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: Candidiasis, Chronic Mucocutaneous (D002178)
..Starting node ..CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Child Nodes:
Sister Nodes:
..Candidiasis familial chronic mucocutaneous, autosomal recessive (C537979)
..Candidiasis, Familial, 1 (C567779)
..CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
..Candidiasis, Familial, 3 (C564361)
..CANDIDIASIS, FAMILIAL, 6 (OMIM:613956)
..CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
..CANDIDIASIS, FAMILIAL, 9 (OMIM:616445)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1734

Name:

CANDIDIASIS, FAMILIAL, 2

Definition:

Alternative IDs:

DO:DOID:2058

ParentIDs:

MESH:D002178

TreeNumbers:

C01.539.800.200.100/212050 |C01.703.160.165/212050 |C01.703.295.165/212050 |C17.800.838.208.165/212050

Synonyms:

CANDF2 |CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE |CARD9 IMMUNODEFICIENCY

Slim Mappings:

Bacterial infection or mycosis|Skin disease

Reference:

MedGen: 212050
MeSH: 212050
OMIM: 212050;
MSeqDR :
Genes: CARD9; TNNC1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues NAMDC: Hematopoetic
3	HP:0001597	Abnormality of the nail
4	HP:0009098	Chronic oral candidiasis
5	HP:0002721	Immunodeficiency
6	HP:0001287	Meningitis	HP:0040283
7	HP:0012203	Onychomycosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_052813.5(CARD9):c.*292T>C	64170	CARD9	Benign	rs1135314	RCV000331427;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258462	139258462	A	G	9:g.139258462A>G	ClinGen:CA5332533	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.*246C>G	64170	CARD9	Likely benign	rs570507065	RCV001168427;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258508	139258508	G	C	9:g.139258508G>C	-
NM_052813.5(CARD9):c.*244T>G	64170	CARD9	Uncertain significance	rs373574599	RCV000385916;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258510	139258510	A	C	9:g.139258510A>C	ClinGen:CA5332541	CN239217 Familial Candidiasis, Recessive;
NC_000009.12:g.(?_136364105)_(136372098_?)del	64170	CARD9	Pathogenic	-1	RCV000644018;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258557	139266550	na	na		-	C1859353 212050 Candidiasis, familial, 2;
NC_000009.11:g.(?_139258557)_(139266550_?)dup	64170	CARD9	Uncertain significance	-1	RCV001305749;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258557	139266550	na	na	-1	-
NC_000009.11:g.(?_139258557)_(140003427_?)del	64170	CARD9	Pathogenic	-1	RCV001380370;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258557	140003427	na	na	-1	-
NM_052813.5(CARD9):c.*139G>A	64170	CARD9	Uncertain significance	rs564615796	RCV000291596;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258615	139258615	C	T	9:g.139258615C>T	ClinGen:CA5332551	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.*130G>A	64170	CARD9	Uncertain significance	rs545913331	RCV000347008;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258624	139258624	C	T	9:g.139258624C>T	ClinGen:CA5332554	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.*57C>T	64170	CARD9	Uncertain significance	rs1345187433	RCV001168428;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258697	139258697	G	A	9:g.139258697G>A	-
NM_052813.5(CARD9):c.1609T>C (p.Ter537Gln)	64170	CARD9	Uncertain significance	rs1405807688	RCV000779577;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258756	139258756	A	G	NC_000009.11:g.139258756A>G	-
NM_052813.5(CARD9):c.1596C>T (p.Asp532=)	64170	CARD9	Benign	rs151057624	RCV000546086;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258769	139258769	G	A	9:g.139258769G>A	ClinGen:CA5332571	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1586ACA[1] (p.Asn530del)	64170	CARD9	Uncertain significance	rs1833060032	RCV001043259;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258774	139258776	GTGT	G	9:g.139258774_139258776del	-
NM_052813.5(CARD9):c.1578G>A (p.Thr526=)	64170	CARD9	Likely benign	rs765707859	RCV000982623\|RCV001504233;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258787	139258787	C	T	9:g.139258787C>T	-
NM_052813.5(CARD9):c.1577C>G (p.Thr526Arg)	64170	CARD9	Uncertain significance	-1	RCV001965833;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258788	139258788	G	C	139258788	-
NM_052813.5(CARD9):c.1576A>G (p.Thr526Ala)	64170	CARD9	Uncertain significance	-1	RCV002027145;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258789	139258789	T	C	139258789	-
NM_052813.5(CARD9):c.1574C>T (p.Thr525Ile)	64170	CARD9	Uncertain significance	rs1425733902	RCV001253957;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258791	139258791	G	A	9:g.139258791G>A	-
NM_052813.5(CARD9):c.1571A>C (p.Asn524Thr)	64170	CARD9	Uncertain significance	rs141310444	RCV000644003;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258794	139258794	T	G	9:g.139258794T>G	ClinGen:CA5332575	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1567G>C (p.Glu523Gln)	64170	CARD9	Uncertain significance	rs144943839	RCV000801137;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258798	139258798	C	G	9:g.139258798C>G	-
NM_052813.5(CARD9):c.1565G>A (p.Arg522Gln)	64170	CARD9	Uncertain significance	rs745730969	RCV001339894;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258800	139258800	C	T	139258800	-
NM_052813.5(CARD9):c.1563C>G (p.Asp521Glu)	64170	CARD9	Uncertain significance	-1	RCV002011427;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258802	139258802	G	C	139258802	-
NM_052813.5(CARD9):c.1562A>C (p.Asp521Ala)	64170	CARD9	Uncertain significance	-1	RCV002029778;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258803	139258803	T	G	139258803	-
NM_052813.5(CARD9):c.1554GGA[2] (p.Glu520del)	64170	CARD9	Uncertain significance	-1	RCV002014897;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258803	139258805	GTCC	G	139258802	-
NM_052813.5(CARD9):c.1552G>T (p.Gly518Trp)	64170	CARD9	Uncertain significance	rs888151831	RCV001337401;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258813	139258813	C	A	139258813	-
NM_052813.5(CARD9):c.1551G>A (p.Gln517=)	64170	CARD9	Benign	rs77469895	RCV000880963;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258814	139258814	C	T	9:g.139258814C>T	-
NM_052813.5(CARD9):c.1546C>T (p.Arg516Trp)	64170	CARD9	Uncertain significance	rs773889930	RCV001063970;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258819	139258819	G	A	9:g.139258819G>A	-
NM_052813.5(CARD9):c.1545G>A (p.Trp515Ter)	64170	CARD9	Uncertain significance	-1	RCV002049893;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258820	139258820	C	T	139258820	-
NM_052813.5(CARD9):c.1541G>C (p.Gly514Ala)	64170	CARD9	Uncertain significance	rs1036710533	RCV001313963;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258824	139258824	C	G	139258824	-
NM_052813.5(CARD9):c.1540G>A (p.Gly514Arg)	64170	CARD9	Uncertain significance	-1	RCV001940951;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258825	139258825	C	T	139258825	-
NM_052813.5(CARD9):c.1536G>A (p.Gln512=)	64170	CARD9	Likely benign	-1	RCV002190201;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258829	139258829	C	T	139258829	-
NM_052813.5(CARD9):c.1520C>T (p.Ala507Val)	64170	CARD9	Uncertain significance	-1	RCV002009771;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258845	139258845	G	A	139258845	-
NM_052813.5(CARD9):c.1517G>A (p.Arg506His)	64170	CARD9	Uncertain significance	-1	RCV001949068;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258848	139258848	C	T	139258848	-
NM_052813.5(CARD9):c.1512-18A>G	64170	CARD9	Likely benign	-1	RCV002118339;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258871	139258871	T	C	139258871	-
NM_052813.5(CARD9):c.1512-20T>C	64170	CARD9	Likely benign	-1	RCV002100205;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258873	139258873	A	G	139258873	-
NM_052813.5(CARD9):c.1511+19G>A	64170	CARD9	Likely benign	-1	RCV002157212;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258916	139258916	C	T	139258916	-
NM_052813.5(CARD9):c.1511+7G>A	64170	CARD9	Likely benign	-1	RCV001457177;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258928	139258928	C	T	139258928	-
NM_052813.5(CARD9):c.1507_1509del (p.Arg504del)	64170	CARD9	Uncertain significance	rs758002574	RCV001235490;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258937	139258939	TGCG	T	9:g.139258937_139258939del	-
NM_052813.5(CARD9):c.1500G>A (p.Glu500=)	64170	CARD9	Likely benign	-1	RCV001475338;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258946	139258946	C	T	139258946	-
NM_052813.5(CARD9):c.1492A>T (p.Ser498Cys)	64170	CARD9	Uncertain significance	rs974044165	RCV001303837;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258954	139258954	T	A	139258954	-
NM_052813.5(CARD9):c.1489G>A (p.Glu497Lys)	64170	CARD9	Uncertain significance	-1	RCV002030128;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258957	139258957	C	T	139258957	-
NM_052813.5(CARD9):c.1481G>A (p.Arg494His)	64170	CARD9	Uncertain significance	rs149308743	RCV001253958;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258965	139258965	C	T	9:g.139258965C>T	-
NM_052813.5(CARD9):c.1479G>A (p.Arg493=)	64170	CARD9	Likely benign	rs368839062	RCV000644015;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258967	139258967	C	T	9:g.139258967C>T	ClinGen:CA5332613	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1465G>A (p.Glu489Lys)	64170	CARD9	Uncertain significance	-1	RCV001971817;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258981	139258981	C	T	139258981	-
NM_052813.5(CARD9):c.1464C>A (p.Pro488=)	64170	CARD9	Likely benign	-1	RCV001938988;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258982	139258982	G	T	139258982	-
NM_052813.5(CARD9):c.1452C>T (p.Ser484=)	64170	CARD9	Likely benign	rs758540382	RCV000644009;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139258994	139258994	G	A	9:g.139258994G>A	ClinGen:CA467716728	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1446G>C (p.Leu482=)	64170	CARD9	Likely benign	-1	RCV002187838;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259000	139259000	C	G	139259000	-
NM_052813.5(CARD9):c.1437C>A (p.Asp479Glu)	64170	CARD9	Uncertain significance	rs1406534280	RCV001208585;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259009	139259009	G	T	9:g.139259009G>T	-
NM_052813.5(CARD9):c.1435G>A (p.Asp479Asn)	64170	CARD9	Uncertain significance	-1	RCV001881797;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259011	139259011	C	T	139259011	-
NM_052813.5(CARD9):c.1435-27_1435-20del	64170	CARD9	Likely benign	-1	RCV002205938;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259031	139259038	TCGGGCTCC	T	139259030	-
NM_052813.5(CARD9):c.1434+14G>A	64170	CARD9	Uncertain significance	-1	RCV002003639;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259579	139259579	C	T	139259579	-
NM_052813.5(CARD9):c.1434+13C>T	64170	CARD9	Likely benign	-1	RCV002186464;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259580	139259580	G	A	139259580	-
NM_052813.5(CARD9):c.1434+1G>C	64170	CARD9	Conflicting interpretations of pathogenicity	rs141992399	RCV001027776\|RCV001092462;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088\|MedGen:CN517202	9	139259592	139259592	C	G	9:g.139259592C>G	ClinGen:CA500026	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1434T>C (p.His478=)	64170	CARD9	Uncertain significance	-1	RCV001363256;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259593	139259593	A	G	139259593	-
NM_052813.5(CARD9):c.1433A>G (p.His478Arg)	64170	CARD9	Uncertain significance	rs1588719771	RCV000818941;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259594	139259594	T	C	9:g.139259594T>C	-
NM_052813.5(CARD9):c.1432C>G (p.His478Asp)	64170	CARD9	Uncertain significance	-1	RCV001922071;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259595	139259595	G	C	139259595	-
NM_052813.5(CARD9):c.1424G>T (p.Arg475Leu)	64170	CARD9	Uncertain significance	rs374115294	RCV001321087;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259603	139259603	C	A	139259603	-
NM_052813.5(CARD9):c.1424G>A (p.Arg475Gln)	64170	CARD9	Uncertain significance	-1	RCV001944942;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259603	139259603	C	T	139259603	-
NM_052813.5(CARD9):c.1423C>T (p.Arg475Trp)	64170	CARD9	Likely benign	-1	RCV001453055;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259604	139259604	G	A	139259604	-
NM_052813.5(CARD9):c.1421T>C (p.Leu474Ser)	64170	CARD9	Uncertain significance	rs1833090922	RCV001339316;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259606	139259606	A	G	139259606	-
NM_052813.5(CARD9):c.1407C>A (p.His469Gln)	64170	CARD9	Uncertain significance	rs1588719803	RCV001215537;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259620	139259620	G	T	9:g.139259620G>T	-
NM_052813.5(CARD9):c.1405C>T (p.His469Tyr)	64170	CARD9	Uncertain significance	rs770567400	RCV001064933;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259622	139259622	G	A	9:g.139259622G>A	-
NM_052813.5(CARD9):c.1395T>C (p.Phe465=)	64170	CARD9	Likely benign	-1	RCV002144960;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259632	139259632	A	G	139259632	-
NM_052813.5(CARD9):c.1393T>C (p.Phe465Leu)	64170	CARD9	Uncertain significance	rs373635926	RCV000644002;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259634	139259634	A	G	NC_000009.11:g.139259634A>G	ClinGen:CA5332649	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1391C>T (p.Pro464Leu)	64170	CARD9	Uncertain significance	-1	RCV001372907;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259636	139259636	G	A	139259636	-
NM_052813.5(CARD9):c.1389G>A (p.Gln463=)	64170	CARD9	Likely benign	-1	RCV001476112;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259638	139259638	C	T	139259638	-
NM_052813.5(CARD9):c.1383G>A (p.Pro461=)	64170	CARD9	Benign/Likely benign	rs138344913	RCV000644004;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259644	139259644	C	T	NC_000009.11:g.139259644C>T	ClinGen:CA5332652	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1382C>T (p.Pro461Leu)	64170	CARD9	Uncertain significance	rs774571551	RCV000643999;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259645	139259645	G	A	NC_000009.11:g.139259645G>A	ClinGen:CA5332654	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1377G>A (p.Gly459=)	64170	CARD9	Likely benign	-1	RCV001503453;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259650	139259650	C	T	139259650	-
NM_052813.5(CARD9):c.1374G>C (p.Gly458=)	64170	CARD9	Likely benign	-1	RCV001488600;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259653	139259653	C	G	139259653	-
NM_052813.5(CARD9):c.1373G>C (p.Gly458Ala)	64170	CARD9	Likely benign	rs144348041	RCV000910713;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259654	139259654	C	G	9:g.139259654C>G	-
NM_052813.5(CARD9):c.1369G>A (p.Gly457Ser)	64170	CARD9	Uncertain significance	rs756953515	RCV001053265;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259658	139259658	C	T	9:g.139259658C>T	-
NM_052813.5(CARD9):c.1361G>A (p.Cys454Tyr)	64170	CARD9	Uncertain significance	rs200189320	RCV001321333;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259666	139259666	C	T	139259666	-
NM_052813.5(CARD9):c.1359C>A (p.Gly453=)	64170	CARD9	Likely benign	rs1489024588	RCV000644016;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259668	139259668	G	T	9:g.139259668G>T	ClinGen:CA467716917	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1358G>A (p.Gly453Asp)	64170	CARD9	Uncertain significance	rs745340091	RCV001295782;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259669	139259669	C	T	139259669	-
NM_052813.5(CARD9):c.1358-5dup	64170	CARD9	Likely benign	-1	RCV002079094;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259673	139259674	G	GA	139259673	-
NM_052813.5(CARD9):c.1358-19G>A	64170	CARD9	Likely benign	-1	RCV001436408;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139259688	139259688	C	T	139259688	-
NM_052813.5(CARD9):c.1357+16C>T	64170	CARD9	Benign	-1	RCV001510165;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261236	139261236	G	A	139261236	-
NM_052813.5(CARD9):c.1355A>T (p.Lys452Ile)	64170	CARD9	Uncertain significance	-1	RCV001870158;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261254	139261254	T	A	139261254	-
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs)	64170	CARD9	Pathogenic	rs746470735	RCV000697296;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261255	139261258	TTGTC	T	NC_000009.11:g.139261257_139261260del	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1351G>A (p.Asp451Asn)	64170	CARD9	Uncertain significance	rs1411071075	RCV001238490;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261258	139261258	C	T	9:g.139261258C>T	-
NM_052813.5(CARD9):c.1341C>T (p.Thr447=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs774391206	RCV000788932\|RCV001078650;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261268	139261268	G	A	9:g.139261268G>A	-
NM_052813.5(CARD9):c.1335G>A (p.Glu445=)	64170	CARD9	Likely benign	-1	RCV001420096;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261274	139261274	C	T	139261274	-
NM_052813.5(CARD9):c.1333G>A (p.Glu445Lys)	64170	CARD9	Uncertain significance	rs767361965	RCV001326569;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261276	139261276	C	T	139261276	-
NM_052813.5(CARD9):c.1330C>G (p.Leu444Val)	64170	CARD9	Uncertain significance	rs750049509	RCV000398422;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261279	139261279	G	C	NC_000009.11:g.139261279G>C	ClinGen:CA5332701	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1312-13CT[2]	64170	CARD9	Conflicting interpretations of pathogenicity	rs770532797	RCV000644013;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261305	139261306	AAG	A	NC_000009.11:g.139261305AG[2]	ClinGen:CA5332705	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1311+18C>T	64170	CARD9	Benign	-1	RCV002120713;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261650	139261650	G	A	139261650	-
NM_052813.5(CARD9):c.1294C>T (p.Pro432Ser)	64170	CARD9	Uncertain significance	-1	RCV001950583;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261685	139261685	G	A	139261685	-
NM_052813.5(CARD9):c.1289dup (p.Ser431fs)	64170	CARD9	Pathogenic	rs1564367364	RCV000687133;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261689	139261690	G	GC	9:g.139261689_139261690insC	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1278C>T (p.Asp426=)	64170	CARD9	Likely benign	-1	RCV002183401;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261701	139261701	G	A	139261701	-
NM_052813.5(CARD9):c.1277A>G (p.Asp426Gly)	64170	CARD9	Uncertain significance	rs760553828	RCV000810181;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261702	139261702	T	C	9:g.139261702T>C	-
NM_052813.5(CARD9):c.1276G>A (p.Asp426Asn)	64170	CARD9	Uncertain significance	rs770587024	RCV001216375;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261703	139261703	C	T	9:g.139261703C>T	-
NM_052813.5(CARD9):c.1275C>T (p.Ser425=)	64170	CARD9	Likely benign	-1	RCV001477759;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261704	139261704	G	A	139261704	-
NM_052813.5(CARD9):c.1270-35_1270-5dup	64170	CARD9	Uncertain significance	rs1833145908	RCV001295819;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139261713	139261714	T	TGGTCATAGAAAATGGGGTGGGTGGGCTGTGA	139261713	-
NM_052813.5(CARD9):c.1264G>A (p.Val422Ile)	64170	CARD9	Uncertain significance	rs374295826	RCV001303338;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262094	139262094	C	T	139262094	-
NM_052813.5(CARD9):c.1263C>T (p.Leu421=)	64170	CARD9	Likely benign	-1	RCV001476848;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262095	139262095	G	A	139262095	-
NM_052813.5(CARD9):c.1260G>A (p.Thr420=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs142757984	RCV000303645\|RCV000644007;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088\|MedGen:CN517202	9	139262098	139262098	C	T	NC_000009.11:g.139262098C>T	ClinGen:CA5332782	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1259C>T (p.Thr420Met)	64170	CARD9	Uncertain significance	-1	RCV001919834;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262099	139262099	G	A	139262099	-
NM_052813.5(CARD9):c.1257G>A (p.Glu419=)	64170	CARD9	Likely benign	rs1291912498	RCV000941521\|RCV001454272;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262101	139262101	C	T	9:g.139262101C>T	-
NM_052813.5(CARD9):c.1244G>A (p.Arg415Gln)	64170	CARD9	Uncertain significance	rs147340708	RCV001038901;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262114	139262114	C	T	9:g.139262114C>T	-
NM_052813.5(CARD9):c.1243C>T (p.Arg415Trp)	64170	CARD9	Uncertain significance	rs754119986	RCV001204001;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262115	139262115	G	A	9:g.139262115G>A	-
NM_052813.5(CARD9):c.1237C>T (p.Leu413Phe)	64170	CARD9	Uncertain significance	rs752685448	RCV001301601;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262121	139262121	G	A	139262121	-
NM_052813.5(CARD9):c.1225G>A (p.Val409Met)	64170	CARD9	Uncertain significance	rs368200571	RCV001047731;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262133	139262133	C	T	9:g.139262133C>T	-
NM_052813.5(CARD9):c.1215G>A (p.Gln405=)	64170	CARD9	Likely benign	rs139454076	RCV000956762;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262143	139262143	C	T	9:g.139262143C>T	-
NM_052813.5(CARD9):c.1212G>A (p.Ala404=)	64170	CARD9	Likely benign	-1	RCV001465350;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262146	139262146	C	T	139262146	-
NM_052813.5(CARD9):c.1183C>G (p.Leu395Val)	64170	CARD9	Uncertain significance	rs747645575	RCV001309118;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262175	139262175	G	C	139262175	-
NM_052813.5(CARD9):c.1176G>A (p.Ala392=)	64170	CARD9	Likely benign	-1	RCV002079065;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262182	139262182	C	T	139262182	-
NM_052813.5(CARD9):c.1175C>T (p.Ala392Val)	64170	CARD9	Uncertain significance	rs567395579	RCV000339870;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262183	139262183	G	A	NC_000009.11:g.139262183G>A	ClinGen:CA5332802	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1167C>T (p.Gly389=)	64170	CARD9	Uncertain significance	rs759838683	RCV001233799;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262191	139262191	G	A	9:g.139262191G>A	-
NM_052813.5(CARD9):c.1157G>A (p.Arg386Gln)	64170	CARD9	Uncertain significance	-1	RCV001941008;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262201	139262201	C	T	139262201	-
NM_052813.5(CARD9):c.1153G>C (p.Val385Leu)	64170	CARD9	Benign/Likely benign	rs3124993	RCV000531324;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262205	139262205	C	G	NC_000009.11:g.139262205C>G	ClinGen:CA5332808	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1153G>T (p.Val385Leu)	64170	CARD9	Likely benign	-1	RCV002092661;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262205	139262205	C	A	139262205	-
NM_052813.5(CARD9):c.1138G>A (p.Ala380Thr)	64170	CARD9	Uncertain significance	-1	RCV001933559;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262220	139262220	C	T	139262220	-
NM_052813.5(CARD9):c.1137C>T (p.Asp379=)	64170	CARD9	Likely benign	-1	RCV002205051;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262221	139262221	G	A	139262221	-
NM_052813.5(CARD9):c.1121G>A (p.Gly374Asp)	64170	CARD9	Uncertain significance	rs777420944	RCV000703613;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262237	139262237	C	T	NC_000009.11:g.139262237C>T	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro)	64170	CARD9	Pathogenic	rs149712114	RCV000074439;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262240	139262240	C	G	9:g.139262240C>G	ClinGen:CA145370,UniProtKB:Q9H257#VAR_070830,OMIM:607212.0003	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1118G>A (p.Arg373Gln)	64170	CARD9	Uncertain significance	rs149712114	RCV001061631;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262240	139262240	C	T	9:g.139262240C>T	-
NM_052813.5(CARD9):c.1117C>T (p.Arg373Trp)	64170	CARD9	Uncertain significance	-1	RCV001950509;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262241	139262241	G	A	139262241	-
NM_052813.5(CARD9):c.1114G>A (p.Ala372Thr)	64170	CARD9	Uncertain significance	rs145574224	RCV000693975;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262244	139262244	C	T	NC_000009.11:g.139262244C>T	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1105G>A (p.Ala369Thr)	64170	CARD9	Uncertain significance	rs141270365	RCV000824420;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262253	139262253	C	T	9:g.139262253C>T	-
NM_052813.5(CARD9):c.1104C>T (p.His368=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs145052557	RCV000298142;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262254	139262254	G	A	NC_000009.11:g.139262254G>A	ClinGen:CA5332829	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1104C>A (p.His368Gln)	64170	CARD9	Uncertain significance	rs145052557	RCV001233024;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262254	139262254	G	T	9:g.139262254G>T	-
NM_052813.5(CARD9):c.1096G>A (p.Glu366Lys)	64170	CARD9	Uncertain significance	rs146829177	RCV000552494;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262262	139262262	C	T	9:g.139262262C>T	ClinGen:CA201611565	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.1094A>G (p.Glu365Gly)	64170	CARD9	Uncertain significance	rs533844645	RCV001233808;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262264	139262264	T	C	9:g.139262264T>C	-
NM_052813.5(CARD9):c.1091G>A (p.Arg364Gln)	64170	CARD9	Uncertain significance	rs778706578	RCV001166246;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262267	139262267	C	T	9:g.139262267C>T	-
NM_052813.5(CARD9):c.1090C>A (p.Arg364=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs151211588	RCV000352984\|RCV000977089;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088\|MedGen:CN517202	9	139262268	139262268	G	T	NC_000009.11:g.139262268G>T	ClinGen:CA5332833	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.1090C>T (p.Arg364Trp)	64170	CARD9	Uncertain significance	rs151211588	RCV000818698;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262268	139262268	G	A	9:g.139262268G>A	-
NM_052813.5(CARD9):c.1089G>A (p.Thr363=)	64170	CARD9	Likely benign	-1	RCV001463069;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262269	139262269	C	T	139262269	-
NM_052813.5(CARD9):c.1081A>G (p.Ile361Val)	64170	CARD9	Uncertain significance	rs1338999078	RCV001212993;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262277	139262277	T	C	9:g.139262277T>C	-
NM_052813.5(CARD9):c.1078-1G>A	64170	CARD9	Likely pathogenic	-1	RCV002015707;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262281	139262281	C	T	139262281	-
NM_052813.5(CARD9):c.1078-6C>T	64170	CARD9	Likely benign	-1	RCV001417482;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139262286	139262286	G	A	139262286	-
NM_052813.5(CARD9):c.1077+6C>T	64170	CARD9	Uncertain significance	-1	RCV002047918;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264196	139264196	G	A	139264196	-
NM_052813.5(CARD9):c.1060G>A (p.Ala354Thr)	64170	CARD9	Uncertain significance	rs766983144	RCV001058380;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264219	139264219	C	T	9:g.139264219C>T	-
NM_052813.5(CARD9):c.1059C>T (p.Val353=)	64170	CARD9	Likely benign	-1	RCV002130186;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264220	139264220	G	A	139264220	-
NM_052813.5(CARD9):c.1052AGG[1] (p.Glu352del)	64170	CARD9	Uncertain significance	-1	RCV002013188;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264222	139264224	ACCT	A	139264221	-
NM_052813.5(CARD9):c.1045C>T (p.Gln349Ter)	64170	CARD9	Pathogenic	-1	RCV002037820;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264234	139264234	G	A	139264234	-
NM_052813.5(CARD9):c.1031A>G (p.Glu344Gly)	64170	CARD9	Uncertain significance	rs748158820	RCV001209386;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264248	139264248	T	C	9:g.139264248T>C	-
NM_052813.5(CARD9):c.1029C>T (p.Ile343=)	64170	CARD9	Likely benign	rs966910034	RCV000944158\|RCV001481005;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264250	139264250	G	A	9:g.139264250G>A	-
NM_052813.5(CARD9):c.1027A>G (p.Ile343Val)	64170	CARD9	Uncertain significance	-1	RCV001920391;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264252	139264252	T	C	139264252	-
NM_052813.5(CARD9):c.1024C>T (p.Arg342Cys)	64170	CARD9	Uncertain significance	-1	RCV002012953;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264255	139264255	G	A	139264255	-
NM_052813.5(CARD9):c.1007C>T (p.Ser336Phe)	64170	CARD9	Uncertain significance	rs189645633	RCV000702567;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264272	139264272	G	A	NC_000009.11:g.139264272G>A	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.998G>A (p.Arg333His)	64170	CARD9	Uncertain significance	rs200783121	RCV001059496;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264281	139264281	C	T	9:g.139264281C>T	-
NM_052813.5(CARD9):c.979C>T (p.Leu327=)	64170	CARD9	Likely benign	-1	RCV002102587;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264300	139264300	G	A	139264300	-
NM_052813.5(CARD9):c.976G>A (p.Glu326Lys)	64170	CARD9	Uncertain significance	rs143669690	RCV000276851;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264303	139264303	C	T	NC_000009.11:g.139264303C>T	ClinGen:CA5332885	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.976G>C (p.Glu326Gln)	64170	CARD9	Uncertain significance	rs143669690	RCV000643998;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264303	139264303	C	G	NC_000009.11:g.139264303C>G	ClinGen:CA5332884	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.975C>T (p.Phe325=)	64170	CARD9	Likely benign	-1	RCV001453820;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264304	139264304	G	A	139264304	-
NM_052813.5(CARD9):c.960G>A (p.Glu320=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs148158774	RCV000644005;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264319	139264319	C	T	9:g.139264319C>T	ClinGen:CA5332896	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.952-11G>A	64170	CARD9	Likely benign	-1	RCV002183920;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264338	139264338	C	T	139264338	-
NM_052813.5(CARD9):c.952-12C>T	64170	CARD9	Likely benign	-1	RCV002155035;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264339	139264339	G	A	139264339	-
NM_052813.5(CARD9):c.951+10_951+17del	64170	CARD9	Likely benign	rs147386417	RCV000537540;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264729	139264736	CCCCGCCTG	C	9:g.139264729_139264736del	ClinGen:CA201613730	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.951+14C>T	64170	CARD9	Benign/Likely benign	rs574158361	RCV001166766;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264732	139264732	G	A	9:g.139264732G>A	-
NM_052813.5(CARD9):c.951+9_951+10del	64170	CARD9	Benign	rs754404646	RCV000644010;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264736	139264737	TGC	T	9:g.139264736_139264737del	ClinGen:CA5332922	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.951+9G>A	64170	CARD9	Likely benign	rs924360777	RCV000974757;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264737	139264737	C	T	9:g.139264737C>T	-
NM_052813.5(CARD9):c.951+4G>A	64170	CARD9	Likely benign	rs757527643	RCV000547730;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264742	139264742	C	T	9:g.139264742C>T	ClinGen:CA5332925	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.944G>T (p.Arg315Leu)	64170	CARD9	Uncertain significance	-1	RCV001360106;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264753	139264753	C	A	139264753	-
NM_052813.5(CARD9):c.944G>A (p.Arg315His)	64170	CARD9	Uncertain significance	-1	RCV001918043;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264753	139264753	C	T	139264753	-
NM_052813.5(CARD9):c.943C>T (p.Arg315Cys)	64170	CARD9	Uncertain significance	-1	RCV001965302;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264754	139264754	G	A	139264754	-
NM_052813.5(CARD9):c.941G>A (p.Arg314Gln)	64170	CARD9	Uncertain significance	rs747970437	RCV001351951;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264756	139264756	C	T	139264756	-
NM_052813.5(CARD9):c.925C>T (p.Arg309Cys)	64170	CARD9	Likely benign	rs535051926	RCV000920084\|RCV001166767;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264772	139264772	G	A	9:g.139264772G>A	-
NM_052813.5(CARD9):c.923_925del (p.Leu308del)	64170	CARD9	Uncertain significance	rs1833230862	RCV001057073;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264772	139264774	CGGA	C	9:g.139264772_139264774del	-
NM_052813.5(CARD9):c.918G>A (p.Lys306=)	64170	CARD9	Uncertain significance	rs1158158279	RCV001227013;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264779	139264779	C	T	9:g.139264779C>T	-
NM_052813.5(CARD9):c.914G>A (p.Arg305His)	64170	CARD9	Uncertain significance	rs150234370	RCV001064665;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264783	139264783	C	T	NC_000009.11:g.139264783C>T	ClinGen:CA5332936	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.897C>T (p.Asn299=)	64170	CARD9	Likely benign	-1	RCV001485781;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264800	139264800	G	A	139264800	-
NM_052813.5(CARD9):c.896A>G (p.Asn299Ser)	64170	CARD9	Uncertain significance	-1	RCV001996826;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264801	139264801	T	C	139264801	-
NM_052813.5(CARD9):c.894C>G (p.Ala298=)	64170	CARD9	Likely benign	-1	RCV002117259;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264803	139264803	G	C	139264803	-
NM_052813.5(CARD9):c.883C>T (p.Gln295Ter)	64170	CARD9	Pathogenic	rs121918338	RCV000003575;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264814	139264814	G	A	9:g.139264814G>A	ClinGen:CA116192,OMIM:607212.0001	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.882C>G (p.His294Gln)	64170	CARD9	Uncertain significance	rs756275149	RCV001308123;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264815	139264815	G	C	139264815	-
NM_052813.5(CARD9):c.875G>T (p.Arg292Leu)	64170	CARD9	Uncertain significance	rs143263677	RCV001304528;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264822	139264822	C	A	139264822	-
NM_052813.5(CARD9):c.870G>A (p.Ala290=)	64170	CARD9	Benign	rs115057256	RCV000527218;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264827	139264827	C	T	NC_000009.11:g.139264827C>T	ClinGen:CA5332948	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.869C>T (p.Ala290Val)	64170	CARD9	Uncertain significance	rs1442047796	RCV001166768;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264828	139264828	G	A	9:g.139264828G>A	-
NM_052813.5(CARD9):c.868G>T (p.Ala290Ser)	64170	CARD9	Uncertain significance	rs964199466	RCV000817741;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264829	139264829	C	A	9:g.139264829C>A	-
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter)	64170	CARD9	Pathogenic	rs398122363	RCV000074440;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264832	139264832	G	A	9:g.139264832G>A	ClinGen:CA145372,OMIM:607212.0004	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.862C>T (p.Arg288Trp)	64170	CARD9	Uncertain significance	rs770668488	RCV001242861;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264835	139264835	G	A	9:g.139264835G>A	-
NM_052813.5(CARD9):c.861G>T (p.Trp287Cys)	64170	CARD9	Uncertain significance	rs776265820	RCV000799975;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264836	139264836	C	A	9:g.139264836C>A	-
NM_052813.5(CARD9):c.855G>A (p.Glu285=)	64170	CARD9	Likely benign	-1	RCV002192319;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264842	139264842	C	T	139264842	-
NM_052813.5(CARD9):c.851A>C (p.Glu284Ala)	64170	CARD9	Uncertain significance	rs138048592	RCV000644000;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264846	139264846	T	G	NC_000009.11:g.139264846T>G	ClinGen:CA5332955	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.847C>G (p.Leu283Val)	64170	CARD9	Uncertain significance	rs1833234296	RCV001207295;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264850	139264850	G	C	9:g.139264850G>C	-
NM_052813.5(CARD9):c.837C>T (p.Tyr279=)	64170	CARD9	Likely benign	-1	RCV002082702;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264860	139264860	G	A	139264860	-
NM_052813.5(CARD9):c.822C>G (p.Asp274Glu)	64170	CARD9	Uncertain significance	-1	RCV002036131;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264875	139264875	G	C	139264875	-
NM_052813.5(CARD9):c.816G>A (p.Lys272=)	64170	CARD9	Likely benign	-1	RCV002104176;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264881	139264881	C	T	139264881	-
NM_052813.5(CARD9):c.809A>T (p.Glu270Val)	64170	CARD9	Conflicting interpretations of pathogenicity	rs114895119	RCV000548526;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264888	139264888	T	A	NC_000009.11:g.139264888T>A	ClinGen:CA5332961	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.808-8C>T	64170	CARD9	Conflicting interpretations of pathogenicity	rs542391727	RCV001168482;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264897	139264897	G	A	9:g.139264897G>A	-
NM_052813.5(CARD9):c.808-9C>A	64170	CARD9	Conflicting interpretations of pathogenicity	rs200458322	RCV000533763;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264898	139264898	G	T	NC_000009.11:g.139264898G>T	ClinGen:CA5332964	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.808-11G>T	64170	CARD9	Benign	rs528166226	RCV000383225;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264900	139264900	C	A	NC_000009.11:g.139264900C>A	ClinGen:CA5332966	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.807+10T>G	64170	CARD9	Likely benign	-1	RCV002084679;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264964	139264964	A	C	139264964	-
NM_052813.5(CARD9):c.807+8C>T	64170	CARD9	Likely benign	rs372934669	RCV000979421;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264966	139264966	G	A	9:g.139264966G>A	-
NM_052813.5(CARD9):c.807+7C>T	64170	CARD9	Likely benign	-1	RCV001482368;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264967	139264967	G	A	139264967	-
NM_052813.5(CARD9):c.801C>T (p.Ser267=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs143884319	RCV000905906;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264980	139264980	G	A	NC_000009.11:g.139264980G>A	ClinGen:CA5332984	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.786G>A (p.Gln262=)	64170	CARD9	Likely benign	-1	RCV002084513;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139264995	139264995	C	T	139264995	-
NM_052813.5(CARD9):c.781G>A (p.Val261Met)	64170	CARD9	Uncertain significance	-1	RCV002047495;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265000	139265000	C	T	139265000	-
NM_052813.5(CARD9):c.779G>A (p.Arg260Gln)	64170	CARD9	Uncertain significance	rs781016718	RCV000796096;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265002	139265002	C	T	9:g.139265002C>T	-
NM_052813.5(CARD9):c.778C>T (p.Arg260Trp)	64170	CARD9	Uncertain significance	rs148681933	RCV001071694;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265003	139265003	G	A	9:g.139265003G>A	-
NM_052813.5(CARD9):c.766del (p.Leu256fs)	64170	CARD9	Pathogenic	rs1833240016	RCV001037926;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265015	139265015	AG	A	9:g.139265015_139265015del	-
NM_052813.5(CARD9):c.760_761delinsGC (p.Lys254Ala)	64170	CARD9	Uncertain significance	rs1833240171	RCV001068429;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265020	139265021	TT	GC	NC_000009.11:g.139265020_139265021delinsGC	-
NM_052813.5(CARD9):c.757G>C (p.Glu253Gln)	64170	CARD9	Uncertain significance	rs748703154	RCV000703638;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265024	139265024	C	G	NC_000009.11:g.139265024C>G	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.748C>T (p.Leu250=)	64170	CARD9	Likely benign	rs1484042011	RCV000943040;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265033	139265033	G	A	9:g.139265033G>A	-
NM_052813.5(CARD9):c.745G>A (p.Glu249Lys)	64170	CARD9	Uncertain significance	-1	RCV001966274;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265036	139265036	C	T	139265036	-
NM_052813.5(CARD9):c.736C>G (p.Leu246Val)	64170	CARD9	Uncertain significance	-1	RCV002049226;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265045	139265045	G	C	139265045	-
NM_052813.5(CARD9):c.722G>A (p.Arg241Gln)	64170	CARD9	Uncertain significance	rs369657798	RCV001347946;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265059	139265059	C	T	139265059	-
NM_052813.5(CARD9):c.721C>T (p.Arg241Trp)	64170	CARD9	Uncertain significance	rs142221470	RCV001058174;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265060	139265060	G	A	9:g.139265060G>A	-
NM_052813.5(CARD9):c.715G>A (p.Glu239Lys)	64170	CARD9	Uncertain significance	-1	RCV001909343;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265066	139265066	C	T	139265066	-
NM_052813.5(CARD9):c.708C>T (p.His236=)	64170	CARD9	Likely benign	-1	RCV002193033;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265073	139265073	G	A	139265073	-
NM_052813.5(CARD9):c.694C>T (p.Leu232=)	64170	CARD9	Likely benign	rs373198723	RCV000917083\|RCV001504563;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265087	139265087	G	A	9:g.139265087G>A	-
NM_052813.5(CARD9):c.693G>A (p.Thr231=)	64170	CARD9	Benign/Likely benign	rs59902911	RCV000559992;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265088	139265088	C	T	NC_000009.11:g.139265088C>T	ClinGen:CA5333006	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.687G>T (p.Lys229Asn)	64170	CARD9	Uncertain significance	-1	RCV001870193;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265094	139265094	C	A	139265094	-
NM_052813.5(CARD9):c.683G>A (p.Arg228His)	64170	CARD9	Uncertain significance	rs551482416	RCV000688329;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265098	139265098	C	T	NC_000009.11:g.139265098C>T	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.667G>A (p.Asp223Asn)	64170	CARD9	Uncertain significance	rs745942827	RCV001234255;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265114	139265114	C	T	9:g.139265114C>T	-
NM_052813.5(CARD9):c.666C>T (p.Asp222=)	64170	CARD9	Likely benign	-1	RCV002206041;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265115	139265115	G	A	139265115	-
NM_052813.5(CARD9):c.661G>A (p.Glu221Lys)	64170	CARD9	Benign/Likely benign	rs200735402	RCV001168483;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265120	139265120	C	T	9:g.139265120C>T	-
NM_052813.5(CARD9):c.660C>T (p.Ala220=)	64170	CARD9	Likely benign	-1	RCV002097115;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265121	139265121	G	A	139265121	-
NM_052813.5(CARD9):c.636G>A (p.Gln212=)	64170	CARD9	Likely benign	-1	RCV001482373;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265145	139265145	C	T	139265145	-
NM_052813.5(CARD9):c.628-4G>A	64170	CARD9	Likely benign	-1	RCV002159727;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265157	139265157	C	T	139265157	-
NM_052813.5(CARD9):c.628-5T>A	64170	CARD9	Uncertain significance	rs1833244370	RCV001168484;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265158	139265158	A	T	9:g.139265158A>T	-
NM_052813.5(CARD9):c.628-10C>G	64170	CARD9	Uncertain significance	rs770028236	RCV001307980;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265163	139265163	G	C	139265163	-
NM_052813.5(CARD9):c.628-15C>A	64170	CARD9	Likely benign	-1	RCV002155683;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265168	139265168	G	T	139265168	-
NM_052813.5(CARD9):c.627+17C>T	64170	CARD9	Likely benign	-1	RCV002088796;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265276	139265276	G	A	139265276	-
NM_052813.5(CARD9):c.627+9G>A	64170	CARD9	Likely benign	-1	RCV001415459;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265284	139265284	C	T	139265284	-
NM_052813.5(CARD9):c.627+8C>T	64170	CARD9	Likely benign	-1	RCV002109805;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265285	139265285	G	A	139265285	-
NM_052813.5(CARD9):c.627+5G>A	64170	CARD9	Uncertain significance	-1	RCV001911350;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265288	139265288	C	T	139265288	-
NM_052813.5(CARD9):c.627+4C>T	64170	CARD9	Benign	rs181987989	RCV000967653;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265289	139265289	G	A	NC_000009.11:g.139265289G>A	ClinGen:CA5333070	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.610C>T (p.Arg204Cys)	64170	CARD9	Uncertain significance	-1	RCV001923339;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265310	139265310	G	A	139265310	-
NM_052813.5(CARD9):c.602T>C (p.Met201Thr)	64170	CARD9	Uncertain significance	rs1833249736	RCV001215538;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265318	139265318	A	G	9:g.139265318A>G	-
NM_052813.5(CARD9):c.594C>T (p.Ala198=)	64170	CARD9	Likely benign	-1	RCV001506654;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265326	139265326	G	A	139265326	-
NM_052813.5(CARD9):c.592G>A (p.Ala198Thr)	64170	CARD9	Uncertain significance	rs139295959	RCV001232252;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265328	139265328	C	T	9:g.139265328C>T	-
NM_052813.5(CARD9):c.591C>G (p.Gly197=)	64170	CARD9	Likely benign	-1	RCV002109888;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265329	139265329	G	C	139265329	-
NM_052813.5(CARD9):c.586A>G (p.Lys196Glu)	64170	CARD9	Uncertain significance	rs768281299	RCV001344243;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265334	139265334	T	C	139265334	-
NM_052813.5(CARD9):c.583G>C (p.Glu195Gln)	64170	CARD9	Uncertain significance	rs774113192	RCV001306554;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265337	139265337	C	G	139265337	-
NM_052813.5(CARD9):c.582G>C (p.Glu194Asp)	64170	CARD9	Uncertain significance	rs761369989	RCV000823522;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265338	139265338	C	G	9:g.139265338C>G	-
NM_052813.5(CARD9):c.579dup (p.Glu194Ter)	64170	CARD9	Pathogenic	-1	RCV001962015;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265340	139265341	C	CA	139265340	-
NM_052813.5(CARD9):c.578G>A (p.Ser193Asn)	64170	CARD9	Uncertain significance	rs144115318	RCV001231536;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265342	139265342	C	T	9:g.139265342C>T	-
NM_052813.5(CARD9):c.575A>G (p.Gln192Arg)	64170	CARD9	Uncertain significance	rs749914021	RCV001064230;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265345	139265345	T	C	9:g.139265345T>C	-
NM_052813.5(CARD9):c.561G>A (p.Met187Ile)	64170	CARD9	Uncertain significance	-1	RCV001896342;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265359	139265359	C	T	139265359	-
NM_052813.5(CARD9):c.560T>C (p.Met187Thr)	64170	CARD9	Uncertain significance	rs1302956100	RCV000818624;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265360	139265360	A	G	9:g.139265360A>G	-
NM_052813.5(CARD9):c.550G>A (p.Asp184Asn)	64170	CARD9	Uncertain significance	rs374298700	RCV000701826;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265370	139265370	C	T	NC_000009.11:g.139265370C>T	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.549C>T (p.Tyr183=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs528585158	RCV000942475\|RCV001169216;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265371	139265371	G	A	9:g.139265371G>A	-
NM_052813.5(CARD9):c.548A>G (p.Tyr183Cys)	64170	CARD9	Uncertain significance	rs747120908	RCV001169217;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265372	139265372	T	C	9:g.139265372T>C	-
NM_052813.5(CARD9):c.539A>G (p.Glu180Gly)	64170	CARD9	Uncertain significance	rs1252059533	RCV001324374;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265381	139265381	T	C	139265381	-
NM_052813.5(CARD9):c.532T>C (p.Cys178Arg)	64170	CARD9	Uncertain significance	-1	RCV001366654;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265388	139265388	A	G	139265388	-
NM_052813.5(CARD9):c.525C>T (p.Leu175=)	64170	CARD9	Likely benign	-1	RCV001400775;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265395	139265395	G	A	139265395	-
NM_052813.5(CARD9):c.519C>T (p.Arg173=)	64170	CARD9	Uncertain significance	-1	RCV002045317;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265401	139265401	G	A	139265401	-
NM_052813.5(CARD9):c.517C>T (p.Arg173Cys)	64170	CARD9	Uncertain significance	rs759264924	RCV001210897;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265403	139265403	G	A	9:g.139265403G>A	-
NM_052813.5(CARD9):c.515G>A (p.Ser172Asn)	64170	CARD9	Uncertain significance	rs201802044	RCV001169218;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265405	139265405	C	T	9:g.139265405C>T	-
NM_052813.5(CARD9):c.513C>T (p.Gly171=)	64170	CARD9	Benign/Likely benign	rs78538457	RCV001169219;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265407	139265407	G	A	9:g.139265407G>A	-
NM_052813.5(CARD9):c.511G>A (p.Gly171Ser)	64170	CARD9	Uncertain significance	rs140508365	RCV000820949;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265409	139265409	C	T	NC_000009.11:g.139265409C>T	ClinGen:CA5333114	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.510C>T (p.Ala170=)	64170	CARD9	Likely benign	-1	RCV001961154;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265410	139265410	G	A	139265410	-
NM_052813.5(CARD9):c.508G>A (p.Ala170Thr)	64170	CARD9	Likely benign	rs112244317	RCV000644011;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265412	139265412	C	T	NC_000009.11:g.139265412C>T	ClinGen:CA5333117	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.495G>A (p.Lys165=)	64170	CARD9	Likely benign	-1	RCV001434750;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265425	139265425	C	T	139265425	-
NM_052813.5(CARD9):c.489G>A (p.Arg163=)	64170	CARD9	Likely benign	-1	RCV002094136;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265431	139265431	C	T	139265431	-
NM_052813.5(CARD9):c.479G>A (p.Arg160His)	64170	CARD9	Uncertain significance	rs747925378	RCV000800304;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265441	139265441	C	T	9:g.139265441C>T	-
NM_052813.5(CARD9):c.478C>T (p.Arg160Cys)	64170	CARD9	Uncertain significance	rs1400756254	RCV001229377;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265442	139265442	G	A	9:g.139265442G>A	-
NM_052813.5(CARD9):c.464G>A (p.Arg155His)	64170	CARD9	Uncertain significance	-1	RCV001952047;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265456	139265456	C	T	139265456	-
NM_052813.5(CARD9):c.463C>T (p.Arg155Cys)	64170	CARD9	Uncertain significance	rs199947855	RCV000545325;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265457	139265457	G	A	NC_000009.11:g.139265457G>A	ClinGen:CA5333129	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.455G>A (p.Ser152Asn)	64170	CARD9	Uncertain significance	rs539919395	RCV000809823;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265465	139265465	C	T	9:g.139265465C>T	-
NM_052813.5(CARD9):c.443G>A (p.Arg148Gln)	64170	CARD9	Uncertain significance	rs757627986	RCV000823901;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265477	139265477	C	T	9:g.139265477C>T	-
NM_052813.5(CARD9):c.442C>T (p.Arg148Trp)	64170	CARD9	Uncertain significance	-1	RCV001910889;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265478	139265478	G	A	139265478	-
NM_052813.5(CARD9):c.438G>A (p.Glu146=)	64170	CARD9	Likely benign	-1	RCV002195523;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265482	139265482	C	T	139265482	-
NM_052813.5(CARD9):c.436G>C (p.Glu146Gln)	64170	CARD9	Uncertain significance	rs1407588129	RCV001221746;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265484	139265484	C	G	9:g.139265484C>G	-
NM_052813.5(CARD9):c.432C>T (p.Ile144=)	64170	CARD9	Likely benign	rs1274150394	RCV000534535;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265488	139265488	G	A	9:g.139265488G>A	ClinGen:CA467825883	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.430A>T (p.Ile144Phe)	64170	CARD9	Uncertain significance	-1	RCV002035954;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265490	139265490	T	A	139265490	-
NM_052813.5(CARD9):c.421G>A (p.Asp141Asn)	64170	CARD9	Uncertain significance	-1	RCV001904105;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265499	139265499	C	T	139265499	-
NM_052813.5(CARD9):c.412A>C (p.Ser138Arg)	64170	CARD9	Uncertain significance	-1	RCV001370805;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265508	139265508	T	G	139265508	-
NM_052813.5(CARD9):c.406C>T (p.Leu136=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs143393026	RCV000891268;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265514	139265514	G	A	9:g.139265514G>A	-
NM_052813.5(CARD9):c.402C>T (p.Thr134=)	64170	CARD9	Likely benign	-1	RCV001468923;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265518	139265518	G	A	139265518	-
NM_052813.5(CARD9):c.384G>A (p.Lys128=)	64170	CARD9	Likely benign	-1	RCV001414215;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265536	139265536	C	T	139265536	-
NM_052813.5(CARD9):c.372G>A (p.Met124Ile)	64170	CARD9	Uncertain significance	rs926038111	RCV001220036;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265548	139265548	C	T	9:g.139265548C>T	-
NM_052813.5(CARD9):c.371T>C (p.Met124Thr)	64170	CARD9	Uncertain significance	rs1274878660	RCV001218958;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265549	139265549	A	G	9:g.139265549A>G	-
NM_052813.5(CARD9):c.370A>G (p.Met124Val)	64170	CARD9	Uncertain significance	-1	RCV001863722;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265550	139265550	T	C	139265550	-
NM_052813.5(CARD9):c.367G>A (p.Val123Ile)	64170	CARD9	Uncertain significance	rs780846137	RCV001222034;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265553	139265553	C	T	9:g.139265553C>T	-
NM_052813.5(CARD9):c.363T>C (p.Thr121=)	64170	CARD9	Likely benign	-1	RCV001479366;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265557	139265557	A	G	139265557	-
NM_052813.5(CARD9):c.357G>A (p.Leu119=)	64170	CARD9	Likely benign	-1	RCV001417687;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265563	139265563	C	T	139265563	-
NM_052813.5(CARD9):c.352C>T (p.Leu118=)	64170	CARD9	Likely benign	-1	RCV002215188;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265568	139265568	G	A	139265568	-
NM_052813.5(CARD9):c.332G>A (p.Gly111Glu)	64170	CARD9	Uncertain significance	-1	RCV001360838;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265588	139265588	C	T	139265588	-
NM_052813.5(CARD9):c.330C>G (p.Ser110=)	64170	CARD9	Likely benign	rs375434244	RCV000917220\|RCV001478182;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265590	139265590	G	C	9:g.139265590G>C	-
NM_052813.5(CARD9):c.330C>T (p.Ser110=)	64170	CARD9	Likely benign	-1	RCV002130392;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265590	139265590	G	A	139265590	-
NM_052813.5(CARD9):c.327G>T (p.Ala109=)	64170	CARD9	Likely benign	rs139395199	RCV000893509;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265593	139265593	C	A	9:g.139265593C>A	-
NM_052813.5(CARD9):c.327G>A (p.Ala109=)	64170	CARD9	Likely benign	-1	RCV001428472;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265593	139265593	C	T	139265593	-
NM_052813.5(CARD9):c.326C>T (p.Ala109Val)	64170	CARD9	Uncertain significance	rs760681802	RCV000701249;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265594	139265594	G	A	9:g.139265594G>A	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.324C>T (p.Asp108=)	64170	CARD9	Benign/Likely benign	rs34971035	RCV000644006;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265596	139265596	G	A	NC_000009.11:g.139265596G>A	ClinGen:CA5333158	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.323-15T>C	64170	CARD9	Likely benign	-1	RCV002082264;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265612	139265612	A	G	139265612	-
NM_052813.5(CARD9):c.323-18C>T	64170	CARD9	Likely benign	-1	RCV002075528;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265615	139265615	G	A	139265615	-
NM_052813.5(CARD9):c.322+20_322+37del	64170	CARD9	Likely benign	-1	RCV001504022;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265739	139265756	GCGCCTCCCCTGTCGGCCC	G	139265738	-
NM_052813.5(CARD9):c.322+19G>A	64170	CARD9	Likely benign	-1	RCV002174791;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265757	139265757	C	T	139265757	-
NM_052813.5(CARD9):c.321C>T (p.Ile107=)	64170	CARD9	Uncertain significance	rs201249152	RCV001166304;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265777	139265777	G	A	9:g.139265777G>A	-
NM_052813.5(CARD9):c.313A>G (p.Met105Val)	64170	CARD9	Uncertain significance	rs374308759	RCV001035608;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265785	139265785	T	C	9:g.139265785T>C	-
NM_052813.5(CARD9):c.303C>T (p.Arg101=)	64170	CARD9	Likely benign	-1	RCV001480555;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265795	139265795	G	A	139265795	-
NM_052813.5(CARD9):c.301C>T (p.Arg101Cys)	64170	CARD9	Pathogenic	rs398122364	RCV000074441;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265797	139265797	G	A	9:g.139265797G>A	ClinGen:CA145375,UniProtKB:Q9H257#VAR_070829,OMIM:607212.0005	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.297G>A (p.Pro99=)	64170	CARD9	Benign	rs115131813	RCV000560751;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265801	139265801	C	T	NC_000009.11:g.139265801C>T	ClinGen:CA5333191	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.295C>A (p.Pro99Thr)	64170	CARD9	Uncertain significance	rs1488546054	RCV001338491;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265803	139265803	G	T	139265803	-
NM_052813.5(CARD9):c.288C>A (p.Gly96=)	64170	CARD9	Benign/Likely benign	rs137986801	RCV000960577\|RCV001702440;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088\|MedGen:CN517202	9	139265810	139265810	G	T	NC_000009.11:g.139265810G>T	ClinGen:CA5333197	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.285A>G (p.Thr95=)	64170	CARD9	Likely benign	rs34257731	RCV000644014\|RCV001424731;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265813	139265813	T	C	NC_000009.11:g.139265813T>C	ClinGen:CA5333199	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.271T>C (p.Tyr91His)	64170	CARD9	Conflicting interpretations of pathogenicity	rs921151054	RCV000788931\|RCV001067651;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265827	139265827	A	G	9:g.139265827A>G	-
NM_052813.5(CARD9):c.257A>G (p.Tyr86Cys)	64170	CARD9	Uncertain significance	rs1049019466	RCV001299098;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265841	139265841	T	C	139265841	-
NM_052813.5(CARD9):c.246C>T (p.Ser82=)	64170	CARD9	Likely benign	-1	RCV002164438;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265852	139265852	G	A	139265852	-
NM_052813.5(CARD9):c.240C>T (p.Leu80=)	64170	CARD9	Uncertain significance	rs778088966	RCV000390490;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265858	139265858	G	A	NC_000009.11:g.139265858G>A	ClinGen:CA5333207	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.228C>T (p.Tyr76=)	64170	CARD9	Benign	rs11145769	RCV000298446;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265870	139265870	G	A	NC_000009.11:g.139265870G>A	ClinGen:CA5333208	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.223G>A (p.Gly75Ser)	64170	CARD9	Uncertain significance	rs1437385436	RCV000807082;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265875	139265875	C	T	9:g.139265875C>T	-
NM_052813.5(CARD9):c.214G>A (p.Gly72Ser)	64170	CARD9	Uncertain significance	rs398122362	RCV000074438;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265884	139265884	C	T	9:g.139265884C>T	ClinGen:CA145368,UniProtKB:Q9H257#VAR_070828,OMIM:607212.0002	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.214G>T (p.Gly72Cys)	64170	CARD9	Uncertain significance	rs398122362	RCV000700097;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265884	139265884	C	A	9:g.139265884C>A	-	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.213C>T (p.Thr71=)	64170	CARD9	Likely benign	-1	RCV001447916;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265885	139265885	G	A	139265885	-
NM_052813.5(CARD9):c.209G>A (p.Arg70Gln)	64170	CARD9	Uncertain significance	rs376793464	RCV001352219;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265889	139265889	C	T	139265889	-
NM_052813.5(CARD9):c.185-4G>A	64170	CARD9	Likely benign	rs536158625	RCV000644017;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265917	139265917	C	T	NC_000009.11:g.139265917C>T	ClinGen:CA5333217	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.185-5C>T	64170	CARD9	Conflicting interpretations of pathogenicity	rs760533705	RCV000925820\|RCV001436350;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265918	139265918	G	A	9:g.139265918G>A	-
NM_052813.5(CARD9):c.185-7C>T	64170	CARD9	Uncertain significance	-1	RCV001994071;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265920	139265920	G	A	139265920	-
NM_052813.5(CARD9):c.185-11C>T	64170	CARD9	Likely benign	-1	RCV002154450;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265924	139265924	G	A	139265924	-
NM_052813.5(CARD9):c.185-13C>T	64170	CARD9	Likely benign	-1	RCV002096956;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139265926	139265926	G	A	139265926	-
NM_052813.5(CARD9):c.184+17G>A	64170	CARD9	Uncertain significance	-1	RCV002050213;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266330	139266330	C	T	139266330	-
NM_052813.5(CARD9):c.184+16C>T	64170	CARD9	Likely benign	-1	RCV002151474;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266331	139266331	G	A	139266331	-
NM_052813.5(CARD9):c.184+15dup	64170	CARD9	Likely benign	-1	RCV002135584;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266331	139266332	G	GC	139266331	-
NM_052813.5(CARD9):c.184+15G>A	64170	CARD9	Likely benign	-1	RCV002116218;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266332	139266332	C	T	139266332	-
NM_052813.5(CARD9):c.170G>A (p.Arg57His)	64170	CARD9	Uncertain significance	rs940550122	RCV001064701;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266361	139266361	C	T	9:g.139266361C>T	-
NM_052813.5(CARD9):c.158A>G (p.Asn53Ser)	64170	CARD9	Uncertain significance	-1	RCV002025599;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266373	139266373	T	C	139266373	-
NM_052813.5(CARD9):c.156C>A (p.Pro52=)	64170	CARD9	Likely benign	rs926803855	RCV000942466\|RCV001447954;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266375	139266375	G	T	9:g.139266375G>T	-
NM_052813.5(CARD9):c.150C>T (p.Ser50=)	64170	CARD9	Likely benign	-1	RCV002085957;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266381	139266381	G	A	139266381	-
NM_052813.5(CARD9):c.135G>A (p.Glu45=)	64170	CARD9	Likely benign	-1	RCV002211659;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266396	139266396	C	T	139266396	-
NM_052813.5(CARD9):c.129T>C (p.Asp43=)	64170	CARD9	Likely benign	-1	RCV001446308;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266402	139266402	A	G	139266402	-
NM_052813.5(CARD9):c.126C>T (p.Pro42=)	64170	CARD9	Benign	rs10781499	RCV000351119\|RCV000455755;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088\|MedGen:CN169374	9	139266405	139266405	G	A	NC_000009.11:g.139266405G>A	ClinGen:CA5333246	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.96T>C (p.Pro32=)	64170	CARD9	Likely benign	-1	RCV002130165;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266435	139266435	A	G	139266435	-
NM_052813.5(CARD9):c.86G>A (p.Arg29His)	64170	CARD9	Uncertain significance	rs201587695	RCV001216268;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266445	139266445	C	T	9:g.139266445C>T	-
NM_052813.5(CARD9):c.78C>T (p.Asp26=)	64170	CARD9	Likely benign	-1	RCV002112069;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266453	139266453	G	A	139266453	-
NM_052813.5(CARD9):c.75C>T (p.Ile25=)	64170	CARD9	Likely benign	-1	RCV001471029;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266456	139266456	G	A	139266456	-
NM_052813.5(CARD9):c.75C>G (p.Ile25Met)	64170	CARD9	Uncertain significance	-1	RCV002008931;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266456	139266456	G	C	139266456	-
NM_052813.5(CARD9):c.68C>T (p.Ser23Leu)	64170	CARD9	Uncertain significance	rs775267971	RCV000644001;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266463	139266463	G	A	NC_000009.11:g.139266463G>A	ClinGen:CA5333258	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.59C>T (p.Thr20Met)	64170	CARD9	Uncertain significance	rs763713013	RCV001350890;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266472	139266472	G	A	139266472	-
NM_052813.5(CARD9):c.54G>A (p.Arg18=)	64170	CARD9	Likely benign	rs761273064	RCV000926120\|RCV001502354;	N	MedGen:CN517202\|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266477	139266477	C	T	9:g.139266477C>T	-
NM_052813.5(CARD9):c.50T>C (p.Phe17Ser)	64170	CARD9	Uncertain significance	rs1833288953	RCV001059439;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266481	139266481	A	G	9:g.139266481A>G	-
NM_052813.5(CARD9):c.37G>A (p.Val13Ile)	64170	CARD9	Uncertain significance	-1	RCV001987528;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266494	139266494	C	T	139266494	-
NM_052813.5(CARD9):c.35G>A (p.Ser12Asn)	64170	CARD9	Benign	rs4077515	RCV000408113\|RCV000454561;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088\|MedGen:CN169374	9	139266496	139266496	C	T	NC_000009.11:g.139266496C>T	ClinGen:CA5333266,UniProtKB:Q9H257#VAR_048607	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.25G>A (p.Glu9Lys)	64170	CARD9	Uncertain significance	rs369865691	RCV000824334;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266506	139266506	C	T	9:g.139266506C>T	-
NM_052813.5(CARD9):c.24C>T (p.Asp8=)	64170	CARD9	Benign	rs148523221	RCV000959859;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266507	139266507	G	A	9:g.139266507G>A	-
NM_052813.5(CARD9):c.19G>A (p.Asp7Asn)	64170	CARD9	Uncertain significance	rs374091388	RCV000311218;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266512	139266512	C	T	NC_000009.11:g.139266512C>T	ClinGen:CA5333270	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.18C>T (p.Asn6=)	64170	CARD9	Likely benign	-1	RCV002171788;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266513	139266513	G	A	139266513	-
NM_052813.5(CARD9):c.13G>A (p.Glu5Lys)	64170	CARD9	Uncertain significance	rs371061371	RCV001326189;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266518	139266518	C	T	139266518	-
NM_052813.5(CARD9):c.12C>T (p.Tyr4=)	64170	CARD9	Conflicting interpretations of pathogenicity	rs35051231	RCV000644012\|RCV001702361;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088\|MedGen:CN517202	9	139266519	139266519	G	A	NC_000009.11:g.139266519G>A	ClinGen:CA5333273	C1859353 212050 Candidiasis, familial, 2;
NM_052813.5(CARD9):c.10T>C (p.Tyr4His)	64170	CARD9	Uncertain significance	rs775128842	RCV001035607;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139266521	139266521	A	G	9:g.139266521A>G	-
NM_052813.5(CARD9):c.-24A>C	64170	CARD9	Benign	rs73565169	RCV000271466;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139267991	139267991	T	G	NC_000009.11:g.139267991T>G	ClinGen:CA10632999	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-73C>T	64170	CARD9	Uncertain significance	rs916468137	RCV001166818;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139268040	139268040	G	A	9:g.139268040G>A	-
NM_052813.5(CARD9):c.-82C>G	64170	CARD9	Likely benign	rs78291627	RCV000310178;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139268049	139268049	G	C	NC_000009.11:g.139268049G>C	ClinGen:CA10629583	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-113C>T	64170	CARD9	Uncertain significance	rs3812557	RCV001166819;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139268080	139268080	G	A	9:g.139268080G>A	-
NM_052813.5(CARD9):c.-119C>G	64170	CARD9	Uncertain significance	rs190979325	RCV000362231;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139268086	139268086	G	C	NC_000009.11:g.139268086G>C	ClinGen:CA10633000	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-126C>A	64170	CARD9	Uncertain significance	rs575640702	RCV000269944;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139268093	139268093	G	T	NC_000009.11:g.139268093G>T	ClinGen:CA10629585	CN239217 Familial Candidiasis, Recessive;
NM_052813.5(CARD9):c.-139G>A	64170	CARD9	Uncertain significance	rs886063707	RCV000322586;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139268106	139268106	C	T	NC_000009.11:g.139268106C>T	ClinGen:CA10626886	CN239217 Familial Candidiasis, Recessive;
NC_000009.12:g.136373681C>T	64170	CARD9	Uncertain significance	rs1239477335	RCV001168533;	N	MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088	9	139268133	139268133	C	T	9:g.139268133C>T	-

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