single submitter candidiasis, familial, 9
- p.Ala424= Single submitter candidiasis, familial, 9
- p.Ala474= Single submitter candidiasis, familial, 9
- p.Ala480= Single submitter candidiasis, familial, 9
- p.Ala493= Single submitter candidiasis, familial, 9
- p.Ala508= Single submitter candidiasis, familial, 9
- p.Ala509= Single submitter candidiasis, familial, 9
- p.Ala521= Single submitter candidiasis, familial, 9
- p.Ala545= Single submitter candidiasis, familial, 9
- p.Ala556= Single submitter candidiasis, familial, 9
- p.Ala585= Single submitter candidiasis, familial, 9
- p.Ala642= Single submitter
- p.Ala681= Single submitter candidiasis, familial, 9
- p.Ala91= Single submitter candidiasis, familial, 9
- p.Arg249= Single submitter candidiasis, familial, 9
- p.Arg331Gln Single submitter candidiasis, familial, 9
- p.Arg407= Single submitter candidiasis, familial, 9
- p.Arg430= Single submitter candidiasis, familial, 9
- p.Arg498= Single submitter candidiasis, familial, 9
- p.Arg511= Single submitter candidiasis, familial, 9
- p.Arg567= Single submitter candidiasis, familial, 9
- p.Arg624Gln Single submitter candidiasis, familial, 9
- p.Arg676= Single submitter candidiasis, familial, 9
- p.Arg706= Single submitter candidiasis, familial, 9
- p.Arg85= Single submitter candidiasis, familial, 9
- p.Asn186= Single submitter
- p.Asn213= Single submitter candidiasis, familial, 9
- p.Asn220= Single submitter candidiasis, familial, 9
- p.Asn240= Single submitter candidiasis, familial, 9
- p.Asn253= Single submitter candidiasis, familial, 9
- p.Asp281= Single submitter candidiasis, familial, 9
- p.Asp29= Single submitter candidiasis, familial, 9
- p.Asp293= Single submitter candidiasis, familial, 9
- p.Asp336= Single submitter candidiasis, familial, 9
- p.Asp393= Single submitter candidiasis, familial, 9
- p.Asp405= Single submitter candidiasis, familial, 9
- p.Asp449= Single submitter candidiasis, familial, 9
- p.Asp451= Single submitter candidiasis, familial, 9
- p.Asp619= Single submitter candidiasis, familial, 9
- p.Asp81= Single submitter
- p.Cys137= Single submitter candidiasis, familial, 9
- p.Cys329= Single submitter candidiasis, familial, 9
- p.Cys417= Single submitter candidiasis, familial, 9
- p.Cys475= Single submitter candidiasis, familial, 9
- p.Gln258= Single submitter candidiasis, familial, 9
- p.Gln307= Single submitter candidiasis, familial, 9
- p.Gln437= Single submitter candidiasis, familial, 9
- p.Gln572= Single submitter candidiasis, familial, 9
- p.Gln594= Single submitter candidiasis, familial, 9
- p.Gln622= Single submitter candidiasis, familial, 9
- p.Gln689= Single submitter candidiasis, familial, 9
- p.Glu103= Single submitter candidiasis, familial, 9
- p.Glu141= Single submitter candidiasis, familial, 9
- p.Glu229= Single submitter candidiasis, familial, 9
- p.Glu682= Single submitter candidiasis, familial, 9
- p.Glu98= Single submitter candidiasis, familial, 9
- p.Gly106= Single submitter
- p.Gly168= Single submitter candidiasis, familial, 9
- p.Gly196= Single submitter candidiasis, familial, 9
- p.Gly26= Single submitter candidiasis, familial, 9
- p.Gly334= Single submitter candidiasis, familial, 9
- p.Gly335= Single submitter candidiasis, familial, 9
- p.Gly558= Single submitter candidiasis, familial, 9
- p.Gly574= Single submitter candidiasis, familial, 9
- p.Gly599= Single submitter candidiasis, familial, 9
- p.Gly601= Single submitter
- p.Gly664= Single submitter candidiasis, familial, 9
- p.Gly707= Single submitter candidiasis, familial, 9
- p.Gly719= Single submitter candidiasis, familial, 9
- p.His32= Single submitter candidiasis, familial, 9
- p.His606= Single submitter candidiasis, familial, 9
- p.His697= Single submitter
- p.Ile203= Single submitter candidiasis, familial, 9
- p.Ile260= Single submitter candidiasis, familial, 9
- p.Ile464Val Single submitter
- p.Ile53= Single submitter candidiasis, familial, 9
- p.Leu19= Single submitter candidiasis, familial, 9
- p.Leu197= Single submitter candidiasis, familial, 9
- p.Leu209= Single submitter candidiasis, familial, 9
- p.Leu237= Single submitter candidiasis, familial, 9
- p.Leu24= Single submitter candidiasis, familial, 9
- p.Leu254= Single submitter
- p.Leu278= Single submitter candidiasis, familial, 9
- p.Leu311= Single submitter candidiasis, familial, 9
- p.Leu315= Single submitter candidiasis, familial, 9
- p.Leu316= Single submitter candidiasis, familial, 9
- p.Leu322= Single submitter candidiasis, familial, 9
- p.Leu360= Single submitter candidiasis, familial, 9
- p.Leu367= Single submitter candidiasis, familial, 9
- p.Leu379= Single submitter candidiasis, familial, 9
- p.Leu435= Single submitter candidiasis, familial, 9
- p.Leu436= Single submitter candidiasis, familial, 9
- p.Leu439= Single submitter candidiasis, familial, 9
- p.Leu447= Single submitter candidiasis, familial, 9
- p.Leu452= Single submitter candidiasis, familial, 9
- p.Leu47= Single submitter candidiasis, familial, 9
- p.Leu477= Single submitter candidiasis, familial, 9
- p.Leu49= Single submitter candidiasis, familial, 9
- p.Leu497= Single submitter candidiasis, familial, 9
- p.Leu499= Single submitter candidiasis, familial, 9
- p.Leu517= Single submitter candidiasis, familial, 9
- p.Leu518= Single submitter candidiasis, familial, 9
- p.Leu529= Single submitter candidiasis, familial, 9
- p.Leu537= Single submitter candidiasis, familial, 9
- p.Leu548= Single submitter candidiasis, familial, 9
- p.Leu554= Single submitter candidiasis, familial, 9
- p.Leu571= Single submitter candidiasis, familial, 9
- p.Leu580= Single submitter candidiasis, familial, 9
- p.Leu61= Single submitter candidiasis, familial, 9
- p.Leu613= Single submitter candidiasis, familial, 9
- p.Leu655= Single submitter candidiasis, familial, 9
- p.Leu66= Single submitter candidiasis, familial, 9
- p.Leu692= Single submitter candidiasis, familial, 9
- p.Leu7= Single submitter candidiasis, familial, 9
- p.Leu70Val Single submitter candidiasis, familial, 9
- p.Leu82= Single submitter candidiasis, familial, 9
- p.Leu90= Single submitter candidiasis, familial, 9
- p.Lys362= Single submitter candidiasis, familial, 9
- p.Phe233= Single submitter candidiasis, familial, 9
- p.Phe609= Single submitter candidiasis, familial, 9
- p.Pro2= Single submitter candidiasis, familial, 9
- p.Pro204= Single submitter candidiasis, familial, 9
- p.Pro246= Single submitter candidiasis, familial, 9
- p.Pro269= Single submitter candidiasis, familial, 9
- p.Pro280= Single submitter candidiasis, familial, 9
- p.Pro289= Single submitter candidiasis, familial, 9
- p.Pro333= Single submitter candidiasis, familial, 9
- p.Pro343= Single submitter candidiasis, familial, 9
- p.Pro344= Single submitter candidiasis, familial, 9
- p.Pro359= Single submitter candidiasis, familial, 9
- p.Pro403= Single submitter candidiasis, familial, 9
- p.Pro57= Single submitter candidiasis, familial, 9
- p.Pro583= Single submitter candidiasis, familial, 9
- p.Pro59= Single submitter candidiasis, familial, 9
- p.Pro600= Single submitter candidiasis, familial, 9
- p.Pro605= Single submitter candidiasis, familial, 9
- p.Pro626= Single submitter candidiasis, familial, 9
- p.Pro651= Single submitter candidiasis, familial, 9
- p.Pro699= Single submitter candidiasis, familial, 9
- p.Pro704= Single submitter candidiasis, familial, 9
- p.Ser15= Single submitter candidiasis, familial, 9
- p.Ser175= Single submitter candidiasis, familial, 9
- p.Ser202= Single submitter candidiasis, familial, 9
- p.Ser321= Single submitter candidiasis, familial, 9
- p.Ser373= Single submitter candidiasis, familial, 9
- p.Ser374= Single submitter candidiasis, familial, 9
- p.Ser408= Single submitter candidiasis, familial, 9
- p.Ser506= Single submitter candidiasis, familial, 9
Uncertain significance 480
Showing the top 300 by review status; the full set is in the sitemap.
- c.105+146G>A Multiple submitters candidiasis, familial, 9 ⚠
- c.105+25G>A Multiple submitters candidiasis, familial, 9 ⚠
- c.105+33G>T Multiple submitters candidiasis, familial, 9 ⚠
- c.106-144G>A Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala166Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala30Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala326Thr Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala480Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala514Thr Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala534Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala561Thr Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala602Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala671Asp Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala703Thr Multiple submitters candidiasis, familial, 9 ⚠
- p.Ala716Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg136Cys Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg136His Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg14Gln Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg180Lys Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg23Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg249Gln Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg291Gly Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg295Cys Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg305Gln Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg331Trp Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg430His Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg513Leu Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg568Leu Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg624Pro Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg85Cys Multiple submitters candidiasis, familial, 9 ⚠
- p.Arg85His Multiple submitters candidiasis, familial, 9 ⚠
- p.Asn253His Multiple submitters candidiasis, familial, 9 ⚠
- p.Asp491Asn Multiple submitters candidiasis, familial, 9 ⚠
- p.Asp491Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Gln243Pro Multiple submitters candidiasis, familial, 9 ⚠
- p.Gln539His Multiple submitters candidiasis, familial, 9 ⚠
- p.Glu229Asp Multiple submitters candidiasis, familial, 9 ⚠
- p.Glu292Lys Multiple submitters candidiasis, familial, 9 ⚠
- p.Glu573Gln Multiple submitters candidiasis, familial, 9 ⚠
- p.Glu573Lys Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly196Trp Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly196Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly507Arg Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly574Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly584Asp Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly584Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly596Glu Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly623Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly707Arg Multiple submitters candidiasis, familial, 9 ⚠
- p.Gly713Arg Multiple submitters candidiasis, familial, 9 ⚠
- p.His232Asn Multiple submitters candidiasis, familial, 9 ⚠
- p.His32Arg Multiple submitters candidiasis, familial, 9 ⚠
- p.Leu148Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Leu271Phe Multiple submitters candidiasis, familial, 9 ⚠
- p.Leu367Val Multiple submitters candidiasis, familial, 9 ⚠
- p.Leu497Pro Multiple submitters candidiasis, familial, 9 ⚠
- p.Lys252Glu Multiple submitters candidiasis, familial, 9 ⚠
- p.Phe647Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Pro192Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Pro246Gln Multiple submitters candidiasis, familial, 9 ⚠
- p.Pro319Leu Multiple submitters candidiasis, familial, 9 ⚠
- p.Pro35Leu Multiple submitters candidiasis, familial, 9 ⚠
- p.Pro414Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Pro59Ala Multiple submitters candidiasis, familial, 9 ⚠
- p.Pro59Ser Multiple submitters candidiasis, familial, 9 ⚠
- p.Ser374Leu Multiple submitters candidiasis, familial, 9 ⚠
- p.Thr64Met Multiple submitters candidiasis, familial, 9 ⚠
- p.Val126Met Multiple submitters candidiasis, familial, 9 ⚠
- p.Val275Met Multiple submitters candidiasis, familial, 9 ⚠
- p.Val597Leu Multiple submitters candidiasis, familial, 9 ⚠
- p.Val60Met Multiple submitters candidiasis, familial, 9 ⚠
- p.Val650Leu Multiple submitters candidiasis, familial, 9 ⚠
- p.Val71Gly Multiple submitters candidiasis, familial, 9 ⚠
- p.Val92Leu Multiple submitters candidiasis, familial, 9 ⚠
- c.105+103G>T Single submitter candidiasis, familial, 9 ⚠
- c.105+110C>G Single submitter candidiasis, familial, 9 ⚠
- c.105+115del Single submitter candidiasis, familial, 9
- c.105+119C>G Single submitter ⚠
- c.105+124G>A Single submitter candidiasis, familial, 9 ⚠
- c.105+125C>T Single submitter candidiasis, familial, 9 ⚠
- c.105+131G>A Single submitter ⚠
- c.105+134G>A Single submitter candidiasis, familial, 9 ⚠
- c.105+142_105+144del Single submitter candidiasis, familial, 9
- c.105+145C>G Single submitter candidiasis, familial, 9 ⚠
- c.105+17G>A Single submitter candidiasis, familial, 9
- c.105+18G>A Single submitter candidiasis, familial, 9
- c.105+19G>A Single submitter candidiasis, familial, 9 ⚠
- c.105+1G>A Single submitter candidiasis, familial, 9 ⚠
- c.105+1G>C Single submitter candidiasis, familial, 9 ⚠
- c.105+28G>A Single submitter candidiasis, familial, 9 ⚠
- c.105+31A>G Single submitter candidiasis, familial, 9 ⚠
- c.105+44A>G Single submitter candidiasis, familial, 9 ⚠
- c.105+51G>T Single submitter candidiasis, familial, 9 ⚠
- c.105+52G>C Single submitter ⚠
- c.105+53C>G Single submitter ⚠
- c.105+56A>G Single submitter candidiasis, familial, 9 ⚠
- c.105+63C>A Single submitter candidiasis, familial, 9 ⚠
- c.105+64C>T Single submitter candidiasis, familial, 9 ⚠
- c.105+68G>A Single submitter candidiasis, familial, 9 ⚠
- c.105+68G>T Single submitter candidiasis, familial, 9 ⚠
- c.105+74C>T Single submitter candidiasis, familial, 9 ⚠
- c.105+88G>A Single submitter candidiasis, familial, 9 ⚠
- c.105+94G>T Single submitter candidiasis, familial, 9 ⚠
- c.105+95C>T Single submitter candidiasis, familial, 9 ⚠
- c.1059+1G>A Single submitter candidiasis, familial, 9
- c.106-108G>T Single submitter candidiasis, familial, 9 ⚠
- c.106-109G>A Single submitter candidiasis, familial, 9 ⚠
- c.106-109G>C Single submitter candidiasis, familial, 9 ⚠
- c.106-114T>C Single submitter candidiasis, familial, 9 ⚠
- c.106-131del Single submitter candidiasis, familial, 9
- c.106-144del Single submitter candidiasis, familial, 9
- c.106-85A>G Single submitter candidiasis, familial, 9 ⚠
- c.106-90C>T Single submitter ⚠
- c.106-91C>G Single submitter candidiasis, familial, 9 ⚠
- c.106-96C>T Single submitter candidiasis, familial, 9 ⚠
- c.1110+5G>C Single submitter candidiasis, familial, 9
- c.1111-3C>G Single submitter candidiasis, familial, 9
- c.1136_1279-108del Single submitter candidiasis, familial, 9
- c.127+1G>A Single submitter candidiasis, familial, 9
- c.127+6T>C Single submitter candidiasis, familial, 9
- c.128-10C>G Single submitter candidiasis, familial, 9
- c.128-2A>C Single submitter candidiasis, familial, 9
- c.128-2A>T Single submitter candidiasis, familial, 9
- c.1338+5G>A Single submitter candidiasis, familial, 9
- c.1387+5G>A Single submitter candidiasis, familial, 9
- c.1387+6T>C Single submitter candidiasis, familial, 9
- c.1388-10G>A Single submitter candidiasis, familial, 9
- c.1388-1G>A Single submitter candidiasis, familial, 9
- c.1483+1G>A Single submitter candidiasis, familial, 9
- c.1483+6C>G Single submitter candidiasis, familial, 9
- c.1483+6C>T Single submitter candidiasis, familial, 9
- c.1522+1dup Single submitter candidiasis, familial, 9
- c.1522+3G>T Single submitter candidiasis, familial, 9
- c.280+18T>G Single submitter candidiasis, familial, 9
- c.355+1G>A Single submitter candidiasis, familial, 9
- c.355+6G>A Single submitter candidiasis, familial, 9
- c.465_465+1del Single submitter candidiasis, familial, 9
- c.465+4T>C Single submitter candidiasis, familial, 9
- c.465+6C>A Single submitter candidiasis, familial, 9
- c.577+5G>A Single submitter candidiasis, familial, 9
- c.578-5C>A Single submitter candidiasis, familial, 9
- c.762+5G>A Single submitter candidiasis, familial, 9
- c.762+6G>A Single submitter candidiasis, familial, 9
- c.762+6G>T Single submitter candidiasis, familial, 9
- c.877+3G>A Single submitter candidiasis, familial, 9
- p.710PGAG[1] Single submitter candidiasis, familial, 9
- p.710PGAG[3] Single submitter candidiasis, familial, 9
- p.Ala119Val Single submitter ⚠
- p.Ala123Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala131Gly Single submitter candidiasis, familial, 9 ⚠
- p.Ala135Gly Single submitter candidiasis, familial, 9 ⚠
- p.Ala135Ser Single submitter candidiasis, familial, 9 ⚠
- p.Ala208Ser Single submitter candidiasis, familial, 9 ⚠
- p.Ala296Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala303Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala304Ser Single submitter ⚠
- p.Ala304Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala30Asp Single submitter candidiasis, familial, 9 ⚠
- p.Ala324fs Single submitter candidiasis, familial, 9
- p.Ala327Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala454Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala474Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala479Asp Single submitter candidiasis, familial, 9 ⚠
- p.Ala480fs Single submitter candidiasis, familial, 9
- p.Ala481Glu Single submitter candidiasis, familial, 9 ⚠
- p.Ala481Gly Single submitter candidiasis, familial, 9 ⚠
- p.Ala493Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala508Pro Single submitter candidiasis, familial, 9 ⚠
- p.Ala510Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala514Ser Single submitter candidiasis, familial, 9 ⚠
- p.Ala545Asp Single submitter candidiasis, familial, 9 ⚠
- p.Ala561Gly Single submitter candidiasis, familial, 9 ⚠
- p.Ala565Gly Single submitter candidiasis, familial, 9 ⚠
- p.Ala565Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala56Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala625Thr Single submitter ⚠
- p.Ala62Gly Single submitter candidiasis, familial, 9 ⚠
- p.Ala632Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala642del Single submitter candidiasis, familial, 9
- p.Ala642Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala681Glu Single submitter candidiasis, familial, 9 ⚠
- p.Ala681Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala681Val Single submitter candidiasis, familial, 9 ⚠
- p.Ala687Ser Single submitter ⚠
- p.Ala687Thr Single submitter candidiasis, familial, 9 ⚠
- p.Ala691Ser Single submitter candidiasis, familial, 9 ⚠
- p.Ala703Glu Single submitter candidiasis, familial, 9 ⚠
- p.Ala712fs Single submitter candidiasis, familial, 9
- p.Ala91Val Single submitter candidiasis, familial, 9 ⚠
- p.Arg172Gln Single submitter candidiasis, familial, 9 ⚠
- p.Arg172Pro Single submitter ⚠
- p.Arg172Ter Single submitter candidiasis, familial, 9
- p.Arg23Thr Single submitter candidiasis, familial, 9 ⚠
- p.Arg295His Single submitter candidiasis, familial, 9 ⚠
- p.Arg295Ser Single submitter candidiasis, familial, 9 ⚠
- p.Arg305Ter Single submitter candidiasis, familial, 9
- p.Arg40Gly Single submitter candidiasis, familial, 9 ⚠
- p.Arg430Cys Single submitter candidiasis, familial, 9 ⚠
- p.Arg498Lys Single submitter candidiasis, familial, 9 ⚠
- p.Arg505His Single submitter candidiasis, familial, 9 ⚠
- p.Arg543His Single submitter candidiasis, familial, 9 ⚠
- p.Arg551Gly Single submitter candidiasis, familial, 9 ⚠
- p.Arg552His Single submitter ⚠
- p.Arg552Ser Single submitter candidiasis, familial, 9 ⚠
- p.Arg624Trp Single submitter candidiasis, familial, 9 ⚠
- p.Arg648Gly Single submitter candidiasis, familial, 9 ⚠
- p.Arg670Gly Single submitter candidiasis, familial, 9 ⚠
- p.Arg670His Single submitter candidiasis, familial, 9 ⚠
- p.Arg676Leu Single submitter candidiasis, familial, 9 ⚠
- p.Arg706Leu Single submitter candidiasis, familial, 9 ⚠
- p.Asn186Ser Single submitter candidiasis, familial, 9 ⚠
- p.Asn201Asp Single submitter candidiasis, familial, 9 ⚠
- p.Asn201Lys Single submitter candidiasis, familial, 9 ⚠
- p.Asn220His Single submitter candidiasis, familial, 9 ⚠
- p.Asn220Ser Single submitter candidiasis, familial, 9 ⚠
- p.Asn240Ile Single submitter candidiasis, familial, 9 ⚠
- p.Asn253Asp Single submitter candidiasis, familial, 9 ⚠
- p.Asn286Thr Single submitter candidiasis, familial, 9 ⚠
- p.Asn299Ser Single submitter candidiasis, familial, 9 ⚠
- p.Asp161Glu Single submitter ⚠
- p.Asp193Gly Single submitter ⚠
- p.Asp219Glu Single submitter ⚠
- p.Asp293Glu Single submitter candidiasis, familial, 9 ⚠
- p.Asp29Gly Single submitter candidiasis, familial, 9 ⚠
- p.Asp336Asn Single submitter candidiasis, familial, 9 ⚠
- p.Asp336fs Single submitter candidiasis, familial, 9
- p.Asp394Asn Single submitter candidiasis, familial, 9 ⚠
- p.Asp438Glu Single submitter ⚠
- p.Asp438Tyr Single submitter ⚠
- p.Asp450Asn Single submitter candidiasis, familial, 9 ⚠
- p.Asp450Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Asp45Val Single submitter candidiasis, familial, 9
- p.Asp491His Single submitter ⚠
- p.Asp503Glu Single submitter candidiasis, familial, 9 ⚠
- p.Asp522Val Single submitter ⚠
- p.Asp523Val Single submitter candidiasis, familial, 9 ⚠
- p.Asp607Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Asp661Glu Single submitter candidiasis, familial, 9 ⚠
- p.Asp693Tyr Single submitter ⚠
- p.Asp79Asn Single submitter candidiasis, familial, 9 ⚠
- p.Cys137Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Cys162Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Cys206Ser Single submitter candidiasis, familial, 9 ⚠
- p.Cys206Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Cys320Arg Single submitter candidiasis, familial, 9 ⚠
- p.Cys329Phe Single submitter candidiasis, familial, 9 ⚠
- p.Cys368Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Cys382Arg Single submitter candidiasis, familial, 9 ⚠
- p.Cys39Ser Single submitter candidiasis, familial, 9 ⚠
- p.Cys417Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Cys48Ser Single submitter ⚠
- p.Cys615Ser Single submitter candidiasis, familial, 9 ⚠
- p.Cys633_Ala642del Single submitter candidiasis, familial, 9
- p.Cys80Arg Single submitter candidiasis, familial, 9 ⚠
- p.Cys83Tyr Single submitter candidiasis, familial, 9 ⚠
- p.Gln122Arg Single submitter ⚠
- p.Gln122Pro Single submitter candidiasis, familial, 9 ⚠
- p.Gln143Pro Single submitter candidiasis, familial, 9 ⚠
- p.Gln150Lys Single submitter candidiasis, familial, 9 ⚠
- p.Gln189Glu Single submitter candidiasis, familial, 9 ⚠
- p.Gln231Ter Single submitter candidiasis, familial, 9
- p.Gln243Glu Single submitter candidiasis, familial, 9 ⚠
- p.Gln258Lys Single submitter candidiasis, familial, 9
- p.Gln28Ter Single submitter candidiasis, familial, 9
- p.Gln298His Single submitter candidiasis, familial, 9 ⚠
- p.Gln312Ter Single submitter candidiasis, familial, 9
- p.Gln339Lys Single submitter candidiasis, familial, 9 ⚠
- p.Gln557Glu Single submitter candidiasis, familial, 9 ⚠
- p.Gln622Arg Single submitter candidiasis, familial, 9 ⚠
- p.Gln622Ter Single submitter candidiasis, familial, 9
- p.Gln678Arg Single submitter candidiasis, familial, 9 ⚠
- p.Gln683Ter Single submitter candidiasis, familial, 9
- p.Gln689Ter Single submitter candidiasis, familial, 9
- p.Glu114Gly Single submitter candidiasis, familial, 9 ⚠
- p.Glu170Lys Single submitter candidiasis, familial, 9 ⚠
- p.Glu182Lys Single submitter candidiasis, familial, 9 ⚠
- p.Glu184Gly Single submitter candidiasis, familial, 9 ⚠
- p.Glu198Lys Single submitter candidiasis, familial, 9 ⚠
- p.Glu325Asp Single submitter candidiasis, familial, 9 ⚠
- p.Glu357Lys Single submitter candidiasis, familial, 9 ⚠
- p.Glu375Gln Single submitter ⚠
- p.Glu375Lys Single submitter candidiasis, familial, 9 ⚠
- p.Glu433Ala Single submitter candidiasis, familial, 9 ⚠
- p.Glu591Ala Single submitter candidiasis, familial, 9 ⚠
- p.Glu679Asp Single submitter candidiasis, familial, 9 ⚠
- p.Glu682Ala Single submitter candidiasis, familial, 9 ⚠
- p.Glu682Asp Single submitter candidiasis, familial, 9 ⚠
- p.Glu77Asp Single submitter candidiasis, familial, 9 ⚠
- p.Gly107Glu Single submitter candidiasis, familial, 9 ⚠
- p.Gly234Cys Single submitter candidiasis, familial, 9 ⚠
- p.Gly334Asp Single submitter candidiasis, familial, 9 ⚠
- p.Gly335Glu Single submitter candidiasis, familial, 9 ⚠
- p.Gly363Asp Single submitter candidiasis, familial, 9 ⚠
- p.Gly363Ser Single submitter candidiasis, familial, 9 ⚠
- p.Gly402Asp Single submitter candidiasis, familial, 9 ⚠
- p.Gly416Ser Single submitter candidiasis, familial, 9 ⚠
- p.Gly432fs Single submitter candidiasis, familial, 9
- p.Gly442Asp Single submitter ⚠
- p.Gly512Val Single submitter candidiasis, familial, 9 ⚠
- p.Gly51Arg Single submitter candidiasis, familial, 9 ⚠