Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_005060.4(RORC):c.1545G>T (p.Gly515=) | 6097 | RORC | Uncertain significance | rs199723679 | RCV000800954; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151779960 | 151779960 | C | A | 1:g.151779960C>A | - | | |
NM_005060.4(RORC):c.1535C>G (p.Ser512Ter) | 6097 | RORC | Uncertain significance | rs1420634082 | RCV001329360; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151779970 | 151779970 | G | C | 151779970 | - | | |
NM_005060.4(RORC):c.1530C>T (p.Thr510=) | 6097 | RORC | Benign | -1 | RCV001522938; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151779975 | 151779975 | G | A | 151779975 | - | | |
NM_005060.4(RORC):c.1512G>A (p.Glu504=) | 6097 | RORC | Likely benign | -1 | RCV001495958; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151779993 | 151779993 | C | T | 151779993 | - | | |
NM_005060.4(RORC):c.1490C>T (p.Ala497Val) | 6097 | RORC | Uncertain significance | rs754827467 | RCV001037724; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780015 | 151780015 | G | A | 1:g.151780015G>A | - | | |
NM_005060.4(RORC):c.1488C>T (p.Ala496=) | 6097 | RORC | Likely benign | rs781238253 | RCV000920792|RCV002065958; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780017 | 151780017 | G | A | 1:g.151780017G>A | - | | |
NM_005060.4(RORC):c.1488C>A (p.Ala496=) | 6097 | RORC | Uncertain significance | rs781238253 | RCV001342714; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780017 | 151780017 | G | T | 151780017 | - | | |
NM_005060.4(RORC):c.1485A>G (p.Gln495=) | 6097 | RORC | Uncertain significance | -1 | RCV001910735; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780020 | 151780020 | T | C | 151780020 | - | | |
NM_005060.4(RORC):c.1477G>A (p.Val493Met) | 6097 | RORC | Uncertain significance | rs138308209 | RCV000238770|RCV001324956; | N | MedGen:CN169374|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780028 | 151780028 | C | T | NC_000001.10:g.151780028C>T | ClinGen:CA1095644 | CN169374 not specified; | |
NM_005060.4(RORC):c.1468C>T (p.His490Tyr) | 6097 | RORC | Uncertain significance | rs1323586530 | RCV001320181; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780037 | 151780037 | G | A | 151780037 | - | | |
NM_005060.4(RORC):c.1456T>A (p.Phe486Ile) | 6097 | RORC | Uncertain significance | rs1572032352 | RCV000793258; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780049 | 151780049 | A | T | 1:g.151780049A>T | - | | |
NM_005060.4(RORC):c.1447C>G (p.Leu483Val) | 6097 | RORC | Uncertain significance | -1 | RCV001981405; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780058 | 151780058 | G | C | 151780058 | - | | |
NM_005060.4(RORC):c.1427G>C (p.Cys476Ser) | 6097 | RORC | Uncertain significance | rs369382764 | RCV001307197; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780078 | 151780078 | C | G | 151780078 | - | | |
NM_005060.4(RORC):c.1407G>C (p.Lys469Asn) | 6097 | RORC | Uncertain significance | -1 | RCV002048024; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780098 | 151780098 | C | G | 151780098 | - | | |
NM_005060.4(RORC):c.1406A>G (p.Lys469Arg) | 6097 | RORC | Benign | rs200531029 | RCV000884930; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780099 | 151780099 | T | C | 1:g.151780099T>C | - | | |
NM_005060.4(RORC):c.1404C>G (p.Pro468=) | 6097 | RORC | Likely benign | -1 | RCV002098181; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780101 | 151780101 | G | C | 151780101 | - | | |
NM_005060.4(RORC):c.1401A>C (p.Pro467=) | 6097 | RORC | Likely benign | -1 | RCV001414151; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780104 | 151780104 | T | G | 151780104 | - | | |
NM_005060.4(RORC):c.1396-4C>G | 6097 | RORC | Likely benign | -1 | RCV002137521; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780113 | 151780113 | G | C | 151780113 | - | | |
NM_005060.4(RORC):c.1396-8A>G | 6097 | RORC | Likely benign | -1 | RCV002099240; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151780117 | 151780117 | T | C | 151780117 | - | | |
NM_005060.4(RORC):c.1395+17G>A | 6097 | RORC | Likely benign | -1 | RCV001968525; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783784 | 151783784 | C | T | 151783784 | - | | |
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly) | 6097 | RORC | Benign | rs113195254 | RCV000958487|RCV001726389|RCV001702864; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857|MedGen:CN169374|MedGen:CN517202 | 1 | 151783805 | 151783805 | G | C | 1:g.151783805G>C | - | | |
NM_005060.4(RORC):c.1391C>T (p.Ala464Val) | 6097 | RORC | Uncertain significance | rs113195254 | RCV001051336; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783805 | 151783805 | G | A | 1:g.151783805G>A | - | | |
NM_005060.4(RORC):c.1358A>T (p.His453Leu) | 6097 | RORC | Uncertain significance | rs200283675 | RCV001035431; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783838 | 151783838 | T | A | 1:g.151783838T>A | - | | |
NM_005060.4(RORC):c.1356T>A (p.His452Gln) | 6097 | RORC | Uncertain significance | rs200854121 | RCV001060896; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783840 | 151783840 | A | T | 1:g.151783840A>T | - | | |
NM_005060.4(RORC):c.1334A>G (p.Asn445Ser) | 6097 | RORC | Likely benign | rs200556721 | RCV000915579; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783862 | 151783862 | T | C | 1:g.151783862T>C | - | | |
NM_005060.4(RORC):c.1329G>A (p.Gln443=) | 6097 | RORC | Likely benign | rs144826157 | RCV000896479|RCV001412184; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783867 | 151783867 | C | T | 1:g.151783867C>T | - | | |
NM_005060.4(RORC):c.1328A>C (p.Gln443Pro) | 6097 | RORC | Uncertain significance | rs911262602 | RCV000821977; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783868 | 151783868 | T | G | 1:g.151783868T>G | - | | |
NM_005060.4(RORC):c.1321C>T (p.Gln441Ter) | 6097 | RORC | Pathogenic | rs863225092 | RCV000201397; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783875 | 151783875 | G | A | 1:g.151783875G>A | ClinGen:CA279248,OMIM:602943.0003 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.1304A>G (p.Glu435Gly) | 6097 | RORC | Uncertain significance | rs148168558 | RCV001205492; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783892 | 151783892 | T | C | 1:g.151783892T>C | - | | |
NM_005060.4(RORC):c.1288C>T (p.Arg430Trp) | 6097 | RORC | Uncertain significance | -1 | RCV001370015; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783908 | 151783908 | G | A | 151783908 | - | | |
NM_005060.4(RORC):c.1286-10C>T | 6097 | RORC | Likely benign | rs769733906 | RCV000977148|RCV001429250; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783920 | 151783920 | G | A | 1:g.151783920G>A | - | | |
NM_005060.4(RORC):c.1286-10C>G | 6097 | RORC | Likely benign | -1 | RCV002102189; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783920 | 151783920 | G | C | 151783920 | - | | |
NM_005060.4(RORC):c.1286-11C>T | 6097 | RORC | Likely benign | -1 | RCV002104538; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151783921 | 151783921 | G | A | 151783921 | - | | |
NM_005060.4(RORC):c.1285+8T>A | 6097 | RORC | Likely benign | -1 | RCV002190531; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785415 | 151785415 | A | T | 151785415 | - | | |
NM_005060.4(RORC):c.1285C>T (p.His429Tyr) | 6097 | RORC | Uncertain significance | rs202038919 | RCV000812904; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785423 | 151785423 | G | A | 1:g.151785423G>A | - | | |
NM_005060.4(RORC):c.1284C>A (p.Ala428=) | 6097 | RORC | Uncertain significance | rs147363563 | RCV000808617; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785424 | 151785424 | G | T | 1:g.151785424G>T | - | | |
NM_005060.4(RORC):c.1267C>G (p.Leu423Val) | 6097 | RORC | Uncertain significance | -1 | RCV001895420; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785441 | 151785441 | G | C | 151785441 | - | | |
NM_005060.4(RORC):c.1250T>C (p.Ile417Thr) | 6097 | RORC | Uncertain significance | -1 | RCV001880379; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785458 | 151785458 | A | G | 151785458 | - | | |
NM_005060.4(RORC):c.1247A>G (p.Glu416Gly) | 6097 | RORC | Uncertain significance | rs200523716 | RCV000652789; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785461 | 151785461 | T | C | 1:g.151785461T>C | ClinGen:CA30493011 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.1239C>T (p.Ser413=) | 6097 | RORC | Likely benign | rs749314860 | RCV000914763; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785469 | 151785469 | G | A | 1:g.151785469G>A | - | | |
NM_005060.4(RORC):c.1227C>G (p.Ala409=) | 6097 | RORC | Likely benign | -1 | RCV002086508; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785481 | 151785481 | G | C | 151785481 | - | | |
NM_005060.4(RORC):c.1198A>G (p.Ile400Val) | 6097 | RORC | Uncertain significance | -1 | RCV001906693; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785510 | 151785510 | T | C | 151785510 | - | | |
NM_005060.4(RORC):c.1185G>A (p.Glu395=) | 6097 | RORC | Likely benign | -1 | RCV002133660; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785523 | 151785523 | C | T | 151785523 | - | | |
NM_005060.4(RORC):c.1175-5A>T | 6097 | RORC | Likely benign | -1 | RCV002169472; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785538 | 151785538 | T | A | 151785538 | - | | |
NM_005060.4(RORC):c.1174+15G>A | 6097 | RORC | Likely benign | -1 | RCV002132599; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785700 | 151785700 | C | T | 151785700 | - | | |
NM_005060.4(RORC):c.1142A>T (p.Lys381Ile) | 6097 | RORC | Uncertain significance | rs1651610525 | RCV001239159; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785747 | 151785747 | T | A | 1:g.151785747T>A | - | | |
NM_005060.4(RORC):c.1125G>A (p.Thr375=) | 6097 | RORC | Likely benign | rs201953038 | RCV000652791; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785764 | 151785764 | C | T | 1:g.151785764C>T | ClinGen:CA1095746 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.1125G>T (p.Thr375=) | 6097 | RORC | Likely benign | -1 | RCV001502032; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785764 | 151785764 | C | A | 151785764 | - | | |
NM_005060.4(RORC):c.1124C>T (p.Thr375Met) | 6097 | RORC | Uncertain significance | -1 | RCV001872701; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785765 | 151785765 | G | A | 151785765 | - | | |
NM_005060.4(RORC):c.1121G>A (p.Arg374His) | 6097 | RORC | Uncertain significance | -1 | RCV001929241; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785768 | 151785768 | C | T | 151785768 | - | | |
NM_005060.4(RORC):c.1118A>G (p.Asn373Ser) | 6097 | RORC | Uncertain significance | rs201629608 | RCV001071141; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785771 | 151785771 | T | C | 1:g.151785771T>C | - | | |
NM_005060.4(RORC):c.1101G>A (p.Arg367=) | 6097 | RORC | Likely benign | -1 | RCV001418519; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785788 | 151785788 | C | T | 151785788 | - | | |
NM_005060.4(RORC):c.1099C>G (p.Arg367Gly) | 6097 | RORC | Uncertain significance | rs1572036408 | RCV000803819; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785790 | 151785790 | G | C | 1:g.151785790G>C | - | | |
NM_005060.4(RORC):c.1089T>C (p.Val363=) | 6097 | RORC | Benign | -1 | RCV001516586; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785800 | 151785800 | A | G | 151785800 | - | | |
NM_005060.4(RORC):c.1086G>C (p.Leu362=) | 6097 | RORC | Likely benign | rs369002008 | RCV000926538|RCV001398427; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785803 | 151785803 | C | G | 1:g.151785803C>G | - | | |
NM_005060.4(RORC):c.1070C>T (p.Ala357Val) | 6097 | RORC | Likely benign | rs139551639 | RCV000652787; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785819 | 151785819 | G | A | 1:g.151785819G>A | ClinGen:CA1095758 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.1067-4C>A | 6097 | RORC | Benign | rs199838177 | RCV000918166; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785826 | 151785826 | G | T | 1:g.151785826G>T | - | | |
NM_005060.4(RORC):c.1067-13C>T | 6097 | RORC | Likely benign | -1 | RCV002102328; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785835 | 151785835 | G | A | 151785835 | - | | |
NM_005060.4(RORC):c.1062A>G (p.Lys354=) | 6097 | RORC | Uncertain significance | -1 | RCV001908650; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151785968 | 151785968 | T | C | 151785968 | - | | |
NM_005060.4(RORC):c.1014C>T (p.Leu338=) | 6097 | RORC | Likely benign | -1 | RCV001464709; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786016 | 151786016 | G | A | 151786016 | - | | |
NM_005060.4(RORC):c.1003G>T (p.Ala335Ser) | 6097 | RORC | Uncertain significance | rs1651625342 | RCV001036223; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786027 | 151786027 | C | A | 1:g.151786027C>A | - | | |
NM_005060.4(RORC):c.1002C>T (p.Phe334=) | 6097 | RORC | Likely benign | -1 | RCV002100746; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786028 | 151786028 | G | A | 151786028 | - | | |
NM_005060.4(RORC):c.992T>C (p.Val331Ala) | 6097 | RORC | Uncertain significance | -1 | RCV001929134; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786038 | 151786038 | A | G | 151786038 | - | | |
NM_005060.4(RORC):c.990C>T (p.Tyr330=) | 6097 | RORC | Benign | rs61754474 | RCV000652792|RCV001703228; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857|MedGen:CN517202 | 1 | 151786040 | 151786040 | G | A | NC_000001.10:g.151786040G>A | ClinGen:CA1095777 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.987G>A (p.Gln329=) | 6097 | RORC | Likely benign | rs1572036625 | RCV000928396|RCV001416697; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786043 | 151786043 | C | T | 1:g.151786043C>T | - | | |
NM_005060.4(RORC):c.985C>T (p.Gln329Ter) | 6097 | RORC | Pathogenic | rs863225091 | RCV000201359; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786045 | 151786045 | G | A | 1:g.151786045G>A | ClinGen:CA279219,OMIM:602943.0002 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.975C>T (p.Thr325=) | 6097 | RORC | Likely benign | -1 | RCV002191223; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786055 | 151786055 | G | A | 151786055 | - | | |
NM_005060.4(RORC):c.960T>C (p.Cys320=) | 6097 | RORC | Benign | -1 | RCV001518527; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786070 | 151786070 | A | G | 151786070 | - | | |
NM_005060.4(RORC):c.955C>A (p.Arg319=) | 6097 | RORC | Likely benign | -1 | RCV001464761; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786075 | 151786075 | G | T | 151786075 | - | | |
NM_005060.4(RORC):c.934-1G>A | 6097 | RORC | Likely pathogenic | -1 | RCV001379824; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151786097 | 151786097 | C | T | 151786097 | - | | |
NM_005060.4(RORC):c.933+13G>A | 6097 | RORC | Likely benign | -1 | RCV002125240; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787037 | 151787037 | C | T | 151787037 | - | | |
NM_005060.4(RORC):c.931A>C (p.Lys311Gln) | 6097 | RORC | Uncertain significance | rs1651672789 | RCV001197549; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787052 | 151787052 | T | G | 1:g.151787052T>G | - | | |
NM_005060.4(RORC):c.905G>A (p.Arg302Gln) | 6097 | RORC | Uncertain significance | rs758239791 | RCV001307723; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787078 | 151787078 | C | T | 151787078 | - | | |
NM_005060.4(RORC):c.888C>T (p.Arg296=) | 6097 | RORC | Likely benign | rs200455794 | RCV000939034; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787095 | 151787095 | G | A | 1:g.151787095G>A | - | | |
NM_005060.4(RORC):c.880C>T (p.Arg294Trp) | 6097 | RORC | Uncertain significance | rs749576267 | RCV001298892; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787103 | 151787103 | G | A | 151787103 | - | | |
NM_005060.4(RORC):c.864G>A (p.Arg288=) | 6097 | RORC | Likely benign | -1 | RCV001465778; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787119 | 151787119 | C | T | 151787119 | - | | |
NM_005060.4(RORC):c.863G>A (p.Arg288Gln) | 6097 | RORC | Uncertain significance | -1 | RCV002042786; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787120 | 151787120 | C | T | 151787120 | - | | |
NM_005060.4(RORC):c.858G>T (p.Gln286His) | 6097 | RORC | Uncertain significance | -1 | RCV001960185; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787125 | 151787125 | C | A | 151787125 | - | | |
NM_005060.4(RORC):c.858G>A (p.Gln286=) | 6097 | RORC | Likely benign | -1 | RCV002162516; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787125 | 151787125 | C | T | 151787125 | - | | |
NM_005060.4(RORC):c.852A>T (p.Thr284=) | 6097 | RORC | Likely benign | -1 | RCV001394609; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787131 | 151787131 | T | A | 151787131 | - | | |
NM_005060.4(RORC):c.843C>T (p.Tyr281=) | 6097 | RORC | Likely benign | -1 | RCV002076926; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787140 | 151787140 | G | A | 151787140 | - | | |
NM_005060.4(RORC):c.829G>A (p.Val277Ile) | 6097 | RORC | Uncertain significance | -1 | RCV001952843; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787154 | 151787154 | C | T | 151787154 | - | | |
NM_005060.4(RORC):c.828C>T (p.Ser276=) | 6097 | RORC | Likely benign | rs150459022 | RCV000923795|RCV001405990; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787155 | 151787155 | G | A | 1:g.151787155G>A | - | | |
NM_005060.4(RORC):c.812-8G>A | 6097 | RORC | Uncertain significance | -1 | RCV001971945; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787179 | 151787179 | C | T | 151787179 | - | | |
NM_005060.4(RORC):c.812-9C>T | 6097 | RORC | Benign | -1 | RCV001513975; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787180 | 151787180 | G | A | 151787180 | - | | |
NM_005060.4(RORC):c.811+9C>G | 6097 | RORC | Uncertain significance | -1 | RCV001872614; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787380 | 151787380 | G | C | 151787380 | - | | |
NM_005060.4(RORC):c.780G>A (p.Pro260=) | 6097 | RORC | Likely benign | -1 | RCV001461842; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787420 | 151787420 | C | T | 151787420 | - | | |
NM_005060.4(RORC):c.779C>T (p.Pro260Leu) | 6097 | RORC | Uncertain significance | -1 | RCV001915232; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787421 | 151787421 | G | A | 151787421 | - | | |
NM_005060.4(RORC):c.770G>A (p.Arg257His) | 6097 | RORC | Uncertain significance | -1 | RCV001367080; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787430 | 151787430 | C | T | 151787430 | - | | |
NM_005060.4(RORC):c.754G>A (p.Gly252Ser) | 6097 | RORC | Uncertain significance | rs200227947 | RCV000819503; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787446 | 151787446 | C | T | 1:g.151787446C>T | - | | |
NM_005060.4(RORC):c.749G>A (p.Ser250Asn) | 6097 | RORC | Likely benign | rs41263732 | RCV000529290; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787451 | 151787451 | C | T | 1:g.151787451C>T | ClinGen:CA1095865 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.737A>C (p.Gln246Pro) | 6097 | RORC | Uncertain significance | rs199793998 | RCV001056447; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787463 | 151787463 | T | G | 1:g.151787463T>G | - | | |
NM_005060.4(RORC):c.719G>A (p.Gly240Glu) | 6097 | RORC | Uncertain significance | -1 | RCV001954309; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787481 | 151787481 | C | T | 151787481 | - | | |
NM_005060.4(RORC):c.711G>T (p.Arg237Ser) | 6097 | RORC | Uncertain significance | rs144219320 | RCV001041366; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787489 | 151787489 | C | A | 1:g.151787489C>A | - | | |
NM_005060.4(RORC):c.711G>A (p.Arg237=) | 6097 | RORC | Likely benign | -1 | RCV002080311|RCV002156716; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857|MedGen:CN517202 | 1 | 151787489 | 151787489 | C | T | 151787489 | - | | |
NM_005060.4(RORC):c.708C>T (p.His236=) | 6097 | RORC | Likely benign | rs1572037999 | RCV000935620; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787492 | 151787492 | G | A | 1:g.151787492G>A | - | | |
NM_005060.4(RORC):c.697T>C (p.Phe233Leu) | 6097 | RORC | Uncertain significance | rs1007714530 | RCV001203894; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787503 | 151787503 | A | G | 1:g.151787503A>G | - | | |
NM_005060.4(RORC):c.694C>T (p.Arg232Cys) | 6097 | RORC | Uncertain significance | rs199550478 | RCV000795736; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787506 | 151787506 | G | A | 1:g.151787506G>A | - | | |
NM_005060.4(RORC):c.686G>A (p.Cys229Tyr) | 6097 | RORC | Uncertain significance | rs1312874608 | RCV001058561; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787514 | 151787514 | C | T | 1:g.151787514C>T | - | | |
NM_005060.4(RORC):c.683G>A (p.Arg228Gln) | 6097 | RORC | Uncertain significance | -1 | RCV001884123; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787517 | 151787517 | C | T | 151787517 | - | | |
NM_005060.4(RORC):c.675C>G (p.Thr225=) | 6097 | RORC | Likely benign | rs147153922 | RCV000913334|RCV001461713; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787525 | 151787525 | G | C | 1:g.151787525G>C | - | | |
NM_005060.4(RORC):c.634G>A (p.Glu212Lys) | 6097 | RORC | Uncertain significance | -1 | RCV001865031; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787566 | 151787566 | C | T | 151787566 | - | | |
NM_005060.4(RORC):c.623G>A (p.Arg208Gln) | 6097 | RORC | Uncertain significance | rs199657854 | RCV001343877; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787577 | 151787577 | C | T | 151787577 | - | | |
NM_005060.4(RORC):c.622C>A (p.Arg208=) | 6097 | RORC | Likely benign | rs187005517 | RCV000881854; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787578 | 151787578 | G | T | 1:g.151787578G>T | - | | |
NM_005060.4(RORC):c.612C>T (p.Tyr204=) | 6097 | RORC | Likely benign | rs529684150 | RCV000907051; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787588 | 151787588 | G | A | 1:g.151787588G>A | - | | |
NM_005060.4(RORC):c.598T>C (p.Cys200Arg) | 6097 | RORC | Uncertain significance | rs375293231 | RCV000794337; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787602 | 151787602 | A | G | 1:g.151787602A>G | - | | |
NM_005060.4(RORC):c.595T>C (p.Ser199Pro) | 6097 | RORC | Uncertain significance | rs1161656885 | RCV000652788; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787605 | 151787605 | A | G | 1:g.151787605A>G | ClinGen:CA342016499 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.587A>G (p.Asn196Ser) | 6097 | RORC | Uncertain significance | -1 | RCV002030659; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787613 | 151787613 | T | C | 151787613 | - | | |
NM_005060.4(RORC):c.586A>C (p.Asn196His) | 6097 | RORC | Uncertain significance | -1 | RCV001962064; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787614 | 151787614 | T | G | 151787614 | - | | |
NM_005060.4(RORC):c.580G>A (p.Gly194Arg) | 6097 | RORC | Uncertain significance | rs1651707381 | RCV001201430; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787620 | 151787620 | C | T | 1:g.151787620C>T | - | | |
NM_005060.4(RORC):c.560C>G (p.Ser187Cys) | 6097 | RORC | Uncertain significance | rs749461528 | RCV000797903; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787640 | 151787640 | G | C | 1:g.151787640G>C | - | | |
NM_005060.4(RORC):c.558T>C (p.Tyr186=) | 6097 | RORC | Likely benign | -1 | RCV002129381; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787642 | 151787642 | A | G | 151787642 | - | | |
NM_005060.4(RORC):c.542G>C (p.Gly181Ala) | 6097 | RORC | Uncertain significance | -1 | RCV001874079; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787658 | 151787658 | C | G | 151787658 | - | | |
NM_005060.4(RORC):c.489G>A (p.Ser163=) | 6097 | RORC | Benign | rs146520783 | RCV000652790; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787711 | 151787711 | C | T | 1:g.151787711C>T | ClinGen:CA1095911 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.471G>A (p.Gln157=) | 6097 | RORC | Likely benign | -1 | RCV001404416; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787729 | 151787729 | C | T | 151787729 | - | | |
NM_005060.4(RORC):c.466G>A (p.Gly156Arg) | 6097 | RORC | Uncertain significance | rs200851190 | RCV001211656; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787734 | 151787734 | C | T | 1:g.151787734C>T | - | | |
NM_005060.4(RORC):c.465C>T (p.Asp155=) | 6097 | RORC | Likely benign | rs768035028 | RCV000916735; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787735 | 151787735 | G | A | 1:g.151787735G>A | - | | |
NM_005060.4(RORC):c.455G>C (p.Gly152Ala) | 6097 | RORC | Uncertain significance | -1 | RCV002018678; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787745 | 151787745 | C | G | 151787745 | - | | |
NM_005060.4(RORC):c.438C>T (p.Thr146=) | 6097 | RORC | Likely benign | -1 | RCV002104010; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787762 | 151787762 | G | A | 151787762 | - | | |
NM_005060.4(RORC):c.422C>T (p.Ala141Val) | 6097 | RORC | Uncertain significance | rs201494136 | RCV000122518|RCV001065352; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787778 | 151787778 | G | A | 1:g.151787778G>A | ClinGen:CA232248 | CN517202 not provided; | |
NM_005060.4(RORC):c.420G>A (p.Gly140=) | 6097 | RORC | Likely benign | -1 | RCV001429727; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787780 | 151787780 | C | T | 151787780 | - | | |
NM_005060.4(RORC):c.407C>A (p.Thr136Asn) | 6097 | RORC | Uncertain significance | rs747949898 | RCV001224003; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787793 | 151787793 | G | T | 1:g.151787793G>T | - | | |
NM_005060.4(RORC):c.395C>G (p.Pro132Arg) | 6097 | RORC | Uncertain significance | -1 | RCV001863743; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787805 | 151787805 | G | C | 151787805 | - | | |
NM_005060.4(RORC):c.394C>T (p.Pro132Ser) | 6097 | RORC | Uncertain significance | rs770398960 | RCV001058345; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787806 | 151787806 | G | A | 1:g.151787806G>A | - | | |
NM_005060.4(RORC):c.382C>G (p.Gln128Glu) | 6097 | RORC | Uncertain significance | rs774023701 | RCV001338871; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787818 | 151787818 | G | C | 151787818 | - | | |
NM_005060.4(RORC):c.378A>G (p.Gln126=) | 6097 | RORC | Likely benign | -1 | RCV001472149; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787822 | 151787822 | T | C | 151787822 | - | | |
NM_005060.4(RORC):c.374G>A (p.Arg125Gln) | 6097 | RORC | Uncertain significance | rs200303989 | RCV001219986; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787826 | 151787826 | C | T | 1:g.151787826C>T | - | | |
NM_005060.4(RORC):c.373C>T (p.Arg125Trp) | 6097 | RORC | Uncertain significance | -1 | RCV001964790; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787827 | 151787827 | G | A | 151787827 | - | | |
NM_005060.4(RORC):c.334G>A (p.Asp112Asn) | 6097 | RORC | Uncertain significance | rs1651719747 | RCV001219781; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787866 | 151787866 | C | T | 1:g.151787866C>T | - | | |
NM_005060.4(RORC):c.327G>A (p.Lys109=) | 6097 | RORC | Likely benign | -1 | RCV001401552; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787873 | 151787873 | C | T | 151787873 | - | | |
NM_005060.4(RORC):c.312C>T (p.Gly104=) | 6097 | RORC | Likely benign | rs1572038507 | RCV000980985|RCV001480137; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151787888 | 151787888 | G | A | 1:g.151787888G>A | - | | |
NM_005060.4(RORC):c.298+16_298+17del | 6097 | RORC | Likely benign | -1 | RCV002181235; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789123 | 151789124 | CTG | C | 151789122 | - | | |
NM_005060.4(RORC):c.298+13C>T | 6097 | RORC | Likely benign | -1 | RCV002203798; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789127 | 151789127 | G | A | 151789127 | - | | |
NM_005060.4(RORC):c.291C>T (p.Ser97=) | 6097 | RORC | Likely benign | -1 | RCV002181885; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789147 | 151789147 | G | A | 151789147 | - | | |
NM_005060.4(RORC):c.282G>A (p.Leu94=) | 6097 | RORC | Likely benign | -1 | RCV002148377; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789156 | 151789156 | C | T | 151789156 | - | | |
NM_005060.4(RORC):c.279G>A (p.Ala93=) | 6097 | RORC | Likely benign | rs201334909 | RCV000936250; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789159 | 151789159 | C | T | 1:g.151789159C>T | - | | |
NM_005060.4(RORC):c.264G>A (p.Leu88=) | 6097 | RORC | Likely benign | -1 | RCV001403536; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789174 | 151789174 | C | T | 151789174 | - | | |
NM_005060.4(RORC):c.253C>T (p.His85Tyr) | 6097 | RORC | Uncertain significance | rs142141845 | RCV000707497; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789185 | 151789185 | G | A | 1:g.151789185G>A | - | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.245G>A (p.Arg82Gln) | 6097 | RORC | Uncertain significance | rs200944681 | RCV000792128; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789193 | 151789193 | C | T | 1:g.151789193C>T | - | | |
NM_005060.4(RORC):c.240A>G (p.Arg80=) | 6097 | RORC | Likely benign | -1 | RCV002116933; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789198 | 151789198 | T | C | 151789198 | - | | |
NM_005060.4(RORC):c.239G>A (p.Arg80Gln) | 6097 | RORC | Uncertain significance | -1 | RCV001936441; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789199 | 151789199 | C | T | 151789199 | - | | |
NM_005060.4(RORC):c.231C>T (p.Arg77=) | 6097 | RORC | Likely benign | -1 | RCV002168480; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789207 | 151789207 | G | A | 151789207 | - | | |
NM_005060.4(RORC):c.226G>A (p.Asp76Asn) | 6097 | RORC | Uncertain significance | rs751829653 | RCV001034822; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789212 | 151789212 | C | T | 1:g.151789212C>T | - | | |
NM_005060.4(RORC):c.201C>T (p.Cys67=) | 6097 | RORC | Likely benign | -1 | RCV001415171; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789237 | 151789237 | G | A | 151789237 | - | | |
NM_005060.4(RORC):c.198C>G (p.Ser66=) | 6097 | RORC | Likely benign | rs199891898 | RCV000900049|RCV001471943; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789240 | 151789240 | G | C | 1:g.151789240G>C | - | | |
NM_005060.4(RORC):c.189G>A (p.Ala63=) | 6097 | RORC | Likely benign | -1 | RCV002188878; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789249 | 151789249 | C | T | 151789249 | - | | |
NM_005060.4(RORC):c.188C>T (p.Ala63Val) | 6097 | RORC | Uncertain significance | rs143596741 | RCV001312664; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789250 | 151789250 | G | A | 151789250 | - | | |
NM_005060.4(RORC):c.187G>A (p.Ala63Thr) | 6097 | RORC | Uncertain significance | rs201373806 | RCV001204415; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789251 | 151789251 | C | T | 1:g.151789251C>T | - | | |
NM_005060.4(RORC):c.186C>T (p.Asn62=) | 6097 | RORC | Benign | rs34830957 | RCV000540237; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789252 | 151789252 | G | A | NC_000001.10:g.151789252G>A | ClinGen:CA1095968 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.177G>C (p.Gln59His) | 6097 | RORC | Uncertain significance | rs200449406 | RCV000819406; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789261 | 151789261 | C | G | 1:g.151789261C>G | - | | |
NM_005060.4(RORC):c.157-10C>T | 6097 | RORC | Likely benign | rs201345613 | RCV000980966|RCV001480132; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789291 | 151789291 | G | A | 1:g.151789291G>A | - | | |
NM_005060.4(RORC):c.156+24A>C | 6097 | RORC | Benign | -1 | RCV001794914; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789647 | 151789647 | T | G | 151789647 | - | | |
NM_005060.4(RORC):c.156+15T>C | 6097 | RORC | Likely benign | -1 | RCV002092752; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789656 | 151789656 | A | G | 151789656 | - | | |
NM_005060.4(RORC):c.156+9T>C | 6097 | RORC | Likely benign | -1 | RCV001471186; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789662 | 151789662 | A | G | 151789662 | - | | |
NM_005060.4(RORC):c.114G>A (p.Ser38=) | 6097 | RORC | Likely benign | -1 | RCV001430044; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789713 | 151789713 | C | T | 151789713 | - | | |
NM_005060.4(RORC):c.113C>T (p.Ser38Leu) | 6097 | RORC | Pathogenic | rs774357869 | RCV000201419; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789714 | 151789714 | G | A | 1:g.151789714G>A | ClinGen:CA210235,UniProtKB:P51449#VAR_073725,OMIM:602943.0001 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.108C>T (p.Asp36=) | 6097 | RORC | Likely benign | -1 | RCV002179742; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789719 | 151789719 | G | A | 151789719 | - | | |
NM_005060.4(RORC):c.105G>A (p.Gly35=) | 6097 | RORC | Likely benign | -1 | RCV002158654; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789722 | 151789722 | C | T | 151789722 | - | | |
NM_005060.4(RORC):c.83T>G (p.Val28Gly) | 6097 | RORC | Uncertain significance | -1 | RCV001942665; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151789744 | 151789744 | A | C | 151789744 | - | | |
NM_005060.4(RORC):c.70+19G>C | 6097 | RORC | Benign | -1 | RCV002132084; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151801886 | 151801886 | C | G | 151801886 | - | | |
NM_005060.4(RORC):c.70+16G>A | 6097 | RORC | Likely benign | -1 | RCV002175534; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151801889 | 151801889 | C | T | 151801889 | - | | |
NM_005060.4(RORC):c.70+12G>C | 6097 | RORC | Likely benign | -1 | RCV002212185; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151801893 | 151801893 | C | G | 151801893 | - | | |
NM_005060.4(RORC):c.67A>G (p.Thr23Ala) | 6097 | RORC | Uncertain significance | -1 | RCV002043292; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151801908 | 151801908 | T | C | 151801908 | - | | |
NM_005060.4(RORC):c.64C>T (p.His22Tyr) | 6097 | RORC | Uncertain significance | -1 | RCV001371995; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151801911 | 151801911 | G | A | 151801911 | - | | |
NM_005060.4(RORC):c.41-17C>T | 6097 | RORC | Benign | -1 | RCV001511917; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151801951 | 151801951 | G | A | 151801951 | - | | |
NM_005060.4(RORC):c.40+18dup | 6097 | RORC | Likely benign | -1 | RCV002157730; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804182 | 151804183 | A | AG | 151804182 | - | | |
NM_005060.4(RORC):c.40+15G>C | 6097 | RORC | Likely benign | -1 | RCV002134717; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804186 | 151804186 | C | G | 151804186 | - | | |
NM_005060.4(RORC):c.40+12A>G | 6097 | RORC | Likely benign | -1 | RCV002116871; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804189 | 151804189 | T | C | 151804189 | - | | |
NM_005060.4(RORC):c.40+1G>A | 6097 | RORC | Uncertain significance | rs770900276 | RCV001069749; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804200 | 151804200 | C | T | 1:g.151804200C>T | - | | |
NM_005060.4(RORC):c.38G>A (p.Arg13Gln) | 6097 | RORC | Uncertain significance | rs201691098 | RCV001241332; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804203 | 151804203 | C | T | 1:g.151804203C>T | - | | |
NM_005060.4(RORC):c.37C>T (p.Arg13Trp) | 6097 | RORC | Uncertain significance | rs745629463 | RCV001217232; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804204 | 151804204 | G | A | 1:g.151804204G>A | - | | |
NM_005060.4(RORC):c.35C>T (p.Ser12Leu) | 6097 | RORC | Uncertain significance | rs199968527 | RCV001226853; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804206 | 151804206 | G | A | 1:g.151804206G>A | - | | |
NM_005060.4(RORC):c.33C>T (p.Ala11=) | 6097 | RORC | Benign | rs151097632 | RCV000652793; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804208 | 151804208 | G | A | 1:g.151804208G>A | ClinGen:CA1096078 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.29G>A (p.Arg10Gln) | 6097 | RORC | Uncertain significance | -1 | RCV001894684; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804212 | 151804212 | C | T | 151804212 | - | | |
NM_005060.4(RORC):c.28C>T (p.Arg10Ter) | 6097 | RORC | Likely benign | rs17582155 | RCV000555512; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804213 | 151804213 | G | A | NC_000001.10:g.151804213G>A | ClinGen:CA1096081 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.20G>A (p.Arg7Lys) | 6097 | RORC | Uncertain significance | rs764892778 | RCV000803780; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804221 | 151804221 | C | T | 1:g.151804221C>T | - | | |
NM_005060.4(RORC):c.14C>G (p.Pro5Arg) | 6097 | RORC | Uncertain significance | rs201660295 | RCV001242920; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804227 | 151804227 | G | C | 1:g.151804227G>C | - | | |
NM_005060.4(RORC):c.8G>A (p.Arg3Lys) | 6097 | RORC | Uncertain significance | rs1652427545 | RCV001047927; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857 | 1 | 151804233 | 151804233 | C | T | 1:g.151804233C>T | - | | |
NC_000001.10:g.(?_149895434)_(156851434_?)dup | -1 | subset of 230 genes: ASH1L:FLG | Uncertain significance | -1 | RCV001958273|RCV001958272|RCV001958271|RCV001992607; | N | MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:477857|MONDO:MONDO:0007483,MedGen:C0406775,OMIM:127400, Orphanet:41; MONDO:MONDO:0014007,MedGen:C3539013,OMIM:615010, Orphanet:51|MONDO:MONDO:0014118,MedGen:C3809031,OMIM:615285, Orphanet:369852|MONDO | 1 | 149895434 | 156851434 | na | na | -1 | - | | |