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 | 1135314 | RCV000331427; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258462 | 139258462 | | | 9:g.139258462A>G | ClinGen:CA5332533 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.*246C>G | 64170 | CARD9 | Likely benign | 570507065 | RCV001168427; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258508 | 139258508 | | | 9:g.139258508G>C | - | | |
NM_052813.5(CARD9):c.*244T>G | 64170 | CARD9 | Uncertain significance | 373574599 | RCV000385916; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258510 | 139258510 | | | 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 | | | | - | 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 | | | -1 | - | | |
NM_052813.5(CARD9):c.*139G>A | 64170 | CARD9 | Uncertain significance | 564615796 | RCV000291596; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258615 | 139258615 | | | 9:g.139258615C>T | ClinGen:CA5332551 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.*130G>A | 64170 | CARD9 | Uncertain significance | 545913331 | RCV000347008; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258624 | 139258624 | | | 9:g.139258624C>T | ClinGen:CA5332554 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.*57C>T | 64170 | CARD9 | Uncertain significance | 1345187433 | RCV001168428; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258697 | 139258697 | | | 9:g.139258697G>A | - | | |
NC_000009.11:g.(?_139258754)_(139325589_?)dup | 64170 | CARD9 | Uncertain significance | -1 | RCV003122974; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258754 | 139325589 | | | | - | | |
NM_052813.5(CARD9):c.1609T>C (p.Ter537Gln) | 64170 | CARD9 | Uncertain significance | 1405807688 | RCV000779577; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258756 | 139258756 | | | NC_000009.11:g.139258756A>G | - | | |
NM_052813.5(CARD9):c.1605C>T (p.Gly535=) | 64170 | CARD9 | Likely benign | -1 | RCV002578304; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258760 | 139258760 | | | | - | | |
NM_052813.5(CARD9):c.1598C>T (p.Thr533Ile) | 64170 | CARD9 | Uncertain significance | -1 | RCV002610873; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258767 | 139258767 | | | NC_000009.11:g.139258767G>A | - | | |
NM_052813.5(CARD9):c.1596C>T (p.Asp532=) | 64170 | CARD9 | Benign | 151057624 | RCV000546086; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258769 | 139258769 | | | 9:g.139258769G>A | ClinGen:CA5332571 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1592C>T (p.Thr531Ile) | 64170 | CARD9 | Uncertain significance | -1 | RCV002801872; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258773 | 139258773 | | | NC_000009.11:g.139258773G>A | - | | |
NM_052813.5(CARD9):c.1586ACA[1] (p.Asn530del) | 64170 | CARD9 | Uncertain significance | 1833060032 | RCV001043259; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258774 | 139258776 | | | 9:g.139258774_139258776del | - | | |
NM_052813.5(CARD9):c.1590C>T (p.Asn530=) | 64170 | CARD9 | Likely benign | -1 | RCV002599231; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258775 | 139258775 | | | | - | | |
NM_052813.5(CARD9):c.1578G>A (p.Thr526=) | 64170 | CARD9 | Likely benign | 765707859 | RCV001504233; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258787 | 139258787 | | | 9:g.139258787C>T | - | | |
NM_052813.5(CARD9):c.1577C>G (p.Thr526Arg) | 64170 | CARD9 | Uncertain significance | 1162006405 | RCV001965833; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258788 | 139258788 | | | 139258788 | - | | |
NM_052813.5(CARD9):c.1576A>G (p.Thr526Ala) | 64170 | CARD9 | Uncertain significance | 2131430592 | RCV002027145; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258789 | 139258789 | | | 139258789 | - | | |
NM_052813.5(CARD9):c.1574C>T (p.Thr525Ile) | 64170 | CARD9 | Uncertain significance | 1425733902 | RCV001253957; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258791 | 139258791 | | | 9:g.139258791G>A | - | | |
NM_052813.5(CARD9):c.1571A>C (p.Asn524Thr) | 64170 | CARD9 | Uncertain significance | 141310444 | RCV000644003|RCV002533266; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139258794 | 139258794 | | | 9:g.139258794T>G | ClinGen:CA5332575 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1567G>C (p.Glu523Gln) | 64170 | CARD9 | Uncertain significance | 144943839 | RCV000801137|RCV002534671; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139258798 | 139258798 | | | 9:g.139258798C>G | - | | |
NM_052813.5(CARD9):c.1565G>A (p.Arg522Gln) | 64170 | CARD9 | Uncertain significance | 745730969 | RCV001339894; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258800 | 139258800 | | | 139258800 | - | | |
NM_052813.5(CARD9):c.1563C>G (p.Asp521Glu) | 64170 | CARD9 | Uncertain significance | 2131430667 | RCV002011427; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258802 | 139258802 | | | 139258802 | - | | |
NM_052813.5(CARD9):c.1562A>C (p.Asp521Ala) | 64170 | CARD9 | Uncertain significance | 2131430673 | RCV002029778; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258803 | 139258803 | | | 139258803 | - | | |
NM_052813.5(CARD9):c.1554GGA[2] (p.Glu520del) | 64170 | CARD9 | Uncertain significance | 756632228 | RCV002014897; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258803 | 139258805 | | | 139258802 | - | | |
NM_052813.5(CARD9):c.1561G>A (p.Asp521Asn) | 64170 | CARD9 | Uncertain significance | -1 | RCV002634415; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258804 | 139258804 | | | NC_000009.11:g.139258804C>T | - | | |
NM_052813.5(CARD9):c.1561G>C (p.Asp521His) | 64170 | CARD9 | Uncertain significance | -1 | RCV003048484; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258804 | 139258804 | | | NC_000009.11:g.139258804C>G | - | | |
NM_052813.5(CARD9):c.1552G>T (p.Gly518Trp) | 64170 | CARD9 | Uncertain significance | 888151831 | RCV001337401; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258813 | 139258813 | | | 139258813 | - | | |
NM_052813.5(CARD9):c.1551G>A (p.Gln517=) | 64170 | CARD9 | Benign | 77469895 | RCV000880963; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258814 | 139258814 | | | 9:g.139258814C>T | - | | |
NM_052813.5(CARD9):c.1551G>C (p.Gln517His) | 64170 | CARD9 | Uncertain significance | -1 | RCV003051376; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258814 | 139258814 | | | NC_000009.11:g.139258814C>G | - | | |
NM_052813.5(CARD9):c.1546C>T (p.Arg516Trp) | 64170 | CARD9 | Uncertain significance | 773889930 | RCV001063970; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258819 | 139258819 | | | 9:g.139258819G>A | - | | |
NM_052813.5(CARD9):c.1545G>A (p.Trp515Ter) | 64170 | CARD9 | Uncertain significance | 761418899 | RCV002049893; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258820 | 139258820 | | | 139258820 | - | | |
NM_052813.5(CARD9):c.1541G>C (p.Gly514Ala) | 64170 | CARD9 | Uncertain significance | 1036710533 | RCV001313963; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258824 | 139258824 | | | 139258824 | - | | |
NM_052813.5(CARD9):c.1540G>A (p.Gly514Arg) | 64170 | CARD9 | Uncertain significance | 766890741 | RCV001940951; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258825 | 139258825 | | | 139258825 | - | | |
NM_052813.5(CARD9):c.1536G>A (p.Gln512=) | 64170 | CARD9 | Likely benign | 761020680 | RCV002190201; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258829 | 139258829 | | | 139258829 | - | | |
NM_052813.5(CARD9):c.1526G>A (p.Arg509Lys) | 64170 | CARD9 | Uncertain significance | -1 | RCV002658018; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258839 | 139258839 | | | NC_000009.11:g.139258839C>T | - | | |
NM_052813.5(CARD9):c.1520C>T (p.Ala507Val) | 64170 | CARD9 | Uncertain significance | 1405347175 | RCV002009771; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258845 | 139258845 | | | 139258845 | - | | |
NM_052813.5(CARD9):c.1517G>A (p.Arg506His) | 64170 | CARD9 | Uncertain significance | 1285747619 | RCV001949068; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258848 | 139258848 | | | 139258848 | - | | |
NM_052813.5(CARD9):c.1512-9T>C | 64170 | CARD9 | Likely benign | -1 | RCV003037928; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258862 | 139258862 | | | NC_000009.11:g.139258862A>G | - | | |
NM_052813.5(CARD9):c.1512-18A>G | 64170 | CARD9 | Likely benign | 1833064645 | RCV002118339; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258871 | 139258871 | | | 139258871 | - | | |
NM_052813.5(CARD9):c.1512-20T>C | 64170 | CARD9 | Likely benign | 1212621634 | RCV002100205; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258873 | 139258873 | | | 139258873 | - | | |
NM_052813.5(CARD9):c.1511+19G>A | 64170 | CARD9 | Likely benign | 1016041460 | RCV002157212; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258916 | 139258916 | | | 139258916 | - | | |
NM_052813.5(CARD9):c.1511+17del | 64170 | CARD9 | Benign | -1 | RCV002736595; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258918 | 139258918 | | | NC_000009.11:g.139258922del | - | | |
NM_052813.5(CARD9):c.1511+7G>A | 64170 | CARD9 | Likely benign | 1437596331 | RCV001457177; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258928 | 139258928 | | | 139258928 | - | | |
NM_052813.5(CARD9):c.1511+5G>A | 64170 | CARD9 | Uncertain significance | -1 | RCV002938780; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258930 | 139258930 | | | NC_000009.11:g.139258930C>T | - | | |
NM_052813.5(CARD9):c.1507_1509del (p.Arg504del) | 64170 | CARD9 | Uncertain significance | 758002574 | RCV001235490; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258937 | 139258939 | | | 9:g.139258937_139258939del | - | | |
NM_052813.5(CARD9):c.1507C>T (p.Arg503Cys) | 64170 | CARD9 | Uncertain significance | -1 | RCV002608913; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258939 | 139258939 | | | NC_000009.11:g.139258939G>A | - | | |
NM_052813.5(CARD9):c.1500G>A (p.Glu500=) | 64170 | CARD9 | Likely benign | 1430111733 | RCV001475338; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258946 | 139258946 | | | 139258946 | - | | |
NM_052813.5(CARD9):c.1492A>T (p.Ser498Cys) | 64170 | CARD9 | Uncertain significance | 974044165 | RCV001303837; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258954 | 139258954 | | | 139258954 | - | | |
NM_052813.5(CARD9):c.1489G>A (p.Glu497Lys) | 64170 | CARD9 | Uncertain significance | 778435234 | RCV002030128; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258957 | 139258957 | | | 139258957 | - | | |
NM_052813.5(CARD9):c.1481G>A (p.Arg494His) | 64170 | CARD9 | Uncertain significance | 149308743 | RCV001253958; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258965 | 139258965 | | | 9:g.139258965C>T | - | | |
NM_052813.5(CARD9):c.1479G>A (p.Arg493=) | 64170 | CARD9 | Likely benign | 368839062 | RCV000644015; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258967 | 139258967 | | | 9:g.139258967C>T | ClinGen:CA5332613 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1465G>A (p.Glu489Lys) | 64170 | CARD9 | Uncertain significance | 1453391726 | RCV001971817; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258981 | 139258981 | | | 139258981 | - | | |
NM_052813.5(CARD9):c.1464C>A (p.Pro488=) | 64170 | CARD9 | Likely benign | 765637340 | RCV001938988; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258982 | 139258982 | | | 139258982 | - | | |
NM_052813.5(CARD9):c.1464C>G (p.Pro488=) | 64170 | CARD9 | Likely benign | -1 | RCV002685645; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258982 | 139258982 | | | | - | | |
NM_052813.5(CARD9):c.1456G>C (p.Glu486Gln) | 64170 | CARD9 | Uncertain significance | -1 | RCV002796731; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258990 | 139258990 | | | NC_000009.11:g.139258990C>G | - | | |
NM_052813.5(CARD9):c.1452C>T (p.Ser484=) | 64170 | CARD9 | Likely benign | 758540382 | RCV000644009; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139258994 | 139258994 | | | 9:g.139258994G>A | ClinGen:CA467716728 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1446G>C (p.Leu482=) | 64170 | CARD9 | Likely benign | 1833070000 | RCV002187838; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259000 | 139259000 | | | 139259000 | - | | |
NM_052813.5(CARD9):c.1441G>C (p.Gly481Arg) | 64170 | CARD9 | Uncertain significance | -1 | RCV002823700; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259005 | 139259005 | | | NC_000009.11:g.139259005C>G | - | | |
NM_052813.5(CARD9):c.1439C>A (p.Ala480Glu) | 64170 | CARD9 | Uncertain significance | -1 | RCV002690792; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259007 | 139259007 | | | NC_000009.11:g.139259007G>T | - | | |
NM_052813.5(CARD9):c.1438G>A (p.Ala480Thr) | 64170 | CARD9 | Uncertain significance | -1 | RCV002695732; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259008 | 139259008 | | | NC_000009.11:g.139259008C>T | - | | |
NM_052813.5(CARD9):c.1437C>A (p.Asp479Glu) | 64170 | CARD9 | Uncertain significance | 1406534280 | RCV001208585; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259009 | 139259009 | | | 9:g.139259009G>T | - | | |
NM_052813.5(CARD9):c.1435G>A (p.Asp479Asn) | 64170 | CARD9 | Uncertain significance | 909815670 | RCV001881797; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259011 | 139259011 | | | 139259011 | - | | |
NM_052813.5(CARD9):c.1435G>T (p.Asp479Tyr) | 64170 | CARD9 | Uncertain significance | -1 | RCV002828749; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259011 | 139259011 | | | NC_000009.11:g.139259011C>A | - | | |
NM_052813.5(CARD9):c.1435-6C>T | 64170 | CARD9 | Likely benign | -1 | RCV002588148; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259017 | 139259017 | | | NC_000009.11:g.139259017G>A | - | | |
NM_052813.5(CARD9):c.1435-27_1435-20del | 64170 | CARD9 | Likely benign | 2131431383 | RCV002205938; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259031 | 139259038 | | | 139259030 | - | | |
NM_052813.5(CARD9):c.1434+14G>A | 64170 | CARD9 | Uncertain significance | 968537290 | RCV002003639; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259579 | 139259579 | | | 139259579 | - | | |
NM_052813.5(CARD9):c.1434+13C>T | 64170 | CARD9 | Likely benign | 764189894 | RCV002186464; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259580 | 139259580 | | | 139259580 | - | | |
NM_052813.5(CARD9):c.1434+1G>C | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 141992399 | RCV001027776|RCV001092462; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139259592 | 139259592 | | | 9:g.139259592C>G | ClinGen:CA500026 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1434T>C (p.His478=) | 64170 | CARD9 | Uncertain significance | 150480370 | RCV001363256; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259593 | 139259593 | | | 139259593 | - | | |
NM_052813.5(CARD9):c.1433A>G (p.His478Arg) | 64170 | CARD9 | Uncertain significance | 1588719771 | RCV000818941; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259594 | 139259594 | | | 9:g.139259594T>C | - | | |
NM_052813.5(CARD9):c.1432C>G (p.His478Asp) | 64170 | CARD9 | Uncertain significance | 2131432720 | RCV001922071; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259595 | 139259595 | | | 139259595 | - | | |
NM_052813.5(CARD9):c.1424G>T (p.Arg475Leu) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 374115294 | RCV001321087|RCV002543818; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139259603 | 139259603 | | | 139259603 | - | | |
NM_052813.5(CARD9):c.1424G>A (p.Arg475Gln) | 64170 | CARD9 | Uncertain significance | 374115294 | RCV001944942; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259603 | 139259603 | | | 139259603 | - | | |
NM_052813.5(CARD9):c.1423C>T (p.Arg475Trp) | 64170 | CARD9 | Likely benign | 202052103 | RCV001453055; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259604 | 139259604 | | | 139259604 | - | | |
NM_052813.5(CARD9):c.1421T>C (p.Leu474Ser) | 64170 | CARD9 | Uncertain significance | 1833090922 | RCV001339316; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259606 | 139259606 | | | 139259606 | - | | |
NM_052813.5(CARD9):c.1410G>A (p.Gln470=) | 64170 | CARD9 | Likely benign | -1 | RCV003053084; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259617 | 139259617 | | | | - | | |
NM_052813.5(CARD9):c.1407C>A (p.His469Gln) | 64170 | CARD9 | Uncertain significance | 1588719803 | RCV001215537; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259620 | 139259620 | | | 9:g.139259620G>T | - | | |
NM_052813.5(CARD9):c.1405C>T (p.His469Tyr) | 64170 | CARD9 | Uncertain significance | 770567400 | RCV001064933; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259622 | 139259622 | | | 9:g.139259622G>A | - | | |
NM_052813.5(CARD9):c.1395T>C (p.Phe465=) | 64170 | CARD9 | Likely benign | 776273002 | RCV002144960; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259632 | 139259632 | | | 139259632 | - | | |
NM_052813.5(CARD9):c.1393T>C (p.Phe465Leu) | 64170 | CARD9 | Uncertain significance | 373635926 | RCV000644002|RCV002523759; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139259634 | 139259634 | | | 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 | 1266195975 | RCV001372907; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259636 | 139259636 | | | 139259636 | - | | |
NM_052813.5(CARD9):c.1391C>G (p.Pro464Arg) | 64170 | CARD9 | Uncertain significance | -1 | RCV002295454; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259636 | 139259636 | | | 139259636 | - | | |
NM_052813.5(CARD9):c.1389G>A (p.Gln463=) | 64170 | CARD9 | Likely benign | 770178187 | RCV001476112; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259638 | 139259638 | | | 139259638 | - | | |
NM_052813.5(CARD9):c.1383G>A (p.Pro461=) | 64170 | CARD9 | Benign/Likely benign | 138344913 | RCV000644004|RCV003326421; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139259644 | 139259644 | | | 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 | 774571551 | RCV000643999; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259645 | 139259645 | | | 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 | 759571184 | RCV001503453; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259650 | 139259650 | | | 139259650 | - | | |
NM_052813.5(CARD9):c.1374G>C (p.Gly458=) | 64170 | CARD9 | Likely benign | 550933016 | RCV001488600; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259653 | 139259653 | | | 139259653 | - | | |
NM_052813.5(CARD9):c.1373G>C (p.Gly458Ala) | 64170 | CARD9 | Likely benign | 144348041 | RCV000910713; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259654 | 139259654 | | | 9:g.139259654C>G | - | | |
NM_052813.5(CARD9):c.1369G>A (p.Gly457Ser) | 64170 | CARD9 | Uncertain significance | 756953515 | RCV001053265; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259658 | 139259658 | | | 9:g.139259658C>T | - | | |
NM_052813.5(CARD9):c.1361G>A (p.Cys454Tyr) | 64170 | CARD9 | Uncertain significance | 200189320 | RCV001321333; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259666 | 139259666 | | | 139259666 | - | | |
NM_052813.5(CARD9):c.1359C>A (p.Gly453=) | 64170 | CARD9 | Likely benign | 1489024588 | RCV000644016; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259668 | 139259668 | | | 9:g.139259668G>T | ClinGen:CA467716917 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1358G>A (p.Gly453Asp) | 64170 | CARD9 | Uncertain significance | 745340091 | RCV001295782; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259669 | 139259669 | | | 139259669 | - | | |
NM_052813.5(CARD9):c.1358-5dup | 64170 | CARD9 | Likely benign | 1833094187 | RCV002079094; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259673 | 139259674 | | | 139259673 | - | | |
NM_052813.5(CARD9):c.1358-18C>T | 64170 | CARD9 | Uncertain significance | -1 | RCV002717375; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259687 | 139259687 | | | NC_000009.11:g.139259687G>A | - | | |
NM_052813.5(CARD9):c.1358-19G>A | 64170 | CARD9 | Likely benign | 768908899 | RCV001436408; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139259688 | 139259688 | | | 139259688 | - | | |
NM_052813.5(CARD9):c.1357+16C>T | 64170 | CARD9 | Benign | 61744202 | RCV001510165; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261236 | 139261236 | | | 139261236 | - | | |
NM_052813.5(CARD9):c.1357+13C>T | 64170 | CARD9 | Likely benign | -1 | RCV002583018; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261239 | 139261239 | | | NC_000009.11:g.139261239G>A | - | | |
NM_052813.5(CARD9):c.1357+5G>C | 64170 | CARD9 | Uncertain significance | -1 | RCV002824074; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261247 | 139261247 | | | NC_000009.11:g.139261247C>G | - | | |
NM_052813.5(CARD9):c.1355A>T (p.Lys452Ile) | 64170 | CARD9 | Uncertain significance | 1833134746 | RCV001870158; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261254 | 139261254 | | | 139261254 | - | | |
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs) | 64170 | CARD9 | Pathogenic/Likely pathogenic | 746470735 | RCV000697296; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261255 | 139261258 | | | NC_000009.11:g.139261257_139261260del | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1351G>A (p.Asp451Asn) | 64170 | CARD9 | Uncertain significance | 1411071075 | RCV001238490; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261258 | 139261258 | | | 9:g.139261258C>T | - | | |
NM_052813.5(CARD9):c.1350dup (p.Asp451fs) | 64170 | CARD9 | Pathogenic | -1 | RCV002890759; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261258 | 139261259 | | | NC_000009.11:g.139261259dup | - | | |
NM_052813.5(CARD9):c.1348_1349del (p.Ser450fs) | 64170 | CARD9 | Pathogenic | -1 | RCV002958124; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261260 | 139261261 | | | NC_000009.11:g.139261261AG[1] | - | | |
NM_052813.5(CARD9):c.1341C>T (p.Thr447=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 774391206 | RCV000788932|RCV001078650; | N | MedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261268 | 139261268 | | | 9:g.139261268G>A | - | | |
NM_052813.5(CARD9):c.1335G>A (p.Glu445=) | 64170 | CARD9 | Likely benign | 1400378173 | RCV001420096; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261274 | 139261274 | | | 139261274 | - | | |
NM_052813.5(CARD9):c.1333G>A (p.Glu445Lys) | 64170 | CARD9 | Uncertain significance | 767361965 | RCV001326569; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261276 | 139261276 | | | 139261276 | - | | |
NM_052813.5(CARD9):c.1330C>G (p.Leu444Val) | 64170 | CARD9 | Uncertain significance | 750049509 | RCV000398422; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261279 | 139261279 | | | NC_000009.11:g.139261279G>C | ClinGen:CA5332701 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.1315T>C (p.Ser439Pro) | 64170 | CARD9 | Uncertain significance | -1 | RCV002634746; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261294 | 139261294 | | | NC_000009.11:g.139261294A>G | - | | |
NM_052813.5(CARD9):c.1315T>G (p.Ser439Ala) | 64170 | CARD9 | Uncertain significance | -1 | RCV003025557; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261294 | 139261294 | | | NC_000009.11:g.139261294A>C | - | | |
NM_052813.5(CARD9):c.1312-13CT[2] | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 770532797 | RCV000644013; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261305 | 139261306 | | | NC_000009.11:g.139261305AG[2] | ClinGen:CA5332705 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1312-13C>T | 64170 | CARD9 | Likely benign | -1 | RCV002591339; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261310 | 139261310 | | | NC_000009.11:g.139261310G>A | - | | |
NM_052813.5(CARD9):c.1311+20G>A | 64170 | CARD9 | Likely benign | -1 | RCV002923419; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261648 | 139261648 | | | NC_000009.11:g.139261648C>T | - | | |
NM_052813.5(CARD9):c.1311+18C>T | 64170 | CARD9 | Benign | 200873988 | RCV002120713; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261650 | 139261650 | | | 139261650 | - | | |
NM_052813.5(CARD9):c.1294C>T (p.Pro432Ser) | 64170 | CARD9 | Uncertain significance | 781498143 | RCV001950583|RCV002562788; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139261685 | 139261685 | | | 139261685 | - | | |
NM_052813.5(CARD9):c.1289dup (p.Ser431fs) | 64170 | CARD9 | Pathogenic | 1564367364 | RCV000687133; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261689 | 139261690 | | | 9:g.139261689_139261690insC | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1287T>C (p.Asp429=) | 64170 | CARD9 | Likely benign | -1 | RCV003044218; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261692 | 139261692 | | | | - | | |
NM_052813.5(CARD9):c.1281G>C (p.Leu427=) | 64170 | CARD9 | Likely benign | -1 | RCV002583968; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261698 | 139261698 | | | | - | | |
NM_052813.5(CARD9):c.1278C>T (p.Asp426=) | 64170 | CARD9 | Likely benign | 772921675 | RCV002183401; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261701 | 139261701 | | | 139261701 | - | | |
NM_052813.5(CARD9):c.1277A>G (p.Asp426Gly) | 64170 | CARD9 | Uncertain significance | 760553828 | RCV000810181; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261702 | 139261702 | | | 9:g.139261702T>C | - | | |
NM_052813.5(CARD9):c.1276G>A (p.Asp426Asn) | 64170 | CARD9 | Uncertain significance | 770587024 | RCV001216375; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261703 | 139261703 | | | 9:g.139261703C>T | - | | |
NM_052813.5(CARD9):c.1275C>T (p.Ser425=) | 64170 | CARD9 | Likely benign | 776362712 | RCV001477759; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261704 | 139261704 | | | 139261704 | - | | |
NM_052813.5(CARD9):c.1270-35_1270-5dup | 64170 | CARD9 | Uncertain significance | 1833145908 | RCV001295819; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261713 | 139261714 | | | 139261713 | - | | |
NM_052813.5(CARD9):c.1270-5C>T | 64170 | CARD9 | Likely benign | -1 | RCV003031672; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261714 | 139261714 | | | NC_000009.11:g.139261714G>A | - | | |
NM_052813.5(CARD9):c.1270-16T>C | 64170 | CARD9 | Likely benign | -1 | RCV003091043; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139261725 | 139261725 | | | NC_000009.11:g.139261725A>G | - | | |
NM_052813.5(CARD9):c.1269+19G>A | 64170 | CARD9 | Likely benign | -1 | RCV003049687; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262070 | 139262070 | | | NC_000009.11:g.139262070C>T | - | | |
NM_052813.5(CARD9):c.1269+10G>C | 64170 | CARD9 | Likely benign | -1 | RCV003035617; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262079 | 139262079 | | | NC_000009.11:g.139262079C>G | - | | |
NM_052813.5(CARD9):c.1269+8T>G | 64170 | CARD9 | Likely benign | -1 | RCV002843379; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262081 | 139262081 | | | NC_000009.11:g.139262081A>C | - | | |
NM_052813.5(CARD9):c.1264G>A (p.Val422Ile) | 64170 | CARD9 | Uncertain significance | 374295826 | RCV001303338; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262094 | 139262094 | | | 139262094 | - | | |
NM_052813.5(CARD9):c.1263C>T (p.Leu421=) | 64170 | CARD9 | Likely benign | 559114246 | RCV001476848; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262095 | 139262095 | | | 139262095 | - | | |
NM_052813.5(CARD9):c.1260G>A (p.Thr420=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 142757984 | RCV000303645; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262098 | 139262098 | | | 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 | 767880614 | RCV001919834; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262099 | 139262099 | | | 139262099 | - | | |
NM_052813.5(CARD9):c.1257G>A (p.Glu419=) | 64170 | CARD9 | Likely benign | 1291912498 | RCV001454272; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262101 | 139262101 | | | 9:g.139262101C>T | - | | |
NM_052813.5(CARD9):c.1250A>T (p.Gln417Leu) | 64170 | CARD9 | Uncertain significance | -1 | RCV002616322; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262108 | 139262108 | | | NC_000009.11:g.139262108T>A | - | | |
NM_052813.5(CARD9):c.1244G>A (p.Arg415Gln) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 147340708 | RCV001038901|RCV002551432; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139262114 | 139262114 | | | 9:g.139262114C>T | - | | |
NM_052813.5(CARD9):c.1243C>T (p.Arg415Trp) | 64170 | CARD9 | Uncertain significance | 754119986 | RCV001204001; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262115 | 139262115 | | | 9:g.139262115G>A | - | | |
NM_052813.5(CARD9):c.1237C>T (p.Leu413Phe) | 64170 | CARD9 | Uncertain significance | 752685448 | RCV001301601; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262121 | 139262121 | | | 139262121 | - | | |
NM_052813.5(CARD9):c.1228G>A (p.Glu410Lys) | 64170 | CARD9 | Uncertain significance | -1 | RCV002303571; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262130 | 139262130 | | | 139262130 | - | | |
NM_052813.5(CARD9):c.1225G>A (p.Val409Met) | 64170 | CARD9 | Uncertain significance | 368200571 | RCV001047731; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262133 | 139262133 | | | 9:g.139262133C>T | - | | |
NM_052813.5(CARD9):c.1215G>A (p.Gln405=) | 64170 | CARD9 | Likely benign | 139454076 | RCV000956762; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262143 | 139262143 | | | 9:g.139262143C>T | - | | |
NM_052813.5(CARD9):c.1213C>T (p.Gln405Ter) | 64170 | CARD9 | Pathogenic | -1 | RCV003022379; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262145 | 139262145 | | | NC_000009.11:g.139262145G>A | - | | |
NM_052813.5(CARD9):c.1212G>A (p.Ala404=) | 64170 | CARD9 | Likely benign | 574560841 | RCV001465350; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262146 | 139262146 | | | 139262146 | - | | |
NM_052813.5(CARD9):c.1183C>G (p.Leu395Val) | 64170 | CARD9 | Uncertain significance | 747645575 | RCV001309118; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262175 | 139262175 | | | 139262175 | - | | |
NM_052813.5(CARD9):c.1176G>A (p.Ala392=) | 64170 | CARD9 | Likely benign | 142533596 | RCV002079065; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262182 | 139262182 | | | 139262182 | - | | |
NM_052813.5(CARD9):c.1175C>T (p.Ala392Val) | 64170 | CARD9 | Uncertain significance | 567395579 | RCV000339870|RCV002524593; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139262183 | 139262183 | | | NC_000009.11:g.139262183G>A | ClinGen:CA5332802 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.1167C>T (p.Gly389=) | 64170 | CARD9 | Likely benign | 759838683 | RCV001233799; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262191 | 139262191 | | | 9:g.139262191G>A | - | | |
NM_052813.5(CARD9):c.1157G>A (p.Arg386Gln) | 64170 | CARD9 | Uncertain significance | 752913001 | RCV001941008; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262201 | 139262201 | | | 139262201 | - | | |
NM_052813.5(CARD9):c.1153G>C (p.Val385Leu) | 64170 | CARD9 | Benign/Likely benign | 3124993 | RCV000531324|RCV003221960; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139262205 | 139262205 | | | 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 | 3124993 | RCV002092661; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262205 | 139262205 | | | 139262205 | - | | |
NM_052813.5(CARD9):c.1145G>A (p.Arg382His) | 64170 | CARD9 | Uncertain significance | -1 | RCV002584077; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262213 | 139262213 | | | NC_000009.11:g.139262213C>T | - | | |
NM_052813.5(CARD9):c.1144C>T (p.Arg382Cys) | 64170 | CARD9 | Uncertain significance | -1 | RCV003114958; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262214 | 139262214 | | | NC_000009.11:g.139262214G>A | - | | |
NM_052813.5(CARD9):c.1140G>A (p.Ala380=) | 64170 | CARD9 | Likely benign | -1 | RCV002996135; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262218 | 139262218 | | | | - | | |
NM_052813.5(CARD9):c.1138G>A (p.Ala380Thr) | 64170 | CARD9 | Uncertain significance | 139646302 | RCV001933559; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262220 | 139262220 | | | 139262220 | - | | |
NM_052813.5(CARD9):c.1138G>T (p.Ala380Ser) | 64170 | CARD9 | Uncertain significance | -1 | RCV003043634; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262220 | 139262220 | | | NC_000009.11:g.139262220C>A | - | | |
NM_052813.5(CARD9):c.1137C>T (p.Asp379=) | 64170 | CARD9 | Likely benign | 778454812 | RCV002205051; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262221 | 139262221 | | | 139262221 | - | | |
NM_052813.5(CARD9):c.1121G>A (p.Gly374Asp) | 64170 | CARD9 | Uncertain significance | 777420944 | RCV000703613; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262237 | 139262237 | | | NC_000009.11:g.139262237C>T | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro) | 64170 | CARD9 | Uncertain significance | 149712114 | RCV000074439; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262240 | 139262240 | | | 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 | 149712114 | RCV001061631; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262240 | 139262240 | | | 9:g.139262240C>T | - | | |
NM_052813.5(CARD9):c.1117C>T (p.Arg373Trp) | 64170 | CARD9 | Uncertain significance | 759837396 | RCV001950509; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262241 | 139262241 | | | 139262241 | - | | |
NM_052813.5(CARD9):c.1114G>A (p.Ala372Thr) | 64170 | CARD9 | Uncertain significance | 145574224 | RCV000693975; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262244 | 139262244 | | | NC_000009.11:g.139262244C>T | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1105G>A (p.Ala369Thr) | 64170 | CARD9 | Uncertain significance | 141270365 | RCV000824420|RCV002284445; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139262253 | 139262253 | | | 9:g.139262253C>T | - | | |
NM_052813.5(CARD9):c.1104C>T (p.His368=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 145052557 | RCV000298142; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262254 | 139262254 | | | 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 | 145052557 | RCV001233024|RCV002567874; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139262254 | 139262254 | | | 9:g.139262254G>T | - | | |
NM_052813.5(CARD9):c.1096G>A (p.Glu366Lys) | 64170 | CARD9 | Uncertain significance | 146829177 | RCV000552494; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262262 | 139262262 | | | 9:g.139262262C>T | ClinGen:CA201611565 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.1094A>G (p.Glu365Gly) | 64170 | CARD9 | Uncertain significance | 533844645 | RCV001233808|RCV002567888; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139262264 | 139262264 | | | 9:g.139262264T>C | - | | |
NM_052813.5(CARD9):c.1091G>A (p.Arg364Gln) | 64170 | CARD9 | Uncertain significance | 778706578 | RCV001166246; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262267 | 139262267 | | | 9:g.139262267C>T | - | | |
NM_052813.5(CARD9):c.1090C>A (p.Arg364=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 151211588 | RCV000352984; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262268 | 139262268 | | | 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 | 151211588 | RCV000818698; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262268 | 139262268 | | | 9:g.139262268G>A | - | | |
NM_052813.5(CARD9):c.1089G>A (p.Thr363=) | 64170 | CARD9 | Likely benign | 1217807819 | RCV001463069; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262269 | 139262269 | | | 139262269 | - | | |
NM_052813.5(CARD9):c.1085C>T (p.Ala362Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV002651189; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262273 | 139262273 | | | NC_000009.11:g.139262273G>A | - | | |
NM_052813.5(CARD9):c.1081A>G (p.Ile361Val) | 64170 | CARD9 | Uncertain significance | 1338999078 | RCV001212993; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262277 | 139262277 | | | 9:g.139262277T>C | - | | |
NM_052813.5(CARD9):c.1078-1G>A | 64170 | CARD9 | Likely pathogenic | 1272762412 | RCV002015707; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262281 | 139262281 | | | 139262281 | - | | |
NM_052813.5(CARD9):c.1078-5G>A | 64170 | CARD9 | Likely benign | 746317918 | RCV002544405; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262285 | 139262285 | | | 9:g.139262285C>T | - | | |
NM_052813.5(CARD9):c.1078-6C>T | 64170 | CARD9 | Likely benign | 769142671 | RCV001417482; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139262286 | 139262286 | | | 139262286 | - | | |
NM_052813.5(CARD9):c.1077+17G>T | 64170 | CARD9 | Likely benign | -1 | RCV002608885; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264185 | 139264185 | | | NC_000009.11:g.139264185C>A | - | | |
NM_052813.5(CARD9):c.1077+15G>T | 64170 | CARD9 | Likely benign | -1 | RCV002833433; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264187 | 139264187 | | | NC_000009.11:g.139264187C>A | - | | |
NM_052813.5(CARD9):c.1077+11G>A | 64170 | CARD9 | Likely benign | -1 | RCV002786254; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264191 | 139264191 | | | NC_000009.11:g.139264191C>T | - | | |
NM_052813.5(CARD9):c.1077+6C>T | 64170 | CARD9 | Uncertain significance | 2131441696 | RCV002047918; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264196 | 139264196 | | | 139264196 | - | | |
NM_052813.5(CARD9):c.1060G>A (p.Ala354Thr) | 64170 | CARD9 | Uncertain significance | 766983144 | RCV001058380; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264219 | 139264219 | | | 9:g.139264219C>T | - | | |
NM_052813.5(CARD9):c.1059C>T (p.Val353=) | 64170 | CARD9 | Likely benign | 371007197 | RCV002130186; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264220 | 139264220 | | | 139264220 | - | | |
NM_052813.5(CARD9):c.1052AGG[1] (p.Glu352del) | 64170 | CARD9 | Uncertain significance | 2131441744 | RCV002013188; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264222 | 139264224 | | | 139264221 | - | | |
NM_052813.5(CARD9):c.1045C>T (p.Gln349Ter) | 64170 | CARD9 | Pathogenic | 2131441761 | RCV002037820; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264234 | 139264234 | | | 139264234 | - | | |
NM_052813.5(CARD9):c.1031A>G (p.Glu344Gly) | 64170 | CARD9 | Uncertain significance | 748158820 | RCV001209386; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264248 | 139264248 | | | 9:g.139264248T>C | - | | |
NM_052813.5(CARD9):c.1029C>T (p.Ile343=) | 64170 | CARD9 | Likely benign | 966910034 | RCV001481005; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264250 | 139264250 | | | 9:g.139264250G>A | - | | |
NM_052813.5(CARD9):c.1027A>G (p.Ile343Val) | 64170 | CARD9 | Uncertain significance | 2131441804 | RCV001920391; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264252 | 139264252 | | | 139264252 | - | | |
NM_052813.5(CARD9):c.1024C>T (p.Arg342Cys) | 64170 | CARD9 | Uncertain significance | 1286367809 | RCV002012953; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264255 | 139264255 | | | 139264255 | - | | |
NM_052813.5(CARD9):c.1007C>T (p.Ser336Phe) | 64170 | CARD9 | Uncertain significance | 189645633 | RCV000702567; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264272 | 139264272 | | | NC_000009.11:g.139264272G>A | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.998G>A (p.Arg333His) | 64170 | CARD9 | Uncertain significance | 200783121 | RCV001059496|RCV002553863; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139264281 | 139264281 | | | 9:g.139264281C>T | - | | |
NM_052813.5(CARD9):c.992C>T (p.Ala331Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV003030520; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264287 | 139264287 | | | NC_000009.11:g.139264287G>A | - | | |
NM_052813.5(CARD9):c.979C>T (p.Leu327=) | 64170 | CARD9 | Likely benign | 555805929 | RCV002102587; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264300 | 139264300 | | | 139264300 | - | | |
NM_052813.5(CARD9):c.976G>A (p.Glu326Lys) | 64170 | CARD9 | Uncertain significance | 143669690 | RCV000276851; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264303 | 139264303 | | | 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 | 143669690 | RCV000643998|RCV002530014; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139264303 | 139264303 | | | 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 | 769988935 | RCV001453820; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264304 | 139264304 | | | 139264304 | - | | |
NM_052813.5(CARD9):c.964_966del (p.Lys322del) | 64170 | CARD9 | Uncertain significance | -1 | RCV002597207; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264313 | 139264315 | | | NC_000009.11:g.139264315_139264317del | - | | |
NM_052813.5(CARD9):c.960G>A (p.Glu320=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 148158774 | RCV000644005; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264319 | 139264319 | | | 9:g.139264319C>T | ClinGen:CA5332896 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.952-11G>A | 64170 | CARD9 | Likely benign | 747130473 | RCV002183920; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264338 | 139264338 | | | 139264338 | - | | |
NM_052813.5(CARD9):c.952-12C>T | 64170 | CARD9 | Likely benign | 541356831 | RCV002155035; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264339 | 139264339 | | | 139264339 | - | | |
NM_052813.5(CARD9):c.951+20G>A | 64170 | CARD9 | Likely benign | -1 | RCV002647770; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264726 | 139264726 | | | NC_000009.11:g.139264726C>T | - | | |
NM_052813.5(CARD9):c.951+10_951+17del | 64170 | CARD9 | Likely benign | 147386417 | RCV000537540; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264729 | 139264736 | | | 9:g.139264729_139264736del | ClinGen:CA201613730 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.951+15G>A | 64170 | CARD9 | Likely benign | -1 | RCV003081867; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264731 | 139264731 | | | NC_000009.11:g.139264731C>T | - | | |
NM_052813.5(CARD9):c.951+15G>C | 64170 | CARD9 | Likely benign | -1 | RCV003090898; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264731 | 139264731 | | | NC_000009.11:g.139264731C>G | - | | |
NM_052813.5(CARD9):c.951+14C>T | 64170 | CARD9 | Benign/Likely benign | 574158361 | RCV001166766; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264732 | 139264732 | | | 9:g.139264732G>A | - | | |
NM_052813.5(CARD9):c.951+9_951+10del | 64170 | CARD9 | Benign | 754404646 | RCV000644010; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264736 | 139264737 | | | 9:g.139264736_139264737del | ClinGen:CA5332922 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.951+4G>A | 64170 | CARD9 | Likely benign | 757527643 | RCV000547730; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264742 | 139264742 | | | 9:g.139264742C>T | ClinGen:CA5332925 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.944G>T (p.Arg315Leu) | 64170 | CARD9 | Uncertain significance | 141105175 | RCV001360106|RCV002547736; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139264753 | 139264753 | | | 139264753 | - | | |
NM_052813.5(CARD9):c.944G>A (p.Arg315His) | 64170 | CARD9 | Uncertain significance | 141105175 | RCV001918043; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264753 | 139264753 | | | 139264753 | - | | |
NM_052813.5(CARD9):c.943C>T (p.Arg315Cys) | 64170 | CARD9 | Uncertain significance | 778923486 | RCV001965302; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264754 | 139264754 | | | 139264754 | - | | |
NM_052813.5(CARD9):c.941G>A (p.Arg314Gln) | 64170 | CARD9 | Uncertain significance | 747970437 | RCV001351951; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264756 | 139264756 | | | 139264756 | - | | |
NM_052813.5(CARD9):c.925C>T (p.Arg309Cys) | 64170 | CARD9 | Likely benign | 535051926 | RCV001166767; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264772 | 139264772 | | | 9:g.139264772G>A | - | | |
NM_052813.5(CARD9):c.923_925del (p.Leu308del) | 64170 | CARD9 | Uncertain significance | 1833230862 | RCV001057073; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264772 | 139264774 | | | 9:g.139264772_139264774del | - | | |
NM_052813.5(CARD9):c.918G>A (p.Lys306=) | 64170 | CARD9 | Uncertain significance | 1158158279 | RCV001227013; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264779 | 139264779 | | | 9:g.139264779C>T | - | | |
NM_052813.5(CARD9):c.914G>A (p.Arg305His) | 64170 | CARD9 | Uncertain significance | 150234370 | RCV001064665|RCV003343799; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139264783 | 139264783 | | | 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 | 887110867 | RCV001485781; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264800 | 139264800 | | | 139264800 | - | | |
NM_052813.5(CARD9):c.896A>G (p.Asn299Ser) | 64170 | CARD9 | Uncertain significance | 751849304 | RCV001996826; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264801 | 139264801 | | | 139264801 | - | | |
NM_052813.5(CARD9):c.894C>G (p.Ala298=) | 64170 | CARD9 | Likely benign | 757648134 | RCV002117259|RCV003434418; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139264803 | 139264803 | | | 139264803 | - | | |
NM_052813.5(CARD9):c.888G>A (p.Glu296=) | 64170 | CARD9 | Likely benign | -1 | RCV002938831; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264809 | 139264809 | | | | - | | |
NM_052813.5(CARD9):c.886G>A (p.Glu296Lys) | 64170 | CARD9 | Uncertain significance | -1 | RCV002586039; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264811 | 139264811 | | | NC_000009.11:g.139264811C>T | - | | |
NM_052813.5(CARD9):c.883C>T (p.Gln295Ter) | 64170 | CARD9 | Pathogenic | 121918338 | RCV000003575; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264814 | 139264814 | | | 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 | 756275149 | RCV001308123; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264815 | 139264815 | | | 139264815 | - | | |
NM_052813.5(CARD9):c.876G>A (p.Arg292=) | 64170 | CARD9 | Likely benign | -1 | RCV002881237; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264821 | 139264821 | | | | - | | |
NM_052813.5(CARD9):c.875G>T (p.Arg292Leu) | 64170 | CARD9 | Uncertain significance | 143263677 | RCV001304528; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264822 | 139264822 | | | 139264822 | - | | |
NM_052813.5(CARD9):c.874C>T (p.Arg292Trp) | 64170 | CARD9 | Uncertain significance | -1 | RCV002671009; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264823 | 139264823 | | | NC_000009.11:g.139264823G>A | - | | |
NM_052813.5(CARD9):c.871C>T (p.Leu291=) | 64170 | CARD9 | Likely benign | -1 | RCV003050241; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264826 | 139264826 | | | | - | | |
NM_052813.5(CARD9):c.870G>A (p.Ala290=) | 64170 | CARD9 | Benign | 115057256 | RCV000527218; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264827 | 139264827 | | | 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 | 1442047796 | RCV001166768; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264828 | 139264828 | | | 9:g.139264828G>A | - | | |
NM_052813.5(CARD9):c.868G>T (p.Ala290Ser) | 64170 | CARD9 | Uncertain significance | 964199466 | RCV000817741; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264829 | 139264829 | | | 9:g.139264829C>A | - | | |
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter) | 64170 | CARD9 | Pathogenic | 398122363 | RCV000074440; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264832 | 139264832 | | | 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 | 770668488 | RCV001242861; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264835 | 139264835 | | | 9:g.139264835G>A | - | | |
NM_052813.5(CARD9):c.861G>T (p.Trp287Cys) | 64170 | CARD9 | Uncertain significance | 776265820 | RCV000799975; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264836 | 139264836 | | | 9:g.139264836C>A | - | | |
NM_052813.5(CARD9):c.858C>T (p.Asp286=) | 64170 | CARD9 | Likely benign | -1 | RCV003098912; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264839 | 139264839 | | | | - | | |
NM_052813.5(CARD9):c.855G>A (p.Glu285=) | 64170 | CARD9 | Likely benign | 769415504 | RCV002192319; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264842 | 139264842 | | | 139264842 | - | | |
NM_052813.5(CARD9):c.851A>C (p.Glu284Ala) | 64170 | CARD9 | Uncertain significance | 138048592 | RCV000644000|RCV002533265; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139264846 | 139264846 | | | 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 | 1833234296 | RCV001207295; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264850 | 139264850 | | | 9:g.139264850G>C | - | | |
NM_052813.5(CARD9):c.837C>T (p.Tyr279=) | 64170 | CARD9 | Likely benign | 1355148152 | RCV002082702; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264860 | 139264860 | | | 139264860 | - | | |
NM_052813.5(CARD9):c.822C>G (p.Asp274Glu) | 64170 | CARD9 | Uncertain significance | 1433023025 | RCV002036131; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264875 | 139264875 | | | 139264875 | - | | |
NM_052813.5(CARD9):c.820dup (p.Asp274fs) | 64170 | CARD9 | risk factor | 753050033 | RCV002271346; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264876 | 139264877 | | | 139264876 | OMIM:607212.0008 | | |
NM_052813.5(CARD9):c.820G>A (p.Asp274Asn) | 64170 | CARD9 | Uncertain significance | -1 | RCV002671960; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264877 | 139264877 | | | NC_000009.11:g.139264877C>T | - | | |
NM_052813.5(CARD9):c.816G>A (p.Lys272=) | 64170 | CARD9 | Likely benign | 968702841 | RCV002104176; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264881 | 139264881 | | | 139264881 | - | | |
NM_052813.5(CARD9):c.809A>T (p.Glu270Val) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 114895119 | RCV000548526|RCV003430963; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139264888 | 139264888 | | | 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 | 542391727 | RCV001168482; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264897 | 139264897 | | | 9:g.139264897G>A | - | | |
NM_052813.5(CARD9):c.808-9C>A | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 200458322 | RCV000533763; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264898 | 139264898 | | | NC_000009.11:g.139264898G>T | ClinGen:CA5332964 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.808-11G>T | 64170 | CARD9 | Benign | 528166226 | RCV000383225; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264900 | 139264900 | | | NC_000009.11:g.139264900C>A | ClinGen:CA5332966 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.807+12G>A | 64170 | CARD9 | Uncertain significance | -1 | RCV002591970; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264962 | 139264962 | | | NC_000009.11:g.139264962C>T | - | | |
NM_052813.5(CARD9):c.807+10T>G | 64170 | CARD9 | Likely benign | 775012731 | RCV002084679; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264964 | 139264964 | | | 139264964 | - | | |
NM_052813.5(CARD9):c.807+9G>A | 64170 | CARD9 | Likely benign | -1 | RCV003078924; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264965 | 139264965 | | | NC_000009.11:g.139264965C>T | - | | |
NM_052813.5(CARD9):c.807+8C>T | 64170 | CARD9 | Likely benign | 372934669 | RCV000979421; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264966 | 139264966 | | | 9:g.139264966G>A | - | | |
NM_052813.5(CARD9):c.807+7C>T | 64170 | CARD9 | Likely benign | 377757780 | RCV001482368; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264967 | 139264967 | | | 139264967 | - | | |
NM_052813.5(CARD9):c.807+1G>T | 64170 | CARD9 | Likely pathogenic | -1 | RCV002572152; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264973 | 139264973 | | | NC_000009.11:g.139264973C>A | - | | |
NM_052813.5(CARD9):c.802G>A (p.Val268Ile) | 64170 | CARD9 | Uncertain significance | -1 | RCV003058284; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264979 | 139264979 | | | NC_000009.11:g.139264979C>T | - | | |
NM_052813.5(CARD9):c.801C>T (p.Ser267=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 143884319 | RCV000905906; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264980 | 139264980 | | | 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 | 202143480 | RCV002084513; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139264995 | 139264995 | | | 139264995 | - | | |
NM_052813.5(CARD9):c.781G>A (p.Val261Met) | 64170 | CARD9 | Uncertain significance | 1320544361 | RCV002047495; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265000 | 139265000 | | | 139265000 | - | | |
NM_052813.5(CARD9):c.779G>A (p.Arg260Gln) | 64170 | CARD9 | Uncertain significance | 781016718 | RCV000796096; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265002 | 139265002 | | | 9:g.139265002C>T | - | | |
NM_052813.5(CARD9):c.778C>T (p.Arg260Trp) | 64170 | CARD9 | Uncertain significance | 148681933 | RCV001071694; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265003 | 139265003 | | | 9:g.139265003G>A | - | | |
NM_052813.5(CARD9):c.776C>T (p.Ala259Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV003009488; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265005 | 139265005 | | | NC_000009.11:g.139265005G>A | - | | |
NM_052813.5(CARD9):c.766del (p.Leu256fs) | 64170 | CARD9 | Pathogenic | 1833240016 | RCV001037926; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265015 | 139265015 | | | 9:g.139265015_139265015del | - | | |
NM_052813.5(CARD9):c.760_761delinsGC (p.Lys254Ala) | 64170 | CARD9 | Uncertain significance | 1833240171 | RCV001068429; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265020 | 139265021 | | | NC_000009.11:g.139265020_139265021delinsGC | - | | |
NM_052813.5(CARD9):c.757_759del (p.Glu253del) | 64170 | CARD9 | Uncertain significance | -1 | RCV002985400; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265022 | 139265024 | | | NC_000009.11:g.139265024_139265026del | - | | |
NM_052813.5(CARD9):c.757G>C (p.Glu253Gln) | 64170 | CARD9 | Uncertain significance | 748703154 | RCV000703638; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265024 | 139265024 | | | NC_000009.11:g.139265024C>G | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.748C>T (p.Leu250=) | 64170 | CARD9 | Likely benign | 1484042011 | RCV000943040; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265033 | 139265033 | | | 9:g.139265033G>A | - | | |
NM_052813.5(CARD9):c.745G>A (p.Glu249Lys) | 64170 | CARD9 | Uncertain significance | 773804555 | RCV001966274; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265036 | 139265036 | | | 139265036 | - | | |
NM_052813.5(CARD9):c.736C>G (p.Leu246Val) | 64170 | CARD9 | Uncertain significance | 1833240828 | RCV002049226; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265045 | 139265045 | | | 139265045 | - | | |
NM_052813.5(CARD9):c.722G>A (p.Arg241Gln) | 64170 | CARD9 | Uncertain significance | 369657798 | RCV001347946; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265059 | 139265059 | | | 139265059 | - | | |
NM_052813.5(CARD9):c.721C>T (p.Arg241Trp) | 64170 | CARD9 | Uncertain significance | 142221470 | RCV001058174; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265060 | 139265060 | | | 9:g.139265060G>A | - | | |
NM_052813.5(CARD9):c.715G>A (p.Glu239Lys) | 64170 | CARD9 | Uncertain significance | 2131443372 | RCV001909343; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265066 | 139265066 | | | 139265066 | - | | |
NM_052813.5(CARD9):c.712A>G (p.Met238Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV002948871; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265069 | 139265069 | | | NC_000009.11:g.139265069T>C | - | | |
NM_052813.5(CARD9):c.708C>T (p.His236=) | 64170 | CARD9 | Likely benign | 757753324 | RCV002193033; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265073 | 139265073 | | | 139265073 | - | | |
NM_052813.5(CARD9):c.694C>T (p.Leu232=) | 64170 | CARD9 | Likely benign | 373198723 | RCV001504563; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265087 | 139265087 | | | 9:g.139265087G>A | - | | |
NM_052813.5(CARD9):c.693G>A (p.Thr231=) | 64170 | CARD9 | Benign/Likely benign | 59902911 | RCV000559992; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265088 | 139265088 | | | 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 | 1833242172 | RCV001870193; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265094 | 139265094 | | | 139265094 | - | | |
NM_052813.5(CARD9):c.683G>A (p.Arg228His) | 64170 | CARD9 | Uncertain significance | 551482416 | RCV000688329; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265098 | 139265098 | | | NC_000009.11:g.139265098C>T | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.681G>A (p.Glu227=) | 64170 | CARD9 | Likely benign | -1 | RCV003013325; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265100 | 139265100 | | | | - | | |
NM_052813.5(CARD9):c.667G>A (p.Asp223Asn) | 64170 | CARD9 | Uncertain significance | 745942827 | RCV001234255; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265114 | 139265114 | | | 9:g.139265114C>T | - | | |
NM_052813.5(CARD9):c.666C>T (p.Asp222=) | 64170 | CARD9 | Likely benign | 375985866 | RCV002206041; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265115 | 139265115 | | | 139265115 | - | | |
NM_052813.5(CARD9):c.662A>G (p.Glu221Gly) | 64170 | CARD9 | Uncertain significance | -1 | RCV002616158|RCV002616157; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265119 | 139265119 | | | NC_000009.11:g.139265119T>C | - | | |
NM_052813.5(CARD9):c.661G>A (p.Glu221Lys) | 64170 | CARD9 | Benign/Likely benign | 200735402 | RCV001168483; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265120 | 139265120 | | | 9:g.139265120C>T | - | | |
NM_052813.5(CARD9):c.660C>T (p.Ala220=) | 64170 | CARD9 | Likely benign | 372964807 | RCV002097115; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265121 | 139265121 | | | 139265121 | - | | |
NM_052813.5(CARD9):c.660C>G (p.Ala220=) | 64170 | CARD9 | Likely benign | -1 | RCV002671367; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265121 | 139265121 | | | | - | | |
NM_052813.5(CARD9):c.642G>A (p.Lys214=) | 64170 | CARD9 | Likely benign | -1 | RCV002663497; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265139 | 139265139 | | | | - | | |
NM_052813.5(CARD9):c.636G>A (p.Gln212=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 759411705 | RCV001482373; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265145 | 139265145 | | | 139265145 | - | | |
NM_052813.5(CARD9):c.628-4G>A | 64170 | CARD9 | Likely benign | 538579246 | RCV002159727; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265157 | 139265157 | | | 139265157 | - | | |
NM_052813.5(CARD9):c.628-5T>A | 64170 | CARD9 | Uncertain significance | 1833244370 | RCV001168484; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265158 | 139265158 | | | 9:g.139265158A>T | - | | |
NM_052813.5(CARD9):c.628-10C>G | 64170 | CARD9 | Likely benign | 770028236 | RCV001307980; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265163 | 139265163 | | | 139265163 | - | | |
NM_052813.5(CARD9):c.628-15C>A | 64170 | CARD9 | Likely benign | 375692399 | RCV002155683; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265168 | 139265168 | | | 139265168 | - | | |
NM_052813.5(CARD9):c.627+17C>T | 64170 | CARD9 | Likely benign | 190628465 | RCV002088796; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265276 | 139265276 | | | 139265276 | - | | |
NM_052813.5(CARD9):c.627+17C>A | 64170 | CARD9 | Likely benign | -1 | RCV002651250; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265276 | 139265276 | | | NC_000009.11:g.139265276G>T | - | | |
NM_052813.5(CARD9):c.627+11T>C | 64170 | CARD9 | Likely benign | -1 | RCV002814957; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265282 | 139265282 | | | NC_000009.11:g.139265282A>G | - | | |
NM_052813.5(CARD9):c.627+9G>A | 64170 | CARD9 | Likely benign | 531220860 | RCV001415459; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265284 | 139265284 | | | 139265284 | - | | |
NM_052813.5(CARD9):c.627+8C>T | 64170 | CARD9 | Likely benign | 769775448 | RCV002109805; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265285 | 139265285 | | | 139265285 | - | | |
NM_052813.5(CARD9):c.627+5G>A | 64170 | CARD9 | Uncertain significance | 376932110 | RCV001911350; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265288 | 139265288 | | | 139265288 | - | | |
NM_052813.5(CARD9):c.627+4C>T | 64170 | CARD9 | Benign | 181987989 | RCV000967653; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265289 | 139265289 | | | 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 | 756583189 | RCV001923339; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265310 | 139265310 | | | 139265310 | - | | |
NM_052813.5(CARD9):c.603G>T (p.Met201Ile) | 64170 | CARD9 | Uncertain significance | -1 | RCV002810943; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265317 | 139265317 | | | NC_000009.11:g.139265317C>A | - | | |
NM_052813.5(CARD9):c.602T>C (p.Met201Thr) | 64170 | CARD9 | Uncertain significance | 1833249736 | RCV001215538; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265318 | 139265318 | | | 9:g.139265318A>G | - | | |
NM_052813.5(CARD9):c.596C>T (p.Ala199Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV002284660|RCV003097669; | N | MedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265324 | 139265324 | | | 139265324 | - | | |
NM_052813.5(CARD9):c.594C>T (p.Ala198=) | 64170 | CARD9 | Likely benign | 1348702255 | RCV001506654; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265326 | 139265326 | | | 139265326 | - | | |
NM_052813.5(CARD9):c.592G>A (p.Ala198Thr) | 64170 | CARD9 | Uncertain significance | 139295959 | RCV001232252|RCV002563219; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139265328 | 139265328 | | | 9:g.139265328C>T | - | | |
NM_052813.5(CARD9):c.591C>G (p.Gly197=) | 64170 | CARD9 | Likely benign | 774424748 | RCV002109888; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265329 | 139265329 | | | 139265329 | - | | |
NM_052813.5(CARD9):c.591C>T (p.Gly197=) | 64170 | CARD9 | Likely benign | -1 | RCV002578223; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265329 | 139265329 | | | | - | | |
NM_052813.5(CARD9):c.586A>G (p.Lys196Glu) | 64170 | CARD9 | Uncertain significance | 768281299 | RCV001344243; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265334 | 139265334 | | | 139265334 | - | | |
NM_052813.5(CARD9):c.583G>C (p.Glu195Gln) | 64170 | CARD9 | Uncertain significance | 774113192 | RCV001306554; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265337 | 139265337 | | | 139265337 | - | | |
NM_052813.5(CARD9):c.582G>C (p.Glu194Asp) | 64170 | CARD9 | Uncertain significance | 761369989 | RCV000823522; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265338 | 139265338 | | | 9:g.139265338C>G | - | | |
NM_052813.5(CARD9):c.579dup (p.Glu194Ter) | 64170 | CARD9 | Pathogenic | 2131443924 | RCV001962015; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265340 | 139265341 | | | 139265340 | - | | |
NM_052813.5(CARD9):c.578G>A (p.Ser193Asn) | 64170 | CARD9 | Uncertain significance | 144115318 | RCV001231536; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265342 | 139265342 | | | 9:g.139265342C>T | - | | |
NM_052813.5(CARD9):c.575A>G (p.Gln192Arg) | 64170 | CARD9 | Uncertain significance | 749914021 | RCV001064230; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265345 | 139265345 | | | 9:g.139265345T>C | - | | |
NM_052813.5(CARD9):c.575del (p.Gln192fs) | 64170 | CARD9 | Pathogenic | -1 | RCV003037503; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265345 | 139265345 | | | NC_000009.11:g.139265345del | - | | |
NM_052813.5(CARD9):c.574C>G (p.Gln192Glu) | 64170 | CARD9 | Uncertain significance | -1 | RCV002301291; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265346 | 139265346 | | | 139265346 | - | | |
NM_052813.5(CARD9):c.570G>A (p.Ala190=) | 64170 | CARD9 | Likely benign | -1 | RCV002624179; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265350 | 139265350 | | | | - | | |
NM_052813.5(CARD9):c.569C>T (p.Ala190Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV002971465; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265351 | 139265351 | | | NC_000009.11:g.139265351G>A | - | | |
NM_052813.5(CARD9):c.561G>A (p.Met187Ile) | 64170 | CARD9 | Uncertain significance | 2131443970 | RCV001896342; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265359 | 139265359 | | | 139265359 | - | | |
NM_052813.5(CARD9):c.560T>C (p.Met187Thr) | 64170 | CARD9 | Uncertain significance | 1302956100 | RCV000818624; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265360 | 139265360 | | | 9:g.139265360A>G | - | | |
NM_052813.5(CARD9):c.559A>G (p.Met187Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV003055452; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265361 | 139265361 | | | NC_000009.11:g.139265361T>C | - | | |
NM_052813.5(CARD9):c.550G>A (p.Asp184Asn) | 64170 | CARD9 | Uncertain significance | 374298700 | RCV000701826; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265370 | 139265370 | | | 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 | 528585158 | RCV001169216; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265371 | 139265371 | | | 9:g.139265371G>A | - | | |
NM_052813.5(CARD9):c.548A>G (p.Tyr183Cys) | 64170 | CARD9 | Uncertain significance | 747120908 | RCV001169217; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265372 | 139265372 | | | 9:g.139265372T>C | - | | |
NM_052813.5(CARD9):c.539A>G (p.Glu180Gly) | 64170 | CARD9 | Uncertain significance | 1252059533 | RCV001324374; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265381 | 139265381 | | | 139265381 | - | | |
NM_052813.5(CARD9):c.532T>C (p.Cys178Arg) | 64170 | CARD9 | Uncertain significance | 932662849 | RCV001366654; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265388 | 139265388 | | | 139265388 | - | | |
NM_052813.5(CARD9):c.530G>A (p.Arg177His) | 64170 | CARD9 | Uncertain significance | -1 | RCV002958813; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265390 | 139265390 | | | NC_000009.11:g.139265390C>T | - | | |
NM_052813.5(CARD9):c.525C>T (p.Leu175=) | 64170 | CARD9 | Likely benign | 768564945 | RCV001400775; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265395 | 139265395 | | | 139265395 | - | | |
NM_052813.5(CARD9):c.519C>T (p.Arg173=) | 64170 | CARD9 | Uncertain significance | 146808845 | RCV002045317; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265401 | 139265401 | | | 139265401 | - | | |
NM_052813.5(CARD9):c.517C>T (p.Arg173Cys) | 64170 | CARD9 | Uncertain significance | 759264924 | RCV001210897; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265403 | 139265403 | | | 9:g.139265403G>A | - | | |
NM_052813.5(CARD9):c.515G>A (p.Ser172Asn) | 64170 | CARD9 | Uncertain significance | 201802044 | RCV001169218; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265405 | 139265405 | | | 9:g.139265405C>T | - | | |
NM_052813.5(CARD9):c.513C>T (p.Gly171=) | 64170 | CARD9 | Benign/Likely benign | 78538457 | RCV001169219; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265407 | 139265407 | | | 9:g.139265407G>A | - | | |
NM_052813.5(CARD9):c.511G>A (p.Gly171Ser) | 64170 | CARD9 | Uncertain significance | 140508365 | RCV000820949; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265409 | 139265409 | | | 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 | 558145829 | RCV001961154; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265410 | 139265410 | | | 139265410 | - | | |
NM_052813.5(CARD9):c.508G>A (p.Ala170Thr) | 64170 | CARD9 | Likely benign | 112244317 | RCV000644011; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265412 | 139265412 | | | NC_000009.11:g.139265412C>T | ClinGen:CA5333117 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.505G>A (p.Glu169Lys) | 64170 | CARD9 | Uncertain significance | -1 | RCV002903990; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265415 | 139265415 | | | NC_000009.11:g.139265415C>T | - | | |
NM_052813.5(CARD9):c.495G>A (p.Lys165=) | 64170 | CARD9 | Likely benign | 2131444127 | RCV001434750; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265425 | 139265425 | | | 139265425 | - | | |
NM_052813.5(CARD9):c.489G>A (p.Arg163=) | 64170 | CARD9 | Likely benign | 749290461 | RCV002094136; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265431 | 139265431 | | | 139265431 | - | | |
NM_052813.5(CARD9):c.479G>A (p.Arg160His) | 64170 | CARD9 | Uncertain significance | 747925378 | RCV000800304|RCV002534635; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139265441 | 139265441 | | | 9:g.139265441C>T | - | | |
NM_052813.5(CARD9):c.478C>T (p.Arg160Cys) | 64170 | CARD9 | Uncertain significance | 1400756254 | RCV001229377; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265442 | 139265442 | | | 9:g.139265442G>A | - | | |
NM_052813.5(CARD9):c.472C>T (p.Gln158Ter) | 64170 | CARD9 | risk factor | 1342330215 | RCV002271344; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265448 | 139265448 | | | 139265448 | OMIM:607212.0007 | | |
NM_052813.5(CARD9):c.468G>A (p.Lys156=) | 64170 | CARD9 | Likely benign | -1 | RCV002638813; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265452 | 139265452 | | | | - | | |
NM_052813.5(CARD9):c.464G>A (p.Arg155His) | 64170 | CARD9 | Uncertain significance | 145198648 | RCV001952047; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265456 | 139265456 | | | 139265456 | - | | |
NM_052813.5(CARD9):c.463C>T (p.Arg155Cys) | 64170 | CARD9 | Uncertain significance | 199947855 | RCV000545325; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265457 | 139265457 | | | NC_000009.11:g.139265457G>A | ClinGen:CA5333129 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.459G>A (p.Leu153=) | 64170 | CARD9 | Likely benign | -1 | RCV002932501; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265461 | 139265461 | | | | - | | |
NM_052813.5(CARD9):c.455G>A (p.Ser152Asn) | 64170 | CARD9 | Uncertain significance | 539919395 | RCV000809823; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265465 | 139265465 | | | 9:g.139265465C>T | - | | |
NM_052813.5(CARD9):c.451G>A (p.Asp151Asn) | 64170 | CARD9 | Uncertain significance | -1 | RCV002908051; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265469 | 139265469 | | | NC_000009.11:g.139265469C>T | - | | |
NM_052813.5(CARD9):c.443G>A (p.Arg148Gln) | 64170 | CARD9 | Uncertain significance | 757627986 | RCV000823901; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265477 | 139265477 | | | 9:g.139265477C>T | - | | |
NM_052813.5(CARD9):c.442C>T (p.Arg148Trp) | 64170 | CARD9 | Uncertain significance | 149206311 | RCV001910889|RCV002553593; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MeSH:D030342,MedGen:C0950123 | 9 | 139265478 | 139265478 | | | 139265478 | - | | |
NM_052813.5(CARD9):c.438G>A (p.Glu146=) | 64170 | CARD9 | Likely benign | 2131444236 | RCV002195523; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265482 | 139265482 | | | 139265482 | - | | |
NM_052813.5(CARD9):c.436G>C (p.Glu146Gln) | 64170 | CARD9 | Uncertain significance | 1407588129 | RCV001221746; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265484 | 139265484 | | | 9:g.139265484C>G | - | | |
NM_052813.5(CARD9):c.432C>T (p.Ile144=) | 64170 | CARD9 | Likely benign | 1274150394 | RCV000534535; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265488 | 139265488 | | | 9:g.139265488G>A | ClinGen:CA467825883 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.430A>T (p.Ile144Phe) | 64170 | CARD9 | Uncertain significance | 977007616 | RCV002035954; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265490 | 139265490 | | | 139265490 | - | | |
NM_052813.5(CARD9):c.421G>A (p.Asp141Asn) | 64170 | CARD9 | Uncertain significance | 375341696 | RCV001904105; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265499 | 139265499 | | | 139265499 | - | | |
NM_052813.5(CARD9):c.416C>T (p.Ser139Phe) | 64170 | CARD9 | Uncertain significance | -1 | RCV002958908; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265504 | 139265504 | | | NC_000009.11:g.139265504G>A | - | | |
NM_052813.5(CARD9):c.412A>C (p.Ser138Arg) | 64170 | CARD9 | Uncertain significance | 2131444271 | RCV001370805; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265508 | 139265508 | | | 139265508 | - | | |
NM_052813.5(CARD9):c.406C>T (p.Leu136=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 143393026 | RCV000891268; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265514 | 139265514 | | | 9:g.139265514G>A | - | | |
NM_052813.5(CARD9):c.405G>A (p.Ala135=) | 64170 | CARD9 | Likely benign | -1 | RCV002574439; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265515 | 139265515 | | | | - | | |
NM_052813.5(CARD9):c.404C>T (p.Ala135Val) | 64170 | CARD9 | Uncertain significance | -1 | RCV002575032; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265516 | 139265516 | | | NC_000009.11:g.139265516G>A | - | | |
NM_052813.5(CARD9):c.402C>T (p.Thr134=) | 64170 | CARD9 | Likely benign | 1240448399 | RCV001468923; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265518 | 139265518 | | | 139265518 | - | | |
NM_052813.5(CARD9):c.384G>A (p.Lys128=) | 64170 | CARD9 | Likely benign | 777535858 | RCV001414215; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265536 | 139265536 | | | 139265536 | - | | |
NM_052813.5(CARD9):c.372G>A (p.Met124Ile) | 64170 | CARD9 | Uncertain significance | 926038111 | RCV001220036; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265548 | 139265548 | | | 9:g.139265548C>T | - | | |
NM_052813.5(CARD9):c.371T>C (p.Met124Thr) | 64170 | CARD9 | Uncertain significance | 1274878660 | RCV001218958; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265549 | 139265549 | | | 9:g.139265549A>G | - | | |
NM_052813.5(CARD9):c.370A>G (p.Met124Val) | 64170 | CARD9 | Uncertain significance | 2131444353 | RCV001863722; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265550 | 139265550 | | | 139265550 | - | | |
NM_052813.5(CARD9):c.367G>A (p.Val123Ile) | 64170 | CARD9 | Uncertain significance | 780846137 | RCV001222034; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265553 | 139265553 | | | 9:g.139265553C>T | - | | |
NM_052813.5(CARD9):c.363T>C (p.Thr121=) | 64170 | CARD9 | Likely benign | 745377757 | RCV001479366; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265557 | 139265557 | | | 139265557 | - | | |
NM_052813.5(CARD9):c.357G>A (p.Leu119=) | 64170 | CARD9 | Likely benign | 2131444369 | RCV001417687; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265563 | 139265563 | | | 139265563 | - | | |
NM_052813.5(CARD9):c.352C>T (p.Leu118=) | 64170 | CARD9 | Likely benign | 769292662 | RCV002215188; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265568 | 139265568 | | | 139265568 | - | | |
NM_052813.5(CARD9):c.332G>A (p.Gly111Glu) | 64170 | CARD9 | Uncertain significance | 371695061 | RCV001360838; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265588 | 139265588 | | | 139265588 | - | | |
NM_052813.5(CARD9):c.330C>G (p.Ser110=) | 64170 | CARD9 | Likely benign | 375434244 | RCV001478182; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265590 | 139265590 | | | 9:g.139265590G>C | - | | |
NM_052813.5(CARD9):c.330C>T (p.Ser110=) | 64170 | CARD9 | Likely benign | 375434244 | RCV002130392; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265590 | 139265590 | | | 139265590 | - | | |
NM_052813.5(CARD9):c.327G>T (p.Ala109=) | 64170 | CARD9 | Likely benign | 139395199 | RCV000893509; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265593 | 139265593 | | | 9:g.139265593C>A | - | | |
NM_052813.5(CARD9):c.327G>A (p.Ala109=) | 64170 | CARD9 | Likely benign | 139395199 | RCV001428472; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265593 | 139265593 | | | 139265593 | - | | |
NM_052813.5(CARD9):c.326C>T (p.Ala109Val) | 64170 | CARD9 | Uncertain significance | 760681802 | RCV000701249; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265594 | 139265594 | | | 9:g.139265594G>A | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.324C>T (p.Asp108=) | 64170 | CARD9 | Benign/Likely benign | 34971035 | RCV000644006; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265596 | 139265596 | | | 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 | 751375400 | RCV002082264; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265612 | 139265612 | | | 139265612 | - | | |
NM_052813.5(CARD9):c.323-18C>T | 64170 | CARD9 | Likely benign | 2131444449 | RCV002075528; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265615 | 139265615 | | | 139265615 | - | | |
NM_052813.5(CARD9):c.322+20_322+37del | 64170 | CARD9 | Likely benign | 1182137626 | RCV001504022; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265739 | 139265756 | | | 139265738 | - | | |
NM_052813.5(CARD9):c.322+19G>A | 64170 | CARD9 | Likely benign | 750087571 | RCV002174791; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265757 | 139265757 | | | 139265757 | - | | |
NM_052813.5(CARD9):c.322+15A>T | 64170 | CARD9 | Likely benign | -1 | RCV002795502; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265761 | 139265761 | | | NC_000009.11:g.139265761T>A | - | | |
NM_052813.5(CARD9):c.322+10G>A | 64170 | CARD9 | Likely benign | -1 | RCV002994417; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265766 | 139265766 | | | NC_000009.11:g.139265766C>T | - | | |
NM_052813.5(CARD9):c.321C>T (p.Ile107=) | 64170 | CARD9 | Uncertain significance | 201249152 | RCV001166304; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265777 | 139265777 | | | 9:g.139265777G>A | - | | |
NM_052813.5(CARD9):c.313A>G (p.Met105Val) | 64170 | CARD9 | Uncertain significance | 374308759 | RCV001035608; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265785 | 139265785 | | | 9:g.139265785T>C | - | | |
NM_052813.5(CARD9):c.303C>T (p.Arg101=) | 64170 | CARD9 | Likely benign | 773595074 | RCV001480555; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265795 | 139265795 | | | 139265795 | - | | |
NM_052813.5(CARD9):c.302G>A (p.Arg101His) | 64170 | CARD9 | Uncertain significance | -1 | RCV003110399; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265796 | 139265796 | | | NC_000009.11:g.139265796C>T | - | | |
NM_052813.5(CARD9):c.301C>T (p.Arg101Cys) | 64170 | CARD9 | risk factor | 398122364 | RCV000074441; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265797 | 139265797 | | | 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 | 115131813 | RCV000560751; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265801 | 139265801 | | | NC_000009.11:g.139265801C>T | ClinGen:CA5333191 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.296C>T (p.Pro99Leu) | 64170 | CARD9 | Uncertain significance | -1 | RCV002642489; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265802 | 139265802 | | | NC_000009.11:g.139265802G>A | - | | |
NM_052813.5(CARD9):c.295C>A (p.Pro99Thr) | 64170 | CARD9 | Uncertain significance | 1488546054 | RCV001338491; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265803 | 139265803 | | | 139265803 | - | | |
NM_052813.5(CARD9):c.291G>T (p.Lys97Asn) | 64170 | CARD9 | Uncertain significance | -1 | RCV002829337; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265807 | 139265807 | | | NC_000009.11:g.139265807C>A | - | | |
NM_052813.5(CARD9):c.288C>A (p.Gly96=) | 64170 | CARD9 | Benign/Likely benign | 137986801 | RCV000960577|RCV001702440; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN517202 | 9 | 139265810 | 139265810 | | | 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 | 34257731 | RCV001424731; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265813 | 139265813 | | | NC_000009.11:g.139265813T>C | ClinGen:CA5333199 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.273C>G (p.Tyr91Ter) | 64170 | CARD9 | Pathogenic | -1 | RCV002834586; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265825 | 139265825 | | | NC_000009.11:g.139265825G>C | - | | |
NM_052813.5(CARD9):c.271T>C (p.Tyr91His) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 921151054 | RCV000788931|RCV001067651; | N | MedGen:CN517202|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265827 | 139265827 | | | 9:g.139265827A>G | - | | |
NM_052813.5(CARD9):c.257A>G (p.Tyr86Cys) | 64170 | CARD9 | Uncertain significance | 1049019466 | RCV001299098; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265841 | 139265841 | | | 139265841 | - | | |
NM_052813.5(CARD9):c.246C>T (p.Ser82=) | 64170 | CARD9 | Likely benign | 1355957358 | RCV002164438; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265852 | 139265852 | | | 139265852 | - | | |
NM_052813.5(CARD9):c.240C>T (p.Leu80=) | 64170 | CARD9 | Uncertain significance | 778088966 | RCV000390490; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265858 | 139265858 | | | NC_000009.11:g.139265858G>A | ClinGen:CA5333207 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.237C>T (p.Phe79=) | 64170 | CARD9 | Likely benign | -1 | RCV003109051; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265861 | 139265861 | | | | - | | |
NM_052813.5(CARD9):c.228C>T (p.Tyr76=) | 64170 | CARD9 | Benign | 11145769 | RCV000298446; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265870 | 139265870 | | | 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 | 1437385436 | RCV000807082; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265875 | 139265875 | | | 9:g.139265875C>T | - | | |
NM_052813.5(CARD9):c.216C>T (p.Gly72=) | 64170 | CARD9 | Likely benign | -1 | RCV002705204; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265882 | 139265882 | | | | - | | |
NM_052813.5(CARD9):c.214G>A (p.Gly72Ser) | 64170 | CARD9 | Uncertain significance | 398122362 | RCV000074438; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265884 | 139265884 | | | 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 | 398122362 | RCV000700097; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265884 | 139265884 | | | 9:g.139265884C>A | - | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.213C>T (p.Thr71=) | 64170 | CARD9 | Likely benign | 568874711 | RCV001447916; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265885 | 139265885 | | | 139265885 | - | | |
NM_052813.5(CARD9):c.209G>A (p.Arg70Gln) | 64170 | CARD9 | Uncertain significance | 376793464 | RCV001352219; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265889 | 139265889 | | | 139265889 | - | | |
NM_052813.5(CARD9):c.188_191dup (p.Leu65fs) | 64170 | CARD9 | risk factor | 768308018 | RCV002271343; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265906 | 139265907 | | | 139265906 | OMIM:607212.0006 | | |
NM_052813.5(CARD9):c.185-4G>A | 64170 | CARD9 | Likely benign | 536158625 | RCV000644017; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265917 | 139265917 | | | 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 | 760533705 | RCV001436350; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265918 | 139265918 | | | 9:g.139265918G>A | - | | |
NM_052813.5(CARD9):c.185-7C>T | 64170 | CARD9 | Likely benign | 1304126992 | RCV001994071; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265920 | 139265920 | | | 139265920 | - | | |
NM_052813.5(CARD9):c.185-11C>T | 64170 | CARD9 | Likely benign | 1833271868 | RCV002154450; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265924 | 139265924 | | | 139265924 | - | | |
NM_052813.5(CARD9):c.185-13C>T | 64170 | CARD9 | Likely benign | 1238456898 | RCV002096956; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265926 | 139265926 | | | 139265926 | - | | |
NM_052813.5(CARD9):c.185-16C>T | 64170 | CARD9 | Likely benign | -1 | RCV003110428; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139265929 | 139265929 | | | NC_000009.11:g.139265929G>A | - | | |
NM_052813.5(CARD9):c.184+18G>A | 64170 | CARD9 | Likely benign | -1 | RCV002632956; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266329 | 139266329 | | | NC_000009.11:g.139266329C>T | - | | |
NM_052813.5(CARD9):c.184+17G>A | 64170 | CARD9 | Likely benign | 369940203 | RCV002050213; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266330 | 139266330 | | | 139266330 | - | | |
NM_052813.5(CARD9):c.184+16C>T | 64170 | CARD9 | Likely benign | 371562408 | RCV002151474; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266331 | 139266331 | | | 139266331 | - | | |
NM_052813.5(CARD9):c.184+15dup | 64170 | CARD9 | Likely benign | 1833284343 | RCV002135584; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266331 | 139266332 | | | 139266331 | - | | |
NM_052813.5(CARD9):c.184+15G>A | 64170 | CARD9 | Likely benign | 770526507 | RCV002116218; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266332 | 139266332 | | | 139266332 | - | | |
NM_052813.5(CARD9):c.184+14C>T | 64170 | CARD9 | Likely benign | -1 | RCV002717352; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266333 | 139266333 | | | NC_000009.11:g.139266333G>A | - | | |
NM_052813.5(CARD9):c.170G>A (p.Arg57His) | 64170 | CARD9 | Uncertain significance | 940550122 | RCV001064701; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266361 | 139266361 | | | 9:g.139266361C>T | - | | |
NM_052813.5(CARD9):c.158A>G (p.Asn53Ser) | 64170 | CARD9 | Uncertain significance | 377708969 | RCV002025599; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266373 | 139266373 | | | 139266373 | - | | |
NM_052813.5(CARD9):c.156C>A (p.Pro52=) | 64170 | CARD9 | Likely benign | 926803855 | RCV001447954; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266375 | 139266375 | | | 9:g.139266375G>T | - | | |
NM_052813.5(CARD9):c.150C>T (p.Ser50=) | 64170 | CARD9 | Likely benign | 149255047 | RCV002085957; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266381 | 139266381 | | | 139266381 | - | | |
NM_052813.5(CARD9):c.135G>A (p.Glu45=) | 64170 | CARD9 | Likely benign | 939496261 | RCV002211659; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266396 | 139266396 | | | 139266396 | - | | |
NM_052813.5(CARD9):c.129T>C (p.Asp43=) | 64170 | CARD9 | Likely benign | 757743370 | RCV001446308; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266402 | 139266402 | | | 139266402 | - | | |
NM_052813.5(CARD9):c.126C>T (p.Pro42=) | 64170 | CARD9 | Benign | 10781499 | RCV000351119|RCV000455755; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:CN169374 | 9 | 139266405 | 139266405 | | | NC_000009.11:g.139266405G>A | ClinGen:CA5333246 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.106C>T (p.Gln36Ter) | 64170 | CARD9 | Pathogenic | -1 | RCV002816643; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266425 | 139266425 | | | NC_000009.11:g.139266425G>A | - | | |
NM_052813.5(CARD9):c.96T>C (p.Pro32=) | 64170 | CARD9 | Likely benign | 2131445611 | RCV002130165; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266435 | 139266435 | | | 139266435 | - | | |
NM_052813.5(CARD9):c.86G>A (p.Arg29His) | 64170 | CARD9 | Uncertain significance | 201587695 | RCV001216268|RCV003317454; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139266445 | 139266445 | | | 9:g.139266445C>T | - | | |
NM_052813.5(CARD9):c.85C>T (p.Arg29Cys) | 64170 | CARD9 | Uncertain significance | -1 | RCV002780927; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266446 | 139266446 | | | NC_000009.11:g.139266446G>A | - | | |
NM_052813.5(CARD9):c.80C>T (p.Pro27Leu) | 64170 | CARD9 | Uncertain significance | -1 | RCV002903980; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266451 | 139266451 | | | NC_000009.11:g.139266451G>A | - | | |
NM_052813.5(CARD9):c.78C>T (p.Asp26=) | 64170 | CARD9 | Likely benign | 1054511423 | RCV002112069; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266453 | 139266453 | | | 139266453 | - | | |
NM_052813.5(CARD9):c.75C>T (p.Ile25=) | 64170 | CARD9 | Likely benign | 139436668 | RCV001471029; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266456 | 139266456 | | | 139266456 | - | | |
NM_052813.5(CARD9):c.75C>G (p.Ile25Met) | 64170 | CARD9 | Uncertain significance | 139436668 | RCV002008931; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266456 | 139266456 | | | 139266456 | - | | |
NM_052813.5(CARD9):c.68C>T (p.Ser23Leu) | 64170 | CARD9 | Uncertain significance | 775267971 | RCV000644001; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266463 | 139266463 | | | NC_000009.11:g.139266463G>A | ClinGen:CA5333258 | C1859353 212050 Candidiasis, familial, 2; | |
NM_052813.5(CARD9):c.68C>A (p.Ser23Ter) | 64170 | CARD9 | risk factor | 775267971 | RCV002271345; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266463 | 139266463 | | | 139266463 | OMIM:607212.0009 | | |
NM_052813.5(CARD9):c.60G>A (p.Thr20=) | 64170 | CARD9 | Likely benign | -1 | RCV002622427; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266471 | 139266471 | | | | - | | |
NM_052813.5(CARD9):c.59C>T (p.Thr20Met) | 64170 | CARD9 | Uncertain significance | 763713013 | RCV001350890; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266472 | 139266472 | | | 139266472 | - | | |
NM_052813.5(CARD9):c.54G>A (p.Arg18=) | 64170 | CARD9 | Likely benign | 761273064 | RCV001502354; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266477 | 139266477 | | | 9:g.139266477C>T | - | | |
NM_052813.5(CARD9):c.50T>C (p.Phe17Ser) | 64170 | CARD9 | Uncertain significance | 1833288953 | RCV001059439; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266481 | 139266481 | | | 9:g.139266481A>G | - | | |
NM_052813.5(CARD9):c.37G>A (p.Val13Ile) | 64170 | CARD9 | Uncertain significance | 377431254 | RCV001987528; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266494 | 139266494 | | | 139266494 | - | | |
NM_052813.5(CARD9):c.36C>T (p.Ser12=) | 64170 | CARD9 | Likely benign | -1 | RCV002639236; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266495 | 139266495 | | | | - | | |
NM_052813.5(CARD9):c.35G>A (p.Ser12Asn) | 64170 | CARD9 | Benign | 4077515 | RCV000454561|RCV000408113; | N | MedGen:CN169374|MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266496 | 139266496 | | | 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 | 369865691 | RCV000824334; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266506 | 139266506 | | | 9:g.139266506C>T | - | | |
NM_052813.5(CARD9):c.24C>T (p.Asp8=) | 64170 | CARD9 | Benign | 148523221 | RCV000959859; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266507 | 139266507 | | | 9:g.139266507G>A | - | | |
NM_052813.5(CARD9):c.19G>A (p.Asp7Asn) | 64170 | CARD9 | Uncertain significance | 374091388 | RCV000311218; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266512 | 139266512 | | | 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 | 758482293 | RCV002171788; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266513 | 139266513 | | | 139266513 | - | | |
NM_052813.5(CARD9):c.13G>A (p.Glu5Lys) | 64170 | CARD9 | Uncertain significance | 371061371 | RCV001326189; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266518 | 139266518 | | | 139266518 | - | | |
NM_052813.5(CARD9):c.12C>T (p.Tyr4=) | 64170 | CARD9 | Conflicting interpretations of pathogenicity | 35051231 | RCV000644012|RCV001702361; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088|MedGen:C3661900 | 9 | 139266519 | 139266519 | | | 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 | 775128842 | RCV001035607; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266521 | 139266521 | | | 9:g.139266521A>G | - | | |
NM_052813.5(CARD9):c.5C>T (p.Ser2Leu) | 64170 | CARD9 | Uncertain significance | -1 | RCV002795045; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139266526 | 139266526 | | | NC_000009.11:g.139266526G>A | - | | |
NM_052813.5(CARD9):c.-24A>C | 64170 | CARD9 | Benign | 73565169 | RCV000271466; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139267991 | 139267991 | | | NC_000009.11:g.139267991T>G | ClinGen:CA10632999 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.-73C>T | 64170 | CARD9 | Uncertain significance | 916468137 | RCV001166818; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139268040 | 139268040 | | | 9:g.139268040G>A | - | | |
NM_052813.5(CARD9):c.-82C>G | 64170 | CARD9 | Likely benign | 78291627 | RCV000310178; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139268049 | 139268049 | | | NC_000009.11:g.139268049G>C | ClinGen:CA10629583 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.-113C>T | 64170 | CARD9 | Uncertain significance | 3812557 | RCV001166819; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139268080 | 139268080 | | | 9:g.139268080G>A | - | | |
NM_052813.5(CARD9):c.-119C>G | 64170 | CARD9 | Uncertain significance | 190979325 | RCV000362231; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139268086 | 139268086 | | | NC_000009.11:g.139268086G>C | ClinGen:CA10633000 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.-126C>A | 64170 | CARD9 | Uncertain significance | 575640702 | RCV000269944; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139268093 | 139268093 | | | NC_000009.11:g.139268093G>T | ClinGen:CA10629585 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.5(CARD9):c.-139G>A | 64170 | CARD9 | Uncertain significance | 886063707 | RCV000322586; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139268106 | 139268106 | | | NC_000009.11:g.139268106C>T | ClinGen:CA10626886 | CN239217 Familial Candidiasis, Recessive; | |
NM_052813.4(CARD9):c.-166G>A | 64170 | CARD9 | Uncertain significance | 1239477335 | RCV001168533; | N | MONDO:MONDO:0008905,MedGen:C1859353,OMIM:212050, Orphanet:457088 | 9 | 139268133 | 139268133 | | | 9:g.139268133C>T | - | | |