MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1734
Name:CANDIDIASIS, FAMILIAL, 2
Definition:
Alternative IDs:DO:DOID:2058
ParentIDs:MESH:D002178
TreeNumbers:C01.539.800.200.100/212050 |C01.703.160.165/212050 |C01.703.295.165/212050 |C17.800.838.208.165/212050
Synonyms:CANDF2 |CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE |CARD9 IMMUNODEFICIENCY
Slim Mappings:Bacterial infection or mycosis|Skin disease
Reference: MedGen: 212050
MeSH: 212050
OMIM: 212050;
MSeqDR LSDB:  
Genes: CARD9; TNNC1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001871Abnormality of blood and blood-forming tissues
NAMDC:  Hematopoetic
3 HP:0001597Abnormality of the nail
4 HP:0009098Chronic oral candidiasis
5 HP:0002721Immunodeficiency
6 HP:0001287MeningitisHP:0040283
7 HP:0012203Onychomycosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_052813.5(CARD9):c.*292T>C64170CARD9Benignrs1135314RCV000331427; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258462139258462AG9:g.139258462A>GClinGen:CA5332533CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.*246C>G64170CARD9Likely benignrs570507065RCV001168427; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258508139258508GC9:g.139258508G>C-
NM_052813.5(CARD9):c.*244T>G64170CARD9Uncertain significancers373574599RCV000385916; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258510139258510AC9:g.139258510A>CClinGen:CA5332541CN239217 Familial Candidiasis, Recessive;
NC_000009.12:g.(?_136364105)_(136372098_?)del64170CARD9Pathogenic-1RCV000644018; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258557139266550nana-C1859353 212050 Candidiasis, familial, 2;
NC_000009.11:g.(?_139258557)_(139266550_?)dup64170CARD9Uncertain significance-1RCV001305749; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258557139266550nana-1-
NC_000009.11:g.(?_139258557)_(140003427_?)del64170CARD9Pathogenic-1RCV001380370; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258557140003427nana-1-
NM_052813.5(CARD9):c.*139G>A64170CARD9Uncertain significancers564615796RCV000291596; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258615139258615CT9:g.139258615C>TClinGen:CA5332551CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.*130G>A64170CARD9Uncertain significancers545913331RCV000347008; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258624139258624CT9:g.139258624C>TClinGen:CA5332554CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.*57C>T64170CARD9Uncertain significancers1345187433RCV001168428; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258697139258697GA9:g.139258697G>A-
NM_052813.5(CARD9):c.1609T>C (p.Ter537Gln)64170CARD9Uncertain significancers1405807688RCV000779577; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258756139258756AGNC_000009.11:g.139258756A>G-
NM_052813.5(CARD9):c.1596C>T (p.Asp532=)64170CARD9Benignrs151057624RCV000546086; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258769139258769GA9:g.139258769G>AClinGen:CA5332571C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1586ACA[1] (p.Asn530del)64170CARD9Uncertain significancers1833060032RCV001043259; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258774139258776GTGTG9:g.139258774_139258776del-
NM_052813.5(CARD9):c.1578G>A (p.Thr526=)64170CARD9Likely benignrs765707859RCV000982623|RCV001504233; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258787139258787CT9:g.139258787C>T-
NM_052813.5(CARD9):c.1577C>G (p.Thr526Arg)64170CARD9Uncertain significance-1RCV001965833; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258788139258788GC139258788-
NM_052813.5(CARD9):c.1576A>G (p.Thr526Ala)64170CARD9Uncertain significance-1RCV002027145; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258789139258789TC139258789-
NM_052813.5(CARD9):c.1574C>T (p.Thr525Ile)64170CARD9Uncertain significancers1425733902RCV001253957; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258791139258791GA9:g.139258791G>A-
NM_052813.5(CARD9):c.1571A>C (p.Asn524Thr)64170CARD9Uncertain significancers141310444RCV000644003; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258794139258794TG9:g.139258794T>GClinGen:CA5332575C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1567G>C (p.Glu523Gln)64170CARD9Uncertain significancers144943839RCV000801137; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258798139258798CG9:g.139258798C>G-
NM_052813.5(CARD9):c.1565G>A (p.Arg522Gln)64170CARD9Uncertain significancers745730969RCV001339894; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258800139258800CT139258800-
NM_052813.5(CARD9):c.1563C>G (p.Asp521Glu)64170CARD9Uncertain significance-1RCV002011427; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258802139258802GC139258802-
NM_052813.5(CARD9):c.1562A>C (p.Asp521Ala)64170CARD9Uncertain significance-1RCV002029778; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258803139258803TG139258803-
NM_052813.5(CARD9):c.1554GGA[2] (p.Glu520del)64170CARD9Uncertain significance-1RCV002014897; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258803139258805GTCCG139258802-
NM_052813.5(CARD9):c.1552G>T (p.Gly518Trp)64170CARD9Uncertain significancers888151831RCV001337401; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258813139258813CA139258813-
NM_052813.5(CARD9):c.1551G>A (p.Gln517=)64170CARD9Benignrs77469895RCV000880963; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258814139258814CT9:g.139258814C>T-
NM_052813.5(CARD9):c.1546C>T (p.Arg516Trp)64170CARD9Uncertain significancers773889930RCV001063970; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258819139258819GA9:g.139258819G>A-
NM_052813.5(CARD9):c.1545G>A (p.Trp515Ter)64170CARD9Uncertain significance-1RCV002049893; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258820139258820CT139258820-
NM_052813.5(CARD9):c.1541G>C (p.Gly514Ala)64170CARD9Uncertain significancers1036710533RCV001313963; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258824139258824CG139258824-
NM_052813.5(CARD9):c.1540G>A (p.Gly514Arg)64170CARD9Uncertain significance-1RCV001940951; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258825139258825CT139258825-
NM_052813.5(CARD9):c.1536G>A (p.Gln512=)64170CARD9Likely benign-1RCV002190201; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258829139258829CT139258829-
NM_052813.5(CARD9):c.1520C>T (p.Ala507Val)64170CARD9Uncertain significance-1RCV002009771; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258845139258845GA139258845-
NM_052813.5(CARD9):c.1517G>A (p.Arg506His)64170CARD9Uncertain significance-1RCV001949068; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258848139258848CT139258848-
NM_052813.5(CARD9):c.1512-18A>G64170CARD9Likely benign-1RCV002118339; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258871139258871TC139258871-
NM_052813.5(CARD9):c.1512-20T>C64170CARD9Likely benign-1RCV002100205; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258873139258873AG139258873-
NM_052813.5(CARD9):c.1511+19G>A64170CARD9Likely benign-1RCV002157212; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258916139258916CT139258916-
NM_052813.5(CARD9):c.1511+7G>A64170CARD9Likely benign-1RCV001457177; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258928139258928CT139258928-
NM_052813.5(CARD9):c.1507_1509del (p.Arg504del)64170CARD9Uncertain significancers758002574RCV001235490; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258937139258939TGCGT9:g.139258937_139258939del-
NM_052813.5(CARD9):c.1500G>A (p.Glu500=)64170CARD9Likely benign-1RCV001475338; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258946139258946CT139258946-
NM_052813.5(CARD9):c.1492A>T (p.Ser498Cys)64170CARD9Uncertain significancers974044165RCV001303837; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258954139258954TA139258954-
NM_052813.5(CARD9):c.1489G>A (p.Glu497Lys)64170CARD9Uncertain significance-1RCV002030128; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258957139258957CT139258957-
NM_052813.5(CARD9):c.1481G>A (p.Arg494His)64170CARD9Uncertain significancers149308743RCV001253958; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258965139258965CT9:g.139258965C>T-
NM_052813.5(CARD9):c.1479G>A (p.Arg493=)64170CARD9Likely benignrs368839062RCV000644015; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258967139258967CT9:g.139258967C>TClinGen:CA5332613C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1465G>A (p.Glu489Lys)64170CARD9Uncertain significance-1RCV001971817; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258981139258981CT139258981-
NM_052813.5(CARD9):c.1464C>A (p.Pro488=)64170CARD9Likely benign-1RCV001938988; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258982139258982GT139258982-
NM_052813.5(CARD9):c.1452C>T (p.Ser484=)64170CARD9Likely benignrs758540382RCV000644009; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139258994139258994GA9:g.139258994G>AClinGen:CA467716728C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1446G>C (p.Leu482=)64170CARD9Likely benign-1RCV002187838; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259000139259000CG139259000-
NM_052813.5(CARD9):c.1437C>A (p.Asp479Glu)64170CARD9Uncertain significancers1406534280RCV001208585; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259009139259009GT9:g.139259009G>T-
NM_052813.5(CARD9):c.1435G>A (p.Asp479Asn)64170CARD9Uncertain significance-1RCV001881797; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259011139259011CT139259011-
NM_052813.5(CARD9):c.1435-27_1435-20del64170CARD9Likely benign-1RCV002205938; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259031139259038TCGGGCTCCT139259030-
NM_052813.5(CARD9):c.1434+14G>A64170CARD9Uncertain significance-1RCV002003639; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259579139259579CT139259579-
NM_052813.5(CARD9):c.1434+13C>T64170CARD9Likely benign-1RCV002186464; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259580139259580GA139259580-
NM_052813.5(CARD9):c.1434+1G>C64170CARD9Conflicting interpretations of pathogenicityrs141992399RCV001027776|RCV001092462; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN5172029139259592139259592CG9:g.139259592C>GClinGen:CA500026C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1434T>C (p.His478=)64170CARD9Uncertain significance-1RCV001363256; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259593139259593AG139259593-
NM_052813.5(CARD9):c.1433A>G (p.His478Arg)64170CARD9Uncertain significancers1588719771RCV000818941; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259594139259594TC9:g.139259594T>C-
NM_052813.5(CARD9):c.1432C>G (p.His478Asp)64170CARD9Uncertain significance-1RCV001922071; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259595139259595GC139259595-
NM_052813.5(CARD9):c.1424G>T (p.Arg475Leu)64170CARD9Uncertain significancers374115294RCV001321087; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259603139259603CA139259603-
NM_052813.5(CARD9):c.1424G>A (p.Arg475Gln)64170CARD9Uncertain significance-1RCV001944942; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259603139259603CT139259603-
NM_052813.5(CARD9):c.1423C>T (p.Arg475Trp)64170CARD9Likely benign-1RCV001453055; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259604139259604GA139259604-
NM_052813.5(CARD9):c.1421T>C (p.Leu474Ser)64170CARD9Uncertain significancers1833090922RCV001339316; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259606139259606AG139259606-
NM_052813.5(CARD9):c.1407C>A (p.His469Gln)64170CARD9Uncertain significancers1588719803RCV001215537; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259620139259620GT9:g.139259620G>T-
NM_052813.5(CARD9):c.1405C>T (p.His469Tyr)64170CARD9Uncertain significancers770567400RCV001064933; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259622139259622GA9:g.139259622G>A-
NM_052813.5(CARD9):c.1395T>C (p.Phe465=)64170CARD9Likely benign-1RCV002144960; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259632139259632AG139259632-
NM_052813.5(CARD9):c.1393T>C (p.Phe465Leu)64170CARD9Uncertain significancers373635926RCV000644002; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259634139259634AGNC_000009.11:g.139259634A>GClinGen:CA5332649C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1391C>T (p.Pro464Leu)64170CARD9Uncertain significance-1RCV001372907; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259636139259636GA139259636-
NM_052813.5(CARD9):c.1389G>A (p.Gln463=)64170CARD9Likely benign-1RCV001476112; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259638139259638CT139259638-
NM_052813.5(CARD9):c.1383G>A (p.Pro461=)64170CARD9Benign/Likely benignrs138344913RCV000644004; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259644139259644CTNC_000009.11:g.139259644C>TClinGen:CA5332652C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1382C>T (p.Pro461Leu)64170CARD9Uncertain significancers774571551RCV000643999; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259645139259645GANC_000009.11:g.139259645G>AClinGen:CA5332654C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1377G>A (p.Gly459=)64170CARD9Likely benign-1RCV001503453; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259650139259650CT139259650-
NM_052813.5(CARD9):c.1374G>C (p.Gly458=)64170CARD9Likely benign-1RCV001488600; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259653139259653CG139259653-
NM_052813.5(CARD9):c.1373G>C (p.Gly458Ala)64170CARD9Likely benignrs144348041RCV000910713; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259654139259654CG9:g.139259654C>G-
NM_052813.5(CARD9):c.1369G>A (p.Gly457Ser)64170CARD9Uncertain significancers756953515RCV001053265; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259658139259658CT9:g.139259658C>T-
NM_052813.5(CARD9):c.1361G>A (p.Cys454Tyr)64170CARD9Uncertain significancers200189320RCV001321333; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259666139259666CT139259666-
NM_052813.5(CARD9):c.1359C>A (p.Gly453=)64170CARD9Likely benignrs1489024588RCV000644016; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259668139259668GT9:g.139259668G>TClinGen:CA467716917C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1358G>A (p.Gly453Asp)64170CARD9Uncertain significancers745340091RCV001295782; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259669139259669CT139259669-
NM_052813.5(CARD9):c.1358-5dup64170CARD9Likely benign-1RCV002079094; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259673139259674GGA139259673-
NM_052813.5(CARD9):c.1358-19G>A64170CARD9Likely benign-1RCV001436408; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139259688139259688CT139259688-
NM_052813.5(CARD9):c.1357+16C>T64170CARD9Benign-1RCV001510165; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261236139261236GA139261236-
NM_052813.5(CARD9):c.1355A>T (p.Lys452Ile)64170CARD9Uncertain significance-1RCV001870158; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261254139261254TA139261254-
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs)64170CARD9Pathogenicrs746470735RCV000697296; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261255139261258TTGTCTNC_000009.11:g.139261257_139261260del-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1351G>A (p.Asp451Asn)64170CARD9Uncertain significancers1411071075RCV001238490; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261258139261258CT9:g.139261258C>T-
NM_052813.5(CARD9):c.1341C>T (p.Thr447=)64170CARD9Conflicting interpretations of pathogenicityrs774391206RCV000788932|RCV001078650; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261268139261268GA9:g.139261268G>A-
NM_052813.5(CARD9):c.1335G>A (p.Glu445=)64170CARD9Likely benign-1RCV001420096; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261274139261274CT139261274-
NM_052813.5(CARD9):c.1333G>A (p.Glu445Lys)64170CARD9Uncertain significancers767361965RCV001326569; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261276139261276CT139261276-
NM_052813.5(CARD9):c.1330C>G (p.Leu444Val)64170CARD9Uncertain significancers750049509RCV000398422; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261279139261279GCNC_000009.11:g.139261279G>CClinGen:CA5332701CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1312-13CT[2]64170CARD9Conflicting interpretations of pathogenicityrs770532797RCV000644013; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261305139261306AAGANC_000009.11:g.139261305AG[2]ClinGen:CA5332705C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1311+18C>T64170CARD9Benign-1RCV002120713; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261650139261650GA139261650-
NM_052813.5(CARD9):c.1294C>T (p.Pro432Ser)64170CARD9Uncertain significance-1RCV001950583; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261685139261685GA139261685-
NM_052813.5(CARD9):c.1289dup (p.Ser431fs)64170CARD9Pathogenicrs1564367364RCV000687133; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261689139261690GGC9:g.139261689_139261690insC-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1278C>T (p.Asp426=)64170CARD9Likely benign-1RCV002183401; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261701139261701GA139261701-
NM_052813.5(CARD9):c.1277A>G (p.Asp426Gly)64170CARD9Uncertain significancers760553828RCV000810181; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261702139261702TC9:g.139261702T>C-
NM_052813.5(CARD9):c.1276G>A (p.Asp426Asn)64170CARD9Uncertain significancers770587024RCV001216375; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261703139261703CT9:g.139261703C>T-
NM_052813.5(CARD9):c.1275C>T (p.Ser425=)64170CARD9Likely benign-1RCV001477759; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261704139261704GA139261704-
NM_052813.5(CARD9):c.1270-35_1270-5dup64170CARD9Uncertain significancers1833145908RCV001295819; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139261713139261714TTGGTCATAGAAAATGGGGTGGGTGGGCTGTGA139261713-
NM_052813.5(CARD9):c.1264G>A (p.Val422Ile)64170CARD9Uncertain significancers374295826RCV001303338; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262094139262094CT139262094-
NM_052813.5(CARD9):c.1263C>T (p.Leu421=)64170CARD9Likely benign-1RCV001476848; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262095139262095GA139262095-
NM_052813.5(CARD9):c.1260G>A (p.Thr420=)64170CARD9Conflicting interpretations of pathogenicityrs142757984RCV000303645|RCV000644007; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN5172029139262098139262098CTNC_000009.11:g.139262098C>TClinGen:CA5332782C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1259C>T (p.Thr420Met)64170CARD9Uncertain significance-1RCV001919834; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262099139262099GA139262099-
NM_052813.5(CARD9):c.1257G>A (p.Glu419=)64170CARD9Likely benignrs1291912498RCV000941521|RCV001454272; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262101139262101CT9:g.139262101C>T-
NM_052813.5(CARD9):c.1244G>A (p.Arg415Gln)64170CARD9Uncertain significancers147340708RCV001038901; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262114139262114CT9:g.139262114C>T-
NM_052813.5(CARD9):c.1243C>T (p.Arg415Trp)64170CARD9Uncertain significancers754119986RCV001204001; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262115139262115GA9:g.139262115G>A-
NM_052813.5(CARD9):c.1237C>T (p.Leu413Phe)64170CARD9Uncertain significancers752685448RCV001301601; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262121139262121GA139262121-
NM_052813.5(CARD9):c.1225G>A (p.Val409Met)64170CARD9Uncertain significancers368200571RCV001047731; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262133139262133CT9:g.139262133C>T-
NM_052813.5(CARD9):c.1215G>A (p.Gln405=)64170CARD9Likely benignrs139454076RCV000956762; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262143139262143CT9:g.139262143C>T-
NM_052813.5(CARD9):c.1212G>A (p.Ala404=)64170CARD9Likely benign-1RCV001465350; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262146139262146CT139262146-
NM_052813.5(CARD9):c.1183C>G (p.Leu395Val)64170CARD9Uncertain significancers747645575RCV001309118; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262175139262175GC139262175-
NM_052813.5(CARD9):c.1176G>A (p.Ala392=)64170CARD9Likely benign-1RCV002079065; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262182139262182CT139262182-
NM_052813.5(CARD9):c.1175C>T (p.Ala392Val)64170CARD9Uncertain significancers567395579RCV000339870; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262183139262183GANC_000009.11:g.139262183G>AClinGen:CA5332802CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1167C>T (p.Gly389=)64170CARD9Uncertain significancers759838683RCV001233799; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262191139262191GA9:g.139262191G>A-
NM_052813.5(CARD9):c.1157G>A (p.Arg386Gln)64170CARD9Uncertain significance-1RCV001941008; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262201139262201CT139262201-
NM_052813.5(CARD9):c.1153G>C (p.Val385Leu)64170CARD9Benign/Likely benignrs3124993RCV000531324; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262205139262205CGNC_000009.11:g.139262205C>GClinGen:CA5332808C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1153G>T (p.Val385Leu)64170CARD9Likely benign-1RCV002092661; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262205139262205CA139262205-
NM_052813.5(CARD9):c.1138G>A (p.Ala380Thr)64170CARD9Uncertain significance-1RCV001933559; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262220139262220CT139262220-
NM_052813.5(CARD9):c.1137C>T (p.Asp379=)64170CARD9Likely benign-1RCV002205051; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262221139262221GA139262221-
NM_052813.5(CARD9):c.1121G>A (p.Gly374Asp)64170CARD9Uncertain significancers777420944RCV000703613; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262237139262237CTNC_000009.11:g.139262237C>T-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro)64170CARD9Pathogenicrs149712114RCV000074439; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262240139262240CG9:g.139262240C>GClinGen:CA145370,UniProtKB:Q9H257#VAR_070830,OMIM:607212.0003C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1118G>A (p.Arg373Gln)64170CARD9Uncertain significancers149712114RCV001061631; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262240139262240CT9:g.139262240C>T-
NM_052813.5(CARD9):c.1117C>T (p.Arg373Trp)64170CARD9Uncertain significance-1RCV001950509; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262241139262241GA139262241-
NM_052813.5(CARD9):c.1114G>A (p.Ala372Thr)64170CARD9Uncertain significancers145574224RCV000693975; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262244139262244CTNC_000009.11:g.139262244C>T-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1105G>A (p.Ala369Thr)64170CARD9Uncertain significancers141270365RCV000824420; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262253139262253CT9:g.139262253C>T-
NM_052813.5(CARD9):c.1104C>T (p.His368=)64170CARD9Conflicting interpretations of pathogenicityrs145052557RCV000298142; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262254139262254GANC_000009.11:g.139262254G>AClinGen:CA5332829CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1104C>A (p.His368Gln)64170CARD9Uncertain significancers145052557RCV001233024; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262254139262254GT9:g.139262254G>T-
NM_052813.5(CARD9):c.1096G>A (p.Glu366Lys)64170CARD9Uncertain significancers146829177RCV000552494; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262262139262262CT9:g.139262262C>TClinGen:CA201611565C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1094A>G (p.Glu365Gly)64170CARD9Uncertain significancers533844645RCV001233808; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262264139262264TC9:g.139262264T>C-
NM_052813.5(CARD9):c.1091G>A (p.Arg364Gln)64170CARD9Uncertain significancers778706578RCV001166246; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262267139262267CT9:g.139262267C>T-
NM_052813.5(CARD9):c.1090C>A (p.Arg364=)64170CARD9Conflicting interpretations of pathogenicityrs151211588RCV000352984|RCV000977089; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN5172029139262268139262268GTNC_000009.11:g.139262268G>TClinGen:CA5332833CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1090C>T (p.Arg364Trp)64170CARD9Uncertain significancers151211588RCV000818698; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262268139262268GA9:g.139262268G>A-
NM_052813.5(CARD9):c.1089G>A (p.Thr363=)64170CARD9Likely benign-1RCV001463069; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262269139262269CT139262269-
NM_052813.5(CARD9):c.1081A>G (p.Ile361Val)64170CARD9Uncertain significancers1338999078RCV001212993; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262277139262277TC9:g.139262277T>C-
NM_052813.5(CARD9):c.1078-1G>A64170CARD9Likely pathogenic-1RCV002015707; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262281139262281CT139262281-
NM_052813.5(CARD9):c.1078-6C>T64170CARD9Likely benign-1RCV001417482; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139262286139262286GA139262286-
NM_052813.5(CARD9):c.1077+6C>T64170CARD9Uncertain significance-1RCV002047918; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264196139264196GA139264196-
NM_052813.5(CARD9):c.1060G>A (p.Ala354Thr)64170CARD9Uncertain significancers766983144RCV001058380; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264219139264219CT9:g.139264219C>T-
NM_052813.5(CARD9):c.1059C>T (p.Val353=)64170CARD9Likely benign-1RCV002130186; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264220139264220GA139264220-
NM_052813.5(CARD9):c.1052AGG[1] (p.Glu352del)64170CARD9Uncertain significance-1RCV002013188; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264222139264224ACCTA139264221-
NM_052813.5(CARD9):c.1045C>T (p.Gln349Ter)64170CARD9Pathogenic-1RCV002037820; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264234139264234GA139264234-
NM_052813.5(CARD9):c.1031A>G (p.Glu344Gly)64170CARD9Uncertain significancers748158820RCV001209386; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264248139264248TC9:g.139264248T>C-
NM_052813.5(CARD9):c.1029C>T (p.Ile343=)64170CARD9Likely benignrs966910034RCV000944158|RCV001481005; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264250139264250GA9:g.139264250G>A-
NM_052813.5(CARD9):c.1027A>G (p.Ile343Val)64170CARD9Uncertain significance-1RCV001920391; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264252139264252TC139264252-
NM_052813.5(CARD9):c.1024C>T (p.Arg342Cys)64170CARD9Uncertain significance-1RCV002012953; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264255139264255GA139264255-
NM_052813.5(CARD9):c.1007C>T (p.Ser336Phe)64170CARD9Uncertain significancers189645633RCV000702567; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264272139264272GANC_000009.11:g.139264272G>A-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.998G>A (p.Arg333His)64170CARD9Uncertain significancers200783121RCV001059496; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264281139264281CT9:g.139264281C>T-
NM_052813.5(CARD9):c.979C>T (p.Leu327=)64170CARD9Likely benign-1RCV002102587; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264300139264300GA139264300-
NM_052813.5(CARD9):c.976G>A (p.Glu326Lys)64170CARD9Uncertain significancers143669690RCV000276851; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264303139264303CTNC_000009.11:g.139264303C>TClinGen:CA5332885CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.976G>C (p.Glu326Gln)64170CARD9Uncertain significancers143669690RCV000643998; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264303139264303CGNC_000009.11:g.139264303C>GClinGen:CA5332884C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.975C>T (p.Phe325=)64170CARD9Likely benign-1RCV001453820; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264304139264304GA139264304-
NM_052813.5(CARD9):c.960G>A (p.Glu320=)64170CARD9Conflicting interpretations of pathogenicityrs148158774RCV000644005; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264319139264319CT9:g.139264319C>TClinGen:CA5332896C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.952-11G>A64170CARD9Likely benign-1RCV002183920; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264338139264338CT139264338-
NM_052813.5(CARD9):c.952-12C>T64170CARD9Likely benign-1RCV002155035; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264339139264339GA139264339-
NM_052813.5(CARD9):c.951+10_951+17del64170CARD9Likely benignrs147386417RCV000537540; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264729139264736CCCCGCCTGC9:g.139264729_139264736delClinGen:CA201613730C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.951+14C>T64170CARD9Benign/Likely benignrs574158361RCV001166766; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264732139264732GA9:g.139264732G>A-
NM_052813.5(CARD9):c.951+9_951+10del64170CARD9Benignrs754404646RCV000644010; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264736139264737TGCT9:g.139264736_139264737delClinGen:CA5332922C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.951+9G>A64170CARD9Likely benignrs924360777RCV000974757; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264737139264737CT9:g.139264737C>T-
NM_052813.5(CARD9):c.951+4G>A64170CARD9Likely benignrs757527643RCV000547730; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264742139264742CT9:g.139264742C>TClinGen:CA5332925C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.944G>T (p.Arg315Leu)64170CARD9Uncertain significance-1RCV001360106; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264753139264753CA139264753-
NM_052813.5(CARD9):c.944G>A (p.Arg315His)64170CARD9Uncertain significance-1RCV001918043; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264753139264753CT139264753-
NM_052813.5(CARD9):c.943C>T (p.Arg315Cys)64170CARD9Uncertain significance-1RCV001965302; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264754139264754GA139264754-
NM_052813.5(CARD9):c.941G>A (p.Arg314Gln)64170CARD9Uncertain significancers747970437RCV001351951; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264756139264756CT139264756-
NM_052813.5(CARD9):c.925C>T (p.Arg309Cys)64170CARD9Likely benignrs535051926RCV000920084|RCV001166767; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264772139264772GA9:g.139264772G>A-
NM_052813.5(CARD9):c.923_925del (p.Leu308del)64170CARD9Uncertain significancers1833230862RCV001057073; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264772139264774CGGAC9:g.139264772_139264774del-
NM_052813.5(CARD9):c.918G>A (p.Lys306=)64170CARD9Uncertain significancers1158158279RCV001227013; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264779139264779CT9:g.139264779C>T-
NM_052813.5(CARD9):c.914G>A (p.Arg305His)64170CARD9Uncertain significancers150234370RCV001064665; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264783139264783CTNC_000009.11:g.139264783C>TClinGen:CA5332936CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.897C>T (p.Asn299=)64170CARD9Likely benign-1RCV001485781; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264800139264800GA139264800-
NM_052813.5(CARD9):c.896A>G (p.Asn299Ser)64170CARD9Uncertain significance-1RCV001996826; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264801139264801TC139264801-
NM_052813.5(CARD9):c.894C>G (p.Ala298=)64170CARD9Likely benign-1RCV002117259; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264803139264803GC139264803-
NM_052813.5(CARD9):c.883C>T (p.Gln295Ter)64170CARD9Pathogenicrs121918338RCV000003575; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264814139264814GA9:g.139264814G>AClinGen:CA116192,OMIM:607212.0001C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.882C>G (p.His294Gln)64170CARD9Uncertain significancers756275149RCV001308123; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264815139264815GC139264815-
NM_052813.5(CARD9):c.875G>T (p.Arg292Leu)64170CARD9Uncertain significancers143263677RCV001304528; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264822139264822CA139264822-
NM_052813.5(CARD9):c.870G>A (p.Ala290=)64170CARD9Benignrs115057256RCV000527218; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264827139264827CTNC_000009.11:g.139264827C>TClinGen:CA5332948C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.869C>T (p.Ala290Val)64170CARD9Uncertain significancers1442047796RCV001166768; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264828139264828GA9:g.139264828G>A-
NM_052813.5(CARD9):c.868G>T (p.Ala290Ser)64170CARD9Uncertain significancers964199466RCV000817741; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264829139264829CA9:g.139264829C>A-
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter)64170CARD9Pathogenicrs398122363RCV000074440; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264832139264832GA9:g.139264832G>AClinGen:CA145372,OMIM:607212.0004C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.862C>T (p.Arg288Trp)64170CARD9Uncertain significancers770668488RCV001242861; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264835139264835GA9:g.139264835G>A-
NM_052813.5(CARD9):c.861G>T (p.Trp287Cys)64170CARD9Uncertain significancers776265820RCV000799975; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264836139264836CA9:g.139264836C>A-
NM_052813.5(CARD9):c.855G>A (p.Glu285=)64170CARD9Likely benign-1RCV002192319; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264842139264842CT139264842-
NM_052813.5(CARD9):c.851A>C (p.Glu284Ala)64170CARD9Uncertain significancers138048592RCV000644000; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264846139264846TGNC_000009.11:g.139264846T>GClinGen:CA5332955C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.847C>G (p.Leu283Val)64170CARD9Uncertain significancers1833234296RCV001207295; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264850139264850GC9:g.139264850G>C-
NM_052813.5(CARD9):c.837C>T (p.Tyr279=)64170CARD9Likely benign-1RCV002082702; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264860139264860GA139264860-
NM_052813.5(CARD9):c.822C>G (p.Asp274Glu)64170CARD9Uncertain significance-1RCV002036131; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264875139264875GC139264875-
NM_052813.5(CARD9):c.816G>A (p.Lys272=)64170CARD9Likely benign-1RCV002104176; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264881139264881CT139264881-
NM_052813.5(CARD9):c.809A>T (p.Glu270Val)64170CARD9Conflicting interpretations of pathogenicityrs114895119RCV000548526; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264888139264888TANC_000009.11:g.139264888T>AClinGen:CA5332961C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.808-8C>T64170CARD9Conflicting interpretations of pathogenicityrs542391727RCV001168482; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264897139264897GA9:g.139264897G>A-
NM_052813.5(CARD9):c.808-9C>A64170CARD9Conflicting interpretations of pathogenicityrs200458322RCV000533763; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264898139264898GTNC_000009.11:g.139264898G>TClinGen:CA5332964C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.808-11G>T64170CARD9Benignrs528166226RCV000383225; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264900139264900CANC_000009.11:g.139264900C>AClinGen:CA5332966CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.807+10T>G64170CARD9Likely benign-1RCV002084679; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264964139264964AC139264964-
NM_052813.5(CARD9):c.807+8C>T64170CARD9Likely benignrs372934669RCV000979421; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264966139264966GA9:g.139264966G>A-
NM_052813.5(CARD9):c.807+7C>T64170CARD9Likely benign-1RCV001482368; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264967139264967GA139264967-
NM_052813.5(CARD9):c.801C>T (p.Ser267=)64170CARD9Conflicting interpretations of pathogenicityrs143884319RCV000905906; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264980139264980GANC_000009.11:g.139264980G>AClinGen:CA5332984CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.786G>A (p.Gln262=)64170CARD9Likely benign-1RCV002084513; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139264995139264995CT139264995-
NM_052813.5(CARD9):c.781G>A (p.Val261Met)64170CARD9Uncertain significance-1RCV002047495; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265000139265000CT139265000-
NM_052813.5(CARD9):c.779G>A (p.Arg260Gln)64170CARD9Uncertain significancers781016718RCV000796096; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265002139265002CT9:g.139265002C>T-
NM_052813.5(CARD9):c.778C>T (p.Arg260Trp)64170CARD9Uncertain significancers148681933RCV001071694; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265003139265003GA9:g.139265003G>A-
NM_052813.5(CARD9):c.766del (p.Leu256fs)64170CARD9Pathogenicrs1833240016RCV001037926; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265015139265015AGA9:g.139265015_139265015del-
NM_052813.5(CARD9):c.760_761delinsGC (p.Lys254Ala)64170CARD9Uncertain significancers1833240171RCV001068429; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265020139265021TTGCNC_000009.11:g.139265020_139265021delinsGC-
NM_052813.5(CARD9):c.757G>C (p.Glu253Gln)64170CARD9Uncertain significancers748703154RCV000703638; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265024139265024CGNC_000009.11:g.139265024C>G-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.748C>T (p.Leu250=)64170CARD9Likely benignrs1484042011RCV000943040; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265033139265033GA9:g.139265033G>A-
NM_052813.5(CARD9):c.745G>A (p.Glu249Lys)64170CARD9Uncertain significance-1RCV001966274; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265036139265036CT139265036-
NM_052813.5(CARD9):c.736C>G (p.Leu246Val)64170CARD9Uncertain significance-1RCV002049226; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265045139265045GC139265045-
NM_052813.5(CARD9):c.722G>A (p.Arg241Gln)64170CARD9Uncertain significancers369657798RCV001347946; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265059139265059CT139265059-
NM_052813.5(CARD9):c.721C>T (p.Arg241Trp)64170CARD9Uncertain significancers142221470RCV001058174; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265060139265060GA9:g.139265060G>A-
NM_052813.5(CARD9):c.715G>A (p.Glu239Lys)64170CARD9Uncertain significance-1RCV001909343; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265066139265066CT139265066-
NM_052813.5(CARD9):c.708C>T (p.His236=)64170CARD9Likely benign-1RCV002193033; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265073139265073GA139265073-
NM_052813.5(CARD9):c.694C>T (p.Leu232=)64170CARD9Likely benignrs373198723RCV000917083|RCV001504563; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265087139265087GA9:g.139265087G>A-
NM_052813.5(CARD9):c.693G>A (p.Thr231=)64170CARD9Benign/Likely benignrs59902911RCV000559992; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265088139265088CTNC_000009.11:g.139265088C>TClinGen:CA5333006C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.687G>T (p.Lys229Asn)64170CARD9Uncertain significance-1RCV001870193; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265094139265094CA139265094-
NM_052813.5(CARD9):c.683G>A (p.Arg228His)64170CARD9Uncertain significancers551482416RCV000688329; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265098139265098CTNC_000009.11:g.139265098C>T-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.667G>A (p.Asp223Asn)64170CARD9Uncertain significancers745942827RCV001234255; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265114139265114CT9:g.139265114C>T-
NM_052813.5(CARD9):c.666C>T (p.Asp222=)64170CARD9Likely benign-1RCV002206041; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265115139265115GA139265115-
NM_052813.5(CARD9):c.661G>A (p.Glu221Lys)64170CARD9Benign/Likely benignrs200735402RCV001168483; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265120139265120CT9:g.139265120C>T-
NM_052813.5(CARD9):c.660C>T (p.Ala220=)64170CARD9Likely benign-1RCV002097115; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265121139265121GA139265121-
NM_052813.5(CARD9):c.636G>A (p.Gln212=)64170CARD9Likely benign-1RCV001482373; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265145139265145CT139265145-
NM_052813.5(CARD9):c.628-4G>A64170CARD9Likely benign-1RCV002159727; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265157139265157CT139265157-
NM_052813.5(CARD9):c.628-5T>A64170CARD9Uncertain significancers1833244370RCV001168484; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265158139265158AT9:g.139265158A>T-
NM_052813.5(CARD9):c.628-10C>G64170CARD9Uncertain significancers770028236RCV001307980; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265163139265163GC139265163-
NM_052813.5(CARD9):c.628-15C>A64170CARD9Likely benign-1RCV002155683; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265168139265168GT139265168-
NM_052813.5(CARD9):c.627+17C>T64170CARD9Likely benign-1RCV002088796; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265276139265276GA139265276-
NM_052813.5(CARD9):c.627+9G>A64170CARD9Likely benign-1RCV001415459; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265284139265284CT139265284-
NM_052813.5(CARD9):c.627+8C>T64170CARD9Likely benign-1RCV002109805; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265285139265285GA139265285-
NM_052813.5(CARD9):c.627+5G>A64170CARD9Uncertain significance-1RCV001911350; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265288139265288CT139265288-
NM_052813.5(CARD9):c.627+4C>T64170CARD9Benignrs181987989RCV000967653; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265289139265289GANC_000009.11:g.139265289G>AClinGen:CA5333070CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.610C>T (p.Arg204Cys)64170CARD9Uncertain significance-1RCV001923339; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265310139265310GA139265310-
NM_052813.5(CARD9):c.602T>C (p.Met201Thr)64170CARD9Uncertain significancers1833249736RCV001215538; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265318139265318AG9:g.139265318A>G-
NM_052813.5(CARD9):c.594C>T (p.Ala198=)64170CARD9Likely benign-1RCV001506654; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265326139265326GA139265326-
NM_052813.5(CARD9):c.592G>A (p.Ala198Thr)64170CARD9Uncertain significancers139295959RCV001232252; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265328139265328CT9:g.139265328C>T-
NM_052813.5(CARD9):c.591C>G (p.Gly197=)64170CARD9Likely benign-1RCV002109888; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265329139265329GC139265329-
NM_052813.5(CARD9):c.586A>G (p.Lys196Glu)64170CARD9Uncertain significancers768281299RCV001344243; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265334139265334TC139265334-
NM_052813.5(CARD9):c.583G>C (p.Glu195Gln)64170CARD9Uncertain significancers774113192RCV001306554; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265337139265337CG139265337-
NM_052813.5(CARD9):c.582G>C (p.Glu194Asp)64170CARD9Uncertain significancers761369989RCV000823522; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265338139265338CG9:g.139265338C>G-
NM_052813.5(CARD9):c.579dup (p.Glu194Ter)64170CARD9Pathogenic-1RCV001962015; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265340139265341CCA139265340-
NM_052813.5(CARD9):c.578G>A (p.Ser193Asn)64170CARD9Uncertain significancers144115318RCV001231536; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265342139265342CT9:g.139265342C>T-
NM_052813.5(CARD9):c.575A>G (p.Gln192Arg)64170CARD9Uncertain significancers749914021RCV001064230; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265345139265345TC9:g.139265345T>C-
NM_052813.5(CARD9):c.561G>A (p.Met187Ile)64170CARD9Uncertain significance-1RCV001896342; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265359139265359CT139265359-
NM_052813.5(CARD9):c.560T>C (p.Met187Thr)64170CARD9Uncertain significancers1302956100RCV000818624; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265360139265360AG9:g.139265360A>G-
NM_052813.5(CARD9):c.550G>A (p.Asp184Asn)64170CARD9Uncertain significancers374298700RCV000701826; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265370139265370CTNC_000009.11:g.139265370C>T-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.549C>T (p.Tyr183=)64170CARD9Conflicting interpretations of pathogenicityrs528585158RCV000942475|RCV001169216; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265371139265371GA9:g.139265371G>A-
NM_052813.5(CARD9):c.548A>G (p.Tyr183Cys)64170CARD9Uncertain significancers747120908RCV001169217; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265372139265372TC9:g.139265372T>C-
NM_052813.5(CARD9):c.539A>G (p.Glu180Gly)64170CARD9Uncertain significancers1252059533RCV001324374; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265381139265381TC139265381-
NM_052813.5(CARD9):c.532T>C (p.Cys178Arg)64170CARD9Uncertain significance-1RCV001366654; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265388139265388AG139265388-
NM_052813.5(CARD9):c.525C>T (p.Leu175=)64170CARD9Likely benign-1RCV001400775; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265395139265395GA139265395-
NM_052813.5(CARD9):c.519C>T (p.Arg173=)64170CARD9Uncertain significance-1RCV002045317; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265401139265401GA139265401-
NM_052813.5(CARD9):c.517C>T (p.Arg173Cys)64170CARD9Uncertain significancers759264924RCV001210897; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265403139265403GA9:g.139265403G>A-
NM_052813.5(CARD9):c.515G>A (p.Ser172Asn)64170CARD9Uncertain significancers201802044RCV001169218; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265405139265405CT9:g.139265405C>T-
NM_052813.5(CARD9):c.513C>T (p.Gly171=)64170CARD9Benign/Likely benignrs78538457RCV001169219; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265407139265407GA9:g.139265407G>A-
NM_052813.5(CARD9):c.511G>A (p.Gly171Ser)64170CARD9Uncertain significancers140508365RCV000820949; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265409139265409CTNC_000009.11:g.139265409C>TClinGen:CA5333114CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.510C>T (p.Ala170=)64170CARD9Likely benign-1RCV001961154; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265410139265410GA139265410-
NM_052813.5(CARD9):c.508G>A (p.Ala170Thr)64170CARD9Likely benignrs112244317RCV000644011; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265412139265412CTNC_000009.11:g.139265412C>TClinGen:CA5333117C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.495G>A (p.Lys165=)64170CARD9Likely benign-1RCV001434750; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265425139265425CT139265425-
NM_052813.5(CARD9):c.489G>A (p.Arg163=)64170CARD9Likely benign-1RCV002094136; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265431139265431CT139265431-
NM_052813.5(CARD9):c.479G>A (p.Arg160His)64170CARD9Uncertain significancers747925378RCV000800304; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265441139265441CT9:g.139265441C>T-
NM_052813.5(CARD9):c.478C>T (p.Arg160Cys)64170CARD9Uncertain significancers1400756254RCV001229377; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265442139265442GA9:g.139265442G>A-
NM_052813.5(CARD9):c.464G>A (p.Arg155His)64170CARD9Uncertain significance-1RCV001952047; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265456139265456CT139265456-
NM_052813.5(CARD9):c.463C>T (p.Arg155Cys)64170CARD9Uncertain significancers199947855RCV000545325; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265457139265457GANC_000009.11:g.139265457G>AClinGen:CA5333129C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.455G>A (p.Ser152Asn)64170CARD9Uncertain significancers539919395RCV000809823; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265465139265465CT9:g.139265465C>T-
NM_052813.5(CARD9):c.443G>A (p.Arg148Gln)64170CARD9Uncertain significancers757627986RCV000823901; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265477139265477CT9:g.139265477C>T-
NM_052813.5(CARD9):c.442C>T (p.Arg148Trp)64170CARD9Uncertain significance-1RCV001910889; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265478139265478GA139265478-
NM_052813.5(CARD9):c.438G>A (p.Glu146=)64170CARD9Likely benign-1RCV002195523; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265482139265482CT139265482-
NM_052813.5(CARD9):c.436G>C (p.Glu146Gln)64170CARD9Uncertain significancers1407588129RCV001221746; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265484139265484CG9:g.139265484C>G-
NM_052813.5(CARD9):c.432C>T (p.Ile144=)64170CARD9Likely benignrs1274150394RCV000534535; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265488139265488GA9:g.139265488G>AClinGen:CA467825883C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.430A>T (p.Ile144Phe)64170CARD9Uncertain significance-1RCV002035954; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265490139265490TA139265490-
NM_052813.5(CARD9):c.421G>A (p.Asp141Asn)64170CARD9Uncertain significance-1RCV001904105; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265499139265499CT139265499-
NM_052813.5(CARD9):c.412A>C (p.Ser138Arg)64170CARD9Uncertain significance-1RCV001370805; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265508139265508TG139265508-
NM_052813.5(CARD9):c.406C>T (p.Leu136=)64170CARD9Conflicting interpretations of pathogenicityrs143393026RCV000891268; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265514139265514GA9:g.139265514G>A-
NM_052813.5(CARD9):c.402C>T (p.Thr134=)64170CARD9Likely benign-1RCV001468923; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265518139265518GA139265518-
NM_052813.5(CARD9):c.384G>A (p.Lys128=)64170CARD9Likely benign-1RCV001414215; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265536139265536CT139265536-
NM_052813.5(CARD9):c.372G>A (p.Met124Ile)64170CARD9Uncertain significancers926038111RCV001220036; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265548139265548CT9:g.139265548C>T-
NM_052813.5(CARD9):c.371T>C (p.Met124Thr)64170CARD9Uncertain significancers1274878660RCV001218958; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265549139265549AG9:g.139265549A>G-
NM_052813.5(CARD9):c.370A>G (p.Met124Val)64170CARD9Uncertain significance-1RCV001863722; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265550139265550TC139265550-
NM_052813.5(CARD9):c.367G>A (p.Val123Ile)64170CARD9Uncertain significancers780846137RCV001222034; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265553139265553CT9:g.139265553C>T-
NM_052813.5(CARD9):c.363T>C (p.Thr121=)64170CARD9Likely benign-1RCV001479366; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265557139265557AG139265557-
NM_052813.5(CARD9):c.357G>A (p.Leu119=)64170CARD9Likely benign-1RCV001417687; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265563139265563CT139265563-
NM_052813.5(CARD9):c.352C>T (p.Leu118=)64170CARD9Likely benign-1RCV002215188; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265568139265568GA139265568-
NM_052813.5(CARD9):c.332G>A (p.Gly111Glu)64170CARD9Uncertain significance-1RCV001360838; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265588139265588CT139265588-
NM_052813.5(CARD9):c.330C>G (p.Ser110=)64170CARD9Likely benignrs375434244RCV000917220|RCV001478182; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265590139265590GC9:g.139265590G>C-
NM_052813.5(CARD9):c.330C>T (p.Ser110=)64170CARD9Likely benign-1RCV002130392; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265590139265590GA139265590-
NM_052813.5(CARD9):c.327G>T (p.Ala109=)64170CARD9Likely benignrs139395199RCV000893509; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265593139265593CA9:g.139265593C>A-
NM_052813.5(CARD9):c.327G>A (p.Ala109=)64170CARD9Likely benign-1RCV001428472; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265593139265593CT139265593-
NM_052813.5(CARD9):c.326C>T (p.Ala109Val)64170CARD9Uncertain significancers760681802RCV000701249; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265594139265594GA9:g.139265594G>A-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.324C>T (p.Asp108=)64170CARD9Benign/Likely benignrs34971035RCV000644006; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265596139265596GANC_000009.11:g.139265596G>AClinGen:CA5333158C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.323-15T>C64170CARD9Likely benign-1RCV002082264; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265612139265612AG139265612-
NM_052813.5(CARD9):c.323-18C>T64170CARD9Likely benign-1RCV002075528; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265615139265615GA139265615-
NM_052813.5(CARD9):c.322+20_322+37del64170CARD9Likely benign-1RCV001504022; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265739139265756GCGCCTCCCCTGTCGGCCCG139265738-
NM_052813.5(CARD9):c.322+19G>A64170CARD9Likely benign-1RCV002174791; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265757139265757CT139265757-
NM_052813.5(CARD9):c.321C>T (p.Ile107=)64170CARD9Uncertain significancers201249152RCV001166304; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265777139265777GA9:g.139265777G>A-
NM_052813.5(CARD9):c.313A>G (p.Met105Val)64170CARD9Uncertain significancers374308759RCV001035608; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265785139265785TC9:g.139265785T>C-
NM_052813.5(CARD9):c.303C>T (p.Arg101=)64170CARD9Likely benign-1RCV001480555; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265795139265795GA139265795-
NM_052813.5(CARD9):c.301C>T (p.Arg101Cys)64170CARD9Pathogenicrs398122364RCV000074441; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265797139265797GA9:g.139265797G>AClinGen:CA145375,UniProtKB:Q9H257#VAR_070829,OMIM:607212.0005C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.297G>A (p.Pro99=)64170CARD9Benignrs115131813RCV000560751; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265801139265801CTNC_000009.11:g.139265801C>TClinGen:CA5333191C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.295C>A (p.Pro99Thr)64170CARD9Uncertain significancers1488546054RCV001338491; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265803139265803GT139265803-
NM_052813.5(CARD9):c.288C>A (p.Gly96=)64170CARD9Benign/Likely benignrs137986801RCV000960577|RCV001702440; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN5172029139265810139265810GTNC_000009.11:g.139265810G>TClinGen:CA5333197CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.285A>G (p.Thr95=)64170CARD9Likely benignrs34257731RCV000644014|RCV001424731; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265813139265813TCNC_000009.11:g.139265813T>CClinGen:CA5333199C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.271T>C (p.Tyr91His)64170CARD9Conflicting interpretations of pathogenicityrs921151054RCV000788931|RCV001067651; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265827139265827AG9:g.139265827A>G-
NM_052813.5(CARD9):c.257A>G (p.Tyr86Cys)64170CARD9Uncertain significancers1049019466RCV001299098; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265841139265841TC139265841-
NM_052813.5(CARD9):c.246C>T (p.Ser82=)64170CARD9Likely benign-1RCV002164438; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265852139265852GA139265852-
NM_052813.5(CARD9):c.240C>T (p.Leu80=)64170CARD9Uncertain significancers778088966RCV000390490; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265858139265858GANC_000009.11:g.139265858G>AClinGen:CA5333207CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.228C>T (p.Tyr76=)64170CARD9Benignrs11145769RCV000298446; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265870139265870GANC_000009.11:g.139265870G>AClinGen:CA5333208CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.223G>A (p.Gly75Ser)64170CARD9Uncertain significancers1437385436RCV000807082; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265875139265875CT9:g.139265875C>T-
NM_052813.5(CARD9):c.214G>A (p.Gly72Ser)64170CARD9Uncertain significancers398122362RCV000074438; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265884139265884CT9:g.139265884C>TClinGen:CA145368,UniProtKB:Q9H257#VAR_070828,OMIM:607212.0002C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.214G>T (p.Gly72Cys)64170CARD9Uncertain significancers398122362RCV000700097; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265884139265884CA9:g.139265884C>A-C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.213C>T (p.Thr71=)64170CARD9Likely benign-1RCV001447916; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265885139265885GA139265885-
NM_052813.5(CARD9):c.209G>A (p.Arg70Gln)64170CARD9Uncertain significancers376793464RCV001352219; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265889139265889CT139265889-
NM_052813.5(CARD9):c.185-4G>A64170CARD9Likely benignrs536158625RCV000644017; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265917139265917CTNC_000009.11:g.139265917C>TClinGen:CA5333217C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.185-5C>T64170CARD9Conflicting interpretations of pathogenicityrs760533705RCV000925820|RCV001436350; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265918139265918GA9:g.139265918G>A-
NM_052813.5(CARD9):c.185-7C>T64170CARD9Uncertain significance-1RCV001994071; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265920139265920GA139265920-
NM_052813.5(CARD9):c.185-11C>T64170CARD9Likely benign-1RCV002154450; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265924139265924GA139265924-
NM_052813.5(CARD9):c.185-13C>T64170CARD9Likely benign-1RCV002096956; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139265926139265926GA139265926-
NM_052813.5(CARD9):c.184+17G>A64170CARD9Uncertain significance-1RCV002050213; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266330139266330CT139266330-
NM_052813.5(CARD9):c.184+16C>T64170CARD9Likely benign-1RCV002151474; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266331139266331GA139266331-
NM_052813.5(CARD9):c.184+15dup64170CARD9Likely benign-1RCV002135584; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266331139266332GGC139266331-
NM_052813.5(CARD9):c.184+15G>A64170CARD9Likely benign-1RCV002116218; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266332139266332CT139266332-
NM_052813.5(CARD9):c.170G>A (p.Arg57His)64170CARD9Uncertain significancers940550122RCV001064701; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266361139266361CT9:g.139266361C>T-
NM_052813.5(CARD9):c.158A>G (p.Asn53Ser)64170CARD9Uncertain significance-1RCV002025599; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266373139266373TC139266373-
NM_052813.5(CARD9):c.156C>A (p.Pro52=)64170CARD9Likely benignrs926803855RCV000942466|RCV001447954; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266375139266375GT9:g.139266375G>T-
NM_052813.5(CARD9):c.150C>T (p.Ser50=)64170CARD9Likely benign-1RCV002085957; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266381139266381GA139266381-
NM_052813.5(CARD9):c.135G>A (p.Glu45=)64170CARD9Likely benign-1RCV002211659; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266396139266396CT139266396-
NM_052813.5(CARD9):c.129T>C (p.Asp43=)64170CARD9Likely benign-1RCV001446308; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266402139266402AG139266402-
NM_052813.5(CARD9):c.126C>T (p.Pro42=)64170CARD9Benignrs10781499RCV000351119|RCV000455755; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN1693749139266405139266405GANC_000009.11:g.139266405G>AClinGen:CA5333246CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.96T>C (p.Pro32=)64170CARD9Likely benign-1RCV002130165; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266435139266435AG139266435-
NM_052813.5(CARD9):c.86G>A (p.Arg29His)64170CARD9Uncertain significancers201587695RCV001216268; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266445139266445CT9:g.139266445C>T-
NM_052813.5(CARD9):c.78C>T (p.Asp26=)64170CARD9Likely benign-1RCV002112069; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266453139266453GA139266453-
NM_052813.5(CARD9):c.75C>T (p.Ile25=)64170CARD9Likely benign-1RCV001471029; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266456139266456GA139266456-
NM_052813.5(CARD9):c.75C>G (p.Ile25Met)64170CARD9Uncertain significance-1RCV002008931; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266456139266456GC139266456-
NM_052813.5(CARD9):c.68C>T (p.Ser23Leu)64170CARD9Uncertain significancers775267971RCV000644001; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266463139266463GANC_000009.11:g.139266463G>AClinGen:CA5333258C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.59C>T (p.Thr20Met)64170CARD9Uncertain significancers763713013RCV001350890; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266472139266472GA139266472-
NM_052813.5(CARD9):c.54G>A (p.Arg18=)64170CARD9Likely benignrs761273064RCV000926120|RCV001502354; NMedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266477139266477CT9:g.139266477C>T-
NM_052813.5(CARD9):c.50T>C (p.Phe17Ser)64170CARD9Uncertain significancers1833288953RCV001059439; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266481139266481AG9:g.139266481A>G-
NM_052813.5(CARD9):c.37G>A (p.Val13Ile)64170CARD9Uncertain significance-1RCV001987528; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266494139266494CT139266494-
NM_052813.5(CARD9):c.35G>A (p.Ser12Asn)64170CARD9Benignrs4077515RCV000408113|RCV000454561; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN1693749139266496139266496CTNC_000009.11:g.139266496C>TClinGen:CA5333266,UniProtKB:Q9H257#VAR_048607CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.25G>A (p.Glu9Lys)64170CARD9Uncertain significancers369865691RCV000824334; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266506139266506CT9:g.139266506C>T-
NM_052813.5(CARD9):c.24C>T (p.Asp8=)64170CARD9Benignrs148523221RCV000959859; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266507139266507GA9:g.139266507G>A-
NM_052813.5(CARD9):c.19G>A (p.Asp7Asn)64170CARD9Uncertain significancers374091388RCV000311218; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266512139266512CTNC_000009.11:g.139266512C>TClinGen:CA5333270CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.18C>T (p.Asn6=)64170CARD9Likely benign-1RCV002171788; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266513139266513GA139266513-
NM_052813.5(CARD9):c.13G>A (p.Glu5Lys)64170CARD9Uncertain significancers371061371RCV001326189; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266518139266518CT139266518-
NM_052813.5(CARD9):c.12C>T (p.Tyr4=)64170CARD9Conflicting interpretations of pathogenicityrs35051231RCV000644012|RCV001702361; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN5172029139266519139266519GANC_000009.11:g.139266519G>AClinGen:CA5333273C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.10T>C (p.Tyr4His)64170CARD9Uncertain significancers775128842RCV001035607; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139266521139266521AG9:g.139266521A>G-
NM_052813.5(CARD9):c.-24A>C64170CARD9Benignrs73565169RCV000271466; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139267991139267991TGNC_000009.11:g.139267991T>GClinGen:CA10632999CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-73C>T64170CARD9Uncertain significancers916468137RCV001166818; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139268040139268040GA9:g.139268040G>A-
NM_052813.5(CARD9):c.-82C>G64170CARD9Likely benignrs78291627RCV000310178; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139268049139268049GCNC_000009.11:g.139268049G>CClinGen:CA10629583CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-113C>T64170CARD9Uncertain significancers3812557RCV001166819; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139268080139268080GA9:g.139268080G>A-
NM_052813.5(CARD9):c.-119C>G64170CARD9Uncertain significancers190979325RCV000362231; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139268086139268086GCNC_000009.11:g.139268086G>CClinGen:CA10633000CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-126C>A64170CARD9Uncertain significancers575640702RCV000269944; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139268093139268093GTNC_000009.11:g.139268093G>TClinGen:CA10629585CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-139G>A64170CARD9Uncertain significancers886063707RCV000322586; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139268106139268106CTNC_000009.11:g.139268106C>TClinGen:CA10626886CN239217 Familial Candidiasis, Recessive;
NC_000009.12:g.136373681C>T64170CARD9Uncertain significancers1239477335RCV001168533; NMONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:4570889139268133139268133CT9:g.139268133C>T-
MSeqDR Portal