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
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Parent Node:
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Immunologic Deficiency Syndromes (D007153)
..Starting node
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IMMUNODEFICIENCY 51 (OMIM:613953)

       Child Nodes:



 Sister Nodes: 
..expandActivated PI3K-delta Syndrome (C585640)
..expandAgammaglobulinemia (D000361) Child19
..expandAntibody Deficiency due to Defect in CD19 (C566275)
..expandAtaxia Telangiectasia (D001260) Child6
..expandAUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandC1q DEFICIENCY (OMIM:613652)
..expandC9 Deficiency (C565165)
..expandC9 Deficiency with Dermatomyositis (C565166)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandCd4+ Lymphocyte Deficiency (C566079)
..expandCD8 Deficiency, Familial (C563824)
..expandCombined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..expandCombined Inflammatory and Immunologic Defect (C565684)
..expandCommon Variable Immunodeficiency (D017074)
..expandCOMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..expandComplement Component 3 Deficiency, Autosomal Recessive (C565169)
..expandComplement Component 4, Partial Deficiency Of (C565168)
..expandComplement Component 4a Deficiency (C565167)
..expandCOMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..expandComplement component 5 deficiency (C537005)
..expandComplement Component 6 Deficiency (C567307)
..expandComplement Component 7 Deficiency (C566443)
..expandCOMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..expandComplement Component C1s Deficiency (C565170)
..expandCOMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..expandComplement Factor D Deficiency (C565027)
..expandDavenport Donlan syndrome (C535988)
..expandDeltaretrovirus Infections (D006800) Child4
..expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..expandDysgammaglobulinemia (D004406) Child11
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEndotoxin Hyporesponsiveness (C566417)
..expandEnteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..expandERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..expandFACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..expandFanconi like syndrome (C536855)
..expandFICOLIN 3 DEFICIENCY (OMIM:613860)
..expandGriscelli syndrome type 2 (C537302)
..expandHepatic venoocclusive disease with immunodeficiency (C537257)
..expandHIV Infections (D015658) Child12
..expandHypoglobulinemia and Absent B Cells (C565765)
..expandImmune Deficiency Disease (C565469)
..expandImmune Deficiency, Familial Variable (C564136)
..expandIMMUNODEFICIENCY 11 (OMIM:615206)
..expandIMMUNODEFICIENCY 12 (OMIM:615468)
..expandIMMUNODEFICIENCY 14 (OMIM:615513)
..expandIMMUNODEFICIENCY 15B (OMIM:615592)
..expandIMMUNODEFICIENCY 16 (OMIM:615593)
..expandIMMUNODEFICIENCY 17 (OMIM:615607)
..expandIMMUNODEFICIENCY 18 (OMIM:615615)
..expandIMMUNODEFICIENCY 19 (OMIM:615617)
..expandIMMUNODEFICIENCY 20 (OMIM:615707)
..expandIMMUNODEFICIENCY 21 (OMIM:614172)
..expandIMMUNODEFICIENCY 22 (OMIM:615758)
..expandIMMUNODEFICIENCY 23 (OMIM:615816)
..expandIMMUNODEFICIENCY 24 (OMIM:615897)
..expandIMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..expandIMMUNODEFICIENCY 27B (OMIM:615978)
..expandIMMUNODEFICIENCY 28 (OMIM:614889)
..expandIMMUNODEFICIENCY 29 (OMIM:614890)
..expandIMMUNODEFICIENCY 30 (OMIM:614891)
..expandIMMUNODEFICIENCY 31A (OMIM:614892)
..expandIMMUNODEFICIENCY 31B (OMIM:613796)
..expandIMMUNODEFICIENCY 31C (OMIM:614162)
..expandIMMUNODEFICIENCY 32A (OMIM:614893)
..expandIMMUNODEFICIENCY 32B (OMIM:226990)
..expandIMMUNODEFICIENCY 36 (OMIM:616005)
..expandIMMUNODEFICIENCY 37 (OMIM:616098)
..expandIMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..expandIMMUNODEFICIENCY 39 (OMIM:616345)
..expandIMMUNODEFICIENCY 40 (OMIM:616433)
..expandIMMUNODEFICIENCY 42 (OMIM:616622)
..expandIMMUNODEFICIENCY 44 (OMIM:616636)
..expandIMMUNODEFICIENCY 45 (OMIM:616669)
..expandIMMUNODEFICIENCY 46 (OMIM:616740)
..expandIMMUNODEFICIENCY 47 (OMIM:300972)
..expandIMMUNODEFICIENCY 48 (OMIM:269840)
..expandIMMUNODEFICIENCY 49 (OMIM:617237)
..expandIMMUNODEFICIENCY 50 (OMIM:300988)
..expandIMMUNODEFICIENCY 51 (OMIM:613953)
..expandIMMUNODEFICIENCY 54 (OMIM:609981)
..expandIMMUNODEFICIENCY 56 (OMIM:615207)
..expandIMMUNODEFICIENCY 8 (OMIM:615401)
..expandImmunodeficiency due to Defect in CD3-Epsilon (C566082)
..expandImmunodeficiency due to Defect in CD3-Gamma (C566083)
..expandImmunodeficiency due to Defect in CD3-Zeta (C565712)
..expandImmunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..expandImmunodeficiency syndrome, variable (C537362) Child1
..expandImmunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..expandImmunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..expandImmunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..expandImmunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..expandImmunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..expandImmunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..expandIMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..expandInosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..expandInterleukin 2 Receptor, Alpha, Deficiency of (C565232)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..expandIRAK4 Deficiency (C564352)
..expandKappa-Chain Deficiency (C564131)
..expandKotzot-Richter syndrome (C537025)
..expandLeukocyte-Adhesion Deficiency Syndrome (D018370) Child2
..expandLichtenstein syndrome (C535894)
..expandLIG4 Syndrome (C564694)
..expandLUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..expandLymphoblastic Transformation, Intrinsic Defect in (C565431)
..expandLymphoid System Deterioration, Progressive (C565430)
..expandLymphokine Deficiency (C565428)
..expandLymphopenia (D008231) Child5
..expandLymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..expandMASP2 Deficiency (C565360)
..expandMYD88 Deficiency (C567379)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandNatural Killer Cell Deficiency, Familial Isolated (C566492)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNeutrophil Immunodeficiency Syndrome (C564275)
..expandPhagocyte Bactericidal Dysfunction (D010585) Child14
..expandProperdin Deficiency, Type II (C564075)
..expandProperdin Deficiency, Type III (C564076)
..expandRiddle Syndrome (C567453)
..expandRoifman syndrome (C535866)
..expandRoifman-Chitayat Syndrome (C567641)
..expandSchimke immunoosseous dysplasia (C536629)
..expandSevere Combined Immunodeficiency (D016511) Child22  LSDB C:1
..expandSevere Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..expandSplenic Hypoplasia (C563028)
..expandT cell immunodeficiency primary (C536780)
..expandT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..expandT-Cell OKT4 Deficiency (C566080)
..expandT-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..expandThumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..expandThymic aplasia (C536288)
..expandTuftsin Deficiency (C562872)
..expandWHIM syndrome (C536697)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6286
Name:IMMUNODEFICIENCY 51
Definition:
Alternative IDs:DO:DOID:2058
ParentIDs:MESH:D007153
TreeNumbers:C20.673/613953
Synonyms:CANDF5, FORMERLY |CANDIDIASIS, FAMILIAL, 5, FORMERLY |IMD51
Slim Mappings:Immune system disease
Reference: MedGen: 613953
MeSH: 613953
OMIM: 613953;
MSeqDR LSDB:  
Genes: IL17RA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002728Chronic mucocutaneous candidiasis
3 HP:0002205Recurrent respiratory infectionsHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014339.6(IL17RA):c.-126C>G23765IL17RABenignrs562165706RCV000361820; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756585617565856CG22:g.17565856C>GClinGen:CA10653757
NM_014339.6(IL17RA):c.-95G>C23765IL17RAUncertain significancers529290465RCV000267703; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756588717565887GC22:g.17565887G>CClinGen:CA10653758
NM_014339.6(IL17RA):c.-42G>A23765IL17RAUncertain significancers551693587RCV000261630; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756594017565940GA22:g.17565940G>AClinGen:CA10086196
NM_014339.6(IL17RA):c.-39C>T23765IL17RAUncertain significancers775719038RCV000319181; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756594317565943CT22:g.17565943C>TClinGen:CA10086197
NM_014339.7(IL17RA):c.-33C>G23765IL17RABenign-1RCV001136745; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756594917565949CG22:g.17565949C>G-
NM_014339.6(IL17RA):c.-27C>G23765IL17RAUncertain significancers886057199RCV000385295; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756595517565955CG22:g.17565955C>GClinGen:CA10653130
NM_014339.7(IL17RA):c.-23C>A23765IL17RAUncertain significance-1RCV001138982; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756595917565959CA22:g.17565959C>A-
NC_000022.11:g.(?_17085072)_(17109840_?)dup23765IL17RAUncertain significance-1RCV001033040; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756596217590730nana-1-
NM_014339.6(IL17RA):c.8C>T (p.Ala3Val)23765IL17RAUncertain significancers567320041RCV000799938; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756598917565989CT22:g.17565989C>T-
NM_014339.7(IL17RA):c.19C>T (p.Pro7Ser)23765IL17RALikely benignrs534399492RCV000886918; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756600017566000CT22:g.17566000C>T-
NM_014339.6(IL17RA):c.20C>T (p.Pro7Leu)23765IL17RALikely benignrs143652002RCV000352789|RCV000533617; NMedGen:CN239217|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756600117566001CT22:g.17566001C>TClinGen:CA10086205
NM_014339.6(IL17RA):c.26C>T (p.Ser9Phe)23765IL17RAUncertain significancers752407403RCV000796551; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756600717566007CT22:g.17566007C>T-
NM_014339.7(IL17RA):c.30T>A (p.Ala10=)23765IL17RAConflicting interpretations of pathogenicityrs577217331RCV000886919; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756601117566011TA22:g.17566011T>A-
NM_014339.6(IL17RA):c.36G>T (p.Pro12=)23765IL17RAConflicting interpretations of pathogenicityrs886057200RCV000381694|RCV000927504; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334|MedGen:CN517202221756601717566017GT22:g.17566017G>TClinGen:CA10650769
NM_014339.7(IL17RA):c.56T>G (p.Leu19Arg)23765IL17RAUncertain significance-1RCV001236340; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756603717566037TG22:g.17566037T>G-
NM_014339.6(IL17RA):c.70G>C (p.Gly24Arg)23765IL17RAUncertain significancers41510847RCV000548005; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756605117566051GC22:g.17566051G>CClinGen:CA10086214
NM_014339.7(IL17RA):c.73G>C (p.Val25Leu)23765IL17RAUncertain significance-1RCV001038373; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756605417566054GC22:g.17566054G>C-
NM_014339.6(IL17RA):c.80C>A (p.Ala27Asp)23765IL17RAUncertain significancers1490955421RCV000803689; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756606117566061CA22:g.17566061C>A-
NM_014339.7(IL17RA):c.121C>G (p.Leu41Val)23765IL17RAUncertain significance-1RCV001141594; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756610217566102CG22:g.17566102C>G-
NM_014339.6(IL17RA):c.133C>A (p.Gln45Lys)23765IL17RAUncertain significancers1006074686RCV000698300; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756611417566114CA22:g.17566114C>A-
NM_014339.6(IL17RA):c.138G>A (p.Pro46=)23765IL17RAUncertain significancers1186749135RCV000792386; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756611917566119GA22:g.17566119G>A-
NM_014339.6(IL17RA):c.138+12C>T23765IL17RABenignrs534287611RCV000289706; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221756613117566131CT22:g.17566131C>TClinGen:CA10086217
NM_014339.6(IL17RA):c.152C>T (p.Thr51Met)23765IL17RAConflicting interpretations of pathogenicityrs143008696RCV000653466; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757796517577965CT22:g.17577965C>TClinGen:CA10086230CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.166_169dup (p.Cys57fs)23765IL17RAPathogenicrs1601340933RCV000804480; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757868717578688GGTACC22:g.17578687_17578688insTACC-
NM_014339.6(IL17RA):c.166A>G (p.Thr56Ala)23765IL17RAUncertain significancers756664595RCV000806061; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757868917578689AG22:g.17578689A>G-
NM_014339.6(IL17RA):c.196C>T (p.Arg66Ter)23765IL17RAPathogenicrs1057518745RCV000412660; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757871917578719CT22:g.17578719C>TClinGen:CA16042240,OMIM:605461.0004C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.199A>G (p.Asn67Asp)23765IL17RAUncertain significancers886057201RCV000406311; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757872217578722AG22:g.17578722A>GClinGen:CA10653760CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.220A>G (p.Lys74Glu)23765IL17RAUncertain significancers752964419RCV000283852; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757874317578743AG22:g.17578743A>GClinGen:CA10086261CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.227T>C (p.Leu76Pro)23765IL17RAUncertain significance-1RCV001230468; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757875017578750TC22:g.17578750T>C-
NM_014339.7(IL17RA):c.233del (p.Ile78fs)23765IL17RAPathogenic-1RCV001063413; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757875617578756ATA22:g.17578756_17578756del-
NM_014339.6(IL17RA):c.268del (p.Leu90fs)23765IL17RAPathogenicrs1057518746RCV000412553; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757879017578790ACA22:g.17578790_17578790delClinGen:CA16042241,OMIM:605461.0005C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.277G>A (p.Val93Met)23765IL17RAUncertain significancers147495146RCV000815506; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757880017578800GA22:g.17578800G>A-
NM_014339.6(IL17RA):c.289G>A (p.Glu97Lys)23765IL17RAUncertain significancers749306401RCV000795861; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757881217578812GA22:g.17578812G>A-
NM_014339.6(IL17RA):c.310+2T>C23765IL17RALikely pathogenicrs201128237RCV000701763; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757883517578835TC22:g.17578835T>C-
NM_014339.7(IL17RA):c.310+3G>A23765IL17RAUncertain significance-1RCV001067118; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757883617578836GA22:g.17578836G>A-
NM_014339.7(IL17RA):c.327C>T (p.Leu109=)23765IL17RALikely benignrs202060976RCV000886937; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757968117579681CT22:g.17579681C>T-
NM_014339.6(IL17RA):c.328G>A (p.Glu110Lys)23765IL17RAUncertain significancers376575302RCV000653446; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757968217579682GA22:g.17579682G>AClinGen:CA10086314C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.354G>A (p.Gln118=)23765IL17RAUncertain significancers762177800RCV000341148; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757970817579708GA22:g.17579708G>AClinGen:CA10086319CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.355C>A (p.Leu119Met)23765IL17RAUncertain significancers766246086RCV000393283; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757970917579709CA22:g.17579709C>AClinGen:CA10086320CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.371G>A (p.Arg124His)23765IL17RAUncertain significance-1RCV001247196; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757972517579725GA22:g.17579725G>A-
NM_014339.7(IL17RA):c.386T>A (p.Phe129Tyr)23765IL17RAUncertain significance-1RCV001238489; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757974017579740TA22:g.17579740T>A-
NM_014339.6(IL17RA):c.422G>A (p.Arg141Gln)23765IL17RAUncertain significancers746193437RCV000305739; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221757977617579776GA22:g.17579776G>AClinGen:CA10086331CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.427C>T (p.Arg143Cys)23765IL17RAUncertain significancers145378071RCV000535138; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758124817581248CT22:g.17581248C>TClinGen:CA10086362CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.465G>C (p.Gln155His)23765IL17RAConflicting interpretations of pathogenicityrs142199303RCV000884861; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758128617581286GC22:g.17581286G>CClinGen:CA10086368CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.481G>A (p.Val161Ile)23765IL17RAUncertain significance-1RCV001047129; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758130217581302GA22:g.17581302G>A-
NM_014339.7(IL17RA):c.482T>C (p.Val161Ala)23765IL17RAUncertain significance-1RCV001069308; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758130317581303TC22:g.17581303T>C-
NM_014339.7(IL17RA):c.544G>C (p.Val182Leu)23765IL17RAUncertain significance-1RCV001136851; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758136517581365GC22:g.17581365G>C-
NM_014339.6(IL17RA):c.551-9G>T23765IL17RABenign/Likely benignrs17205308RCV000357195|RCV000543055; NMedGen:CN239217|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758287717582877GT22:g.17582877G>TClinGen:CA10086395CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.561C>T (p.His187=)23765IL17RAConflicting interpretations of pathogenicityrs371342533RCV000274104|RCV000960646; NMedGen:CN239217|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758289617582896CT22:g.17582896C>TClinGen:CA10086399CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.562G>A (p.Ala188Thr)23765IL17RAUncertain significance-1RCV001211160; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758289717582897GA22:g.17582897G>A-
NM_014339.6(IL17RA):c.581C>T (p.Thr194Met)23765IL17RAUncertain significancers151220068RCV000560304; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758291617582916CT22:g.17582916C>TClinGen:CA10086406C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.598+5C>T23765IL17RAUncertain significancers765670063RCV000331557; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758293817582938CT22:g.17582938C>TClinGen:CA10086410CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.599-5G>A23765IL17RALikely benignrs570076897RCV000940743; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758302417583024GA22:g.17583024G>A-
NM_014339.7(IL17RA):c.603C>G (p.Ser201Arg)23765IL17RAUncertain significance-1RCV001136852; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758303317583033CG22:g.17583033C>G-
NM_014339.7(IL17RA):c.617A>C (p.Asn206Thr)23765IL17RAUncertain significance-1RCV001203754; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758304717583047AC22:g.17583047A>C-
NM_014339.6(IL17RA):c.625G>A (p.Val209Met)23765IL17RAUncertain significancers534512644RCV000369953; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758305517583055GA22:g.17583055G>AClinGen:CA10086441CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.634C>T (p.Leu212=)23765IL17RALikely benignrs1046787585RCV000892716; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758306417583064CT22:g.17583064C>T-
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val)23765IL17RAConflicting interpretations of pathogenicityrs558799480RCV000926289; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758307117583071CT22:g.17583071C>T-
NM_014339.6(IL17RA):c.653G>A (p.Arg218His)23765IL17RAUncertain significancers140367455RCV000700582; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758308317583083GA22:g.17583083G>A-C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.655G>T (p.Val219Leu)23765IL17RALikely benign-1RCV001136853; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758308517583085GT22:g.17583085G>T-
NM_014339.6(IL17RA):c.665C>A (p.Thr222Asn)23765IL17RAUncertain significancers1568920472RCV000695429; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758309517583095CA22:g.17583095C>A-
NM_014339.6(IL17RA):c.676G>A (p.Glu226Lys)23765IL17RAUncertain significancers144085995RCV000277143; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758310617583106GA22:g.17583106G>AClinGen:CA10086452CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.676G>C (p.Glu226Gln)23765IL17RAConflicting interpretations of pathogenicityrs144085995RCV000536377; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758310617583106GC22:g.17583106G>CClinGen:CA10086451CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.706A>T (p.Ser236Cys)23765IL17RAUncertain significance-1RCV001042119; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758313617583136AT22:g.17583136A>T-
NM_014339.7(IL17RA):c.718A>G (p.Met240Val)23765IL17RAUncertain significance-1RCV001041161; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758314817583148AG22:g.17583148A>G-
NM_014339.7(IL17RA):c.758C>T (p.Pro253Leu)23765IL17RAUncertain significance-1RCV001139092; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758318817583188CT22:g.17583188C>T-
NM_014339.7(IL17RA):c.763C>T (p.Pro255Ser)23765IL17RAUncertain significance-1RCV001063948; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758438417584384CT22:g.17584384C>T-
NM_001289905.1(IL17RA):c.764_768CCAGA[1] (p.Pro257fs)23765IL17RAPathogenicrs1057518747RCV000412583; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758438517584389CCCAGAC22:g.17584385_17584389delClinGen:CA16042242,OMIM:605461.0006
NM_014339.6(IL17RA):c.787C>T (p.Arg263Ter)23765IL17RAPathogenicrs778624945RCV000704330; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758440817584408CT22:g.17584408C>T-
NM_014339.7(IL17RA):c.788G>A (p.Arg263Gln)23765IL17RAUncertain significance-1RCV001204313; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758440917584409GA22:g.17584409G>A-
NM_014339.7(IL17RA):c.794A>G (p.Asn265Ser)23765IL17RAUncertain significance-1RCV001063809; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758441517584415AG22:g.17584415A>G-
NM_014339.6(IL17RA):c.812G>A (p.Arg271His)23765IL17RAUncertain significancers775839180RCV000653449; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758443317584433GA22:g.17584433G>AClinGen:CA10086498CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.812_813delinsAA (p.Arg271Gln)23765IL17RAUncertain significancers1601345228RCV000812731; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758443317584434GCAANC_000022.10:g.17584433_17584434delinsAA-
NM_014339.6(IL17RA):c.813C>A (p.Arg271=)23765IL17RAUncertain significancers763313591RCV000289969; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758443417584434CA22:g.17584434C>AClinGen:CA10086499CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.832C>T (p.Arg278Cys)23765IL17RAUncertain significancers767388612RCV000528555; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758445317584453CT22:g.17584453C>TClinGen:CA10086500
NM_014339.7(IL17RA):c.833G>A (p.Arg278His)23765IL17RABenignrs141467790RCV000967787; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758445417584454GA22:g.17584454G>A-
NM_014339.6(IL17RA):c.847-14C>G23765IL17RAUncertain significancers201410617RCV000328487; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758560217585602CG22:g.17585602C>GClinGen:CA10086512CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.847A>G (p.Ile283Val)23765IL17RAUncertain significancers886057202RCV000376187; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758561617585616AG22:g.17585616A>GClinGen:CA10653763CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.850C>T (p.Gln284Ter)23765IL17RAPathogenicrs387906913RCV000023443; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758561917585619CT22:g.17585619C>TClinGen:CA129263,OMIM:605461.0001C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.855C>G (p.Pro285=)23765IL17RABenignrs41339945RCV000653461; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758562417585624CG22:g.17585624C>GClinGen:CA10086518C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.859T>C (p.Phe287Leu)23765IL17RAUncertain significance-1RCV001226090; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758562817585628TC22:g.17585628T>C-
NM_014339.6(IL17RA):c.873C>T (p.Leu291=)23765IL17RABenignrs2228077RCV000653457; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758564217585642CT22:g.17585642C>TClinGen:CA10086525
NM_014339.7(IL17RA):c.889C>T (p.His297Tyr)23765IL17RABenignrs180787596RCV000887198; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758565817585658CT22:g.17585658C>T-
NM_014339.6(IL17RA):c.894C>T (p.Ser298=)23765IL17RAUncertain significancers374537654RCV000284020; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758566317585663CT22:g.17585663C>TClinGen:CA10086529CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.907T>C (p.Cys303Arg)23765IL17RAUncertain significance-1RCV001141704; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758567617585676TC22:g.17585676T>C-
NM_014339.6(IL17RA):c.926C>T (p.Thr309Ile)23765IL17RAUncertain significancers776247658RCV000653447; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758569517585695CT22:g.17585695C>TClinGen:CA10086539
NM_014339.7(IL17RA):c.931+7del23765IL17RABenignrs531944007RCV000536725; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758570417585704AGA22:g.17585704_17585704delClinGen:CA10086542
NM_014339.7(IL17RA):c.932-10C>T23765IL17RABenignrs2241046RCV000341309|RCV000455273|RCV000610203; NMedGen:CN239217|MedGen:CN169374|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758647117586471CT22:g.17586471C>TClinGen:CA10086565
NM_014339.7(IL17RA):c.941C>T (p.Pro314Leu)23765IL17RAUncertain significance-1RCV001233166; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758649017586490CT22:g.17586490C>T-
NM_014339.6(IL17RA):c.942G>A (p.Pro314=)23765IL17RALikely benignrs41321447RCV000653462; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758649117586491GA22:g.17586491G>AClinGen:CA10086569
NM_014339.7(IL17RA):c.942G>C (p.Pro314=)23765IL17RAUncertain significance-1RCV001069001; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758649117586491GC22:g.17586491G>C-
NM_014339.7(IL17RA):c.943+3A>T23765IL17RAUncertain significance-1RCV001232386; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758649517586495AT22:g.17586495A>T-
NM_014339.7(IL17RA):c.944-5C>T23765IL17RALikely benignrs370875549RCV000920138; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758673817586738CT22:g.17586738C>T-
NM_014339.7(IL17RA):c.952C>T (p.Pro318Ser)23765IL17RAUncertain significance-1RCV001043032; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758675117586751CT22:g.17586751C>T-
NM_014339.6(IL17RA):c.958T>C (p.Trp320Arg)23765IL17RAConflicting interpretations of pathogenicityrs140221307RCV000278506|RCV000653465; NMedGen:CN239217|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758675717586757TC22:g.17586757T>CClinGen:CA10086605
NM_014339.7(IL17RA):c.960G>T (p.Trp320Cys)23765IL17RAUncertain significance-1RCV001041054; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758675917586759GT22:g.17586759G>T-
NM_014339.7(IL17RA):c.978G>A (p.Thr326=)23765IL17RAConflicting interpretations of pathogenicityrs143239201RCV000893496; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758677717586777GA22:g.17586777G>A-
NM_014339.7(IL17RA):c.1021G>A (p.Val341Ile)23765IL17RAUncertain significance-1RCV001231424; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758682017586820GA22:g.17586820G>A-
NM_014339.7(IL17RA):c.1030A>G (p.Thr344Ala)23765IL17RAUncertain significance-1RCV001062277; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758682917586829AG22:g.17586829A>G-
NM_014339.6(IL17RA):c.1045+6C>T23765IL17RAConflicting interpretations of pathogenicityrs763664351RCV000917963; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758685017586850CT22:g.17586850C>TClinGen:CA10086625
NM_014339.6(IL17RA):c.1045+7G>A23765IL17RAConflicting interpretations of pathogenicityrs572837622RCV000892588; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758685117586851GA22:g.17586851G>AClinGen:CA10086626
NM_014339.6(IL17RA):c.1046G>C (p.Gly349Ala)23765IL17RAConflicting interpretations of pathogenicityrs143897670RCV000941998; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758861717588617GC22:g.17588617G>CClinGen:CA10086648
NM_014339.6(IL17RA):c.1081T>C (p.Tyr361His)23765IL17RAUncertain significancers34545718RCV000699691; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758865217588652TC22:g.17588652T>C-C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.1086C>A (p.Thr362=)23765IL17RAUncertain significancers139716919RCV000694843; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758865717588657CA22:g.17588657C>A-
NM_014339.7(IL17RA):c.1086C>T (p.Thr362=)23765IL17RAUncertain significance-1RCV001143526; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758865717588657CT22:g.17588657C>T-
NM_014339.6(IL17RA):c.1087G>A (p.Asp363Asn)23765IL17RAUncertain significancers149771513RCV000814596; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758865817588658GA22:g.17588658G>A-
NM_014339.6(IL17RA):c.1102G>A (p.Ala368Thr)23765IL17RAUncertain significancers1568923119RCV000698833; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758921117589211GA22:g.17589211G>A-
NM_014339.6(IL17RA):c.1116C>T (p.Pro372=)23765IL17RABenignrs138584265RCV000538804; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758922517589225CT22:g.17589225C>TClinGen:CA10086676C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.1118C>T (p.Pro373Leu)23765IL17RAUncertain significancers768987583RCV000816248; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758922717589227CT22:g.17589227C>T-
NM_014339.6(IL17RA):c.1120C>T (p.Pro374Ser)23765IL17RAUncertain significancers1601349199RCV000806444; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758922917589229CT22:g.17589229C>T-
NM_014339.7(IL17RA):c.1122G>A (p.Pro374=)23765IL17RALikely benignrs202242816RCV000944904; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758923117589231GA22:g.17589231G>A-
NM_014339.6(IL17RA):c.1159G>A (p.Asp387Asn)23765IL17RAPathogenicrs1057519079RCV000412594; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758926817589268GA22:g.17589268G>AClinGen:CA16042239,OMIM:605461.0003
NM_014339.6(IL17RA):c.1165C>T (p.Pro389Ser)23765IL17RAUncertain significancers776885778RCV000794518; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758927417589274CT22:g.17589274C>T-
NM_014339.6(IL17RA):c.1166C>G (p.Pro389Arg)23765IL17RAUncertain significancers561656428RCV000816824; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758927517589275CG22:g.17589275C>G-
NM_014339.6(IL17RA):c.1167C>G (p.Pro389=)23765IL17RAUncertain significancers139412425RCV000313706; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758927617589276CG22:g.17589276C>GClinGen:CA10086687
NM_014339.6(IL17RA):c.1174G>T (p.Val392Leu)23765IL17RAConflicting interpretations of pathogenicityrs146478431RCV000653464|RCV001091901; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334|MedGen:CN517202221758928317589283GT22:g.17589283G>TClinGen:CA10086690C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)23765IL17RALikely benignrs151166583RCV000892960; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758934117589341CT22:g.17589341C>T-
NM_014339.6(IL17RA):c.1233C>T (p.Ala411=)23765IL17RAUncertain significancers552425210RCV000270420; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758934217589342CT22:g.17589342C>TClinGen:CA10086704
NM_014339.7(IL17RA):c.1256C>G (p.Ala419Gly)23765IL17RAUncertain significance-1RCV001235602; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758936517589365CG22:g.17589365C>G-
NM_014339.6(IL17RA):c.1302_1318dup (p.Asn440fs)23765IL17RAPathogenicrs1057518744RCV000412511; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758940617589407AAAGCAGGAGATGGTGGAG22:g.17589406_17589407insAGCAGGAGATGGTGGAGClinGen:CA16042238,OMIM:605461.0002C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1316G>A (p.Ser439Asn)23765IL17RAUncertain significance-1RCV001139201; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758942517589425GA22:g.17589425G>A-
NM_014339.6(IL17RA):c.1323dup (p.Lys442Ter)23765IL17RAUncertain significancers1568923319RCV000767996; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758943117589432CCT22:g.17589431_17589432insT-
NM_014339.6(IL17RA):c.1338G>A (p.Leu446=)23765IL17RALikely benignrs140139879RCV000556093; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758944717589447GA22:g.17589447G>AClinGen:CA10086717C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=)23765IL17RAUncertain significance-1RCV001139202; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758945617589456CT22:g.17589456C>T-
NM_014339.6(IL17RA):c.1354C>T (p.Arg452Cys)23765IL17RAUncertain significancers771869327RCV000703992; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758946317589463CT22:g.17589463C>T-C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp)23765IL17RAConflicting interpretations of pathogenicityrs554211497RCV000981731|RCV001139203; NMedGen:CN517202|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758949017589490CT22:g.17589490C>T-
NM_014339.6(IL17RA):c.1400T>C (p.Leu467Pro)23765IL17RAUncertain significancers369912474RCV000653445; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758950917589509TC22:g.17589509T>CClinGen:CA10086742
NM_014339.6(IL17RA):c.1402C>T (p.Arg468Cys)23765IL17RAUncertain significancers1465132286RCV000532154; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758951117589511CT22:g.17589511C>TClinGen:CA410216826
NM_014339.6(IL17RA):c.1407C>T (p.Cys469=)23765IL17RAConflicting interpretations of pathogenicityrs41396346RCV000653456; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758951617589516CT22:g.17589516C>TClinGen:CA10086745
NM_014339.6(IL17RA):c.1412A>G (p.His471Arg)23765IL17RALikely benignrs138446583RCV000653458; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758952117589521AG22:g.17589521A>GClinGen:CA10086748
NM_014339.7(IL17RA):c.1414G>A (p.Gly472Arg)23765IL17RAUncertain significance-1RCV001139204; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758952317589523GA22:g.17589523G>A-
NM_014339.6(IL17RA):c.1426G>A (p.Gly476Arg)23765IL17RAUncertain significancers763589779RCV000653455; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758953517589535GA22:g.17589535G>AClinGen:CA10086752
NM_014339.7(IL17RA):c.1427G>A (p.Gly476Glu)23765IL17RAUncertain significance-1RCV001058961; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758953617589536GA22:g.17589536G>A-
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys)23765IL17RAUncertain significance-1RCV001141817; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758958417589584GA22:g.17589584G>A-
NM_014339.6(IL17RA):c.1486T>C (p.Phe496Leu)23765IL17RAUncertain significancers886057203RCV000322190; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758959517589595TC22:g.17589595T>CClinGen:CA10650786
NM_014339.6(IL17RA):c.1493C>T (p.Thr498Ile)23765IL17RAConflicting interpretations of pathogenicityrs41529049RCV000540309; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758960217589602CT22:g.17589602C>TClinGen:CA10086768C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.1530C>T (p.Asp510=)23765IL17RAConflicting interpretations of pathogenicityrs148319877RCV000379138|RCV000552801; NMedGen:CN239217|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758963917589639CT22:g.17589639C>TClinGen:CA10086777
NM_014339.7(IL17RA):c.1533C>T (p.Gly511=)23765IL17RAUncertain significance-1RCV001233719; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758964217589642CT22:g.17589642C>T-
NM_014339.7(IL17RA):c.1547T>C (p.Leu516Pro)23765IL17RAUncertain significance-1RCV001233651; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758965617589656TC22:g.17589656T>C-
NM_014339.6(IL17RA):c.1551C>G (p.Phe517Leu)23765IL17RAUncertain significancers769646719RCV000822767; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758966017589660CG22:g.17589660C>G-
NM_014339.6(IL17RA):c.1565G>A (p.Arg522Gln)23765IL17RAUncertain significancers372510142RCV000810791; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758967417589674GA22:g.17589674G>A-
NM_014339.6(IL17RA):c.1632G>C (p.Pro544=)23765IL17RAConflicting interpretations of pathogenicityrs550947413RCV000267763|RCV000892962; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334|MedGen:CN517202221758974117589741GC22:g.17589741G>CClinGen:CA10086803
NM_014339.7(IL17RA):c.1656G>A (p.Glu552=)23765IL17RAUncertain significance-1RCV001141818; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758976517589765GA22:g.17589765G>A-
NM_014339.6(IL17RA):c.1675C>G (p.Leu559Val)23765IL17RAUncertain significancers751753949RCV000689416; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758978417589784CG22:g.17589784C>G-C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.1689C>T (p.Gly563=)23765IL17RABenign/Likely benignrs146292661RCV000653463|RCV001091902; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334|MedGen:CN517202221758979817589798CT22:g.17589798C>TClinGen:CA10086825
NM_014339.7(IL17RA):c.1724G>A (p.Arg575Gln)23765IL17RAUncertain significance-1RCV001204180; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758983317589833GA22:g.17589833G>A-
NM_014339.6(IL17RA):c.1728C>T (p.Asp576=)23765IL17RAConflicting interpretations of pathogenicityrs767714232RCV000908527; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758983717589837CT22:g.17589837C>TClinGen:CA10086837
NM_014339.7(IL17RA):c.1735G>T (p.Val579Phe)23765IL17RAUncertain significance-1RCV001143622; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758984417589844GT22:g.17589844G>T-
NM_014339.7(IL17RA):c.1738C>T (p.Arg580Cys)23765IL17RAUncertain significance-1RCV001230132; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758984717589847CT22:g.17589847C>T-
NM_014339.7(IL17RA):c.1747G>C (p.Asp583His)23765IL17RABenignrs41432148RCV000974683; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758985617589856GC22:g.17589856G>C-
NM_014339.6(IL17RA):c.1749C>G (p.Asp583Glu)23765IL17RAUncertain significancers770168313RCV000811936; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758985817589858CG22:g.17589858C>G-
NM_014339.7(IL17RA):c.1755C>T (p.Phe585=)23765IL17RAUncertain significance-1RCV001143623; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758986417589864CT22:g.17589864C>T-
NM_014339.6(IL17RA):c.1768C>G (p.Leu590Val)23765IL17RAUncertain significancers372238432RCV000801056; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758987717589877CG22:g.17589877C>G-
NM_014339.7(IL17RA):c.1807G>T (p.Glu603Ter)23765IL17RAUncertain significance-1RCV001227989; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758991617589916GT22:g.17589916G>T-
NM_014339.7(IL17RA):c.1813G>A (p.Val605Met)23765IL17RAUncertain significance-1RCV001051521; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758992217589922GA22:g.17589922G>A-
NM_014339.6(IL17RA):c.1819G>A (p.Glu607Lys)23765IL17RABenignrs28376631RCV000653459; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758992817589928GA22:g.17589928G>AClinGen:CA10086859C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.1835C>G (p.Pro612Arg)23765IL17RAUncertain significancers1451038504RCV000824300; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758994417589944CG22:g.17589944C>G-
NM_014339.6(IL17RA):c.1864_1876del (p.Pro622fs)23765IL17RAUncertain significancers1601350285RCV000810129; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221758997017589982GGCGCCCCTGGTGCG22:g.17589970_17589982del-
NM_014339.6(IL17RA):c.1897C>G (p.Leu633Val)23765IL17RALikely benignrs200880853RCV000653460; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759000617590006CG22:g.17590006C>GClinGen:CA10086878C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1903A>G (p.Ile635Val)23765IL17RAUncertain significance-1RCV001218601; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759001217590012AG22:g.17590012A>G-
NM_014339.6(IL17RA):c.1918G>A (p.Gly640Arg)23765IL17RAUncertain significancers1221696207RCV000653451; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759002717590027GA22:g.17590027G>AClinGen:CA410219464C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1919G>A (p.Gly640Glu)23765IL17RAUncertain significance-1RCV001137050; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759002817590028GA22:g.17590028G>A-
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu)23765IL17RAUncertain significance-1RCV001137051; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759003717590037GA22:g.17590037G>A-
NM_014339.7(IL17RA):c.1931G>C (p.Gly644Ala)23765IL17RAUncertain significance-1RCV001137052; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759004017590040GC22:g.17590040G>C-
NM_014339.7(IL17RA):c.1934C>T (p.Ala645Val)23765IL17RAUncertain significance-1RCV001061183; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759004317590043CT22:g.17590043C>T-
NM_014339.6(IL17RA):c.1951G>A (p.Glu651Lys)23765IL17RAUncertain significancers753549556RCV000653454; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759006017590060GA22:g.17590060G>AClinGen:CA10086884C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1952A>C (p.Glu651Ala)23765IL17RAUncertain significance-1RCV001233035; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759006117590061AC22:g.17590061A>C-
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=)23765IL17RAUncertain significance-1RCV001137053; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759009517590095GA22:g.17590095G>A-
NM_014339.6(IL17RA):c.2038G>T (p.Ala680Ser)23765IL17RAUncertain significancers181468995RCV000337950; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759014717590147GT22:g.17590147G>TClinGen:CA10086889
NM_014339.7(IL17RA):c.2076C>T (p.Val692=)23765IL17RALikely benignrs529543548RCV000911219; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759018517590185CT22:g.17590185C>T-
NM_014339.6(IL17RA):c.2077C>T (p.Arg693Trp)23765IL17RAUncertain significancers767291636RCV000653452; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759018617590186CT22:g.17590186C>TClinGen:CA10086897C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2084C>T (p.Ala695Val)23765IL17RAUncertain significance-1RCV001043404; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759019317590193CT22:g.17590193C>T-
NM_014339.6(IL17RA):c.2086C>A (p.Leu696Met)23765IL17RAUncertain significancers886057204RCV000818166; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759019517590195CA22:g.17590195C>AClinGen:CA10653142
NM_014339.6(IL17RA):c.2087T>G (p.Leu696Arg)23765IL17RAUncertain significancers753376068RCV000653450; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759019617590196TG22:g.17590196T>GClinGen:CA10086901C3151402 613953 Immunodeficiency 51;
NM_014339.6(IL17RA):c.2111C>T (p.Pro704Leu)23765IL17RAUncertain significancers747597787RCV000804903; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759022017590220CT22:g.17590220C>T-
NM_014339.7(IL17RA):c.2126C>T (p.Pro709Leu)23765IL17RAUncertain significance-1RCV001247819; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759023517590235CT22:g.17590235C>T-
NM_014339.6(IL17RA):c.2128G>A (p.Gly710Ser)23765IL17RAUncertain significancers1223546319RCV000704154; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759023717590237GA22:g.17590237G>A-C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2131G>A (p.Ala711Thr)23765IL17RAUncertain significance-1RCV001054874; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759024017590240GA22:g.17590240G>A-
NM_014339.6(IL17RA):c.2144G>A (p.Ser715Asn)23765IL17RAUncertain significancers747892404RCV000696236; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759025317590253GA22:g.17590253G>A-C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2161G>A (p.Val721Met)23765IL17RAUncertain significance-1RCV001064076; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759027017590270GA22:g.17590270G>A-
NM_014339.7(IL17RA):c.2165A>G (p.Asp722Gly)23765IL17RAUncertain significance-1RCV001205106; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759027417590274AG22:g.17590274A>G-
NM_014339.7(IL17RA):c.2176T>G (p.Ser726Ala)23765IL17RAUncertain significance-1RCV001214639; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759028517590285TG22:g.17590285T>G-
NM_014339.6(IL17RA):c.2177C>T (p.Ser726Leu)23765IL17RAUncertain significancers756332306RCV000693665; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759028617590286CT22:g.17590286C>TClinGen:CA10086928CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2178G>T (p.Ser726=)23765IL17RAUncertain significance-1RCV001139300; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759028717590287GT22:g.17590287G>T-
NM_014339.7(IL17RA):c.2194del (p.Thr732fs)23765IL17RAUncertain significance-1RCV001209049; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759030317590303CAC22:g.17590303_17590303del-
NM_014339.6(IL17RA):c.2198C>G (p.Pro733Arg)23765IL17RAUncertain significancers41358047RCV000653448; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759030717590307CG22:g.17590307C>GClinGen:CA10086933C3151402 613953 Immunodeficiency 51;
NM_001289905.1(IL17RA):c.2112_2114CCT[1] (p.Leu706del)23765IL17RAUncertain significancers759229877RCV000797040; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759032317590325ACCTA22:g.17590323_17590325del-
NM_014339.6(IL17RA):c.2221C>A (p.Pro741Thr)23765IL17RAUncertain significancers1245969526RCV000821783; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759033017590330CA22:g.17590330C>A-
NM_014339.6(IL17RA):c.2239C>A (p.His747Asn)23765IL17RAUncertain significancers753883526RCV000653453; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759034817590348CA22:g.17590348C>AClinGen:CA410221447C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2242C>T (p.Leu748Phe)23765IL17RAUncertain significance-1RCV001236354; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759035117590351CT22:g.17590351C>T-
NM_014339.6(IL17RA):c.2245G>A (p.Glu749Lys)23765IL17RAUncertain significancers779004550RCV000307280; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759035417590354GA22:g.17590354G>AClinGen:CA10086951CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2264T>C (p.Leu755Pro)23765IL17RALikely benignrs574409116RCV000967720; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759037317590373TC22:g.17590373T>C-
NM_014339.6(IL17RA):c.2268C>T (p.Phe756=)23765IL17RALikely benignrs113571926RCV000546045; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759037717590377CT22:g.17590377C>TClinGen:CA10086956
NM_014339.7(IL17RA):c.2268C>A (p.Phe756Leu)23765IL17RAUncertain significance-1RCV001234732; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759037717590377CA22:g.17590377C>A-
NM_014339.7(IL17RA):c.2274G>C (p.Gln758His)23765IL17RAUncertain significance-1RCV001218432; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759038317590383GC22:g.17590383G>C-
NM_014339.6(IL17RA):c.2295G>A (p.Gln765=)23765IL17RABenignrs41482444RCV000557593; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759040417590404GA22:g.17590404G>AClinGen:CA10086962CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2296G>A (p.Gly766Arg)23765IL17RAUncertain significance-1RCV001035310; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759040517590405GA22:g.17590405G>A-
NM_014339.7(IL17RA):c.2300G>A (p.Gly767Asp)23765IL17RAUncertain significance-1RCV001063944; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759040917590409GA22:g.17590409G>A-
NM_014339.7(IL17RA):c.2317A>G (p.Met773Val)23765IL17RAUncertain significance-1RCV001215516; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759042617590426AG22:g.17590426A>G-
NM_014339.7(IL17RA):c.2318T>C (p.Met773Thr)23765IL17RAUncertain significance-1RCV001223163; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759042717590427TC22:g.17590427T>C-
NM_014339.6(IL17RA):c.2332C>T (p.Pro778Ser)23765IL17RAUncertain significancers147554210RCV000653444; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759044117590441CT22:g.17590441C>TClinGen:CA10086972C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2389A>G (p.Ile797Val)23765IL17RABenignrs74827998RCV000908815; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759049817590498AG22:g.17590498A>G-
NM_014339.6(IL17RA):c.2406G>A (p.Pro802=)23765IL17RABenignrs41356751RCV000529088; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759051517590515GA22:g.17590515G>AClinGen:CA10086983
NM_014339.7(IL17RA):c.2409G>C (p.Gln803His)23765IL17RAUncertain significance-1RCV001052138; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759051817590518GC22:g.17590518G>C-
NM_014339.7(IL17RA):c.2431_2439del (p.Met811_Glu813del)23765IL17RAUncertain significance-1RCV001209388; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759053617590544CGGAAATGGAC22:g.17590536_17590544del-
NM_014339.6(IL17RA):c.2428G>A (p.Glu810Lys)23765IL17RAUncertain significancers1601351180RCV000795140; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759053717590537GA22:g.17590537G>A-
NM_014339.7(IL17RA):c.2437_2445GAAGAGGAG[1] (p.Glu816_Glu818del)23765IL17RALikely benignrs551742239RCV000546398; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759054217590550TGGAGGAAGAT22:g.17590542_17590550delClinGen:CA10086990
NM_014339.6(IL17RA):c.2440G>A (p.Glu814Lys)23765IL17RAUncertain significancers758565677RCV000823573; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759054917590549GA22:g.17590549G>A-
NM_014339.6(IL17RA):c.2466G>A (p.Gly822=)23765IL17RAConflicting interpretations of pathogenicityrs373070776RCV000898296; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759057517590575GA22:g.17590575G>AClinGen:CA10086997CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.2476C>G (p.Leu826Val)23765IL17RAUncertain significancers1568924494RCV000693207; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759058517590585CG22:g.17590585C>G-
NM_014339.6(IL17RA):c.2483T>A (p.Leu828His)23765IL17RAUncertain significancers373598318RCV000811821; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759059217590592TA22:g.17590592T>A-
NM_014339.7(IL17RA):c.2486C>T (p.Ser829Phe)23765IL17RAUncertain significance-1RCV001064312; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759059517590595CT22:g.17590595C>T-
NM_014339.6(IL17RA):c.2490C>T (p.Pro830=)23765IL17RABenign/Likely benignrs3804060RCV000310633|RCV000558804; NMedGen:CN239217|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759059917590599CT22:g.17590599C>TClinGen:CA10087003CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2522G>A (p.Arg841Gln)23765IL17RAUncertain significance-1RCV001040185; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759063117590631GA22:g.17590631G>A-
NM_014339.7(IL17RA):c.2541G>A (p.Gln847=)23765IL17RALikely benignrs372715033RCV000914889; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759065017590650GA22:g.17590650G>A-
NM_014339.6(IL17RA):c.2553C>A (p.Asn851Lys)23765IL17RAUncertain significancers1281144372RCV000692392; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759066217590662CA22:g.17590662C>A-C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2587G>A (p.Gly863Arg)23765IL17RAUncertain significance-1RCV001070418; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759069617590696GA22:g.17590696G>A-
NM_014339.7(IL17RA):c.2596G>A (p.Ala866Thr)23765IL17RAUncertain significance-1RCV001245695; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759070517590705GA22:g.17590705G>A-
NM_014339.6(IL17RA):c.*58G>A23765IL17RAUncertain significancers886057205RCV000266278; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759076817590768GA22:g.17590768G>AClinGen:CA10644980CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*211A>G23765IL17RAUncertain significancers886057207RCV000259832; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759092117590921AG22:g.17590921A>GClinGen:CA10653770CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*238G>C23765IL17RABenignrs143922111RCV000317376; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759094817590948GC22:g.17590948G>CClinGen:CA10653771CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*249A>C23765IL17RABenignrs5994164RCV000374421; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759095917590959AC22:g.17590959A>CClinGen:CA10653772CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*320A>G23765IL17RALikely benign-1RCV001137171; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759103017591030AG22:g.17591030A>G-
NM_014339.6(IL17RA):c.*352G>A23765IL17RAUncertain significancers754263270RCV000263454; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759106217591062GA22:g.17591062G>AClinGen:CA10653143
NM_014339.7(IL17RA):c.*399C>T23765IL17RALikely benign-1RCV001137172; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759110917591109CT22:g.17591109C>T-
NM_014339.6(IL17RA):c.*414A>G23765IL17RAUncertain significancers886057208RCV000387203; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759112417591124AG22:g.17591124A>GClinGen:CA10644981CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*494A>G23765IL17RAUncertain significance-1RCV001139410; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759120417591204AG22:g.17591204A>G-
NM_014339.7(IL17RA):c.*626C>T23765IL17RAUncertain significance-1RCV001139411; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759133617591336CT22:g.17591336C>T-
NM_014339.7(IL17RA):c.*627G>A23765IL17RAUncertain significance-1RCV001139412; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759133717591337GA22:g.17591337G>A-
NM_014339.7(IL17RA):c.*643A>T23765IL17RAUncertain significance-1RCV001139413; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759135317591353AT22:g.17591353A>T-
NM_014339.7(IL17RA):c.*665G>A23765IL17RAUncertain significance-1RCV001142038; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759137517591375GA22:g.17591375G>A-
NM_014339.7(IL17RA):c.*803G>A23765IL17RABenign-1RCV001142039; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759151317591513GA22:g.17591513G>A-
NM_014339.6(IL17RA):c.*821C>T23765IL17RAUncertain significancers181804525RCV000341264; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759153117591531CT22:g.17591531C>TClinGen:CA10653148
NM_014339.7(IL17RA):c.*832G>T23765IL17RAUncertain significance-1RCV001142040; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759154217591542GT22:g.17591542G>T-
NM_014339.7(IL17RA):c.*900G>A23765IL17RAUncertain significance-1RCV001142041; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759161017591610GA22:g.17591610G>A-
NM_014339.6(IL17RA):c.*973A>G23765IL17RAUncertain significancers747949566RCV000394590; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759168317591683AG22:g.17591683A>GClinGen:CA10650800
NM_014339.6(IL17RA):c.*1066C>T23765IL17RAUncertain significancers75870648RCV000261923; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759177617591776CT22:g.17591776C>TClinGen:CA10653790
NM_014339.7(IL17RA):c.*1067G>T23765IL17RAUncertain significance-1RCV001143843; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759177717591777GT22:g.17591777G>T-
NM_014339.7(IL17RA):c.*1077C>T23765IL17RAUncertain significance-1RCV001143844; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759178717591787CT22:g.17591787C>T-
NM_014339.7(IL17RA):c.*1085A>C23765IL17RAUncertain significance-1RCV001143845; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759179517591795AC22:g.17591795A>C-
NM_014339.6(IL17RA):c.*1090G>C23765IL17RAUncertain significancers886057214RCV000367072; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759180017591800GC22:g.17591800G>CClinGen:CA10653153
NM_014339.6(IL17RA):c.*1093T>C23765IL17RAUncertain significancers886057215RCV000275018; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759180317591803TC22:g.17591803T>CClinGen:CA10644987
NM_014339.7(IL17RA):c.*1161T>G23765IL17RAUncertain significance-1RCV001137280; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759187117591871TG22:g.17591871T>G-
NM_014339.7(IL17RA):c.*1194C>T23765IL17RAUncertain significance-1RCV001137281; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759190417591904CT22:g.17591904C>T-
NM_014339.6(IL17RA):c.*1320A>G23765IL17RAUncertain significancers886057216RCV000269177; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759203017592030AG22:g.17592030A>GClinGen:CA10653791
NM_014339.7(IL17RA):c.*1338G>A23765IL17RALikely benign-1RCV001139530; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759204817592048GA22:g.17592048G>A-
NM_014339.7(IL17RA):c.*1373C>T23765IL17RAUncertain significance-1RCV001139531; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759208317592083CT22:g.17592083C>T-
NM_014339.6(IL17RA):c.*1379A>T23765IL17RABenignrs5992627RCV000326689; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759208917592089AT22:g.17592089A>TClinGen:CA10653154
NM_014339.6(IL17RA):c.*1431A>G23765IL17RAUncertain significancers886057217RCV000383566; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759214117592141AG22:g.17592141A>GClinGen:CA10653792
NM_014339.6(IL17RA):c.*1480G>A23765IL17RAUncertain significancers182884770RCV000291647; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759219017592190GA22:g.17592190G>AClinGen:CA10653797
NM_014339.7(IL17RA):c.*1526G>A23765IL17RAUncertain significance-1RCV001140295; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759223617592236GA22:g.17592236G>A-
NM_014339.6(IL17RA):c.*1641C>T23765IL17RAUncertain significancers886057218RCV000320956; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759235117592351CT22:g.17592351C>TClinGen:CA10650802
NM_014339.6(IL17RA):c.*1686G>A23765IL17RALikely benignrs144428545RCV000377950; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759239617592396GA22:g.17592396G>AClinGen:CA10650806
NM_014339.6(IL17RA):c.*1826A>G23765IL17RAUncertain significancers886057219RCV000279596; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759253617592536AG22:g.17592536A>GClinGen:CA10653155
NM_014339.6(IL17RA):c.*1861G>A23765IL17RAUncertain significancers886057220RCV000334629; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759257117592571GA22:g.17592571G>AClinGen:CA10644990
NM_014339.6(IL17RA):c.*2066G>C23765IL17RABenignrs375958748RCV000404661; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759277617592776GC22:g.17592776G>CClinGen:CA10653156
NM_014339.7(IL17RA):c.*2111C>T23765IL17RABenign-1RCV001142130; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759282117592821CT22:g.17592821C>T-
NM_014339.7(IL17RA):c.*2112C>T23765IL17RABenign-1RCV001142131; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759282217592822CT22:g.17592822C>T-
NM_014339.7(IL17RA):c.*2128A>G23765IL17RAUncertain significance-1RCV001142132; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759283817592838AG22:g.17592838A>G-
NM_014339.6(IL17RA):c.*2141C>T23765IL17RAUncertain significancers550573977RCV000340346; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759285117592851CT22:g.17592851C>TClinGen:CA10653158
NM_014339.6(IL17RA):c.*2163G>C23765IL17RABenignrs543545127RCV000397750; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759287317592873GC22:g.17592873G>CClinGen:CA10653159
NM_014339.7(IL17RA):c.*2291C>T23765IL17RAUncertain significance-1RCV001137396; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759300117593001CT22:g.17593001C>T-
NM_014339.7(IL17RA):c.*2329G>A23765IL17RAUncertain significance-1RCV001137397; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759303917593039GA22:g.17593039G>A-
NM_014339.7(IL17RA):c.*2344C>G23765IL17RAUncertain significance-1RCV001137398; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759305417593054CG22:g.17593054C>G-
NM_014339.6(IL17RA):c.*2512C>A23765IL17RAUncertain significancers539337199RCV000330543; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759322217593222CA22:g.17593222C>AClinGen:CA10653801CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*2566C>T23765IL17RAUncertain significancers886057221RCV000357322; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759327617593276CT22:g.17593276C>TClinGen:CA10653160CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*2591C>T23765IL17RAUncertain significancers775318044RCV000317846; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759330117593301CT22:g.17593301C>TClinGen:CA10645002CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2603C>T23765IL17RALikely benign-1RCV001139632; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759331317593313CT22:g.17593313C>T-
NM_014339.6(IL17RA):c.*2703G>A23765IL17RAUncertain significancers189556719RCV000287386; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759341317593413GA22:g.17593413G>AClinGen:CA10653161CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*2844A>G23765IL17RAUncertain significancers144892452RCV000347726; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759355417593554AG22:g.17593554A>GClinGen:CA10645009CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*2859C>T23765IL17RAUncertain significancers562668645RCV000404798; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759356917593569CT22:g.17593569C>TClinGen:CA10650811CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*2963C>T23765IL17RAUncertain significancers886057224RCV000289590; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759367317593673CT22:g.17593673C>TClinGen:CA10653163CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2986G>A23765IL17RAUncertain significance-1RCV001140394; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759369617593696GA22:g.17593696G>A-
NM_014339.7(IL17RA):c.*3024G>A23765IL17RAUncertain significance-1RCV001142251; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759373417593734GA22:g.17593734G>A-
NM_014339.7(IL17RA):c.*3058G>C23765IL17RAUncertain significance-1RCV001142252; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759376817593768GC22:g.17593768G>C-
NM_014339.6(IL17RA):c.*3060A>G23765IL17RABenignrs12157837RCV000405443; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759377017593770AG22:g.17593770A>GClinGen:CA10650814CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3071A>G23765IL17RAUncertain significance-1RCV001142253; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759378117593781AG22:g.17593781A>G-
NM_014339.7(IL17RA):c.*3093T>C23765IL17RAUncertain significance-1RCV001142254; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759380317593803TC22:g.17593803T>C-
NM_014339.7(IL17RA):c.*3127G>A23765IL17RAUncertain significance-1RCV001142255; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759383717593837GA22:g.17593837G>A-
NM_014339.7(IL17RA):c.*3175T>C23765IL17RAUncertain significance-1RCV001137513; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759388517593885TC22:g.17593885T>C-
NM_014339.6(IL17RA):c.*3187T>G23765IL17RALikely benignrs536506632RCV000376436; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759389717593897TG22:g.17593897T>GClinGen:CA10653806
NM_014339.6(IL17RA):c.*3523C>T23765IL17RAUncertain significancers886057230RCV000352282; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759423317594233CT22:g.17594233C>TClinGen:CA10653820
NM_014339.7(IL17RA):c.*3533C>T23765IL17RAUncertain significance-1RCV001139721; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759424317594243CT22:g.17594243C>T-
NM_014339.7(IL17RA):c.*3617T>C23765IL17RAUncertain significance-1RCV001139722; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759432717594327TC22:g.17594327T>C-
NM_014339.7(IL17RA):c.*3624G>A23765IL17RABenign-1RCV001139723; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759433417594334GA22:g.17594334G>A-
NM_014339.6(IL17RA):c.*3667C>T23765IL17RAUncertain significancers886057231RCV000292732; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759437717594377CT22:g.17594377C>TClinGen:CA10650819
NM_014339.7(IL17RA):c.*3708G>A23765IL17RAUncertain significance-1RCV001140499; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759441817594418GA22:g.17594418G>A-
NM_014339.7(IL17RA):c.*3708G>T23765IL17RAUncertain significance-1RCV001140500; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759441817594418GT22:g.17594418G>T-
NM_014339.6(IL17RA):c.*3734C>A23765IL17RAUncertain significancers768197387RCV000338410; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759444417594444CA22:g.17594444C>AClinGen:CA10645020
NM_014339.7(IL17RA):c.*3734C>T23765IL17RAUncertain significance-1RCV001140501; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759444417594444CT22:g.17594444C>T-
NM_014339.7(IL17RA):c.*3823C>G23765IL17RAUncertain significance-1RCV001142346; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759453317594533CG22:g.17594533C>G-
NM_014339.6(IL17RA):c.*3837C>G23765IL17RAUncertain significancers886057232RCV000334700; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759454717594547CG22:g.17594547C>GClinGen:CA10645021
NM_014339.6(IL17RA):c.*3865C>T23765IL17RAUncertain significancers559104346RCV000393445; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759457517594575CT22:g.17594575C>TClinGen:CA10653823
NM_014339.7(IL17RA):c.*3869G>A23765IL17RAUncertain significance-1RCV001142347; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759457917594579GA22:g.17594579G>A-
NM_014339.6(IL17RA):c.*3913C>G23765IL17RAUncertain significancers11702918RCV000304211; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759462317594623CG22:g.17594623C>GClinGen:CA10645022
NM_014339.7(IL17RA):c.*3943G>A23765IL17RAUncertain significance-1RCV001137602; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759465317594653GA22:g.17594653G>A-
NM_014339.6(IL17RA):c.*3969G>T23765IL17RAUncertain significancers886057233RCV000309913; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759467917594679GT22:g.17594679G>TClinGen:CA10653824
NM_014339.7(IL17RA):c.*3975G>T23765IL17RAUncertain significance-1RCV001137603; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759468517594685GT22:g.17594685G>T-
NM_014339.6(IL17RA):c.*3976G>A23765IL17RABenignrs576803215RCV000364706; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759468617594686GA22:g.17594686G>AClinGen:CA10653177CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4002C>T23765IL17RAUncertain significance-1RCV001139827; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759471217594712CT22:g.17594712C>T-
NM_014339.7(IL17RA):c.*4003G>T23765IL17RALikely benign-1RCV001139828; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759471317594713GT22:g.17594713G>T-
NM_014339.6(IL17RA):c.*4004C>T23765IL17RALikely benignrs150231194RCV000388847; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759471417594714CT22:g.17594714C>TClinGen:CA10653180CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*4056A>T23765IL17RAUncertain significancers779043954RCV000330921; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759476617594766AT22:g.17594766A>TClinGen:CA10653828CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4124G>T23765IL17RALikely benign-1RCV001140607; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759483417594834GT22:g.17594834G>T-
NM_014339.7(IL17RA):c.*4197A>G23765IL17RALikely benign-1RCV001140608; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759490717594907AG22:g.17594907A>G-
NM_014339.7(IL17RA):c.*4239A>G23765IL17RAUncertain significance-1RCV001142470; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759494917594949AG22:g.17594949A>G-
NM_014339.7(IL17RA):c.*4352A>G23765IL17RAUncertain significance-1RCV001142471; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759506217595062AG22:g.17595062A>G-
NM_014339.6(IL17RA):c.*4359T>C23765IL17RAUncertain significancers573003907RCV000279114; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759506917595069TC22:g.17595069T>CClinGen:CA10645029CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4404C>T23765IL17RAUncertain significance-1RCV001142472; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759511417595114CT22:g.17595114C>T-
NM_014339.6(IL17RA):c.*4509A>G23765IL17RAUncertain significancers886057234RCV000303871; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759521917595219AG22:g.17595219A>GClinGen:CA10645037CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*4516C>T23765IL17RAUncertain significancers180834857RCV000339543; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759522617595226CT22:g.17595226C>TClinGen:CA10645038CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*4649G>T23765IL17RAUncertain significancers886057235RCV000405039; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759535917595359GT22:g.17595359G>TClinGen:CA10645039CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4667A>G23765IL17RAUncertain significance-1RCV001137722; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759537717595377AG22:g.17595377A>G-
NM_014339.7(IL17RA):c.*4791C>T23765IL17RAUncertain significance-1RCV001139944; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759550117595501CT22:g.17595501C>T-
NM_014339.7(IL17RA):c.*4798C>T23765IL17RAUncertain significance-1RCV001139945; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759550817595508CT22:g.17595508C>T-
NM_014339.6(IL17RA):c.*4827A>G23765IL17RAUncertain significancers886057238RCV000315418; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759553717595537AG22:g.17595537A>GClinGen:CA10653185CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.*4849C>G23765IL17RAUncertain significancers886057239RCV000369979; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759555917595559CG22:g.17595559C>GClinGen:CA10645043CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4878G>C23765IL17RAUncertain significance-1RCV001139946; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759558817595588GC22:g.17595588G>C-
NM_014339.7(IL17RA):c.*4947G>A23765IL17RAUncertain significance-1RCV001139947; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759565717595657GA22:g.17595657G>A-
NM_014339.6(IL17RA):c.*5036C>T23765IL17RABenignrs1003945RCV000319246; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759574617595746CT22:g.17595746C>TClinGen:CA10653187
NM_014339.7(IL17RA):c.*5038A>T23765IL17RAUncertain significance-1RCV001140705; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759574817595748AT22:g.17595748A>T-
NM_014339.6(IL17RA):c.*5050G>A23765IL17RAUncertain significancers886057240RCV000355342; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759576017595760GA22:g.17595760G>AClinGen:CA10653834
NM_014339.7(IL17RA):c.*5117G>A23765IL17RAUncertain significance-1RCV001140706; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759582717595827GA22:g.17595827G>A-
NM_014339.7(IL17RA):c.*5156A>G23765IL17RAUncertain significance-1RCV001140707; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759586617595866AG22:g.17595866A>G-
NM_014339.6(IL17RA):c.*5164C>T23765IL17RAUncertain significancers754485568RCV000315858; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759587417595874CT22:g.17595874C>TClinGen:CA10650840
NM_014339.6(IL17RA):c.*5256C>T23765IL17RABenignrs1003944RCV000321603; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759596617595966CT22:g.17595966C>TClinGen:CA10650841
NM_014339.6(IL17RA):c.*5270C>T23765IL17RABenignrs1003943RCV000376206; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759598017595980CT22:g.17595980C>TClinGen:CA10653838
NM_014339.6(IL17RA):c.*5480T>A23765IL17RAUncertain significancers556640863RCV000403044; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759619017596190TA22:g.17596190T>AClinGen:CA10653188
NM_014339.6(IL17RA):c.*5659G>A23765IL17RABenignrs7289055RCV000406661; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759636917596369GA22:g.17596369G>AClinGen:CA10653840
NM_014339.7(IL17RA):c.*5660G>A23765IL17RAUncertain significance-1RCV001140069; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759637017596370GA22:g.17596370G>A-
NM_014339.6(IL17RA):c.*5677C>A23765IL17RALikely benignrs559845151RCV000312588; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759638717596387CA22:g.17596387C>AClinGen:CA10653189
NM_014339.6(IL17RA):c.*5778A>G23765IL17RAUncertain significancers886057242RCV000322961; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759648817596488AG22:g.17596488A>GClinGen:CA10653842
NM_014339.7(IL17RA):c.*5797A>C23765IL17RAUncertain significance-1RCV001140832; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759650717596507AC22:g.17596507A>C-
NM_014339.6(IL17RA):c.*5855A>G23765IL17RAUncertain significancers886057243RCV000264335; NMONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334221759656517596565AG22:g.17596565A>GClinGen:CA10653844CN239217 Familial Candidiasis, Recessive;
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