Sugi Variant

Sugi Variant/CARD9

CARD9 — 595 ClinVar variants

All ClinVar germline CARD9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 23 Conflicting · 20 Benign · 7 Benign/Likely benign · 243 Likely benign · 280 Uncertain significance

Full CARD9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 260

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.

Predictors lean, ClinVar uncertain 153

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 153

Predictors split 103

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

All CARD9 variants

Pathogenic 16

  • p.Gln289Ter Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln295Ter Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp451fs Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln192fs Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln349Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln36Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln405Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln69Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu159Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu194Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu213fs Single submitter Inherited Immunodeficiency Diseases
  • p.Leu256fs Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys334Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser431fs Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser450fs Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr91Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency

Pathogenic/Likely pathogenic 1

  • p.Asp274fs Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency

Likely pathogenic 5

  • c.1078-1G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1357+1G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1358-1G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+1G>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.808-1G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency

Conflicting classifications of pathogenicity 23

  • c.1312-13CT[2] Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1434+1G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1435-6C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.185-5C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.808-8C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.808-9C>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg241Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg364= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg415Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg475Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg522Gln Single submitter Inborn genetic diseases ⚠
  • p.Gln212= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu270Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu320= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.His368= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu136= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu80= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser267= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr420= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr447= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr183= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr4= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr91His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠

Benign 20

  • c.1357+16C>T Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+4C>T Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • c.808-11G>T Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • c.*292T>C Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala290= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln517= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro42= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro99= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser12Asn Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr76= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1269+98T>C Single submitter
  • c.1311+18C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1434+13del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1511+17del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.184+126C>T Single submitter
  • c.627+17dup Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+9_951+10del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.-24A>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp532= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp8= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency

Benign/Likely benign 7

  • c.951+14C>T Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp108= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu221Lys Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly171= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly96= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro461= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr231= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency

Likely benign 243

  • c.951+9_951+17delinsA Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala170Thr Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala298= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala408= Multiple submitters Inborn genetic diseases
  • p.Arg309Cys Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu365= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly458Ala Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu421= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu482= Multiple submitters Inborn genetic diseases
  • p.Phe325= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser2= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1077+10C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1077+11G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1077+15G>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1077+17G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1077+17G>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1077+20G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1077+20G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1078-15G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1078-18C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1078-5G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1078-6C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1078-7C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1269+10G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1269+17C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1269+19G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1269+7C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1269+8T>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1270-10A>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1270-16T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1270-5C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1311+11C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1311+16G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1311+20G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1312-13C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1312-20A>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1312-7T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1312-9C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1357+13C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1357+18G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1358-18C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1358-19G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1358-5dup Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1358-8C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1434+10C>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1434+13C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1434+14G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1434+17G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1435-20G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1435-27_1435-20del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1511+13C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1511+19G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1511+7G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1512-12C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1512-15C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1512-18A>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1512-20T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1512-9T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.184+14C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.184+15dup Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.184+15G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.184+16C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.184+17G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.184+18G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.185-11C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.185-11C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.185-13C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.185-16C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.185-4G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.185-7C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+10G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+11G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+15A>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+16G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+17G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+18C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+19G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.322+20_322+37del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.323-11C>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.323-13G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.323-15T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.323-18C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.323-20G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+11T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+13C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+13C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+17C>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+17C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+17C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+19G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+8C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+9G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.628-10C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.628-15C>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.628-4G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+10T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+10T>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+12G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+7C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+8C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+8C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.807+9G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.808-10C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.808-20T>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.808-9C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+10_951+17del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+15G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+15G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+15G>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+20G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+4G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.951+9G>A Single submitter
  • c.952-11G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.952-12C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.952-7C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.-82C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala109= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala135= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala170= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala190= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala198= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala220= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala331= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala360= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala380= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala392= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala404= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala78= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg101= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg163= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg173= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg18= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg292= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg475Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg492= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg493= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg522= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asn299= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asn530= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asn6= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp222= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp26= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp286= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp379= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp426= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp429= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp43= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp451= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp66= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asp7= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Cys402Arg Single submitter Inborn genetic diseases
  • p.Gln207= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln258= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln262= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln289= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln405= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln463= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln470= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gln512= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu146= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu167= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu180= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu227= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu284= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu285= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu296= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu323= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu326= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu419= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu445= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu45= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu5= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu500= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly197= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly389= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly453= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly458= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly459= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly535= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly72= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.His157= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.His236= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.His371= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ile144= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ile25= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ile343= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu118= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu119= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu153= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu175= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu189= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu232= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu250= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu273= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu291= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu327= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu367= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu427= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu440= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu468= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu474= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys128= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys129= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys156= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys165= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys214= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys272= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys306= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys383= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys391= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys510= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Phe465= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Phe79= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro32= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro432= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro487= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro488= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro52= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro88= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser110= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser12= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser138= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser425= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser484= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser50= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ser82= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr121= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr134= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr20= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr363= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr526= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr531= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr71= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Thr95= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr279= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr86= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Val13= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Val130= Single submitter
  • p.Val353= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Val385Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Val39= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Val409= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Val94= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency

Uncertain significance 280

  • c.-126C>A Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala109Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala190Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala198Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala199Val Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala290Val Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala362Val Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala369Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala372Thr Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala392Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg148Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg160His Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg173Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg241Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg29His Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg305His Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg315His Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg315Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg333His Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg357Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg386Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg475Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg494His Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg503Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn524Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp184Asn Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp451Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp521Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Glu221Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu249Lys Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu253Gln Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu284Ala Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu326Gln Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu326Lys Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu344Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu365Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu489Lys Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu523Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Gly171Ser Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly374Asp Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly453Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly457Ser Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly514Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His294Gln Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.His368Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His469Tyr Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.His478Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His478Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ile107= Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ile355Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile361Val Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu413Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu444Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro432Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro461Leu Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Pro99Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser138Arg Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser172Asn Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser336Phe Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Thr420Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr183Cys Multiple submitters predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Tyr4His Multiple submitters Inborn genetic diseases ⚠
  • c.1077+6C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1270-35_1270-5dup Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1357+5G>C Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.1511+5G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.627+5G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.628-5T>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.-113C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.-119C>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.-166G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.-73C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.*130G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.*139G>A Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.*244T>G Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • c.*57C>T Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ala100Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala109Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala135Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala259Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala259Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala290Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala331Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala354Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala380Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala380Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala380Val Single submitter Inborn genetic diseases ⚠
  • p.Ala404Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala480Glu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala480Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ala507Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg101His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg148Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg155Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg155His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg160Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg173His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg177Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg177His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg188Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg202Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg202Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg204Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg228His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg228Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg260Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg260Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg288Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg292Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg292Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg29Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg314Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg315Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg317Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg342Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg364Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg364Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg364Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg373Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg373Pro Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg373Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg382Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg382His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg412Gly Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg415Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg504del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Arg506His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg509Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg509Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg516Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg57His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Arg70Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asn299Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asn530del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Asn53Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asn6Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp141Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp141His Single submitter Inborn genetic diseases ⚠
  • p.Asp151Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp222Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp223Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp274Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp274Glu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp3Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp426Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp426Gly Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp446Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp479Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp479Glu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp479Tyr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp521Ala Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp521Glu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp521His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Asp7Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Cys178Arg Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Cys454Tyr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gln192Arg Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gln192Glu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gln398His Single submitter Inborn genetic diseases ⚠
  • p.Gln417Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gln442Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln463His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gln517His Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu146Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu159Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu169Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu174Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu180Gly Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu194Asp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu195Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu239Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu253del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu296Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu352del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu366Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu387Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu410Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu437Val Single submitter Inborn genetic diseases ⚠
  • p.Glu445Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu486Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu497Ala Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu497Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu500Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu520del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Glu523Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu534Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu5Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu9Lys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Glu9Val Single submitter Inborn genetic diseases ⚠
  • p.Gly111Glu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly16Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly197Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly311= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Gly458Val Single submitter Inborn genetic diseases ⚠
  • p.Gly481Arg Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly485Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly514Ala Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly518Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly518Trp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly518Val Single submitter Inborn genetic diseases ⚠
  • p.Gly72Asp Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly72Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly72Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Gly75Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.His236Asp Single submitter Inborn genetic diseases ⚠
  • p.His469Gln Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.His478= Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Ile144Phe Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ile144Val Single submitter Inborn genetic diseases ⚠
  • p.Ile25Met Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ile343Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu119Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu185Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu246Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu283Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu308del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Leu395Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu474Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu80Arg Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Leu85Phe Single submitter Inborn genetic diseases ⚠
  • p.Lys196Glu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Lys229Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Lys254Ala Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys322del Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Lys378Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Lys452Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Lys97Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met105Ile Single submitter Inborn genetic diseases ⚠
  • p.Met105Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met124Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met124Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met124Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met187Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met187Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met187Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met1Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Met201Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met201Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Met238Val Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Phe17Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Phe465Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Pro27Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Pro42Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Pro464Arg Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Pro464Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Pro487Arg Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Pro488Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro99Thr Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser139Phe Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser152Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser193Asn Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser23Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser243Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser2Leu Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser439Ala Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser439Pro Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser498Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Ser498Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr20Met Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Thr363Met Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Thr525Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Thr526Ala Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Thr526Arg Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Thr531Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Thr533Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Trp287Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Trp287Ser Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Trp515Ter Single submitter predisposition to invasive fungal disease due to CARD9 deficiency
  • p.Tyr86Cys Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Val123Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Val13Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Val161Leu Single submitter Inborn genetic diseases ⚠
  • p.Val161Met Single submitter Inborn genetic diseases ⚠
  • p.Val24Gly Single submitter Inborn genetic diseases ⚠
  • p.Val261Met Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Val268Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Val409Met Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Val422Ile Single submitter predisposition to invasive fungal disease due to CARD9 deficiency ⚠
  • p.Val55Ile Single submitter Inborn genetic diseases ⚠
  • p.Arg18Gln No assertion criteria ⚠