MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Immunologic Deficiency Syndromes (D007153)
..Starting node ..IMMUNODEFICIENCY 51 (OMIM:613953)
Child Nodes:
Sister Nodes:
..Activated PI3K-delta Syndrome (C585640)
..Agammaglobulinemia (D000361) 19
..Antibody Deficiency due to Defect in CD19 (C566275)
..Ataxia Telangiectasia (D001260) 6
..AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..C1q DEFICIENCY (OMIM:613652)
..C9 Deficiency (C565165)
..C9 Deficiency with Dermatomyositis (C565166)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Cd4+ Lymphocyte Deficiency (C566079)
..CD8 Deficiency, Familial (C563824)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Combined Inflammatory and Immunologic Defect (C565684)
..Common Variable Immunodeficiency (D017074)
..COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..Complement Component 3 Deficiency, Autosomal Recessive (C565169)
..Complement Component 4, Partial Deficiency Of (C565168)
..Complement Component 4a Deficiency (C565167)
..COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..Complement component 5 deficiency (C537005)
..Complement Component 6 Deficiency (C567307)
..Complement Component 7 Deficiency (C566443)
..COMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..Complement Component C1s Deficiency (C565170)
..COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..Complement Factor D Deficiency (C565027)
..Davenport Donlan syndrome (C535988)
..Deltaretrovirus Infections (D006800) 4
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dysgammaglobulinemia (D004406) 11
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Endotoxin Hyporesponsiveness (C566417)
..Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..Fanconi like syndrome (C536855)
..FICOLIN 3 DEFICIENCY (OMIM:613860)
..Griscelli syndrome type 2 (C537302)
..Hepatic venoocclusive disease with immunodeficiency (C537257)
..HIV Infections (D015658) 12
..Hypoglobulinemia and Absent B Cells (C565765)
..Immune Deficiency Disease (C565469)
..Immune Deficiency, Familial Variable (C564136)
..IMMUNODEFICIENCY 11 (OMIM:615206)
..IMMUNODEFICIENCY 12 (OMIM:615468)
..IMMUNODEFICIENCY 14 (OMIM:615513)
..IMMUNODEFICIENCY 15B (OMIM:615592)
..IMMUNODEFICIENCY 16 (OMIM:615593)
..IMMUNODEFICIENCY 17 (OMIM:615607)
..IMMUNODEFICIENCY 18 (OMIM:615615)
..IMMUNODEFICIENCY 19 (OMIM:615617)
..IMMUNODEFICIENCY 20 (OMIM:615707)
..IMMUNODEFICIENCY 21 (OMIM:614172)
..IMMUNODEFICIENCY 22 (OMIM:615758)
..IMMUNODEFICIENCY 23 (OMIM:615816)
..IMMUNODEFICIENCY 24 (OMIM:615897)
..IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..IMMUNODEFICIENCY 27B (OMIM:615978)
..IMMUNODEFICIENCY 28 (OMIM:614889)
..IMMUNODEFICIENCY 29 (OMIM:614890)
..IMMUNODEFICIENCY 30 (OMIM:614891)
..IMMUNODEFICIENCY 31A (OMIM:614892)
..IMMUNODEFICIENCY 31B (OMIM:613796)
..IMMUNODEFICIENCY 31C (OMIM:614162)
..IMMUNODEFICIENCY 32A (OMIM:614893)
..IMMUNODEFICIENCY 32B (OMIM:226990)
..IMMUNODEFICIENCY 36 (OMIM:616005)
..IMMUNODEFICIENCY 37 (OMIM:616098)
..IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..IMMUNODEFICIENCY 39 (OMIM:616345)
..IMMUNODEFICIENCY 40 (OMIM:616433)
..IMMUNODEFICIENCY 42 (OMIM:616622)
..IMMUNODEFICIENCY 44 (OMIM:616636)
..IMMUNODEFICIENCY 45 (OMIM:616669)
..IMMUNODEFICIENCY 46 (OMIM:616740)
..IMMUNODEFICIENCY 47 (OMIM:300972)
..IMMUNODEFICIENCY 48 (OMIM:269840)
..IMMUNODEFICIENCY 49 (OMIM:617237)
..IMMUNODEFICIENCY 50 (OMIM:300988)
..IMMUNODEFICIENCY 51 (OMIM:613953)
..IMMUNODEFICIENCY 54 (OMIM:609981)
..IMMUNODEFICIENCY 56 (OMIM:615207)
..IMMUNODEFICIENCY 8 (OMIM:615401)
..Immunodeficiency due to Defect in CD3-Epsilon (C566082)
..Immunodeficiency due to Defect in CD3-Gamma (C566083)
..Immunodeficiency due to Defect in CD3-Zeta (C565712)
..Immunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..Immunodeficiency syndrome, variable (C537362) 1
..Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..Immunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..Inosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..Interleukin 2 Receptor, Alpha, Deficiency of (C565232)
..Invasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..Invasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..IRAK4 Deficiency (C564352)
..Kappa-Chain Deficiency (C564131)
..Kotzot-Richter syndrome (C537025)
..Leukocyte-Adhesion Deficiency Syndrome (D018370) 2
..Lichtenstein syndrome (C535894)
..LIG4 Syndrome (C564694)
..LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..Lymphoblastic Transformation, Intrinsic Defect in (C565431)
..Lymphoid System Deterioration, Progressive (C565430)
..Lymphokine Deficiency (C565428)
..Lymphopenia (D008231) 5
..Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..MASP2 Deficiency (C565360)
..MYD88 Deficiency (C567379)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Natural Killer Cell Deficiency, Familial Isolated (C566492)
..NEMO mutation with immunodeficiency (C538399)
..Neutrophil Immunodeficiency Syndrome (C564275)
..Phagocyte Bactericidal Dysfunction (D010585) 14
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Riddle Syndrome (C567453)
..Roifman syndrome (C535866)
..Roifman-Chitayat Syndrome (C567641)
..Schimke immunoosseous dysplasia (C536629)
..Severe Combined Immunodeficiency (D016511) 22 C:1
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..Splenic Hypoplasia (C563028)
..T cell immunodeficiency primary (C536780)
..T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..T-Cell OKT4 Deficiency (C566080)
..T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..Thymic aplasia (C536288)
..Tuftsin Deficiency (C562872)
..WHIM 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 :
Genes: IL17RA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002728	Chronic mucocutaneous candidiasis
3	HP:0002205	Recurrent respiratory infections	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_014339.6(IL17RA):c.-126C>G	23765	IL17RA	Benign	562165706	RCV000361820;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565856	17565856	NC_000022.10:g.17565856C>G	ClinGen:CA10653757	CN239217 Familial Candidiasis, Recessive;
NM_014339.6(IL17RA):c.-95G>C	23765	IL17RA	Uncertain significance	529290465	RCV000267703;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565887	17565887	NC_000022.10:g.17565887G>C	ClinGen:CA10653758	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.-42G>A	23765	IL17RA	Uncertain significance	551693587	RCV000261630;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565940	17565940	NC_000022.10:g.17565940G>A	ClinGen:CA10086196	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.-39C>T	23765	IL17RA	Uncertain significance	775719038	RCV000319181;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565943	17565943	NC_000022.10:g.17565943C>T	ClinGen:CA10086197	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.-33C>G	23765	IL17RA	Benign	41525344	RCV001136745;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565949	17565949	22:g.17565949C>G	-
NM_014339.7(IL17RA):c.-27C>G	23765	IL17RA	Uncertain significance	886057199	RCV000385295;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565955	17565955	NC_000022.10:g.17565955C>G	ClinGen:CA10653130	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.-23C>A	23765	IL17RA	Uncertain significance	537206064	RCV001138982;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565959	17565959	22:g.17565959C>A	-
NM_014339.7(IL17RA):c.-8G>C	23765	IL17RA	Benign	917865	RCV000293416\|RCV000454833\|RCV001730672;	N	MedGen:CN239217\|MedGen:CN169374\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565974	17565974	NC_000022.10:g.17565974G>C	ClinGen:CA10086203	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.8C>T (p.Ala3Val)	23765	IL17RA	Uncertain significance	567320041	RCV000799938;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565989	17565989	22:g.17565989C>T	-
NM_014339.7(IL17RA):c.9C>A (p.Ala3=)	23765	IL17RA	Likely benign	-1	RCV002610561;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565990	17565990		-
NM_014339.7(IL17RA):c.13C>T (p.Arg5Cys)	23765	IL17RA	Uncertain significance	1351337413	RCV001912005;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565994	17565994	17565994	-
NM_014339.7(IL17RA):c.17G>A (p.Ser6Asn)	23765	IL17RA	Uncertain significance	-1	RCV003087901;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565998	17565998	NC_000022.10:g.17565998G>A	-
NM_014339.7(IL17RA):c.18C>T (p.Ser6=)	23765	IL17RA	Likely benign	988752151	RCV001409490;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565999	17565999	17565999	-
NM_014339.7(IL17RA):c.19C>T (p.Pro7Ser)	23765	IL17RA	Likely benign	534399492	RCV000886918;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566000	17566000	22:g.17566000C>T	-
NM_014339.7(IL17RA):c.20C>T (p.Pro7Leu)	23765	IL17RA	Likely benign	143652002	RCV000352789\|RCV000533617\|RCV001701860;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17566001	17566001	NC_000022.10:g.17566001C>T	ClinGen:CA10086205	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.23C>T (p.Pro8Leu)	23765	IL17RA	Uncertain significance	2123786576	RCV002034997;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566004	17566004	17566004	-
NM_014339.7(IL17RA):c.26C>T (p.Ser9Phe)	23765	IL17RA	Uncertain significance	752407403	RCV000796551;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566007	17566007	22:g.17566007C>T	-
NM_014339.7(IL17RA):c.30T>A (p.Ala10=)	23765	IL17RA	Conflicting interpretations of pathogenicity	577217331	RCV000886919;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566011	17566011	22:g.17566011T>A	-
NM_014339.7(IL17RA):c.33C>A (p.Val11=)	23765	IL17RA	Likely benign	2123786594	RCV001399919;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566014	17566014	17566014	-
NM_014339.7(IL17RA):c.36G>T (p.Pro12=)	23765	IL17RA	Conflicting interpretations of pathogenicity	886057200	RCV000381694;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566017	17566017	NC_000022.10:g.17566017G>T	ClinGen:CA10650769	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.41C>G (p.Pro14Arg)	23765	IL17RA	Uncertain significance	-1	RCV002966360;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566022	17566022	NC_000022.10:g.17566022C>G	-
NM_014339.7(IL17RA):c.52CTGCTCCTG[1] (p.Leu21_Leu23del)	23765	IL17RA	Uncertain significance	751990928	RCV001351273;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566032	17566040	17566031	-
NM_014339.7(IL17RA):c.53T>C (p.Leu18Pro)	23765	IL17RA	Uncertain significance	2061321486	RCV001325608;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566034	17566034	17566034	-
NM_014339.7(IL17RA):c.54G>A (p.Leu18=)	23765	IL17RA	Likely benign	757752753	RCV001498153;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566035	17566035	17566035	-
NM_014339.7(IL17RA):c.55C>T (p.Leu19Phe)	23765	IL17RA	Uncertain significance	1429270259	RCV002031566;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566036	17566036	17566036	-
NM_014339.7(IL17RA):c.56T>G (p.Leu19Arg)	23765	IL17RA	Uncertain significance	937902710	RCV001236340;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566037	17566037	22:g.17566037T>G	-
NM_014339.7(IL17RA):c.57C>T (p.Leu19=)	23765	IL17RA	Likely benign	1418150684	RCV002111107;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566038	17566038	17566038	-
NM_014339.7(IL17RA):c.64C>T (p.Leu22Phe)	23765	IL17RA	Uncertain significance	539782982	RCV001864037;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566045	17566045	17566045	-
NM_014339.7(IL17RA):c.70G>C (p.Gly24Arg)	23765	IL17RA	Uncertain significance	41510847	RCV000548005\|RCV002527928;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17566051	17566051	NC_000022.10:g.17566051G>C	ClinGen:CA10086214	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.72C>T (p.Gly24=)	23765	IL17RA	Likely benign	-1	RCV003076630;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566053	17566053		-
NM_014339.7(IL17RA):c.73G>C (p.Val25Leu)	23765	IL17RA	Uncertain significance	1297016157	RCV001038373;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566054	17566054	22:g.17566054G>C	-
NM_014339.7(IL17RA):c.75G>A (p.Val25=)	23765	IL17RA	Likely benign	-1	RCV003118650;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566056	17566056		-
NM_014339.7(IL17RA):c.80C>A (p.Ala27Asp)	23765	IL17RA	Uncertain significance	1490955421	RCV000803689;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566061	17566061	22:g.17566061C>A	-
NM_014339.7(IL17RA):c.81C>T (p.Ala27=)	23765	IL17RA	Likely benign	1222771166	RCV001392245;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566062	17566062	22:g.17566062C>T	-
NM_014339.7(IL17RA):c.83C>T (p.Pro28Leu)	23765	IL17RA	Uncertain significance	-1	RCV002914277;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566064	17566064	NC_000022.10:g.17566064C>T	-
NM_014339.7(IL17RA):c.84G>T (p.Pro28=)	23765	IL17RA	Likely benign	1188361528	RCV001490272;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566065	17566065	17566065	-
NM_014339.7(IL17RA):c.100C>A (p.Arg34=)	23765	IL17RA	Likely benign	1387278734	RCV001485270;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566081	17566081	17566081	-
NM_014339.7(IL17RA):c.105C>G (p.Leu35=)	23765	IL17RA	Likely benign	887188602	RCV001443983;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566086	17566086	17566086	-
NM_014339.7(IL17RA):c.106C>G (p.Leu36Val)	23765	IL17RA	Uncertain significance	2061321959	RCV001348959;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566087	17566087	17566087	-
NM_014339.7(IL17RA):c.120G>C (p.Ala40=)	23765	IL17RA	Likely benign	1476573681	RCV001501660;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566101	17566101	17566101	-
NM_014339.7(IL17RA):c.121C>G (p.Leu41Val)	23765	IL17RA	Uncertain significance	1295037189	RCV001141594;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566102	17566102	22:g.17566102C>G	-
NM_014339.7(IL17RA):c.126C>T (p.Val42=)	23765	IL17RA	Likely benign	1358015503	RCV002079235;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566107	17566107	17566107	-
NM_014339.7(IL17RA):c.133C>A (p.Gln45Lys)	23765	IL17RA	Uncertain significance	1006074686	RCV000698300\|RCV003279015;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17566114	17566114	NC_000022.10:g.17566114C>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.138G>A (p.Pro46=)	23765	IL17RA	Uncertain significance	1186749135	RCV000792386;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566119	17566119	22:g.17566119G>A	-
NM_014339.7(IL17RA):c.138+8_138+9del	23765	IL17RA	Likely benign	2123786856	RCV002216849;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566126	17566127	17566125	-
NM_014339.7(IL17RA):c.138+12C>T	23765	IL17RA	Benign	534287611	RCV000289706;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566131	17566131	NC_000022.10:g.17566131C>T	ClinGen:CA10086217	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.138+16G>A	23765	IL17RA	Likely benign	2123786879	RCV002180560;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566135	17566135	17566135	-
NM_014339.7(IL17RA):c.138+18G>C	23765	IL17RA	Likely benign	1161339186	RCV002096850;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17566137	17566137	17566137	-
NM_014339.7(IL17RA):c.139-18A>C	23765	IL17RA	Likely benign	-1	RCV002806916;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577934	17577934	NC_000022.10:g.17577934A>C	-
NM_014339.7(IL17RA):c.139-13C>G	23765	IL17RA	Likely benign	-1	RCV002994273;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577939	17577939	NC_000022.10:g.17577939C>G	-
NM_014339.7(IL17RA):c.139-6C>T	23765	IL17RA	Likely benign	2123797239	RCV002179713;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577946	17577946	17577946	-
NM_014339.7(IL17RA):c.140G>A (p.Gly47Glu)	23765	IL17RA	Uncertain significance	1156352906	RCV001960173;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577953	17577953	17577953	-
NM_014339.7(IL17RA):c.142C>A (p.Leu48Ile)	23765	IL17RA	Uncertain significance	764531960	RCV001973982;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577955	17577955	17577955	-
NM_014339.7(IL17RA):c.152C>T (p.Thr51Met)	23765	IL17RA	Conflicting interpretations of pathogenicity	143008696	RCV000653466;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577965	17577965	22:g.17577965C>T	ClinGen:CA10086230	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.153G>A (p.Thr51=)	23765	IL17RA	Likely benign	767860569	RCV001438815;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577966	17577966	17577966	-
NM_014339.7(IL17RA):c.153G>T (p.Thr51=)	23765	IL17RA	Likely benign	767860569	RCV001436882;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577966	17577966	17577966	-
NM_014339.7(IL17RA):c.162T>C (p.Asn54=)	23765	IL17RA	Uncertain significance	538846008	RCV002023174;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577975	17577975	17577975	-
NM_014339.7(IL17RA):c.163+2T>C	23765	IL17RA	Likely pathogenic	2123797291	RCV001378818;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577978	17577978	17577978	-
NM_014339.7(IL17RA):c.163+19TTC[2]	23765	IL17RA	Benign	373435632	RCV002098070;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17577995	17577997	17577994	-
NM_014339.7(IL17RA):c.164-19G>C	23765	IL17RA	Likely benign	-1	RCV002623845;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578668	17578668	NC_000022.10:g.17578668G>C	-
NM_014339.7(IL17RA):c.166_169dup (p.Cys57fs)	23765	IL17RA	Pathogenic	1601340933	RCV000804480;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578687	17578688	22:g.17578687_17578688insTACC	-
NM_014339.7(IL17RA):c.166A>G (p.Thr56Ala)	23765	IL17RA	Uncertain significance	756664595	RCV000806061;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578689	17578689	22:g.17578689A>G	-
NM_014339.7(IL17RA):c.186G>A (p.Trp62Ter)	23765	IL17RA	Pathogenic	1330723939	RCV001881672;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578709	17578709	17578709	-
NM_014339.7(IL17RA):c.196C>T (p.Arg66Ter)	23765	IL17RA	Pathogenic	1057518745	RCV000412660;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578719	17578719	22:g.17578719C>T	ClinGen:CA16042240,OMIM:605461.0004	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.199A>G (p.Asn67Asp)	23765	IL17RA	Uncertain significance	886057201	RCV000406311;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578722	17578722	22:g.17578722A>G	ClinGen:CA10653760	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.205del (p.Thr69fs)	23765	IL17RA	Pathogenic	-1	RCV002824235;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578728	17578728	NC_000022.10:g.17578728del	-
NM_014339.7(IL17RA):c.213dup (p.Ser72fs)	23765	IL17RA	Pathogenic	2123798029	RCV001885597;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578734	17578735	17578734	-
NM_014339.7(IL17RA):c.213C>T (p.Ser71=)	23765	IL17RA	Likely benign	1389165928	RCV001413660;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578736	17578736	17578736	-
NM_014339.7(IL17RA):c.220A>G (p.Lys74Glu)	23765	IL17RA	Uncertain significance	752964419	RCV000283852;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578743	17578743	22:g.17578743A>G	ClinGen:CA10086261	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.227T>C (p.Leu76Pro)	23765	IL17RA	Uncertain significance	745774811	RCV001230468;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578750	17578750	22:g.17578750T>C	-
NM_014339.7(IL17RA):c.228G>A (p.Leu76=)	23765	IL17RA	Likely benign	1568918593	RCV001437935;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578751	17578751	17578751	-
NM_014339.7(IL17RA):c.233del (p.Ile78fs)	23765	IL17RA	Pathogenic	1321690789	RCV001063413;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578756	17578756	22:g.17578756_17578756del	-
NM_014339.7(IL17RA):c.247G>A (p.Ala83Thr)	23765	IL17RA	Uncertain significance	201996921	RCV001864946;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578770	17578770	17578770	-
NM_014339.7(IL17RA):c.250C>G (p.His84Asp)	23765	IL17RA	Uncertain significance	772083135	RCV001324906;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578773	17578773	17578773	-
NM_014339.7(IL17RA):c.251A>G (p.His84Arg)	23765	IL17RA	Uncertain significance	773666876	RCV001906118;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578774	17578774	17578774	-
NM_014339.7(IL17RA):c.256C>A (p.Gln86Lys)	23765	IL17RA	Uncertain significance	-1	RCV002922483;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578779	17578779	NC_000022.10:g.17578779C>A	-
NM_014339.7(IL17RA):c.268del (p.Leu90fs)	23765	IL17RA	Pathogenic	1057518746	RCV000412553;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578790	17578790	22:g.17578790_17578790del	ClinGen:CA16042241,OMIM:605461.0005	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.276C>T (p.Pro92=)	23765	IL17RA	Likely benign	-1	RCV003082927;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578799	17578799		-
NM_014339.7(IL17RA):c.277G>A (p.Val93Met)	23765	IL17RA	Uncertain significance	147495146	RCV000815506;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578800	17578800	22:g.17578800G>A	-
NM_014339.7(IL17RA):c.281C>T (p.Ala94Val)	23765	IL17RA	Uncertain significance	755993710	RCV001963953;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578804	17578804	17578804	-
NM_014339.7(IL17RA):c.289G>A (p.Glu97Lys)	23765	IL17RA	Uncertain significance	749306401	RCV000795861\|RCV002537012;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17578812	17578812	22:g.17578812G>A	-
NM_014339.7(IL17RA):c.297A>G (p.Thr99=)	23765	IL17RA	Likely benign	-1	RCV002574654;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578820	17578820		-
NM_014339.7(IL17RA):c.310+2T>C	23765	IL17RA	Likely pathogenic	201128237	RCV000701763;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578835	17578835	NC_000022.10:g.17578835T>C	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.310+3G>A	23765	IL17RA	Uncertain significance	771719685	RCV001067118;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578836	17578836	22:g.17578836G>A	-
NM_014339.7(IL17RA):c.310+9G>T	23765	IL17RA	Likely benign	199640693	RCV002201884;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578842	17578842	17578842	-
NM_014339.7(IL17RA):c.310+20G>A	23765	IL17RA	Likely benign	-1	RCV003054957;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17578853	17578853	NC_000022.10:g.17578853G>A	-
NM_014339.7(IL17RA):c.311-20C>G	23765	IL17RA	Likely benign	1302696965	RCV002072718;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579645	17579645	17579645	-
NM_014339.7(IL17RA):c.311-18C>A	23765	IL17RA	Likely benign	371831623	RCV002105525;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579647	17579647	17579647	-
NM_014339.7(IL17RA):c.311-10T>A	23765	IL17RA	Uncertain significance	1209181037	RCV001316775;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579655	17579655	17579655	-
NM_014339.7(IL17RA):c.311-4G>A	23765	IL17RA	Likely benign	757862938	RCV002176357;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579661	17579661	17579661	-
NM_014339.7(IL17RA):c.318C>G (p.Ile106Met)	23765	IL17RA	Uncertain significance	746727468	RCV001313452;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579672	17579672	17579672	-
NM_014339.7(IL17RA):c.327C>T (p.Leu109=)	23765	IL17RA	Likely benign	202060976	RCV000886937\|RCV001796304;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17579681	17579681	22:g.17579681C>T	-
NM_014339.7(IL17RA):c.327C>G (p.Leu109=)	23765	IL17RA	Likely benign	202060976	RCV002206892;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579681	17579681	17579681	-
NM_014339.7(IL17RA):c.328G>A (p.Glu110Lys)	23765	IL17RA	Uncertain significance	376575302	RCV000653446;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579682	17579682	22:g.17579682G>A	ClinGen:CA10086314	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.332G>T (p.Gly111Val)	23765	IL17RA	Uncertain significance	-1	RCV002820286;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579686	17579686	NC_000022.10:g.17579686G>T	-
NM_014339.7(IL17RA):c.354G>A (p.Gln118=)	23765	IL17RA	Uncertain significance	762177800	RCV000341148;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579708	17579708	22:g.17579708G>A	ClinGen:CA10086319	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.354G>C (p.Gln118His)	23765	IL17RA	Uncertain significance	-1	RCV002829981;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579708	17579708	NC_000022.10:g.17579708G>C	-
NM_014339.7(IL17RA):c.355C>A (p.Leu119Met)	23765	IL17RA	Uncertain significance	766246086	RCV000393283\|RCV003243095;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17579709	17579709	22:g.17579709C>A	ClinGen:CA10086320	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.360C>T (p.Asn120=)	23765	IL17RA	Likely benign	753629569	RCV002145299;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579714	17579714	17579714	-
NM_014339.7(IL17RA):c.361A>G (p.Thr121Ala)	23765	IL17RA	Uncertain significance	-1	RCV002966341;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579715	17579715	NC_000022.10:g.17579715A>G	-
NM_014339.7(IL17RA):c.370C>T (p.Arg124Cys)	23765	IL17RA	Uncertain significance	-1	RCV003074986;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579724	17579724	NC_000022.10:g.17579724C>T	-
NM_014339.7(IL17RA):c.371G>A (p.Arg124His)	23765	IL17RA	Uncertain significance	367569746	RCV001247196;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579725	17579725	22:g.17579725G>A	-
NM_014339.7(IL17RA):c.378C>G (p.Cys126Trp)	23765	IL17RA	Uncertain significance	-1	RCV002646493;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579732	17579732	NC_000022.10:g.17579732C>G	-
NM_014339.7(IL17RA):c.386T>A (p.Phe129Tyr)	23765	IL17RA	Uncertain significance	372834294	RCV001238489;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579740	17579740	22:g.17579740T>A	-
NM_014339.7(IL17RA):c.388G>C (p.Glu130Gln)	23765	IL17RA	Uncertain significance	2061378960	RCV001306553;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579742	17579742	17579742	-
NM_014339.7(IL17RA):c.422G>A (p.Arg141Gln)	23765	IL17RA	Uncertain significance	746193437	RCV000305739;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17579776	17579776	22:g.17579776G>A	ClinGen:CA10086331	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.424-12C>T	23765	IL17RA	Conflicting interpretations of pathogenicity	531208196	RCV000353604\|RCV002057794;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581233	17581233	22:g.17581233C>T	ClinGen:CA10086359	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.424-8C>A	23765	IL17RA	Likely benign	760867031	RCV001504662;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581237	17581237	17581237	-
NM_014339.7(IL17RA):c.427C>T (p.Arg143Cys)	23765	IL17RA	Conflicting interpretations of pathogenicity	145378071	RCV000535138\|RCV002252102\|RCV002263617;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|\|MedGen:C3661900	22	17581248	17581248	22:g.17581248C>T	ClinGen:CA10086362	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.450G>T (p.Val150=)	23765	IL17RA	Likely benign	144211130	RCV001426098;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581271	17581271	17581271	-
NM_014339.7(IL17RA):c.456C>A (p.Asp152Glu)	23765	IL17RA	Conflicting interpretations of pathogenicity	148692192	RCV001894414\|RCV003164100;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17581277	17581277	17581277	-
NM_014339.7(IL17RA):c.456C>T (p.Asp152=)	23765	IL17RA	Likely benign	148692192	RCV002078599;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581277	17581277	17581277	-
NM_014339.7(IL17RA):c.460G>C (p.Asp154His)	23765	IL17RA	Uncertain significance	1354147415	RCV001371428;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581281	17581281	17581281	-
NM_014339.7(IL17RA):c.462C>T (p.Asp154=)	23765	IL17RA	Likely benign	-1	RCV003018380;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581283	17581283		-
NM_014339.7(IL17RA):c.465G>C (p.Gln155His)	23765	IL17RA	Conflicting interpretations of pathogenicity	142199303	RCV000884861;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581286	17581286	22:g.17581286G>C	ClinGen:CA10086368	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.481G>A (p.Val161Ile)	23765	IL17RA	Uncertain significance	552176381	RCV001047129;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581302	17581302	22:g.17581302G>A	-
NM_014339.7(IL17RA):c.482T>C (p.Val161Ala)	23765	IL17RA	Uncertain significance	376923038	RCV001069308\|RCV003353147;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17581303	17581303	22:g.17581303T>C	-
NM_014339.7(IL17RA):c.512G>A (p.Gly171Glu)	23765	IL17RA	Uncertain significance	2123800881	RCV001874505;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581333	17581333	17581333	-
NM_014339.7(IL17RA):c.543T>C (p.Leu181=)	23765	IL17RA	Likely benign	1601343161	RCV001399388;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581364	17581364	22:g.17581364T>C	-
NM_014339.7(IL17RA):c.544G>C (p.Val182Leu)	23765	IL17RA	Uncertain significance	1312675148	RCV001136851;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581365	17581365	22:g.17581365G>C	-
NM_014339.7(IL17RA):c.550+11C>T	23765	IL17RA	Likely benign	-1	RCV002584390;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17581382	17581382	NC_000022.10:g.17581382C>T	-
NM_014339.7(IL17RA):c.551-15T>A	23765	IL17RA	Likely benign	-1	RCV002607632;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582871	17582871	NC_000022.10:g.17582871T>A	-
NM_014339.7(IL17RA):c.551-9G>T	23765	IL17RA	Benign/Likely benign	17205308	RCV000357195\|RCV000543055;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582877	17582877	22:g.17582877G>T	ClinGen:CA10086395	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.551-9_551-7del	23765	IL17RA	Likely benign	2123802407	RCV001463822;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582877	17582879	17582876	-
NM_014339.7(IL17RA):c.551-6C>T	23765	IL17RA	Likely benign	-1	RCV002774829;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582880	17582880	NC_000022.10:g.17582880C>T	-
NM_014339.7(IL17RA):c.551-5G>A	23765	IL17RA	Likely benign	747009874	RCV002175062;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582881	17582881	17582881	-
NM_014339.7(IL17RA):c.561C>T (p.His187=)	23765	IL17RA	Conflicting interpretations of pathogenicity	371342533	RCV000274104\|RCV000960646;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582896	17582896	22:g.17582896C>T	ClinGen:CA10086399	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.562G>A (p.Ala188Thr)	23765	IL17RA	Uncertain significance	527593084	RCV001211160;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582897	17582897	22:g.17582897G>A	-
NM_014339.7(IL17RA):c.565A>G (p.Arg189Gly)	23765	IL17RA	Uncertain significance	774179962	RCV001295912;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582900	17582900	17582900	-
NM_014339.7(IL17RA):c.581C>T (p.Thr194Met)	23765	IL17RA	Uncertain significance	151220068	RCV000560304;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582916	17582916	22:g.17582916C>T	ClinGen:CA10086406	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.582G>A (p.Thr194=)	23765	IL17RA	Uncertain significance	774719700	RCV002244181;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582917	17582917	17582917	-
NM_014339.7(IL17RA):c.598+1G>T	23765	IL17RA	Likely pathogenic	759315432	RCV002021583;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582934	17582934	17582934	-
NM_014339.7(IL17RA):c.598+5C>T	23765	IL17RA	Uncertain significance	765670063	RCV000331557;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582938	17582938	22:g.17582938C>T	ClinGen:CA10086410	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.598+7G>A	23765	IL17RA	Likely benign	1450901807	RCV002154166;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582940	17582940	17582940	-
NM_014339.7(IL17RA):c.598+14C>T	23765	IL17RA	Likely benign	-1	RCV003121407;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582947	17582947	NC_000022.10:g.17582947C>T	-
NM_014339.7(IL17RA):c.598+19G>C	23765	IL17RA	Likely benign	758810829	RCV002101109;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17582952	17582952	17582952	-
NM_014339.7(IL17RA):c.599-17G>A	23765	IL17RA	Benign	41444249	RCV001513317;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583012	17583012	17583012	-
NM_014339.7(IL17RA):c.599-17G>C	23765	IL17RA	Likely benign	-1	RCV003065439;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583012	17583012	NC_000022.10:g.17583012G>C	-
NM_014339.7(IL17RA):c.599-15G>C	23765	IL17RA	Likely benign	-1	RCV002820597;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583014	17583014	NC_000022.10:g.17583014G>C	-
NM_014339.7(IL17RA):c.599-5G>A	23765	IL17RA	Likely benign	570076897	RCV000940743;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583024	17583024	22:g.17583024G>A	-
NM_014339.7(IL17RA):c.599-3C>T	23765	IL17RA	Uncertain significance	1289429964	RCV001901053;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583026	17583026	17583026	-
NM_014339.7(IL17RA):c.603C>G (p.Ser201Arg)	23765	IL17RA	Uncertain significance	369409494	RCV001136852;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583033	17583033	22:g.17583033C>G	-
NM_014339.7(IL17RA):c.612C>T (p.Asp204=)	23765	IL17RA	Likely benign	-1	RCV002834600;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583042	17583042		-
NM_014339.7(IL17RA):c.614C>T (p.Pro205Leu)	23765	IL17RA	Uncertain significance	-1	RCV002600565\|RCV003250528;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17583044	17583044	NC_000022.10:g.17583044C>T	-
NM_014339.7(IL17RA):c.617A>C (p.Asn206Thr)	23765	IL17RA	Uncertain significance	750454090	RCV001203754;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583047	17583047	22:g.17583047A>C	-
NM_014339.7(IL17RA):c.625G>A (p.Val209Met)	23765	IL17RA	Conflicting interpretations of pathogenicity	534512644	RCV000369953;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583055	17583055	22:g.17583055G>A	ClinGen:CA10086441	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.634C>T (p.Leu212=)	23765	IL17RA	Likely benign	1046787585	RCV000892716\|RCV003432883;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17583064	17583064	22:g.17583064C>T	-
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val)	23765	IL17RA	Conflicting interpretations of pathogenicity	558799480	RCV000926289\|RCV002542194;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17583071	17583071	22:g.17583071C>T	-
NM_014339.7(IL17RA):c.643C>T (p.His215Tyr)	23765	IL17RA	Uncertain significance	-1	RCV003017898;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583073	17583073	NC_000022.10:g.17583073C>T	-
NM_014339.7(IL17RA):c.652C>T (p.Arg218Cys)	23765	IL17RA	Uncertain significance	-1	RCV002605129;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583082	17583082	NC_000022.10:g.17583082C>T	-
NM_014339.7(IL17RA):c.653G>A (p.Arg218His)	23765	IL17RA	Uncertain significance	140367455	RCV000700582;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583083	17583083	22:g.17583083G>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.655G>T (p.Val219Leu)	23765	IL17RA	Likely benign	186541010	RCV001136853;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583085	17583085	22:g.17583085G>T	-
NM_014339.7(IL17RA):c.665C>A (p.Thr222Asn)	23765	IL17RA	Uncertain significance	1568920472	RCV000695429;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583095	17583095	NC_000022.10:g.17583095C>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.676G>A (p.Glu226Lys)	23765	IL17RA	Uncertain significance	144085995	RCV000277143;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583106	17583106	22:g.17583106G>A	ClinGen:CA10086452	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.676G>C (p.Glu226Gln)	23765	IL17RA	Conflicting interpretations of pathogenicity	144085995	RCV000536377;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583106	17583106	22:g.17583106G>C	ClinGen:CA10086451	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.679T>G (p.Ser227Ala)	23765	IL17RA	Uncertain significance	371494126	RCV002022662;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583109	17583109	17583109	-
NM_014339.7(IL17RA):c.680_681insG (p.Thr228fs)	23765	IL17RA	Pathogenic	-1	RCV003004983;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583110	17583111	NC_000022.10:g.17583110_17583111insG	-
NM_014339.7(IL17RA):c.692A>G (p.Gln231Arg)	23765	IL17RA	Uncertain significance	750935138	RCV001993622;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583122	17583122	17583122	-
NM_014339.7(IL17RA):c.698T>C (p.Leu233Pro)	23765	IL17RA	Uncertain significance	1302439369	RCV001877244;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583128	17583128	17583128	-
NM_014339.7(IL17RA):c.702G>C (p.Leu234=)	23765	IL17RA	Likely benign	758299842	RCV002182250;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583132	17583132	17583132	-
NM_014339.7(IL17RA):c.704C>T (p.Thr235Ile)	23765	IL17RA	Uncertain significance	2123802746	RCV001977794;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583134	17583134	17583134	-
NM_014339.7(IL17RA):c.706A>T (p.Ser236Cys)	23765	IL17RA	Uncertain significance	374891419	RCV001042119;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583136	17583136	22:g.17583136A>T	-
NM_014339.7(IL17RA):c.714G>A (p.Pro238=)	23765	IL17RA	Likely benign	146464762	RCV001473842;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583144	17583144	17583144	-
NM_014339.7(IL17RA):c.714G>T (p.Pro238=)	23765	IL17RA	Likely benign	146464762	RCV001489869;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583144	17583144	17583144	-
NM_014339.7(IL17RA):c.715C>T (p.His239Tyr)	23765	IL17RA	Uncertain significance	369259606	RCV001924066;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583145	17583145	17583145	-
NM_014339.7(IL17RA):c.718A>G (p.Met240Val)	23765	IL17RA	Uncertain significance	1433880642	RCV001041161;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583148	17583148	22:g.17583148A>G	-
NM_014339.7(IL17RA):c.719T>C (p.Met240Thr)	23765	IL17RA	Uncertain significance	780107646	RCV001320431;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583149	17583149	17583149	-
NM_014339.7(IL17RA):c.721G>A (p.Glu241Lys)	23765	IL17RA	Uncertain significance	140868574	RCV002019053;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583151	17583151	17583151	-
NM_014339.7(IL17RA):c.749A>G (p.His250Arg)	23765	IL17RA	Uncertain significance	1601344417	RCV001877720;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583179	17583179	17583179	-
NM_014339.7(IL17RA):c.758C>T (p.Pro253Leu)	23765	IL17RA	Uncertain significance	779662031	RCV001139092\|RCV003283994;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17583188	17583188	22:g.17583188C>T	-
NM_014339.7(IL17RA):c.762+20C>T	23765	IL17RA	Benign	145541428	RCV001522870;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17583212	17583212	17583212	-
NM_014339.7(IL17RA):c.763-15C>T	23765	IL17RA	Likely benign	192998160	RCV002213356;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584369	17584369	17584369	-
NM_014339.7(IL17RA):c.763-12C>A	23765	IL17RA	Likely benign	370882184	RCV002088317;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584372	17584372	17584372	-
NM_014339.7(IL17RA):c.763C>T (p.Pro255Ser)	23765	IL17RA	Uncertain significance	375341860	RCV001063948;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584384	17584384	22:g.17584384C>T	-
NM_014339.7(IL17RA):c.769_773del (p.Pro257fs)	23765	IL17RA	Pathogenic	1057518747	RCV000412583;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584385	17584389	NC_000022.10:g.17584390_17584394delCCAGA	ClinGen:CA16042242,OMIM:605461.0006	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.765C>T (p.Pro255=)	23765	IL17RA	Benign	-1	RCV002643819;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584386	17584386		-
NM_014339.7(IL17RA):c.769C>G (p.Pro257Ala)	23765	IL17RA	Uncertain significance	199569526	RCV001938950;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584390	17584390	17584390	-
NM_014339.7(IL17RA):c.787C>T (p.Arg263Ter)	23765	IL17RA	Pathogenic	778624945	RCV000704330;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584408	17584408	NC_000022.10:g.17584408C>T	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.788G>A (p.Arg263Gln)	23765	IL17RA	Uncertain significance	772405373	RCV001204313;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584409	17584409	22:g.17584409G>A	-
NM_014339.7(IL17RA):c.791C>T (p.Ser264Phe)	23765	IL17RA	Uncertain significance	2061399166	RCV001323363;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584412	17584412	17584412	-
NM_014339.7(IL17RA):c.794A>G (p.Asn265Ser)	23765	IL17RA	Uncertain significance	201250724	RCV001063809;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584415	17584415	22:g.17584415A>G	-
NM_014339.7(IL17RA):c.796G>A (p.Val266Ile)	23765	IL17RA	Uncertain significance	112267700	RCV001932911;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584417	17584417	17584417	-
NM_014339.7(IL17RA):c.805_808del (p.Thr269fs)	23765	IL17RA	Likely pathogenic	-1	RCV003448864;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584421	17584424		-
NM_014339.7(IL17RA):c.808C>G (p.Leu270Val)	23765	IL17RA	Uncertain significance	2123803804	RCV001359272;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584429	17584429	17584429	-
NM_014339.7(IL17RA):c.812G>A (p.Arg271His)	23765	IL17RA	Conflicting interpretations of pathogenicity	775839180	RCV000653449\|RCV002523206;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17584433	17584433	22:g.17584433G>A	ClinGen:CA10086498	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.812_813delinsAA (p.Arg271Gln)	23765	IL17RA	Uncertain significance	1601345228	RCV000812731;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584433	17584434	NC_000022.10:g.17584433_17584434delinsAA	-
NM_014339.7(IL17RA):c.813C>A (p.Arg271=)	23765	IL17RA	Uncertain significance	763313591	RCV000289969;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584434	17584434	22:g.17584434C>A	ClinGen:CA10086499	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.819T>G (p.Leu273=)	23765	IL17RA	Likely benign	-1	RCV002635235;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584440	17584440		-
NM_014339.7(IL17RA):c.825G>C (p.Gly275=)	23765	IL17RA	Likely benign	-1	RCV003052169;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584446	17584446		-
NM_014339.7(IL17RA):c.832C>T (p.Arg278Cys)	23765	IL17RA	Uncertain significance	767388612	RCV000528555\|RCV003159935;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17584453	17584453	NC_000022.10:g.17584453C>T	ClinGen:CA10086500	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.833G>A (p.Arg278His)	23765	IL17RA	Benign	141467790	RCV000967787\|RCV001727832\|RCV001701387;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:CN169374\|MedGen:C3661900	22	17584454	17584454	22:g.17584454G>A	-
NM_014339.7(IL17RA):c.846+4_846+31del	23765	IL17RA	Uncertain significance	2123803860	RCV001995383;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584470	17584497	17584469	-
NM_014339.7(IL17RA):c.846+4G>A	23765	IL17RA	Uncertain significance	1486517273	RCV002029290;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584471	17584471	17584471	-
NM_014339.7(IL17RA):c.846+8A>G	23765	IL17RA	Likely benign	372332389	RCV002146804;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17584475	17584475	17584475	-
NM_014339.7(IL17RA):c.847-15C>T	23765	IL17RA	Likely benign	902665119	RCV002148295;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585601	17585601	17585601	-
NM_014339.7(IL17RA):c.847-14C>G	23765	IL17RA	Conflicting interpretations of pathogenicity	201410617	RCV000328487;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585602	17585602	22:g.17585602C>G	ClinGen:CA10086512	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.847A>G (p.Ile283Val)	23765	IL17RA	Uncertain significance	886057202	RCV000376187;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585616	17585616	22:g.17585616A>G	ClinGen:CA10653763	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.849C>G (p.Ile283Met)	23765	IL17RA	Uncertain significance	769892740	RCV001906348;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585618	17585618	17585618	-
NM_014339.7(IL17RA):c.850C>T (p.Gln284Ter)	23765	IL17RA	Pathogenic	387906913	RCV000023443;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585619	17585619	22:g.17585619C>T	ClinGen:CA129263,OMIM:605461.0001	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.855C>G (p.Pro285=)	23765	IL17RA	Benign	41339945	RCV000653461;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585624	17585624	22:g.17585624C>G	ClinGen:CA10086518	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.857T>C (p.Phe286Ser)	23765	IL17RA	Uncertain significance	760515134	RCV001885534;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585626	17585626	17585626	-
NM_014339.7(IL17RA):c.859T>C (p.Phe287Leu)	23765	IL17RA	Uncertain significance	753793215	RCV001226090;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585628	17585628	22:g.17585628T>C	-
NM_014339.7(IL17RA):c.861C>T (p.Phe287=)	23765	IL17RA	Likely benign	-1	RCV002829577;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585630	17585630		-
NM_014339.7(IL17RA):c.873C>T (p.Leu291=)	23765	IL17RA	Benign	2228077	RCV000653457;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585642	17585642	NC_000022.10:g.17585642C>T	ClinGen:CA10086525	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.873C>G (p.Leu291=)	23765	IL17RA	Likely benign	2228077	RCV001469418;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585642	17585642	17585642	-
NM_014339.7(IL17RA):c.875A>G (p.Asn292Ser)	23765	IL17RA	Uncertain significance	-1	RCV002933560;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585644	17585644	NC_000022.10:g.17585644A>G	-
NM_014339.7(IL17RA):c.882C>T (p.Cys294=)	23765	IL17RA	Likely benign	2123806097	RCV001506860;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585651	17585651	17585651	-
NM_014339.7(IL17RA):c.889C>T (p.His297Tyr)	23765	IL17RA	Benign	180787596	RCV000887198;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585658	17585658	22:g.17585658C>T	-
NM_014339.7(IL17RA):c.891C>T (p.His297=)	23765	IL17RA	Likely benign	-1	RCV002721288;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585660	17585660		-
NM_014339.7(IL17RA):c.894C>T (p.Ser298=)	23765	IL17RA	Conflicting interpretations of pathogenicity	374537654	RCV000284020;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585663	17585663	22:g.17585663C>T	ClinGen:CA10086529	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.895G>A (p.Ala299Thr)	23765	IL17RA	Uncertain significance	781461932	RCV002025777;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585664	17585664	17585664	-
NM_014339.7(IL17RA):c.896C>A (p.Ala299Glu)	23765	IL17RA	Uncertain significance	-1	RCV002695406;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585665	17585665	NC_000022.10:g.17585665C>A	-
NM_014339.7(IL17RA):c.897G>A (p.Ala299=)	23765	IL17RA	Likely benign	770161898	RCV001426742;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585666	17585666	17585666	-
NM_014339.7(IL17RA):c.904T>C (p.Ser302Pro)	23765	IL17RA	Uncertain significance	768923702	RCV001987149;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585673	17585673	17585673	-
NM_014339.7(IL17RA):c.906C>T (p.Ser302=)	23765	IL17RA	Likely benign	2123806173	RCV002135233;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585675	17585675	17585675	-
NM_014339.7(IL17RA):c.907T>C (p.Cys303Arg)	23765	IL17RA	Uncertain significance	2061407304	RCV001141704;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585676	17585676	22:g.17585676T>C	-
NM_014339.7(IL17RA):c.910C>T (p.Pro304Ser)	23765	IL17RA	Uncertain significance	-1	RCV003009076;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585679	17585679	NC_000022.10:g.17585679C>T	-
NM_014339.7(IL17RA):c.926C>T (p.Thr309Ile)	23765	IL17RA	Uncertain significance	776247658	RCV000653447;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585695	17585695	NC_000022.10:g.17585695C>T	ClinGen:CA10086539	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.931+7del	23765	IL17RA	Benign	531944007	RCV000536725;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585704	17585704	NC_000022.10:g.17585707del	ClinGen:CA10086542	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.931+6G>C	23765	IL17RA	Uncertain significance	762449094	RCV001305029;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585706	17585706	17585706	-
NM_014339.7(IL17RA):c.931+6G>A	23765	IL17RA	Uncertain significance	762449094	RCV001864289;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585706	17585706	17585706	-
NM_014339.7(IL17RA):c.931+7G>A	23765	IL17RA	Likely benign	919985232	RCV001464729;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585707	17585707	17585707	-
NM_014339.7(IL17RA):c.931+14G>A	23765	IL17RA	Likely benign	367558296	RCV002209972;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585714	17585714	17585714	-
NM_014339.7(IL17RA):c.931+17T>C	23765	IL17RA	Likely benign	-1	RCV002701537;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17585717	17585717	NC_000022.10:g.17585717T>C	-
NM_014339.7(IL17RA):c.932-10C>T	23765	IL17RA	Benign	2241046	RCV000341309\|RCV000455273\|RCV000610203\|RCV001824748;	N	MedGen:CN239217\|MedGen:CN169374\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17586471	17586471	NC_000022.10:g.17586471C>T	ClinGen:CA10086565	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.932-5T>A	23765	IL17RA	Uncertain significance	2123807213	RCV001360111;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586476	17586476	17586476	-
NM_014339.7(IL17RA):c.941C>T (p.Pro314Leu)	23765	IL17RA	Uncertain significance	762930594	RCV001233166;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586490	17586490	22:g.17586490C>T	-
NM_014339.7(IL17RA):c.942G>A (p.Pro314=)	23765	IL17RA	Likely benign	41321447	RCV000653462;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586491	17586491	NC_000022.10:g.17586491G>A	ClinGen:CA10086569	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.942G>C (p.Pro314=)	23765	IL17RA	Uncertain significance	41321447	RCV001069001;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586491	17586491	22:g.17586491G>C	-
NM_014339.7(IL17RA):c.943+3A>T	23765	IL17RA	Uncertain significance	377254160	RCV001232386;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586495	17586495	22:g.17586495A>T	-
NM_014339.7(IL17RA):c.943+9G>C	23765	IL17RA	Likely benign	-1	RCV002637897;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586501	17586501	NC_000022.10:g.17586501G>C	-
NM_014339.7(IL17RA):c.943+10G>A	23765	IL17RA	Likely benign	1251354497	RCV001477321;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586502	17586502	22:g.17586502G>A	-
NM_014339.7(IL17RA):c.943+15C>G	23765	IL17RA	Likely benign	1314729433	RCV002194834;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586507	17586507	17586507	-
NM_014339.7(IL17RA):c.944-19G>C	23765	IL17RA	Likely benign	374594183	RCV002195314;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586724	17586724	17586724	-
NM_014339.7(IL17RA):c.944-19G>A	23765	IL17RA	Likely benign	-1	RCV002934030;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586724	17586724	NC_000022.10:g.17586724G>A	-
NM_014339.7(IL17RA):c.944-16G>A	23765	IL17RA	Benign	201595468	RCV002080582;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586727	17586727	17586727	-
NM_014339.7(IL17RA):c.944-13C>G	23765	IL17RA	Likely benign	-1	RCV002647767;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586730	17586730	NC_000022.10:g.17586730C>G	-
NM_014339.7(IL17RA):c.944-6C>A	23765	IL17RA	Uncertain significance	2123807788	RCV002049685;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586737	17586737	17586737	-
NM_014339.7(IL17RA):c.944-5C>T	23765	IL17RA	Likely benign	370875549	RCV000920138;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586738	17586738	22:g.17586738C>T	-
NM_014339.7(IL17RA):c.944-5C>G	23765	IL17RA	Uncertain significance	-1	RCV003093187;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586738	17586738	NC_000022.10:g.17586738C>G	-
NM_014339.7(IL17RA):c.944-4G>A	23765	IL17RA	Likely benign	1347587643	RCV002177900;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586739	17586739	17586739	-
NM_014339.7(IL17RA):c.949A>G (p.Met317Val)	23765	IL17RA	Uncertain significance	1208693308	RCV001967423;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586748	17586748	17586748	-
NM_014339.7(IL17RA):c.952C>T (p.Pro318Ser)	23765	IL17RA	Uncertain significance	200724343	RCV001043032;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586751	17586751	22:g.17586751C>T	-
NM_014339.7(IL17RA):c.955C>T (p.Leu319=)	23765	IL17RA	Likely benign	2061412912	RCV001439725;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586754	17586754	17586754	-
NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg)	23765	IL17RA	Conflicting interpretations of pathogenicity	140221307	RCV000278506\|RCV000653465;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586757	17586757	NC_000022.10:g.17586757T>C	ClinGen:CA10086605	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.960G>T (p.Trp320Cys)	23765	IL17RA	Uncertain significance	758399114	RCV001041054;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586759	17586759	22:g.17586759G>T	-
NM_014339.7(IL17RA):c.978G>A (p.Thr326=)	23765	IL17RA	Conflicting interpretations of pathogenicity	143239201	RCV000893496;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586777	17586777	22:g.17586777G>A	-
NM_014339.7(IL17RA):c.978G>T (p.Thr326=)	23765	IL17RA	Likely benign	143239201	RCV001492426;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586777	17586777	17586777	-
NM_014339.7(IL17RA):c.990C>T (p.Ile330=)	23765	IL17RA	Likely benign	-1	RCV002971333;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586789	17586789		-
NM_014339.7(IL17RA):c.993G>A (p.Leu331=)	23765	IL17RA	Likely benign	2123807873	RCV002215515;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586792	17586792	17586792	-
NM_014339.7(IL17RA):c.995T>C (p.Leu332Pro)	23765	IL17RA	Uncertain significance	1414561554	RCV001881371;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586794	17586794	17586794	-
NM_014339.7(IL17RA):c.996_997delinsCT (p.Val333Leu)	23765	IL17RA	Uncertain significance	2061413124	RCV001303597;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586795	17586796	17586795	-
NM_014339.7(IL17RA):c.1005C>T (p.Ser335=)	23765	IL17RA	Likely benign	-1	RCV002592073;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586804	17586804		-
NM_014339.7(IL17RA):c.1006G>A (p.Val336Ile)	23765	IL17RA	Uncertain significance	138404135	RCV001308979;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586805	17586805	17586805	-
NM_014339.7(IL17RA):c.1020C>A (p.Ile340=)	23765	IL17RA	Likely benign	-1	RCV002726472;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586819	17586819		-
NM_014339.7(IL17RA):c.1021G>A (p.Val341Ile)	23765	IL17RA	Uncertain significance	868826492	RCV001231424;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586820	17586820	22:g.17586820G>A	-
NM_014339.7(IL17RA):c.1030A>G (p.Thr344Ala)	23765	IL17RA	Uncertain significance	2061413259	RCV001062277;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586829	17586829	22:g.17586829A>G	-
NM_014339.7(IL17RA):c.1032C>G (p.Thr344=)	23765	IL17RA	Likely benign	753127082	RCV002220106;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586831	17586831	17586831	-
NM_014339.7(IL17RA):c.1038G>C (p.Arg346Ser)	23765	IL17RA	Uncertain significance	2123807952	RCV001931980;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586837	17586837	17586837	-
NM_014339.7(IL17RA):c.1045+6C>T	23765	IL17RA	Conflicting interpretations of pathogenicity	763664351	RCV000917963;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586850	17586850	NC_000022.10:g.17586850C>T	ClinGen:CA10086625	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1045+7G>A	23765	IL17RA	Conflicting interpretations of pathogenicity	572837622	RCV000892588;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586851	17586851	NC_000022.10:g.17586851G>A	ClinGen:CA10086626	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1045+10G>A	23765	IL17RA	Likely benign	750710772	RCV002191458;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586854	17586854	17586854	-
NM_014339.7(IL17RA):c.1045+12G>A	23765	IL17RA	Likely benign	754706285	RCV002103575;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17586856	17586856	17586856	-
NM_014339.7(IL17RA):c.1046-10dup	23765	IL17RA	Benign	1348186101	RCV001517494;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588603	17588604	17588603	-
NM_014339.7(IL17RA):c.1046-11T>C	23765	IL17RA	Likely benign	750091694	RCV001442693;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588606	17588606	17588606	-
NM_014339.7(IL17RA):c.1046-4C>T	23765	IL17RA	Likely benign	1601348752	RCV002149809;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588613	17588613	17588613	-
NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala)	23765	IL17RA	Conflicting interpretations of pathogenicity	143897670	RCV000941998;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588617	17588617	NC_000022.10:g.17588617G>C	ClinGen:CA10086648	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1047G>A (p.Gly349=)	23765	IL17RA	Likely benign	-1	RCV002623869;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588618	17588618		-
NM_014339.7(IL17RA):c.1067G>A (p.Ser356Asn)	23765	IL17RA	Uncertain significance	777845932	RCV002041839;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588638	17588638	17588638	-
NM_014339.7(IL17RA):c.1081T>C (p.Tyr361His)	23765	IL17RA	Uncertain significance	34545718	RCV000699691;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588652	17588652	22:g.17588652T>C	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1085C>T (p.Thr362Ile)	23765	IL17RA	Uncertain significance	371565499	RCV001874302\|RCV003348551;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17588656	17588656	17588656	-
NM_014339.7(IL17RA):c.1086C>A (p.Thr362=)	23765	IL17RA	Uncertain significance	139716919	RCV000694843;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588657	17588657	NC_000022.10:g.17588657C>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1086C>T (p.Thr362=)	23765	IL17RA	Uncertain significance	139716919	RCV001143526;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588657	17588657	22:g.17588657C>T	-
NM_014339.7(IL17RA):c.1087G>A (p.Asp363Asn)	23765	IL17RA	Uncertain significance	149771513	RCV000814596;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588658	17588658	22:g.17588658G>A	-
NM_014339.7(IL17RA):c.1087+14G>A	23765	IL17RA	Likely benign	2123810098	RCV002183864;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17588672	17588672	17588672	-
NM_014339.7(IL17RA):c.1100C>T (p.Ala367Val)	23765	IL17RA	Benign	879577	RCV000367282\|RCV000456040\|RCV001510215\|RCV001824749;	N	MedGen:CN239217\|MedGen:CN169374\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17589209	17589209	NC_000022.10:g.17589209C>T	ClinGen:CA10086673,UniProtKB:Q96F46#VAR_027966	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1100C>A (p.Ala367Glu)	23765	IL17RA	Uncertain significance	879577	RCV001968017;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589209	17589209	17589209	-
NM_014339.7(IL17RA):c.1102G>A (p.Ala368Thr)	23765	IL17RA	Uncertain significance	1568923119	RCV000698833;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589211	17589211	NC_000022.10:g.17589211G>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1116C>T (p.Pro372=)	23765	IL17RA	Benign	138584265	RCV000538804;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589225	17589225	22:g.17589225C>T	ClinGen:CA10086676	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1117C>T (p.Pro373Ser)	23765	IL17RA	Uncertain significance	748951854	RCV002049272;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589226	17589226	17589226	-
NM_014339.7(IL17RA):c.1118C>T (p.Pro373Leu)	23765	IL17RA	Uncertain significance	768987583	RCV000816248;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589227	17589227	22:g.17589227C>T	-
NM_014339.7(IL17RA):c.1120C>T (p.Pro374Ser)	23765	IL17RA	Uncertain significance	1601349199	RCV000806444;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589229	17589229	22:g.17589229C>T	-
NM_014339.7(IL17RA):c.1122G>A (p.Pro374=)	23765	IL17RA	Likely benign	202242816	RCV000944904;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589231	17589231	22:g.17589231G>A	-
NM_014339.7(IL17RA):c.1128G>A (p.Lys376=)	23765	IL17RA	Likely benign	2123810807	RCV001439231;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589237	17589237	17589237	-
NM_014339.7(IL17RA):c.1137G>A (p.Lys379=)	23765	IL17RA	Benign	879576	RCV000399063\|RCV001513308;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589246	17589246	NC_000022.10:g.17589246G>A	ClinGen:CA10086682	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1158C>T (p.Ala386=)	23765	IL17RA	Likely benign	760800603	RCV001448570;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589267	17589267	17589267	-
NM_014339.7(IL17RA):c.1159G>A (p.Asp387Asn)	23765	IL17RA	Pathogenic	1057519079	RCV000412594;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589268	17589268	NC_000022.10:g.17589268G>A	ClinGen:CA16042239,OMIM:605461.0003	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1161C>T (p.Asp387=)	23765	IL17RA	Likely benign	770971320	RCV002102756;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589270	17589270	17589270	-
NM_014339.7(IL17RA):c.1165C>T (p.Pro389Ser)	23765	IL17RA	Uncertain significance	776885778	RCV000794518;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589274	17589274	22:g.17589274C>T	-
NM_014339.7(IL17RA):c.1166C>G (p.Pro389Arg)	23765	IL17RA	Uncertain significance	561656428	RCV000816824;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589275	17589275	22:g.17589275C>G	-
NM_014339.7(IL17RA):c.1167C>G (p.Pro389=)	23765	IL17RA	Conflicting interpretations of pathogenicity	139412425	RCV000313706;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589276	17589276	NC_000022.10:g.17589276C>G	ClinGen:CA10086687	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)	23765	IL17RA	Conflicting interpretations of pathogenicity	146478431	RCV000653464\|RCV001091901;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17589283	17589283	22:g.17589283G>T	ClinGen:CA10086690	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1179C>T (p.Asp393=)	23765	IL17RA	Likely benign	779479873	RCV001392637;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589288	17589288	17589288	-
NM_014339.7(IL17RA):c.1180G>A (p.Val394Met)	23765	IL17RA	Uncertain significance	372842141	RCV001884724;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589289	17589289	17589289	-
NM_014339.7(IL17RA):c.1188G>A (p.Leu396=)	23765	IL17RA	Benign	2229151	RCV000362761\|RCV001521475;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589297	17589297	NC_000022.10:g.17589297G>A	ClinGen:CA10086697	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1189A>C (p.Lys397Gln)	23765	IL17RA	Uncertain significance	772488643	RCV001944268;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589298	17589298	17589298	-
NM_014339.7(IL17RA):c.1204C>G (p.Leu402Val)	23765	IL17RA	Uncertain significance	2061422876	RCV002037985;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589313	17589313	17589313	-
NM_014339.7(IL17RA):c.1212C>T (p.Thr404=)	23765	IL17RA	Likely benign	-1	RCV002573991;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589321	17589321		-
NM_014339.7(IL17RA):c.1224G>A (p.Thr408=)	23765	IL17RA	Likely benign	776536704	RCV002196614;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589333	17589333	17589333	-
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)	23765	IL17RA	Conflicting interpretations of pathogenicity	151166583	RCV000892960;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589341	17589341	22:g.17589341C>T	-
NM_014339.7(IL17RA):c.1233C>T (p.Ala411=)	23765	IL17RA	Conflicting interpretations of pathogenicity	552425210	RCV000270420;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589342	17589342	NC_000022.10:g.17589342C>T	ClinGen:CA10086704	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1254G>C (p.Gln418His)	23765	IL17RA	Uncertain significance	2061423105	RCV001975833;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589363	17589363	17589363	-
NM_014339.7(IL17RA):c.1256C>G (p.Ala419Gly)	23765	IL17RA	Uncertain significance	1263027029	RCV001235602;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589365	17589365	22:g.17589365C>G	-
NM_014339.7(IL17RA):c.1289G>C (p.Gly430Ala)	23765	IL17RA	Uncertain significance	192300437	RCV001316006;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589398	17589398	17589398	-
NM_014339.7(IL17RA):c.1302_1318dup (p.Asn440fs)	23765	IL17RA	Pathogenic	1057518744	RCV000412511;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589406	17589407	22:g.17589406_17589407insAGCAGGAGATGGTGGAG	ClinGen:CA16042238,OMIM:605461.0002	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1304A>G (p.Glu435Gly)	23765	IL17RA	Uncertain significance	1304084287	RCV002033304\|RCV002545341;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589413	17589413	17589413	-
NM_014339.7(IL17RA):c.1316G>A (p.Ser439Asn)	23765	IL17RA	Uncertain significance	2061423435	RCV001139201;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589425	17589425	22:g.17589425G>A	-
NM_014339.7(IL17RA):c.1323dup (p.Lys442Ter)	23765	IL17RA	Uncertain significance	1568923319	RCV000767996;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589431	17589432	NC_000022.10:g.17589432dup	-
NM_014339.7(IL17RA):c.1324A>G (p.Lys442Glu)	23765	IL17RA	Uncertain significance	-1	RCV003142586;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589433	17589433	NC_000022.10:g.17589433A>G	-
NM_014339.7(IL17RA):c.1338G>A (p.Leu446=)	23765	IL17RA	Likely benign	140139879	RCV000556093;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589447	17589447	22:g.17589447G>A	ClinGen:CA10086717	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1346G>A (p.Arg449His)	23765	IL17RA	Uncertain significance	-1	RCV002598921\|RCV002598922;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589455	17589455	NC_000022.10:g.17589455G>A	-
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=)	23765	IL17RA	Conflicting interpretations of pathogenicity	781731675	RCV001139202;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589456	17589456	22:g.17589456C>T	-
NM_014339.7(IL17RA):c.1354C>T (p.Arg452Cys)	23765	IL17RA	Uncertain significance	771869327	RCV000703992;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589463	17589463	22:g.17589463C>T	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1371G>C (p.Ala457=)	23765	IL17RA	Likely benign	-1	RCV002642714;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589480	17589480		-
NM_014339.7(IL17RA):c.1379G>A (p.Gly460Asp)	23765	IL17RA	Uncertain significance	147965632	RCV001300926;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589488	17589488	17589488	-
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp)	23765	IL17RA	Conflicting interpretations of pathogenicity	554211497	RCV001139203;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589490	17589490	22:g.17589490C>T	-
NM_014339.7(IL17RA):c.1382G>A (p.Arg461Gln)	23765	IL17RA	Uncertain significance	758003165	RCV001299129;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589491	17589491	17589491	-
NM_014339.7(IL17RA):c.1383G>C (p.Arg461=)	23765	IL17RA	Likely benign	-1	RCV003029524;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589492	17589492		-
NM_014339.7(IL17RA):c.1387G>A (p.Ala463Thr)	23765	IL17RA	Uncertain significance	757649231	RCV001923953;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589496	17589496	17589496	-
NM_014339.7(IL17RA):c.1387G>T (p.Ala463Ser)	23765	IL17RA	Uncertain significance	757649231	RCV002016179;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589496	17589496	17589496	-
NM_014339.7(IL17RA):c.1400T>C (p.Leu467Pro)	23765	IL17RA	Uncertain significance	369912474	RCV000653445;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589509	17589509	NC_000022.10:g.17589509T>C	ClinGen:CA10086742	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1402C>T (p.Arg468Cys)	23765	IL17RA	Uncertain significance	1465132286	RCV000532154;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589511	17589511	NC_000022.10:g.17589511C>T	ClinGen:CA410216826	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1407C>T (p.Cys469=)	23765	IL17RA	Conflicting interpretations of pathogenicity	41396346	RCV000653456;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589516	17589516	NC_000022.10:g.17589516C>T	ClinGen:CA10086745	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1410C>T (p.Asp470=)	23765	IL17RA	Likely benign	-1	RCV003112636;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589519	17589519		-
NM_014339.7(IL17RA):c.1412A>G (p.His471Arg)	23765	IL17RA	Likely benign	138446583	RCV000653458;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589521	17589521	NC_000022.10:g.17589521A>G	ClinGen:CA10086748	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1414G>A (p.Gly472Arg)	23765	IL17RA	Uncertain significance	765188580	RCV001139204;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589523	17589523	22:g.17589523G>A	-
NM_014339.7(IL17RA):c.1416A>G (p.Gly472=)	23765	IL17RA	Likely benign	894521435	RCV002115531;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589525	17589525	17589525	-
NM_014339.7(IL17RA):c.1423G>A (p.Val475Met)	23765	IL17RA	Uncertain significance	762540559	RCV001879126;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589532	17589532	17589532	-
NM_014339.7(IL17RA):c.1426G>A (p.Gly476Arg)	23765	IL17RA	Uncertain significance	763589779	RCV000653455;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589535	17589535	NC_000022.10:g.17589535G>A	ClinGen:CA10086752	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1427G>A (p.Gly476Glu)	23765	IL17RA	Uncertain significance	1198329596	RCV001058961;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589536	17589536	22:g.17589536G>A	-
NM_014339.7(IL17RA):c.1437C>G (p.Phe479Leu)	23765	IL17RA	Uncertain significance	1432571501	RCV001892185;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589546	17589546	17589546	-
NM_014339.7(IL17RA):c.1446C>T (p.Ala482=)	23765	IL17RA	Likely benign	750929023	RCV001466388;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589555	17589555	17589555	-
NM_014339.7(IL17RA):c.1447A>G (p.Met483Val)	23765	IL17RA	Uncertain significance	756651011	RCV001884131;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589556	17589556	17589556	-
NM_014339.7(IL17RA):c.1458C>T (p.Ile486=)	23765	IL17RA	Benign	879575	RCV000264672\|RCV000454866\|RCV001510216\|RCV001824750;	N	MedGen:CN239217\|MedGen:CN169374\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17589567	17589567	NC_000022.10:g.17589567C>T	ClinGen:CA10086760	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1464G>A (p.Pro488=)	23765	IL17RA	Likely benign	368404830	RCV001312919;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589573	17589573	17589573	-
NM_014339.7(IL17RA):c.1467C>A (p.Asp489Glu)	23765	IL17RA	Uncertain significance	-1	RCV003025303;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589576	17589576	NC_000022.10:g.17589576C>A	-
NM_014339.7(IL17RA):c.1472A>G (p.Lys491Arg)	23765	IL17RA	Uncertain significance	748447966	RCV001372762;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589581	17589581	17589581	-
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys)	23765	IL17RA	Conflicting interpretations of pathogenicity	770597137	RCV001141817\|RCV002557015;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589584	17589584	22:g.17589584G>A	-
NM_014339.7(IL17RA):c.1477C>G (p.Pro493Ala)	23765	IL17RA	Uncertain significance	2123811523	RCV002033887;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589586	17589586	17589586	-
NM_014339.7(IL17RA):c.1486T>C (p.Phe496Leu)	23765	IL17RA	Uncertain significance	886057203	RCV000322190;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589595	17589595	NC_000022.10:g.17589595T>C	ClinGen:CA10650786	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1493C>T (p.Thr498Ile)	23765	IL17RA	Conflicting interpretations of pathogenicity	41529049	RCV000540309;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589602	17589602	22:g.17589602C>T	ClinGen:CA10086768	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1498G>A (p.Val500Ile)	23765	IL17RA	Uncertain significance	762369642	RCV002008097;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589607	17589607	17589607	-
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=)	23765	IL17RA	Conflicting interpretations of pathogenicity	148319877	RCV000379138\|RCV000552801\|RCV001702620;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17589639	17589639	NC_000022.10:g.17589639C>T	ClinGen:CA10086777	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1531G>A (p.Gly511Ser)	23765	IL17RA	Uncertain significance	754989357	RCV001305650;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589640	17589640	17589640	-
NM_014339.7(IL17RA):c.1533C>T (p.Gly511=)	23765	IL17RA	Likely benign	779086814	RCV001233719;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589642	17589642	22:g.17589642C>T	-
NM_014339.7(IL17RA):c.1534G>A (p.Asp512Asn)	23765	IL17RA	Uncertain significance	-1	RCV002706182\|RCV002720460;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589643	17589643	NC_000022.10:g.17589643G>A	-
NM_014339.7(IL17RA):c.1547T>C (p.Leu516Pro)	23765	IL17RA	Uncertain significance	2061425386	RCV001233651\|RCV003166435;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589656	17589656	22:g.17589656T>C	-
NM_014339.7(IL17RA):c.1548G>A (p.Leu516=)	23765	IL17RA	Likely benign	1412534782	RCV002139503;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589657	17589657	17589657	-
NM_014339.7(IL17RA):c.1551C>G (p.Phe517Leu)	23765	IL17RA	Uncertain significance	769646719	RCV000822767\|RCV003169040;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589660	17589660	22:g.17589660C>G	-
NM_014339.7(IL17RA):c.1551C>T (p.Phe517=)	23765	IL17RA	Likely benign	769646719	RCV002196904;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589660	17589660	17589660	-
NM_014339.7(IL17RA):c.1552G>A (p.Gly518Ser)	23765	IL17RA	Uncertain significance	749300733	RCV002018585;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589661	17589661	17589661	-
NM_014339.7(IL17RA):c.1555G>C (p.Ala519Pro)	23765	IL17RA	Uncertain significance	-1	RCV003054415;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589664	17589664	NC_000022.10:g.17589664G>C	-
NM_014339.7(IL17RA):c.1556C>T (p.Ala519Val)	23765	IL17RA	Uncertain significance	761253685	RCV002024682;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589665	17589665	17589665	-
NM_014339.7(IL17RA):c.1561_1565dup (p.Tyr523fs)	23765	IL17RA	Uncertain significance	-1	RCV002828121;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589666	17589667	NC_000022.10:g.17589670_17589674dup	-
NM_014339.7(IL17RA):c.1560G>A (p.Ala520=)	23765	IL17RA	Likely benign	370254874	RCV001410024;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589669	17589669	17589669	-
NM_014339.7(IL17RA):c.1563G>C (p.Pro521=)	23765	IL17RA	Likely benign	-1	RCV002594735;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589672	17589672		-
NM_014339.7(IL17RA):c.1564C>T (p.Arg522Trp)	23765	IL17RA	Uncertain significance	543278251	RCV001365907\|RCV002548573;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589673	17589673	17589673	-
NM_014339.7(IL17RA):c.1565G>A (p.Arg522Gln)	23765	IL17RA	Uncertain significance	372510142	RCV000810791\|RCV002537342;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589674	17589674	22:g.17589674G>A	-
NM_014339.7(IL17RA):c.1569C>T (p.Tyr523=)	23765	IL17RA	Likely benign	1354116333	RCV002108470;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589678	17589678	17589678	-
NM_014339.7(IL17RA):c.1575C>T (p.Leu525=)	23765	IL17RA	Likely benign	756587491	RCV002152954;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589684	17589684	17589684	-
NM_014339.7(IL17RA):c.1580A>G (p.Asp527Gly)	23765	IL17RA	Uncertain significance	-1	RCV002998804;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589689	17589689	NC_000022.10:g.17589689A>G	-
NM_014339.7(IL17RA):c.1604G>A (p.Arg535His)	23765	IL17RA	Uncertain significance	-1	RCV003075829;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589713	17589713	NC_000022.10:g.17589713G>A	-
NM_014339.7(IL17RA):c.1615C>G (p.Leu539Val)	23765	IL17RA	Uncertain significance	2123811782	RCV002028853;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589724	17589724	17589724	-
NM_014339.7(IL17RA):c.1621A>G (p.Met541Val)	23765	IL17RA	Uncertain significance	2123811788	RCV001899231;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589730	17589730	17589730	-
NM_014339.7(IL17RA):c.1632G>C (p.Pro544=)	23765	IL17RA	Conflicting interpretations of pathogenicity	550947413	RCV000267763;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589741	17589741	NC_000022.10:g.17589741G>C	ClinGen:CA10086803	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1632G>A (p.Pro544=)	23765	IL17RA	Likely benign	550947413	RCV001394115;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589741	17589741	17589741	-
NM_014339.7(IL17RA):c.1644C>T (p.His548=)	23765	IL17RA	Likely benign	571087465	RCV002110267;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589753	17589753	17589753	-
NM_014339.7(IL17RA):c.1656G>A (p.Glu552=)	23765	IL17RA	Uncertain significance	746697957	RCV001141818;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589765	17589765	22:g.17589765G>A	-
NM_014339.7(IL17RA):c.1659G>C (p.Leu553=)	23765	IL17RA	Likely benign	1172474978	RCV002092878;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589768	17589768	17589768	-
NM_014339.7(IL17RA):c.1662G>C (p.Ser554=)	23765	IL17RA	Likely benign	777001954	RCV002138859;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589771	17589771	17589771	-
NM_014339.7(IL17RA):c.1670A>G (p.Asn557Ser)	23765	IL17RA	Uncertain significance	1445798719	RCV001315329;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589779	17589779	17589779	-
NM_014339.7(IL17RA):c.1675C>G (p.Leu559Val)	23765	IL17RA	Uncertain significance	751753949	RCV000689416;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589784	17589784	22:g.17589784C>G	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1675C>T (p.Leu559=)	23765	IL17RA	Likely benign	-1	RCV002941988;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589784	17589784		-
NM_014339.7(IL17RA):c.1685C>A (p.Pro562Gln)	23765	IL17RA	Benign	12484684	RCV000315878\|RCV001510884;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589794	17589794	NC_000022.10:g.17589794C>A	ClinGen:CA10086822,UniProtKB:Q96F46#VAR_049176	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1686G>A (p.Pro562=)	23765	IL17RA	Likely benign	550116308	RCV001503378;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589795	17589795	17589795	-
NM_014339.7(IL17RA):c.1686G>T (p.Pro562=)	23765	IL17RA	Likely benign	-1	RCV002846817;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589795	17589795		-
NM_014339.7(IL17RA):c.1689C>T (p.Gly563=)	23765	IL17RA	Benign/Likely benign	146292661	RCV000653463\|RCV001091902;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:C3661900	22	17589798	17589798	NC_000022.10:g.17589798C>T	ClinGen:CA10086825	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1697A>G (p.Gln566Arg)	23765	IL17RA	Uncertain significance	-1	RCV002615601;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589806	17589806	NC_000022.10:g.17589806A>G	-
NM_014339.7(IL17RA):c.1701C>A (p.Leu567=)	23765	IL17RA	Likely benign	1601350118	RCV001396105;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589810	17589810	17589810	-
NM_014339.7(IL17RA):c.1704C>T (p.Arg568=)	23765	IL17RA	Likely benign	746242399	RCV002138569;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589813	17589813	17589813	-
NM_014339.7(IL17RA):c.1707C>T (p.Ala569=)	23765	IL17RA	Likely benign	-1	RCV002633815;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589816	17589816		-
NM_014339.7(IL17RA):c.1716C>G (p.Asp572Glu)	23765	IL17RA	Uncertain significance	549305543	RCV001345487;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589825	17589825	17589825	-
NM_014339.7(IL17RA):c.1724G>A (p.Arg575Gln)	23765	IL17RA	Uncertain significance	1285581737	RCV001204180;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589833	17589833	22:g.17589833G>A	-
NM_014339.7(IL17RA):c.1728C>T (p.Asp576=)	23765	IL17RA	Conflicting interpretations of pathogenicity	767714232	RCV000908527;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589837	17589837	NC_000022.10:g.17589837C>T	ClinGen:CA10086837	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.1735G>T (p.Val579Phe)	23765	IL17RA	Uncertain significance	750666893	RCV001143622\|RCV002557060;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589844	17589844	22:g.17589844G>T	-
NM_014339.7(IL17RA):c.1735G>A (p.Val579Ile)	23765	IL17RA	Uncertain significance	750666893	RCV001959820\|RCV003247191;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589844	17589844	17589844	-
NM_014339.7(IL17RA):c.1738C>T (p.Arg580Cys)	23765	IL17RA	Uncertain significance	764980726	RCV001230132;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589847	17589847	22:g.17589847C>T	-
NM_014339.7(IL17RA):c.1739G>A (p.Arg580His)	23765	IL17RA	Uncertain significance	-1	RCV003095835;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589848	17589848	NC_000022.10:g.17589848G>A	-
NM_014339.7(IL17RA):c.1742G>C (p.Cys581Ser)	23765	IL17RA	Uncertain significance	777862276	RCV001967403;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589851	17589851	17589851	-
NM_014339.7(IL17RA):c.1747G>C (p.Asp583His)	23765	IL17RA	Benign	41432148	RCV000974683;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589856	17589856	22:g.17589856G>C	-
NM_014339.7(IL17RA):c.1749C>G (p.Asp583Glu)	23765	IL17RA	Uncertain significance	770168313	RCV000811936;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589858	17589858	22:g.17589858C>G	-
NM_014339.7(IL17RA):c.1755C>T (p.Phe585=)	23765	IL17RA	Uncertain significance	371055145	RCV001143623;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589864	17589864	22:g.17589864C>T	-
NM_014339.7(IL17RA):c.1756G>A (p.Glu586Lys)	23765	IL17RA	Uncertain significance	925100401	RCV001921007;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589865	17589865	17589865	-
NM_014339.7(IL17RA):c.1758A>G (p.Glu586=)	23765	IL17RA	Likely benign	-1	RCV003116899;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589867	17589867		-
NM_014339.7(IL17RA):c.1768C>G (p.Leu590Val)	23765	IL17RA	Uncertain significance	372238432	RCV000801056;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589877	17589877	22:g.17589877C>G	-
NM_014339.7(IL17RA):c.1768C>T (p.Leu590Phe)	23765	IL17RA	Uncertain significance	-1	RCV002741241;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589877	17589877	NC_000022.10:g.17589877C>T	-
NM_014339.7(IL17RA):c.1770C>T (p.Leu590=)	23765	IL17RA	Likely benign	-1	RCV002881579;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589879	17589879		-
NM_014339.7(IL17RA):c.1772A>C (p.Tyr591Ser)	23765	IL17RA	Uncertain significance	-1	RCV002600024;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589881	17589881	NC_000022.10:g.17589881A>C	-
NM_014339.7(IL17RA):c.1796C>G (p.Pro599Arg)	23765	IL17RA	Uncertain significance	375160919	RCV001941147\|RCV003348648;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17589905	17589905	17589905	-
NM_014339.7(IL17RA):c.1799C>G (p.Ser600Cys)	23765	IL17RA	Uncertain significance	-1	RCV002654917;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589908	17589908	NC_000022.10:g.17589908C>G	-
NM_014339.7(IL17RA):c.1807G>T (p.Glu603Ter)	23765	IL17RA	Uncertain significance	1484936517	RCV001227989;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589916	17589916	22:g.17589916G>T	-
NM_014339.7(IL17RA):c.1813G>A (p.Val605Met)	23765	IL17RA	Uncertain significance	766645390	RCV001051521;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589922	17589922	22:g.17589922G>A	-
NM_014339.7(IL17RA):c.1818dup (p.Glu607Ter)	23765	IL17RA	Uncertain significance	-1	RCV003002919;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589924	17589925	NC_000022.10:g.17589927dup	-
NM_014339.7(IL17RA):c.1819G>A (p.Glu607Lys)	23765	IL17RA	Benign	28376631	RCV000653459\|RCV001726296\|RCV001702710;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:CN169374\|MedGen:C3661900	22	17589928	17589928	22:g.17589928G>A	ClinGen:CA10086859	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1820A>G (p.Glu607Gly)	23765	IL17RA	Uncertain significance	764121162	RCV001917307;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589929	17589929	17589929	-
NM_014339.7(IL17RA):c.1835C>G (p.Pro612Arg)	23765	IL17RA	Uncertain significance	1451038504	RCV000824300;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589944	17589944	22:g.17589944C>G	-
NM_014339.7(IL17RA):c.1835C>T (p.Pro612Leu)	23765	IL17RA	Uncertain significance	-1	RCV002662585;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589944	17589944	NC_000022.10:g.17589944C>T	-
NM_014339.7(IL17RA):c.1837C>G (p.Pro613Ala)	23765	IL17RA	Uncertain significance	-1	RCV002296181;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589946	17589946	17589946	-
NM_014339.7(IL17RA):c.1839G>C (p.Pro613=)	23765	IL17RA	Likely benign	142619020	RCV001451665;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589948	17589948	17589948	-
NM_014339.7(IL17RA):c.1839G>A (p.Pro613=)	23765	IL17RA	Uncertain significance	142619020	RCV001942922;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589948	17589948	17589948	-
NM_014339.7(IL17RA):c.1844C>T (p.Thr615Ile)	23765	IL17RA	Uncertain significance	779695692	RCV001899331;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589953	17589953	17589953	-
NM_014339.7(IL17RA):c.1845C>T (p.Thr615=)	23765	IL17RA	Likely benign	749589459	RCV002123430;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589954	17589954	17589954	-
NM_014339.7(IL17RA):c.1846G>A (p.Gly616Ser)	23765	IL17RA	Uncertain significance	375421722	RCV001897786;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589955	17589955	17589955	-
NM_014339.7(IL17RA):c.1848C>T (p.Gly616=)	23765	IL17RA	Likely benign	576301533	RCV002103539;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589957	17589957	17589957	-
NM_014339.7(IL17RA):c.1852G>T (p.Val618Leu)	23765	IL17RA	Uncertain significance	-1	RCV003087784;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589961	17589961	NC_000022.10:g.17589961G>T	-
NM_014339.7(IL17RA):c.1858C>T (p.Arg620Trp)	23765	IL17RA	Uncertain significance	772665587	RCV001350795;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589967	17589967	17589967	-
NM_014339.7(IL17RA):c.1864_1876del (p.Pro622fs)	23765	IL17RA	Uncertain significance	1601350285	RCV000810129;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589970	17589982	22:g.17589970_17589982del	-
NM_014339.7(IL17RA):c.1862C>A (p.Ala621Glu)	23765	IL17RA	Uncertain significance	200201810	RCV002016691;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589971	17589971	17589971	-
NM_014339.7(IL17RA):c.1874G>A (p.Arg625His)	23765	IL17RA	Uncertain significance	-1	RCV003007237;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17589983	17589983	NC_000022.10:g.17589983G>A	-
NM_014339.7(IL17RA):c.1891G>A (p.Ala631Thr)	23765	IL17RA	Uncertain significance	-1	RCV002958419;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590000	17590000	NC_000022.10:g.17590000G>A	-
NM_014339.7(IL17RA):c.1897C>G (p.Leu633Val)	23765	IL17RA	Likely benign	200880853	RCV000653460;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590006	17590006	22:g.17590006C>G	ClinGen:CA10086878	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1903A>G (p.Ile635Val)	23765	IL17RA	Uncertain significance	2061428011	RCV001218601;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590012	17590012	22:g.17590012A>G	-
NM_014339.7(IL17RA):c.1907A>G (p.Asp636Gly)	23765	IL17RA	Uncertain significance	868771675	RCV001330552;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590016	17590016	17590016	-
NM_014339.7(IL17RA):c.1911G>A (p.Pro637=)	23765	IL17RA	Likely benign	-1	RCV002636291;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590020	17590020		-
NM_014339.7(IL17RA):c.1918G>A (p.Gly640Arg)	23765	IL17RA	Uncertain significance	1221696207	RCV000653451;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590027	17590027	22:g.17590027G>A	ClinGen:CA410219464	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1919G>A (p.Gly640Glu)	23765	IL17RA	Uncertain significance	761619526	RCV001137050\|RCV003163296;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590028	17590028	22:g.17590028G>A	-
NM_014339.7(IL17RA):c.1920G>A (p.Gly640=)	23765	IL17RA	Likely benign	1318818294	RCV001421847;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590029	17590029	17590029	-
NM_014339.7(IL17RA):c.1921G>C (p.Glu641Gln)	23765	IL17RA	Uncertain significance	1453480856	RCV001319191;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590030	17590030	17590030	-
NM_014339.7(IL17RA):c.1924G>A (p.Glu642Lys)	23765	IL17RA	Uncertain significance	-1	RCV002670724;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590033	17590033	NC_000022.10:g.17590033G>A	-
NM_014339.7(IL17RA):c.1925A>G (p.Glu642Gly)	23765	IL17RA	Uncertain significance	1273182117	RCV001967082;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590034	17590034	17590034	-
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu)	23765	IL17RA	Conflicting interpretations of pathogenicity	559058243	RCV001137051;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590037	17590037	22:g.17590037G>A	-
NM_014339.7(IL17RA):c.1931G>C (p.Gly644Ala)	23765	IL17RA	Uncertain significance	749845273	RCV001137052;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590040	17590040	22:g.17590040G>C	-
NM_014339.7(IL17RA):c.1934C>T (p.Ala645Val)	23765	IL17RA	Uncertain significance	755655195	RCV001061183;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590043	17590043	22:g.17590043C>T	-
NM_014339.7(IL17RA):c.1939G>A (p.Val647Met)	23765	IL17RA	Uncertain significance	-1	RCV003040248;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590048	17590048	NC_000022.10:g.17590048G>A	-
NM_014339.7(IL17RA):c.1951G>A (p.Glu651Lys)	23765	IL17RA	Uncertain significance	753549556	RCV000653454\|RCV002534199;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590060	17590060	22:g.17590060G>A	ClinGen:CA10086884	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.1952A>C (p.Glu651Ala)	23765	IL17RA	Uncertain significance	2061428420	RCV001233035;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590061	17590061	22:g.17590061A>C	-
NM_014339.7(IL17RA):c.1954C>A (p.Pro652Thr)	23765	IL17RA	Uncertain significance	1169306314	RCV001971946;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590063	17590063	17590063	-
NM_014339.7(IL17RA):c.1955C>G (p.Pro652Arg)	23765	IL17RA	Uncertain significance	-1	RCV002932489;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590064	17590064	NC_000022.10:g.17590064C>G	-
NM_014339.7(IL17RA):c.1958A>G (p.His653Arg)	23765	IL17RA	Uncertain significance	-1	RCV002942230;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590067	17590067	NC_000022.10:g.17590067A>G	-
NM_014339.7(IL17RA):c.1959C>T (p.His653=)	23765	IL17RA	Likely benign	1032234316	RCV001506074;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590068	17590068	17590068	-
NM_014339.7(IL17RA):c.1970_1993dup (p.Arg657_Pro664dup)	23765	IL17RA	Uncertain significance	1294637470	RCV001773390\|RCV002544156;	N	MedGen:C3661900\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590070	17590071	17590070	-
NM_014339.7(IL17RA):c.1970G>A (p.Arg657Gln)	23765	IL17RA	Uncertain significance	1341181529	RCV001316209;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590079	17590079	17590079	-
NM_014339.7(IL17RA):c.1972G>T (p.Gly658Cys)	23765	IL17RA	Uncertain significance	1218310098	RCV001998104;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590081	17590081	17590081	-
NM_014339.7(IL17RA):c.1974T>C (p.Gly658=)	23765	IL17RA	Likely benign	2123812644	RCV001475727;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590083	17590083	17590083	-
NM_014339.7(IL17RA):c.1977G>A (p.Gln659=)	23765	IL17RA	Likely benign	-1	RCV002626739;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590086	17590086		-
NM_014339.7(IL17RA):c.1979C>T (p.Pro660Leu)	23765	IL17RA	Uncertain significance	1265981258	RCV001369464;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590088	17590088	17590088	-
NM_014339.7(IL17RA):c.1983G>A (p.Ala661=)	23765	IL17RA	Likely benign	-1	RCV002596320;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590092	17590092		-
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=)	23765	IL17RA	Uncertain significance	990617336	RCV001137053;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590095	17590095	22:g.17590095G>A	-
NM_014339.7(IL17RA):c.1992C>T (p.Pro664=)	23765	IL17RA	Likely benign	1416867943	RCV001418165;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590101	17590101	17590101	-
NM_014339.7(IL17RA):c.2000C>G (p.Thr667Ser)	23765	IL17RA	Uncertain significance	748566718	RCV001930751\|RCV003167174;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590109	17590109	17590109	-
NM_014339.7(IL17RA):c.2008C>T (p.Leu670Phe)	23765	IL17RA	Uncertain significance	2061428792	RCV001309922;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590117	17590117	17590117	-
NM_014339.7(IL17RA):c.2010C>T (p.Leu670=)	23765	IL17RA	Likely benign	1300567909	RCV002078205;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590119	17590119	17590119	-
NM_014339.7(IL17RA):c.2011G>A (p.Ala671Thr)	23765	IL17RA	Uncertain significance	-1	RCV002623411;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590120	17590120	NC_000022.10:g.17590120G>A	-
NM_014339.7(IL17RA):c.2014G>A (p.Ala672Thr)	23765	IL17RA	Uncertain significance	-1	RCV002741746;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590123	17590123	NC_000022.10:g.17590123G>A	-
NM_014339.7(IL17RA):c.2015C>G (p.Ala672Gly)	23765	IL17RA	Uncertain significance	1195489020	RCV002025510;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590124	17590124	17590124	-
NM_014339.7(IL17RA):c.2031G>T (p.Leu677=)	23765	IL17RA	Likely benign	1229080070	RCV001446610;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590140	17590140	17590140	-
NM_014339.7(IL17RA):c.2038G>T (p.Ala680Ser)	23765	IL17RA	Uncertain significance	181468995	RCV000337950\|RCV002523207;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590147	17590147	NC_000022.10:g.17590147G>T	ClinGen:CA10086889	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2053C>A (p.Pro685Thr)	23765	IL17RA	Uncertain significance	-1	RCV002736726\|RCV003308259;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590162	17590162	NC_000022.10:g.17590162C>A	-
NM_014339.7(IL17RA):c.2055C>T (p.Pro685=)	23765	IL17RA	Likely benign	771190943	RCV002097413;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590164	17590164	17590164	-
NM_014339.7(IL17RA):c.2071G>A (p.Ala691Thr)	23765	IL17RA	Benign	41323645	RCV000385365\|RCV001513309;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590180	17590180	NC_000022.10:g.17590180G>A	ClinGen:CA10086895	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2076C>T (p.Val692=)	23765	IL17RA	Likely benign	529543548	RCV000911219;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590185	17590185	22:g.17590185C>T	-
NM_014339.7(IL17RA):c.2077C>T (p.Arg693Trp)	23765	IL17RA	Uncertain significance	767291636	RCV000653452;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590186	17590186	22:g.17590186C>T	ClinGen:CA10086897	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2078G>C (p.Arg693Pro)	23765	IL17RA	Uncertain significance	-1	RCV002903401;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590187	17590187	NC_000022.10:g.17590187G>C	-
NM_014339.7(IL17RA):c.2084C>T (p.Ala695Val)	23765	IL17RA	Uncertain significance	765911585	RCV001043404\|RCV002552525;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590193	17590193	22:g.17590193C>T	-
NM_014339.7(IL17RA):c.2086C>A (p.Leu696Met)	23765	IL17RA	Uncertain significance	886057204	RCV000818166;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590195	17590195	NC_000022.10:g.17590195C>A	ClinGen:CA10653142	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2087T>G (p.Leu696Arg)	23765	IL17RA	Uncertain significance	753376068	RCV000653450;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590196	17590196	22:g.17590196T>G	ClinGen:CA10086901	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2090C>T (p.Ala697Val)	23765	IL17RA	Uncertain significance	754574936	RCV001952970;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590199	17590199	17590199	-
NM_014339.7(IL17RA):c.2098G>A (p.Gly700Ser)	23765	IL17RA	Uncertain significance	-1	RCV002995934;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590207	17590207	NC_000022.10:g.17590207G>A	-
NM_014339.7(IL17RA):c.2099G>A (p.Gly700Asp)	23765	IL17RA	Uncertain significance	999219961	RCV001913344\|RCV002555632;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590208	17590208	17590208	-
NM_014339.7(IL17RA):c.2100C>T (p.Gly700=)	23765	IL17RA	Likely benign	566222386	RCV002022204;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590209	17590209	17590209	-
NM_014339.7(IL17RA):c.2109C>T (p.Cys703=)	23765	IL17RA	Likely benign	-1	RCV003028680;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590218	17590218		-
NM_014339.7(IL17RA):c.2111C>T (p.Pro704Leu)	23765	IL17RA	Uncertain significance	747597787	RCV000804903;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590220	17590220	22:g.17590220C>T	-
NM_014339.7(IL17RA):c.2115G>A (p.Leu705=)	23765	IL17RA	Likely benign	1032181997	RCV001474443;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590224	17590224	17590224	-
NM_014339.7(IL17RA):c.2125C>A (p.Pro709Thr)	23765	IL17RA	Uncertain significance	2061429644	RCV001345145;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590234	17590234	17590234	-
NM_014339.7(IL17RA):c.2126C>T (p.Pro709Leu)	23765	IL17RA	Uncertain significance	757383824	RCV001247819;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590235	17590235	22:g.17590235C>T	-
NM_014339.7(IL17RA):c.2126C>G (p.Pro709Arg)	23765	IL17RA	Uncertain significance	-1	RCV002572031;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590235	17590235	NC_000022.10:g.17590235C>G	-
NM_014339.7(IL17RA):c.2127G>A (p.Pro709=)	23765	IL17RA	Likely benign	781384752	RCV002195551;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590236	17590236	17590236	-
NM_014339.7(IL17RA):c.2128G>A (p.Gly710Ser)	23765	IL17RA	Uncertain significance	1223546319	RCV000704154;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590237	17590237	22:g.17590237G>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2131G>A (p.Ala711Thr)	23765	IL17RA	Uncertain significance	1361983195	RCV001054874;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590240	17590240	22:g.17590240G>A	-
NM_014339.7(IL17RA):c.2144G>A (p.Ser715Asn)	23765	IL17RA	Uncertain significance	747892404	RCV000696236;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590253	17590253	22:g.17590253G>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2146G>A (p.Val716Ile)	23765	IL17RA	Uncertain significance	771961316	RCV001325576\|RCV002546132;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590255	17590255	17590255	-
NM_014339.7(IL17RA):c.2148C>T (p.Val716=)	23765	IL17RA	Likely benign	-1	RCV002971923;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590257	17590257		-
NM_014339.7(IL17RA):c.2152T>G (p.Phe718Val)	23765	IL17RA	Uncertain significance	-1	RCV003078880\|RCV003078879;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590261	17590261	NC_000022.10:g.17590261T>G	-
NM_014339.7(IL17RA):c.2155C>T (p.Leu719Phe)	23765	IL17RA	Uncertain significance	-1	RCV003083670;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590264	17590264	NC_000022.10:g.17590264C>T	-
NM_014339.7(IL17RA):c.2159C>T (p.Pro720Leu)	23765	IL17RA	Uncertain significance	928752107	RCV001900950;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590268	17590268	17590268	-
NM_014339.7(IL17RA):c.2160C>T (p.Pro720=)	23765	IL17RA	Benign	4819555	RCV000350688\|RCV000455657\|RCV001718722\|RCV001510217;	N	MedGen:CN239217\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590269	17590269	NC_000022.10:g.17590269C>T	ClinGen:CA10086922	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2160C>G (p.Pro720=)	23765	IL17RA	Likely benign	4819555	RCV001452224;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590269	17590269	17590269	-
NM_014339.7(IL17RA):c.2161G>A (p.Val721Met)	23765	IL17RA	Uncertain significance	369516280	RCV001064076;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590270	17590270	22:g.17590270G>A	-
NM_014339.7(IL17RA):c.2165A>G (p.Asp722Gly)	23765	IL17RA	Uncertain significance	1220150798	RCV001205106;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590274	17590274	22:g.17590274A>G	-
NM_014339.7(IL17RA):c.2170G>A (p.Glu724Lys)	23765	IL17RA	Uncertain significance	149717999	RCV001368712;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590279	17590279	17590279	-
NM_014339.7(IL17RA):c.2176T>G (p.Ser726Ala)	23765	IL17RA	Uncertain significance	145526959	RCV001214639;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590285	17590285	22:g.17590285T>G	-
NM_014339.7(IL17RA):c.2177C>T (p.Ser726Leu)	23765	IL17RA	Uncertain significance	756332306	RCV000693665\|RCV002523208;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590286	17590286	22:g.17590286C>T	ClinGen:CA10086928	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2178G>T (p.Ser726=)	23765	IL17RA	Uncertain significance	1261613548	RCV001139300;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590287	17590287	22:g.17590287G>T	-
NM_014339.7(IL17RA):c.2181C>T (p.Pro727=)	23765	IL17RA	Likely benign	749575857	RCV001399328;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590290	17590290	17590290	-
NM_014339.7(IL17RA):c.2182C>T (p.Leu728Phe)	23765	IL17RA	Uncertain significance	-1	RCV002726389;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590291	17590291	NC_000022.10:g.17590291C>T	-
NM_014339.7(IL17RA):c.2186G>A (p.Gly729Asp)	23765	IL17RA	Uncertain significance	2061430229	RCV001307445;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590295	17590295	17590295	-
NM_014339.7(IL17RA):c.2188A>G (p.Ser730Gly)	23765	IL17RA	Uncertain significance	1372676490	RCV001591693\|RCV002573303;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590297	17590297	17590297	-
NM_014339.7(IL17RA):c.2194del (p.Thr732fs)	23765	IL17RA	Uncertain significance	2061430300	RCV001209049;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590303	17590303	22:g.17590303_17590303del	-
NM_014339.7(IL17RA):c.2198C>G (p.Pro733Arg)	23765	IL17RA	Uncertain significance	41358047	RCV000653448\|RCV002534198;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590307	17590307	22:g.17590307C>G	ClinGen:CA10086933	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2200A>G (p.Met734Val)	23765	IL17RA	Uncertain significance	746817140	RCV001351959;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590309	17590309	17590309	-
NM_014339.7(IL17RA):c.2203G>A (p.Ala735Thr)	23765	IL17RA	Uncertain significance	2123813088	RCV002040538;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590312	17590312	17590312	-
NM_014339.7(IL17RA):c.2204C>T (p.Ala735Val)	23765	IL17RA	Uncertain significance	-1	RCV002829664;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590313	17590313	NC_000022.10:g.17590313C>T	-
NM_014339.7(IL17RA):c.2214CCT[1] (p.Leu740del)	23765	IL17RA	Uncertain significance	759229877	RCV000797040;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590323	17590325	22:g.17590323_17590325del	-
NM_014339.7(IL17RA):c.2215C>G (p.Leu739Val)	23765	IL17RA	Uncertain significance	774973347	RCV001299199;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590324	17590324	17590324	-
NM_014339.7(IL17RA):c.2221C>A (p.Pro741Thr)	23765	IL17RA	Uncertain significance	1245969526	RCV000821783;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590330	17590330	22:g.17590330C>A	-
NM_014339.7(IL17RA):c.2229C>G (p.Asp743Glu)	23765	IL17RA	Uncertain significance	768137463	RCV002001525;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590338	17590338	17590338	-
NM_014339.7(IL17RA):c.2232G>A (p.Val744=)	23765	IL17RA	Likely benign	756128734	RCV001434080;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590341	17590341	17590341	-
NM_014339.7(IL17RA):c.2234G>C (p.Arg745Thr)	23765	IL17RA	Uncertain significance	780225029	RCV001947872\|RCV003167189;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590343	17590343	17590343	-
NM_014339.7(IL17RA):c.2239C>A (p.His747Asn)	23765	IL17RA	Uncertain significance	753883526	RCV000653453;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590348	17590348	22:g.17590348C>A	ClinGen:CA410221447	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2241C>T (p.His747=)	23765	IL17RA	Likely benign	755167896	RCV001461535;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590350	17590350	17590350	-
NM_014339.7(IL17RA):c.2242C>T (p.Leu748Phe)	23765	IL17RA	Uncertain significance	1444953023	RCV001236354\|RCV001760249;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:CN517202	22	17590351	17590351	22:g.17590351C>T	-
NM_014339.7(IL17RA):c.2244C>T (p.Leu748=)	23765	IL17RA	Likely benign	1162857270	RCV001471249;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590353	17590353	17590353	-
NM_014339.7(IL17RA):c.2245G>A (p.Glu749Lys)	23765	IL17RA	Uncertain significance	779004550	RCV000307280;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590354	17590354	22:g.17590354G>A	ClinGen:CA10086951	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2245G>C (p.Glu749Gln)	23765	IL17RA	Uncertain significance	-1	RCV002971474;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590354	17590354	NC_000022.10:g.17590354G>C	-
NM_014339.7(IL17RA):c.2252T>G (p.Leu751Trp)	23765	IL17RA	Uncertain significance	-1	RCV003023337;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590361	17590361	NC_000022.10:g.17590361T>G	-
NM_014339.7(IL17RA):c.2258T>G (p.Leu753Arg)	23765	IL17RA	Uncertain significance	746798811	RCV001934066;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590367	17590367	17590367	-
NM_014339.7(IL17RA):c.2264T>C (p.Leu755Pro)	23765	IL17RA	Likely benign	574409116	RCV000967720;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590373	17590373	22:g.17590373T>C	-
NM_014339.7(IL17RA):c.2268C>T (p.Phe756=)	23765	IL17RA	Likely benign	113571926	RCV000546045;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590377	17590377	NC_000022.10:g.17590377C>T	ClinGen:CA10086956	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2268C>A (p.Phe756Leu)	23765	IL17RA	Uncertain significance	113571926	RCV001234732;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590377	17590377	22:g.17590377C>A	-
NM_014339.7(IL17RA):c.2273A>G (p.Gln758Arg)	23765	IL17RA	Uncertain significance	-1	RCV003029498;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590382	17590382	NC_000022.10:g.17590382A>G	-
NM_014339.7(IL17RA):c.2274G>C (p.Gln758His)	23765	IL17RA	Uncertain significance	1260284396	RCV001218432;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590383	17590383	22:g.17590383G>C	-
NM_014339.7(IL17RA):c.2276G>A (p.Ser759Asn)	23765	IL17RA	Uncertain significance	-1	RCV003019184;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590385	17590385	NC_000022.10:g.17590385G>A	-
NM_014339.7(IL17RA):c.2280G>A (p.Leu760=)	23765	IL17RA	Likely benign	-1	RCV002618279;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590389	17590389		-
NM_014339.7(IL17RA):c.2295G>A (p.Gln765=)	23765	IL17RA	Benign	41482444	RCV000557593;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590404	17590404	22:g.17590404G>A	ClinGen:CA10086962	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2296G>A (p.Gly766Arg)	23765	IL17RA	Uncertain significance	779762104	RCV001035310;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590405	17590405	22:g.17590405G>A	-
NM_014339.7(IL17RA):c.2296G>C (p.Gly766Arg)	23765	IL17RA	Uncertain significance	-1	RCV002579094;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590405	17590405	NC_000022.10:g.17590405G>C	-
NM_014339.7(IL17RA):c.2297G>A (p.Gly766Glu)	23765	IL17RA	Uncertain significance	1450910603	RCV001324645;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590406	17590406	17590406	-
NM_014339.7(IL17RA):c.2300G>A (p.Gly767Asp)	23765	IL17RA	Uncertain significance	1568924302	RCV001063944;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590409	17590409	22:g.17590409G>A	-
NM_014339.7(IL17RA):c.2307T>C (p.Ser769=)	23765	IL17RA	Likely benign	-1	RCV002715727;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590416	17590416		-
NM_014339.7(IL17RA):c.2314G>A (p.Ala772Thr)	23765	IL17RA	Uncertain significance	-1	RCV002966880;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590423	17590423	NC_000022.10:g.17590423G>A	-
NM_014339.7(IL17RA):c.2317A>G (p.Met773Val)	23765	IL17RA	Uncertain significance	776536038	RCV001215516;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590426	17590426	22:g.17590426A>G	-
NM_014339.7(IL17RA):c.2318T>C (p.Met773Thr)	23765	IL17RA	Uncertain significance	577326347	RCV001223163;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590427	17590427	22:g.17590427T>C	-
NM_014339.7(IL17RA):c.2318T>G (p.Met773Arg)	23765	IL17RA	Uncertain significance	-1	RCV003029825;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590427	17590427	NC_000022.10:g.17590427T>G	-
NM_014339.7(IL17RA):c.2322C>G (p.Val774=)	23765	IL17RA	Likely benign	752964682	RCV001459220;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590431	17590431	17590431	-
NM_014339.7(IL17RA):c.2332C>T (p.Pro778Ser)	23765	IL17RA	Uncertain significance	147554210	RCV000653444;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590441	17590441	22:g.17590441C>T	ClinGen:CA10086972	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2340G>A (p.Thr780=)	23765	IL17RA	Likely benign	1036149872	RCV002161767;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590449	17590449	17590449	-
NM_014339.7(IL17RA):c.2346C>T (p.Tyr782=)	23765	IL17RA	Likely benign	768113694	RCV002210004;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590455	17590455	17590455	-
NM_014339.7(IL17RA):c.2361G>A (p.Arg787=)	23765	IL17RA	Likely benign	141859292	RCV001499366;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590470	17590470	17590470	-
NM_014339.7(IL17RA):c.2380C>G (p.Gln794Glu)	23765	IL17RA	Uncertain significance	-1	RCV003080433;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590489	17590489	NC_000022.10:g.17590489C>G	-
NM_014339.7(IL17RA):c.2389A>G (p.Ile797Val)	23765	IL17RA	Benign	74827998	RCV000908815;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590498	17590498	22:g.17590498A>G	-
NM_014339.7(IL17RA):c.2391C>T (p.Ile797=)	23765	IL17RA	Likely benign	575142705	RCV001405056;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590500	17590500	17590500	-
NM_014339.7(IL17RA):c.2403C>G (p.Ser801=)	23765	IL17RA	Likely benign	1170238029	RCV001465775;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590512	17590512	17590512	-
NM_014339.7(IL17RA):c.2406G>A (p.Pro802=)	23765	IL17RA	Benign	41356751	RCV000529088;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590515	17590515	NC_000022.10:g.17590515G>A	ClinGen:CA10086983	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2409G>C (p.Gln803His)	23765	IL17RA	Uncertain significance	1365038211	RCV001052138;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590518	17590518	22:g.17590518G>C	-
NM_014339.7(IL17RA):c.2416G>A (p.Glu806Lys)	23765	IL17RA	Uncertain significance	-1	RCV002721648;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590525	17590525	NC_000022.10:g.17590525G>A	-
NM_014339.7(IL17RA):c.2431_2439del (p.Met811_Glu813del)	23765	IL17RA	Uncertain significance	749121666	RCV001209388;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590536	17590544	22:g.17590536_17590544del	-
NM_014339.7(IL17RA):c.2428G>A (p.Glu810Lys)	23765	IL17RA	Uncertain significance	1601351180	RCV000795140;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590537	17590537	22:g.17590537G>A	-
NM_014339.7(IL17RA):c.2437GAAGAGGAG[3] (p.Glu816_Glu818dup)	23765	IL17RA	Uncertain significance	551742239	RCV001372641;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590541	17590542	17590541	-
NM_014339.7(IL17RA):c.2437GAAGAGGAG[1] (p.Glu816_Glu818del)	23765	IL17RA	Likely benign	551742239	RCV000546398\|RCV001729641;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MedGen:CN517202	22	17590542	17590550	NC_000022.10:g.17590546GAAGAGGAG[1]	ClinGen:CA10086990	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2440G>A (p.Glu814Lys)	23765	IL17RA	Uncertain significance	758565677	RCV000823573;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590549	17590549	22:g.17590549G>A	-
NM_014339.7(IL17RA):c.2441A>G (p.Glu814Gly)	23765	IL17RA	Uncertain significance	1486018314	RCV001359575;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590550	17590550	17590550	-
NM_014339.7(IL17RA):c.2443G>A (p.Glu815Lys)	23765	IL17RA	Uncertain significance	181691316	RCV001944126;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590552	17590552	17590552	-
NM_014339.7(IL17RA):c.2446G>A (p.Glu816Lys)	23765	IL17RA	Uncertain significance	1404382349	RCV001914615;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590555	17590555	17590555	-
NM_014339.7(IL17RA):c.2448A>G (p.Glu816=)	23765	IL17RA	Likely benign	-1	RCV002625459;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590557	17590557		-
NM_014339.7(IL17RA):c.2449G>A (p.Glu817Lys)	23765	IL17RA	Uncertain significance	-1	RCV003091131;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590558	17590558	NC_000022.10:g.17590558G>A	-
NM_014339.7(IL17RA):c.2456A>G (p.Gln819Arg)	23765	IL17RA	Uncertain significance	2061432294	RCV001369796;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590565	17590565	17590565	-
NM_014339.7(IL17RA):c.2462C>T (p.Pro821Leu)	23765	IL17RA	Uncertain significance	2123813612	RCV001938472;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590571	17590571	17590571	-
NM_014339.7(IL17RA):c.2466G>A (p.Gly822=)	23765	IL17RA	Conflicting interpretations of pathogenicity	373070776	RCV000898296;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590575	17590575	22:g.17590575G>A	ClinGen:CA10086997	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2471C>T (p.Pro824Leu)	23765	IL17RA	Uncertain significance	749236026	RCV001942634;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590580	17590580	17590580	-
NM_014339.7(IL17RA):c.2471C>A (p.Pro824Gln)	23765	IL17RA	Uncertain significance	-1	RCV002938627;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590580	17590580	NC_000022.10:g.17590580C>A	-
NM_014339.7(IL17RA):c.2472G>C (p.Pro824=)	23765	IL17RA	Likely benign	868722418	RCV002091421;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590581	17590581	17590581	-
NM_014339.7(IL17RA):c.2472G>A (p.Pro824=)	23765	IL17RA	Likely benign	868722418	RCV002189262;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590581	17590581	17590581	-
NM_014339.7(IL17RA):c.2476C>G (p.Leu826Val)	23765	IL17RA	Uncertain significance	1568924494	RCV000693207;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590585	17590585	NC_000022.10:g.17590585C>G	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2476C>T (p.Leu826=)	23765	IL17RA	Likely benign	1568924494	RCV001419893;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590585	17590585	22:g.17590585C>T	-
NM_014339.7(IL17RA):c.2478G>A (p.Leu826=)	23765	IL17RA	Likely benign	2123813662	RCV002132969;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590587	17590587	17590587	-
NM_014339.7(IL17RA):c.2481A>G (p.Pro827=)	23765	IL17RA	Likely benign	-1	RCV002931898;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590590	17590590		-
NM_014339.7(IL17RA):c.2483T>A (p.Leu828His)	23765	IL17RA	Uncertain significance	373598318	RCV000811821;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590592	17590592	22:g.17590592T>A	-
NM_014339.7(IL17RA):c.2486C>T (p.Ser829Phe)	23765	IL17RA	Uncertain significance	2061432498	RCV001064312;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590595	17590595	22:g.17590595C>T	-
NM_014339.7(IL17RA):c.2487T>C (p.Ser829=)	23765	IL17RA	Likely benign	2123813689	RCV002169339;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590596	17590596	17590596	-
NM_014339.7(IL17RA):c.2490C>T (p.Pro830=)	23765	IL17RA	Benign/Likely benign	3804060	RCV000310633\|RCV000558804;	N	MedGen:CN239217\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590599	17590599	22:g.17590599C>T	ClinGen:CA10087003	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.2491G>A (p.Glu831Lys)	23765	IL17RA	Uncertain significance	-1	RCV003076433;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590600	17590600	NC_000022.10:g.17590600G>A	-
NM_014339.7(IL17RA):c.2507T>C (p.Leu836Pro)	23765	IL17RA	Uncertain significance	1462952056	RCV001903692;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590616	17590616	17590616	-
NM_014339.7(IL17RA):c.2511G>A (p.Arg837=)	23765	IL17RA	Likely benign	-1	RCV002790891;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590620	17590620		-
NM_014339.7(IL17RA):c.2522G>A (p.Arg841Gln)	23765	IL17RA	Uncertain significance	906456948	RCV001040185;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590631	17590631	22:g.17590631G>A	-
NM_014339.7(IL17RA):c.2541G>A (p.Gln847=)	23765	IL17RA	Likely benign	372715033	RCV000914889;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590650	17590650	22:g.17590650G>A	-
NM_014339.7(IL17RA):c.2546A>G (p.Gln849Arg)	23765	IL17RA	Uncertain significance	-1	RCV002580102;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590655	17590655	NC_000022.10:g.17590655A>G	-
NM_014339.7(IL17RA):c.2553C>A (p.Asn851Lys)	23765	IL17RA	Uncertain significance	1281144372	RCV000692392\|RCV003258927;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590662	17590662	22:g.17590662C>A	-	C3151402 613953 Immunodeficiency 51;
NM_014339.7(IL17RA):c.2556G>C (p.Ser852=)	23765	IL17RA	Likely benign	753701908	RCV001404469;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590665	17590665	17590665	-
NM_014339.7(IL17RA):c.2556G>T (p.Ser852=)	23765	IL17RA	Likely benign	753701908	RCV002150594;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590665	17590665	17590665	-
NM_014339.7(IL17RA):c.2557G>A (p.Gly853Ser)	23765	IL17RA	Uncertain significance	952667528	RCV001996863;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590666	17590666	17590666	-
NM_014339.7(IL17RA):c.2568G>A (p.Thr856=)	23765	IL17RA	Likely benign	754917156	RCV002191202;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590677	17590677	17590677	-
NM_014339.7(IL17RA):c.2587G>A (p.Gly863Arg)	23765	IL17RA	Uncertain significance	778995730	RCV001070418;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590696	17590696	22:g.17590696G>A	-
NM_014339.7(IL17RA):c.2588G>C (p.Gly863Ala)	23765	IL17RA	Uncertain significance	-1	RCV003060534;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590697	17590697	NC_000022.10:g.17590697G>C	-
NM_014339.7(IL17RA):c.2596G>A (p.Ala866Thr)	23765	IL17RA	Uncertain significance	752247864	RCV001245695\|RCV002568630;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334\|MeSH:D030342,MedGen:C0950123	22	17590705	17590705	22:g.17590705G>A	-
NM_014339.7(IL17RA):c.*58G>A	23765	IL17RA	Uncertain significance	886057205	RCV000266278;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590768	17590768	22:g.17590768G>A	ClinGen:CA10644980	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*211A>G	23765	IL17RA	Uncertain significance	886057207	RCV000259832;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590921	17590921	22:g.17590921A>G	ClinGen:CA10653770	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*238G>C	23765	IL17RA	Benign	143922111	RCV000317376;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590948	17590948	22:g.17590948G>C	ClinGen:CA10653771	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*249A>C	23765	IL17RA	Benign	5994164	RCV000374421;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17590959	17590959	22:g.17590959A>C	ClinGen:CA10653772	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*320A>G	23765	IL17RA	Likely benign	577387326	RCV001137171;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591030	17591030	22:g.17591030A>G	-
NM_014339.7(IL17RA):c.*352G>A	23765	IL17RA	Uncertain significance	754263270	RCV000263454;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591062	17591062	NC_000022.10:g.17591062G>A	ClinGen:CA10653143	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*399C>T	23765	IL17RA	Likely benign	12157751	RCV001137172;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591109	17591109	22:g.17591109C>T	-
NM_014339.7(IL17RA):c.*414A>G	23765	IL17RA	Uncertain significance	886057208	RCV000387203;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591124	17591124	22:g.17591124A>G	ClinGen:CA10644981	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*494A>G	23765	IL17RA	Uncertain significance	1289621476	RCV001139410;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591204	17591204	22:g.17591204A>G	-
NM_014339.7(IL17RA):c.*626C>T	23765	IL17RA	Uncertain significance	972148608	RCV001139411;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591336	17591336	22:g.17591336C>T	-
NM_014339.7(IL17RA):c.*627G>A	23765	IL17RA	Uncertain significance	771009907	RCV001139412;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591337	17591337	22:g.17591337G>A	-
NM_014339.7(IL17RA):c.*643A>T	23765	IL17RA	Uncertain significance	1194255362	RCV001139413;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591353	17591353	22:g.17591353A>T	-
NM_014339.7(IL17RA):c.*665G>A	23765	IL17RA	Uncertain significance	1272634665	RCV001142038;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591375	17591375	22:g.17591375G>A	-
NM_014339.7(IL17RA):c.*803G>A	23765	IL17RA	Benign	12158721	RCV001142039;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591513	17591513	22:g.17591513G>A	-
NM_014339.7(IL17RA):c.*821C>T	23765	IL17RA	Uncertain significance	181804525	RCV000341264;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591531	17591531	NC_000022.10:g.17591531C>T	ClinGen:CA10653148	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*832G>T	23765	IL17RA	Uncertain significance	1382022057	RCV001142040;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591542	17591542	22:g.17591542G>T	-
NM_014339.7(IL17RA):c.*900G>A	23765	IL17RA	Uncertain significance	1327480980	RCV001142041;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591610	17591610	22:g.17591610G>A	-
NM_014339.7(IL17RA):c.*973A>G	23765	IL17RA	Uncertain significance	747949566	RCV000394590;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591683	17591683	NC_000022.10:g.17591683A>G	ClinGen:CA10650800	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1066C>T	23765	IL17RA	Uncertain significance	75870648	RCV000261923;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591776	17591776	NC_000022.10:g.17591776C>T	ClinGen:CA10653790	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1067G>T	23765	IL17RA	Uncertain significance	866985543	RCV001143843;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591777	17591777	22:g.17591777G>T	-
NM_014339.7(IL17RA):c.*1077C>T	23765	IL17RA	Uncertain significance	964969985	RCV001143844;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591787	17591787	22:g.17591787C>T	-
NM_014339.7(IL17RA):c.*1085A>C	23765	IL17RA	Uncertain significance	2061439839	RCV001143845;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591795	17591795	22:g.17591795A>C	-
NM_014339.7(IL17RA):c.*1090G>C	23765	IL17RA	Uncertain significance	886057214	RCV000367072;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591800	17591800	NC_000022.10:g.17591800G>C	ClinGen:CA10653153	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1093T>C	23765	IL17RA	Uncertain significance	886057215	RCV000275018;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591803	17591803	NC_000022.10:g.17591803T>C	ClinGen:CA10644987	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1161T>G	23765	IL17RA	Uncertain significance	541762208	RCV001137280;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591871	17591871	22:g.17591871T>G	-
NM_014339.7(IL17RA):c.*1194C>T	23765	IL17RA	Uncertain significance	2061440264	RCV001137281;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17591904	17591904	22:g.17591904C>T	-
NM_014339.7(IL17RA):c.*1320A>G	23765	IL17RA	Uncertain significance	886057216	RCV000269177;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592030	17592030	NC_000022.10:g.17592030A>G	ClinGen:CA10653791	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1338G>A	23765	IL17RA	Likely benign	192058258	RCV001139530;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592048	17592048	22:g.17592048G>A	-
NM_014339.7(IL17RA):c.*1373C>T	23765	IL17RA	Uncertain significance	2061441307	RCV001139531;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592083	17592083	22:g.17592083C>T	-
NM_014339.7(IL17RA):c.*1379A>T	23765	IL17RA	Benign	5992627	RCV000326689;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592089	17592089	NC_000022.10:g.17592089A>T	ClinGen:CA10653154	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1431A>G	23765	IL17RA	Uncertain significance	886057217	RCV000383566;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592141	17592141	NC_000022.10:g.17592141A>G	ClinGen:CA10653792	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1480G>A	23765	IL17RA	Uncertain significance	182884770	RCV000291647;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592190	17592190	NC_000022.10:g.17592190G>A	ClinGen:CA10653797	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1526G>A	23765	IL17RA	Uncertain significance	372204111	RCV001140295;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592236	17592236	22:g.17592236G>A	-
NM_014339.7(IL17RA):c.*1641C>T	23765	IL17RA	Uncertain significance	886057218	RCV000320956;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592351	17592351	NC_000022.10:g.17592351C>T	ClinGen:CA10650802	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1686G>A	23765	IL17RA	Likely benign	144428545	RCV000377950;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592396	17592396	NC_000022.10:g.17592396G>A	ClinGen:CA10650806	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1826A>G	23765	IL17RA	Uncertain significance	886057219	RCV000279596;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592536	17592536	NC_000022.10:g.17592536A>G	ClinGen:CA10653155	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*1861G>A	23765	IL17RA	Uncertain significance	886057220	RCV000334629;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592571	17592571	NC_000022.10:g.17592571G>A	ClinGen:CA10644990	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2066G>C	23765	IL17RA	Benign	375958748	RCV000404661;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592776	17592776	NC_000022.10:g.17592776G>C	ClinGen:CA10653156	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2111C>T	23765	IL17RA	Benign	114684847	RCV001142130;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592821	17592821	22:g.17592821C>T	-
NM_014339.7(IL17RA):c.*2112C>T	23765	IL17RA	Benign	12159073	RCV001142131;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592822	17592822	22:g.17592822C>T	-
NM_014339.7(IL17RA):c.*2128A>G	23765	IL17RA	Uncertain significance	1164039756	RCV001142132;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592838	17592838	22:g.17592838A>G	-
NM_014339.7(IL17RA):c.*2141C>T	23765	IL17RA	Uncertain significance	550573977	RCV000340346;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592851	17592851	NC_000022.10:g.17592851C>T	ClinGen:CA10653158	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2163G>C	23765	IL17RA	Benign	543545127	RCV000397750;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17592873	17592873	NC_000022.10:g.17592873G>C	ClinGen:CA10653159	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2291C>T	23765	IL17RA	Uncertain significance	533866564	RCV001137396;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593001	17593001	22:g.17593001C>T	-
NM_014339.7(IL17RA):c.*2329G>A	23765	IL17RA	Uncertain significance	1056127571	RCV001137397;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593039	17593039	22:g.17593039G>A	-
NM_014339.7(IL17RA):c.*2344C>G	23765	IL17RA	Uncertain significance	4563337	RCV001137398;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593054	17593054	22:g.17593054C>G	-
NM_014339.7(IL17RA):c.*2512C>A	23765	IL17RA	Uncertain significance	539337199	RCV000330543;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593222	17593222	22:g.17593222C>A	ClinGen:CA10653801	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2566C>T	23765	IL17RA	Uncertain significance	886057221	RCV000357322;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593276	17593276	22:g.17593276C>T	ClinGen:CA10653160	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2591C>T	23765	IL17RA	Uncertain significance	775318044	RCV000317846;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593301	17593301	22:g.17593301C>T	ClinGen:CA10645002	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2603C>T	23765	IL17RA	Likely benign	192250812	RCV001139632;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593313	17593313	22:g.17593313C>T	-
NM_014339.7(IL17RA):c.*2703G>A	23765	IL17RA	Uncertain significance	189556719	RCV000287386;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593413	17593413	22:g.17593413G>A	ClinGen:CA10653161	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2844A>G	23765	IL17RA	Uncertain significance	144892452	RCV000347726;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593554	17593554	22:g.17593554A>G	ClinGen:CA10645009	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2859C>T	23765	IL17RA	Uncertain significance	562668645	RCV000404798;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593569	17593569	22:g.17593569C>T	ClinGen:CA10650811	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2963C>T	23765	IL17RA	Uncertain significance	886057224	RCV000289590;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593673	17593673	22:g.17593673C>T	ClinGen:CA10653163	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*2986G>A	23765	IL17RA	Uncertain significance	941175830	RCV001140394;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593696	17593696	22:g.17593696G>A	-
NM_014339.7(IL17RA):c.*3024G>A	23765	IL17RA	Uncertain significance	1311790630	RCV001142251;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593734	17593734	22:g.17593734G>A	-
NM_014339.7(IL17RA):c.*3058G>C	23765	IL17RA	Uncertain significance	570509509	RCV001142252;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593768	17593768	22:g.17593768G>C	-
NM_014339.7(IL17RA):c.*3060A>G	23765	IL17RA	Benign	12157837	RCV000405443;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593770	17593770	22:g.17593770A>G	ClinGen:CA10650814	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3071A>G	23765	IL17RA	Uncertain significance	759654015	RCV001142253;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593781	17593781	22:g.17593781A>G	-
NM_014339.7(IL17RA):c.*3093T>C	23765	IL17RA	Uncertain significance	755858124	RCV001142254;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593803	17593803	22:g.17593803T>C	-
NM_014339.7(IL17RA):c.*3127G>A	23765	IL17RA	Uncertain significance	753591654	RCV001142255;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593837	17593837	22:g.17593837G>A	-
NM_014339.7(IL17RA):c.*3175T>C	23765	IL17RA	Uncertain significance	569490500	RCV001137513;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593885	17593885	22:g.17593885T>C	-
NM_014339.7(IL17RA):c.*3187T>G	23765	IL17RA	Likely benign	536506632	RCV000376436;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17593897	17593897	NC_000022.10:g.17593897T>G	ClinGen:CA10653806	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3523C>T	23765	IL17RA	Uncertain significance	886057230	RCV000352282;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594233	17594233	NC_000022.10:g.17594233C>T	ClinGen:CA10653820	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3533C>T	23765	IL17RA	Uncertain significance	879082395	RCV001139721;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594243	17594243	22:g.17594243C>T	-
NM_014339.7(IL17RA):c.*3617T>C	23765	IL17RA	Uncertain significance	1054721085	RCV001139722;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594327	17594327	22:g.17594327T>C	-
NM_014339.7(IL17RA):c.*3624G>A	23765	IL17RA	Benign	563135481	RCV001139723;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594334	17594334	22:g.17594334G>A	-
NM_014339.7(IL17RA):c.*3667C>T	23765	IL17RA	Uncertain significance	886057231	RCV000292732;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594377	17594377	NC_000022.10:g.17594377C>T	ClinGen:CA10650819	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3708G>A	23765	IL17RA	Uncertain significance	74634517	RCV001140499;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594418	17594418	22:g.17594418G>A	-
NM_014339.7(IL17RA):c.*3708G>T	23765	IL17RA	Uncertain significance	74634517	RCV001140500;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594418	17594418	22:g.17594418G>T	-
NM_014339.7(IL17RA):c.*3734C>A	23765	IL17RA	Uncertain significance	768197387	RCV000338410;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594444	17594444	NC_000022.10:g.17594444C>A	ClinGen:CA10645020	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3734C>T	23765	IL17RA	Uncertain significance	768197387	RCV001140501;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594444	17594444	22:g.17594444C>T	-
NM_014339.7(IL17RA):c.*3823C>G	23765	IL17RA	Uncertain significance	774888622	RCV001142346;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594533	17594533	22:g.17594533C>G	-
NM_014339.7(IL17RA):c.*3837C>G	23765	IL17RA	Uncertain significance	886057232	RCV000334700;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594547	17594547	NC_000022.10:g.17594547C>G	ClinGen:CA10645021	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3865C>T	23765	IL17RA	Uncertain significance	559104346	RCV000393445;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594575	17594575	NC_000022.10:g.17594575C>T	ClinGen:CA10653823	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3869G>A	23765	IL17RA	Uncertain significance	907407230	RCV001142347;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594579	17594579	22:g.17594579G>A	-
NM_014339.7(IL17RA):c.*3913C>G	23765	IL17RA	Uncertain significance	11702918	RCV000304211;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594623	17594623	NC_000022.10:g.17594623C>G	ClinGen:CA10645022	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3943G>A	23765	IL17RA	Uncertain significance	1229647331	RCV001137602;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594653	17594653	22:g.17594653G>A	-
NM_014339.7(IL17RA):c.*3969G>T	23765	IL17RA	Uncertain significance	886057233	RCV000309913;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594679	17594679	NC_000022.10:g.17594679G>T	ClinGen:CA10653824	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*3975G>T	23765	IL17RA	Uncertain significance	184570264	RCV001137603;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594685	17594685	22:g.17594685G>T	-
NM_014339.7(IL17RA):c.*3976G>A	23765	IL17RA	Benign	576803215	RCV000364706;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594686	17594686	22:g.17594686G>A	ClinGen:CA10653177	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4002C>T	23765	IL17RA	Uncertain significance	1285572932	RCV001139827;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594712	17594712	22:g.17594712C>T	-
NM_014339.7(IL17RA):c.*4003G>T	23765	IL17RA	Likely benign	143888540	RCV001139828;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594713	17594713	22:g.17594713G>T	-
NM_014339.7(IL17RA):c.*4004C>T	23765	IL17RA	Likely benign	150231194	RCV000388847;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594714	17594714	22:g.17594714C>T	ClinGen:CA10653180	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4056A>T	23765	IL17RA	Uncertain significance	779043954	RCV000330921;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594766	17594766	22:g.17594766A>T	ClinGen:CA10653828	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4124G>T	23765	IL17RA	Likely benign	138712036	RCV001140607;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594834	17594834	22:g.17594834G>T	-
NM_014339.7(IL17RA):c.*4197A>G	23765	IL17RA	Likely benign	149359202	RCV001140608;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594907	17594907	22:g.17594907A>G	-
NM_014339.7(IL17RA):c.*4239A>G	23765	IL17RA	Uncertain significance	572377283	RCV001142470;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17594949	17594949	22:g.17594949A>G	-
NM_014339.7(IL17RA):c.*4352A>G	23765	IL17RA	Uncertain significance	1011624912	RCV001142471;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595062	17595062	22:g.17595062A>G	-
NM_014339.7(IL17RA):c.*4359T>C	23765	IL17RA	Uncertain significance	573003907	RCV000279114;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595069	17595069	22:g.17595069T>C	ClinGen:CA10645029	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4404C>T	23765	IL17RA	Uncertain significance	558883229	RCV001142472;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595114	17595114	22:g.17595114C>T	-
NM_014339.7(IL17RA):c.*4509A>G	23765	IL17RA	Uncertain significance	886057234	RCV000303871;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595219	17595219	22:g.17595219A>G	ClinGen:CA10645037	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4516C>T	23765	IL17RA	Uncertain significance	180834857	RCV000339543;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595226	17595226	22:g.17595226C>T	ClinGen:CA10645038	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4649G>T	23765	IL17RA	Uncertain significance	886057235	RCV000405039;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595359	17595359	22:g.17595359G>T	ClinGen:CA10645039	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4667A>G	23765	IL17RA	Uncertain significance	2061458764	RCV001137722;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595377	17595377	22:g.17595377A>G	-
NM_014339.7(IL17RA):c.*4791C>T	23765	IL17RA	Uncertain significance	986018820	RCV001139944;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595501	17595501	22:g.17595501C>T	-
NM_014339.7(IL17RA):c.*4798C>T	23765	IL17RA	Uncertain significance	1478354859	RCV001139945;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595508	17595508	22:g.17595508C>T	-
NM_014339.7(IL17RA):c.*4827A>G	23765	IL17RA	Uncertain significance	886057238	RCV000315418;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595537	17595537	22:g.17595537A>G	ClinGen:CA10653185	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4849C>G	23765	IL17RA	Uncertain significance	886057239	RCV000369979;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595559	17595559	22:g.17595559C>G	ClinGen:CA10645043	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*4878G>C	23765	IL17RA	Uncertain significance	1285493774	RCV001139946;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595588	17595588	22:g.17595588G>C	-
NM_014339.7(IL17RA):c.*4947G>A	23765	IL17RA	Uncertain significance	994588098	RCV001139947;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595657	17595657	22:g.17595657G>A	-
NM_014339.7(IL17RA):c.*5036C>T	23765	IL17RA	Benign	1003945	RCV000319246;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595746	17595746	NC_000022.10:g.17595746C>T	ClinGen:CA10653187	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5038A>T	23765	IL17RA	Uncertain significance	531901217	RCV001140705;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595748	17595748	22:g.17595748A>T	-
NM_014339.7(IL17RA):c.*5050G>A	23765	IL17RA	Uncertain significance	886057240	RCV000355342;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595760	17595760	NC_000022.10:g.17595760G>A	ClinGen:CA10653834	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5117G>A	23765	IL17RA	Uncertain significance	1225025974	RCV001140706;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595827	17595827	22:g.17595827G>A	-
NM_014339.7(IL17RA):c.*5156A>G	23765	IL17RA	Uncertain significance	930099196	RCV001140707;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595866	17595866	22:g.17595866A>G	-
NM_014339.7(IL17RA):c.*5164C>T	23765	IL17RA	Uncertain significance	754485568	RCV000315858;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595874	17595874	NC_000022.10:g.17595874C>T	ClinGen:CA10650840	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5256C>T	23765	IL17RA	Benign	1003944	RCV000321603;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595966	17595966	NC_000022.10:g.17595966C>T	ClinGen:CA10650841	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5270C>T	23765	IL17RA	Benign	1003943	RCV000376206;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17595980	17595980	NC_000022.10:g.17595980C>T	ClinGen:CA10653838	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5480T>A	23765	IL17RA	Uncertain significance	556640863	RCV000403044;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17596190	17596190	NC_000022.10:g.17596190T>A	ClinGen:CA10653188	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5659G>A	23765	IL17RA	Benign	7289055	RCV000406661;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17596369	17596369	NC_000022.10:g.17596369G>A	ClinGen:CA10653840	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5660G>A	23765	IL17RA	Uncertain significance	1226203860	RCV001140069;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17596370	17596370	22:g.17596370G>A	-
NM_014339.7(IL17RA):c.*5677C>A	23765	IL17RA	Likely benign	559845151	RCV000312588;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17596387	17596387	NC_000022.10:g.17596387C>A	ClinGen:CA10653189	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5778A>G	23765	IL17RA	Uncertain significance	886057242	RCV000322961;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17596488	17596488	NC_000022.10:g.17596488A>G	ClinGen:CA10653842	CN239217 Familial Candidiasis, Recessive;
NM_014339.7(IL17RA):c.*5797A>C	23765	IL17RA	Uncertain significance	1468149711	RCV001140832;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17596507	17596507	22:g.17596507A>C	-
NM_014339.7(IL17RA):c.*5855A>G	23765	IL17RA	Uncertain significance	886057243	RCV000264335;	N	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17596565	17596565	22:g.17596565A>G	ClinGen:CA10653844	CN239217 Familial Candidiasis, Recessive;
NC_000022.10:g.(?_17565982)_(20052185_?)del	-1	subset of 37 genes: TBX1	Pathogenic	-1	RCV003107327\|RCV003122555;	N	MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688, Orphanet:404553\|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953, Orphanet:1334	22	17565982	20052185		-

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