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 | 199723679 | RCV000800954; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151779960 | 151779960 | | | 1:g.151779960C>A | - | | |
NM_005060.4(RORC):c.1535C>G (p.Ser512Ter) | 6097 | RORC | Uncertain significance | 1420634082 | RCV001329360; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151779970 | 151779970 | | | 151779970 | - | | |
NM_005060.4(RORC):c.1531G>A (p.Glu511Lys) | 6097 | RORC | Uncertain significance | -1 | RCV003035310; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151779974 | 151779974 | | | NC_000001.10:g.151779974C>T | - | | |
NM_005060.4(RORC):c.1530C>T (p.Thr510=) | 6097 | RORC | Benign | 200482554 | RCV001522938; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151779975 | 151779975 | | | 151779975 | - | | |
NM_005060.4(RORC):c.1512G>A (p.Glu504=) | 6097 | RORC | Likely benign | 199556058 | RCV001495958; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151779993 | 151779993 | | | 151779993 | - | | |
NM_005060.4(RORC):c.1490C>T (p.Ala497Val) | 6097 | RORC | Uncertain significance | 754827467 | RCV001037724; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780015 | 151780015 | | | 1:g.151780015G>A | - | | |
NM_005060.4(RORC):c.1489G>A (p.Ala497Thr) | 6097 | RORC | Uncertain significance | -1 | RCV002634720; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780016 | 151780016 | | | NC_000001.10:g.151780016C>T | - | | |
NM_005060.4(RORC):c.1488C>T (p.Ala496=) | 6097 | RORC | Likely benign | 781238253 | RCV002065958; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780017 | 151780017 | | | 1:g.151780017G>A | - | | |
NM_005060.4(RORC):c.1488C>A (p.Ala496=) | 6097 | RORC | Uncertain significance | 781238253 | RCV001342714; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780017 | 151780017 | | | 151780017 | - | | |
NM_005060.4(RORC):c.1485A>G (p.Gln495=) | 6097 | RORC | Likely benign | 200884022 | RCV001910735; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780020 | 151780020 | | | 151780020 | - | | |
NM_005060.4(RORC):c.1477G>A (p.Val493Met) | 6097 | RORC | Uncertain significance | 138308209 | RCV000238770|RCV001324956; | N | MedGen:CN169374|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780028 | 151780028 | | | NC_000001.10:g.151780028C>T | ClinGen:CA1095644 | CN169374 not specified; | |
NM_005060.4(RORC):c.1468C>T (p.His490Tyr) | 6097 | RORC | Uncertain significance | 1323586530 | RCV001320181; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780037 | 151780037 | | | 151780037 | - | | |
NM_005060.4(RORC):c.1464C>T (p.His488=) | 6097 | RORC | Likely benign | -1 | RCV002571758; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780041 | 151780041 | | | | - | | |
NM_005060.4(RORC):c.1456T>A (p.Phe486Ile) | 6097 | RORC | Uncertain significance | 1572032352 | RCV000793258; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780049 | 151780049 | | | 1:g.151780049A>T | - | | |
NM_005060.4(RORC):c.1447C>G (p.Leu483Val) | 6097 | RORC | Uncertain significance | 1177503789 | RCV001981405; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780058 | 151780058 | | | 151780058 | - | | |
NM_005060.4(RORC):c.1427G>C (p.Cys476Ser) | 6097 | RORC | Uncertain significance | 369382764 | RCV001307197; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780078 | 151780078 | | | 151780078 | - | | |
NM_005060.4(RORC):c.1407G>C (p.Lys469Asn) | 6097 | RORC | Uncertain significance | 2101649238 | RCV002048024; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780098 | 151780098 | | | 151780098 | - | | |
NM_005060.4(RORC):c.1406A>G (p.Lys469Arg) | 6097 | RORC | Benign | 200531029 | RCV000884930; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780099 | 151780099 | | | 1:g.151780099T>C | - | | |
NM_005060.4(RORC):c.1404C>G (p.Pro468=) | 6097 | RORC | Likely benign | 1040649839 | RCV002098181; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780101 | 151780101 | | | 151780101 | - | | |
NM_005060.4(RORC):c.1401A>C (p.Pro467=) | 6097 | RORC | Likely benign | 1572032393 | RCV001414151; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780104 | 151780104 | | | 151780104 | - | | |
NM_005060.4(RORC):c.1396-4C>G | 6097 | RORC | Likely benign | 2101649273 | RCV002137521; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780113 | 151780113 | | | 151780113 | - | | |
NM_005060.4(RORC):c.1396-8A>G | 6097 | RORC | Likely benign | 2101649279 | RCV002099240; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780117 | 151780117 | | | 151780117 | - | | |
NM_005060.4(RORC):c.1396-20C>A | 6097 | RORC | Likely benign | -1 | RCV002811438; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151780129 | 151780129 | | | NC_000001.10:g.151780129G>T | - | | |
NM_005060.4(RORC):c.1395+17G>A | 6097 | RORC | Likely benign | 1651516366 | RCV001968525; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783784 | 151783784 | | | 151783784 | - | | |
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly) | 6097 | RORC | Benign | 113195254 | RCV000958487|RCV001726389|RCV001702864; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:CN169374|MedGen:C3661900 | 1 | 151783805 | 151783805 | | | 1:g.151783805G>C | - | | |
NM_005060.4(RORC):c.1391C>T (p.Ala464Val) | 6097 | RORC | Uncertain significance | 113195254 | RCV001051336; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783805 | 151783805 | | | 1:g.151783805G>A | - | | |
NM_005060.4(RORC):c.1358A>T (p.His453Leu) | 6097 | RORC | Uncertain significance | 200283675 | RCV001035431; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783838 | 151783838 | | | 1:g.151783838T>A | - | | |
NM_005060.4(RORC):c.1356T>A (p.His452Gln) | 6097 | RORC | Uncertain significance | 200854121 | RCV001060896; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783840 | 151783840 | | | 1:g.151783840A>T | - | | |
NM_005060.4(RORC):c.1334A>G (p.Asn445Ser) | 6097 | RORC | Likely benign | 200556721 | RCV000915579; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783862 | 151783862 | | | 1:g.151783862T>C | - | | |
NM_005060.4(RORC):c.1329G>A (p.Gln443=) | 6097 | RORC | Likely benign | 144826157 | RCV001412184; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783867 | 151783867 | | | 1:g.151783867C>T | - | | |
NM_005060.4(RORC):c.1328A>C (p.Gln443Pro) | 6097 | RORC | Uncertain significance | 911262602 | RCV000821977; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783868 | 151783868 | | | 1:g.151783868T>G | - | | |
NM_005060.4(RORC):c.1321C>T (p.Gln441Ter) | 6097 | RORC | Pathogenic | 863225092 | RCV000201397; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783875 | 151783875 | | | 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 | 148168558 | RCV001205492; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783892 | 151783892 | | | 1:g.151783892T>C | - | | |
NM_005060.4(RORC):c.1288C>T (p.Arg430Trp) | 6097 | RORC | Uncertain significance | 1222050210 | RCV001370015; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783908 | 151783908 | | | 151783908 | - | | |
NM_005060.4(RORC):c.1286-10C>T | 6097 | RORC | Likely benign | 769733906 | RCV001429250; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783920 | 151783920 | | | 1:g.151783920G>A | - | | |
NM_005060.4(RORC):c.1286-10C>G | 6097 | RORC | Likely benign | 769733906 | RCV002102189; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783920 | 151783920 | | | 151783920 | - | | |
NM_005060.4(RORC):c.1286-11C>T | 6097 | RORC | Likely benign | 987415040 | RCV002104538; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783921 | 151783921 | | | 151783921 | - | | |
NM_005060.4(RORC):c.1286-18T>A | 6097 | RORC | Likely benign | -1 | RCV002881212; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151783928 | 151783928 | | | NC_000001.10:g.151783928A>T | - | | |
NM_005060.4(RORC):c.1285+8T>A | 6097 | RORC | Likely benign | 2101655548 | RCV002190531; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785415 | 151785415 | | | 151785415 | - | | |
NM_005060.4(RORC):c.1285C>T (p.His429Tyr) | 6097 | RORC | Uncertain significance | 202038919 | RCV000812904; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785423 | 151785423 | | | 1:g.151785423G>A | - | | |
NM_005060.4(RORC):c.1284C>A (p.Ala428=) | 6097 | RORC | Uncertain significance | 147363563 | RCV000808617; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785424 | 151785424 | | | 1:g.151785424G>T | - | | |
NM_005060.4(RORC):c.1267C>G (p.Leu423Val) | 6097 | RORC | Uncertain significance | 2101655603 | RCV001895420; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785441 | 151785441 | | | 151785441 | - | | |
NM_005060.4(RORC):c.1250T>C (p.Ile417Thr) | 6097 | RORC | Uncertain significance | 1039869799 | RCV001880379; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785458 | 151785458 | | | 151785458 | - | | |
NM_005060.4(RORC):c.1247A>G (p.Glu416Gly) | 6097 | RORC | Uncertain significance | 200523716 | RCV000652789; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785461 | 151785461 | | | 1:g.151785461T>C | ClinGen:CA30493011 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.1239C>T (p.Ser413=) | 6097 | RORC | Likely benign | 749314860 | RCV000914763; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785469 | 151785469 | | | 1:g.151785469G>A | - | | |
NM_005060.4(RORC):c.1227C>G (p.Ala409=) | 6097 | RORC | Likely benign | 774691650 | RCV002086508; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785481 | 151785481 | | | 151785481 | - | | |
NM_005060.4(RORC):c.1227C>T (p.Ala409=) | 6097 | RORC | Likely benign | -1 | RCV002631868; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785481 | 151785481 | | | | - | | |
NM_005060.4(RORC):c.1225G>A (p.Ala409Thr) | 6097 | RORC | Uncertain significance | -1 | RCV003027527; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785483 | 151785483 | | | NC_000001.10:g.151785483C>T | - | | |
NM_005060.4(RORC):c.1198A>G (p.Ile400Val) | 6097 | RORC | Uncertain significance | 200134900 | RCV001906693; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785510 | 151785510 | | | 151785510 | - | | |
NM_005060.4(RORC):c.1193G>C (p.Ser398Thr) | 6097 | RORC | Uncertain significance | -1 | RCV002952725; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785515 | 151785515 | | | NC_000001.10:g.151785515C>G | - | | |
NM_005060.4(RORC):c.1185G>A (p.Glu395=) | 6097 | RORC | Likely benign | 2101655715 | RCV002133660; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785523 | 151785523 | | | 151785523 | - | | |
NM_005060.4(RORC):c.1175-5A>T | 6097 | RORC | Likely benign | 1651600339 | RCV002169472; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785538 | 151785538 | | | 151785538 | - | | |
NM_005060.4(RORC):c.1174+15G>A | 6097 | RORC | Likely benign | 372774021 | RCV002132599; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785700 | 151785700 | | | 151785700 | - | | |
NM_005060.4(RORC):c.1174+15G>T | 6097 | RORC | Likely benign | -1 | RCV002701167; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785700 | 151785700 | | | NC_000001.10:g.151785700C>A | - | | |
NM_005060.4(RORC):c.1174+9del | 6097 | RORC | Likely benign | -1 | RCV002863459; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785706 | 151785706 | | | NC_000001.10:g.151785706del | - | | |
NM_005060.4(RORC):c.1165C>T (p.Arg389Ter) | 6097 | RORC | Likely pathogenic | -1 | RCV003337837; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785724 | 151785724 | | | | - | | |
NM_005060.4(RORC):c.1142A>T (p.Lys381Ile) | 6097 | RORC | Uncertain significance | 1651610525 | RCV001239159; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785747 | 151785747 | | | 1:g.151785747T>A | - | | |
NM_005060.4(RORC):c.1125G>A (p.Thr375=) | 6097 | RORC | Likely benign | 201953038 | RCV000652791; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785764 | 151785764 | | | 1:g.151785764C>T | ClinGen:CA1095746 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.1125G>T (p.Thr375=) | 6097 | RORC | Likely benign | 201953038 | RCV001502032; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785764 | 151785764 | | | 151785764 | - | | |
NM_005060.4(RORC):c.1124C>T (p.Thr375Met) | 6097 | RORC | Uncertain significance | 757895511 | RCV001872701|RCV002551137; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C0950123 | 1 | 151785765 | 151785765 | | | 151785765 | - | | |
NM_005060.4(RORC):c.1121G>A (p.Arg374His) | 6097 | RORC | Uncertain significance | 200446012 | RCV001929241; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785768 | 151785768 | | | 151785768 | - | | |
NM_005060.4(RORC):c.1120C>T (p.Arg374Cys) | 6097 | RORC | Uncertain significance | -1 | RCV003092104; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785769 | 151785769 | | | NC_000001.10:g.151785769G>A | - | | |
NM_005060.4(RORC):c.1118A>G (p.Asn373Ser) | 6097 | RORC | Uncertain significance | 201629608 | RCV001071141|RCV003413895; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857| | 1 | 151785771 | 151785771 | | | 1:g.151785771T>C | - | | |
NM_005060.4(RORC):c.1101G>A (p.Arg367=) | 6097 | RORC | Likely benign | 1185658864 | RCV001418519; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785788 | 151785788 | | | 151785788 | - | | |
NM_005060.4(RORC):c.1099C>G (p.Arg367Gly) | 6097 | RORC | Uncertain significance | 1572036408 | RCV000803819; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785790 | 151785790 | | | 1:g.151785790G>C | - | | |
NM_005060.4(RORC):c.1098C>T (p.Cys366=) | 6097 | RORC | Likely benign | -1 | RCV002571142; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785791 | 151785791 | | | | - | | |
NM_005060.4(RORC):c.1089T>C (p.Val363=) | 6097 | RORC | Benign | 199641073 | RCV001516586; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785800 | 151785800 | | | 151785800 | - | | |
NM_005060.4(RORC):c.1086G>C (p.Leu362=) | 6097 | RORC | Likely benign | 369002008 | RCV001398427; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785803 | 151785803 | | | 1:g.151785803C>G | - | | |
NM_005060.4(RORC):c.1070C>T (p.Ala357Val) | 6097 | RORC | Likely benign | 139551639 | RCV000652787; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785819 | 151785819 | | | 1:g.151785819G>A | ClinGen:CA1095758 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.1067-4C>A | 6097 | RORC | Benign | 199838177 | RCV000918166; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785826 | 151785826 | | | 1:g.151785826G>T | - | | |
NM_005060.4(RORC):c.1067-13C>T | 6097 | RORC | Likely benign | 2101656219 | RCV002102328; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785835 | 151785835 | | | 151785835 | - | | |
NM_005060.4(RORC):c.1066+18G>A | 6097 | RORC | Uncertain significance | -1 | RCV002800098; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785946 | 151785946 | | | NC_000001.10:g.151785946C>T | - | | |
NM_005060.4(RORC):c.1062A>G (p.Lys354=) | 6097 | RORC | Uncertain significance | 2101656406 | RCV001908650; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785968 | 151785968 | | | 151785968 | - | | |
NM_005060.4(RORC):c.1045C>A (p.Gln349Lys) | 6097 | RORC | Uncertain significance | -1 | RCV002649809; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785985 | 151785985 | | | NC_000001.10:g.151785985G>T | - | | |
NM_005060.4(RORC):c.1032C>T (p.Leu344=) | 6097 | RORC | Likely benign | -1 | RCV003058605; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151785998 | 151785998 | | | | - | | |
NM_005060.4(RORC):c.1014C>T (p.Leu338=) | 6097 | RORC | Likely benign | 1001402492 | RCV001464709; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786016 | 151786016 | | | 151786016 | - | | |
NM_005060.4(RORC):c.1003G>T (p.Ala335Ser) | 6097 | RORC | Uncertain significance | 1651625342 | RCV001036223; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786027 | 151786027 | | | 1:g.151786027C>A | - | | |
NM_005060.4(RORC):c.1002C>T (p.Phe334=) | 6097 | RORC | Likely benign | 745845256 | RCV002100746; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786028 | 151786028 | | | 151786028 | - | | |
NM_005060.4(RORC):c.992T>C (p.Val331Ala) | 6097 | RORC | Uncertain significance | 2101656505 | RCV001929134; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786038 | 151786038 | | | 151786038 | - | | |
NM_005060.4(RORC):c.990C>T (p.Tyr330=) | 6097 | RORC | Benign/Likely benign | 61754474 | RCV000652792|RCV001703228; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:C3661900 | 1 | 151786040 | 151786040 | | | 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 | 1572036625 | RCV001416697; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786043 | 151786043 | | | 1:g.151786043C>T | - | | |
NM_005060.4(RORC):c.985C>T (p.Gln329Ter) | 6097 | RORC | Pathogenic | 863225091 | RCV000201359; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786045 | 151786045 | | | 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 | 191835080 | RCV002191223; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786055 | 151786055 | | | 151786055 | - | | |
NM_005060.4(RORC):c.965A>G (p.His322Arg) | 6097 | RORC | Uncertain significance | -1 | RCV002919208; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786065 | 151786065 | | | NC_000001.10:g.151786065T>C | - | | |
NM_005060.4(RORC):c.960T>C (p.Cys320=) | 6097 | RORC | Benign | 147748693 | RCV001518527; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786070 | 151786070 | | | 151786070 | - | | |
NM_005060.4(RORC):c.955C>A (p.Arg319=) | 6097 | RORC | Likely benign | 765568492 | RCV001464761; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786075 | 151786075 | | | 151786075 | - | | |
NM_005060.4(RORC):c.934-1G>A | 6097 | RORC | Likely pathogenic | 2101656625 | RCV001379824; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786097 | 151786097 | | | 151786097 | - | | |
NM_005060.4(RORC):c.934-6C>T | 6097 | RORC | Likely benign | -1 | RCV002710263; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786102 | 151786102 | | | NC_000001.10:g.151786102G>A | - | | |
NM_005060.4(RORC):c.821_933+84del | 6097 | RORC | Uncertain significance | -1 | RCV003336044; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151786966 | 151787162 | | | | - | | |
NM_005060.4(RORC):c.933+13G>A | 6097 | RORC | Likely benign | 141521274 | RCV002125240; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787037 | 151787037 | | | 151787037 | - | | |
NM_005060.4(RORC):c.931A>C (p.Lys311Gln) | 6097 | RORC | Uncertain significance | 1651672789 | RCV001197549; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787052 | 151787052 | | | 1:g.151787052T>G | - | | |
NM_005060.4(RORC):c.916A>T (p.Thr306Ser) | 6097 | RORC | Uncertain significance | -1 | RCV002618679; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787067 | 151787067 | | | NC_000001.10:g.151787067T>A | - | | |
NM_005060.4(RORC):c.905G>A (p.Arg302Gln) | 6097 | RORC | Uncertain significance | 758239791 | RCV001307723; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787078 | 151787078 | | | 151787078 | - | | |
NM_005060.4(RORC):c.903C>G (p.Ser301=) | 6097 | RORC | Likely benign | -1 | RCV002635385; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787080 | 151787080 | | | | - | | |
NM_005060.4(RORC):c.888C>T (p.Arg296=) | 6097 | RORC | Likely benign | 200455794 | RCV000939034; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787095 | 151787095 | | | 1:g.151787095G>A | - | | |
NM_005060.4(RORC):c.887G>A (p.Arg296His) | 6097 | RORC | Uncertain significance | -1 | RCV002634792; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787096 | 151787096 | | | NC_000001.10:g.151787096C>T | - | | |
NM_005060.4(RORC):c.880C>T (p.Arg294Trp) | 6097 | RORC | Uncertain significance | 749576267 | RCV001298892; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787103 | 151787103 | | | 151787103 | - | | |
NM_005060.4(RORC):c.864G>A (p.Arg288=) | 6097 | RORC | Likely benign | 138886588 | RCV001465778; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787119 | 151787119 | | | 151787119 | - | | |
NM_005060.4(RORC):c.863G>A (p.Arg288Gln) | 6097 | RORC | Uncertain significance | 997157586 | RCV002042786|RCV002642133; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C0950123 | 1 | 151787120 | 151787120 | | | 151787120 | - | | |
NM_005060.4(RORC):c.858G>T (p.Gln286His) | 6097 | RORC | Uncertain significance | 760810577 | RCV001960185; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787125 | 151787125 | | | 151787125 | - | | |
NM_005060.4(RORC):c.858G>A (p.Gln286=) | 6097 | RORC | Likely benign | 760810577 | RCV002162516; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787125 | 151787125 | | | 151787125 | - | | |
NM_005060.4(RORC):c.855C>T (p.Cys285=) | 6097 | RORC | Likely benign | -1 | RCV003065656; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787128 | 151787128 | | | | - | | |
NM_005060.4(RORC):c.852A>T (p.Thr284=) | 6097 | RORC | Likely benign | 200695270 | RCV001394609; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787131 | 151787131 | | | 151787131 | - | | |
NM_005060.4(RORC):c.843C>T (p.Tyr281=) | 6097 | RORC | Likely benign | 1401597728 | RCV002076926; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787140 | 151787140 | | | 151787140 | - | | |
NM_005060.4(RORC):c.829G>A (p.Val277Ile) | 6097 | RORC | Uncertain significance | 201219763 | RCV001952843; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787154 | 151787154 | | | 151787154 | - | | |
NM_005060.4(RORC):c.828C>T (p.Ser276=) | 6097 | RORC | Likely benign | 150459022 | RCV001405990; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787155 | 151787155 | | | 1:g.151787155G>A | - | | |
NM_005060.4(RORC):c.814C>T (p.His272Tyr) | 6097 | RORC | Uncertain significance | -1 | RCV003048523; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787169 | 151787169 | | | NC_000001.10:g.151787169G>A | - | | |
NM_005060.4(RORC):c.812-8G>A | 6097 | RORC | Uncertain significance | 755681607 | RCV001971945; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787179 | 151787179 | | | 151787179 | - | | |
NM_005060.4(RORC):c.812-9C>T | 6097 | RORC | Benign | 201629576 | RCV001513975; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787180 | 151787180 | | | 151787180 | - | | |
NM_005060.4(RORC):c.811+18T>C | 6097 | RORC | Likely benign | -1 | RCV002640278; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787371 | 151787371 | | | NC_000001.10:g.151787371A>G | - | | |
NM_005060.4(RORC):c.811+12G>A | 6097 | RORC | Likely benign | -1 | RCV002711625; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787377 | 151787377 | | | NC_000001.10:g.151787377C>T | - | | |
NM_005060.4(RORC):c.811+9C>G | 6097 | RORC | Likely benign | 201144886 | RCV001872614; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787380 | 151787380 | | | 151787380 | - | | |
NM_005060.4(RORC):c.803C>G (p.Thr268Arg) | 6097 | RORC | Uncertain significance | -1 | RCV002824301; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787397 | 151787397 | | | NC_000001.10:g.151787397G>C | - | | |
NM_005060.4(RORC):c.780G>A (p.Pro260=) | 6097 | RORC | Likely benign | 1010853863 | RCV001461842; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787420 | 151787420 | | | 151787420 | - | | |
NM_005060.4(RORC):c.779C>T (p.Pro260Leu) | 6097 | RORC | Uncertain significance | 1209731485 | RCV001915232; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787421 | 151787421 | | | 151787421 | - | | |
NM_005060.4(RORC):c.770G>A (p.Arg257His) | 6097 | RORC | Uncertain significance | 746187982 | RCV001367080; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787430 | 151787430 | | | 151787430 | - | | |
NM_005060.4(RORC):c.769C>T (p.Arg257Cys) | 6097 | RORC | Uncertain significance | -1 | RCV003093685; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787431 | 151787431 | | | NC_000001.10:g.151787431G>A | - | | |
NM_005060.4(RORC):c.754G>A (p.Gly252Ser) | 6097 | RORC | Uncertain significance | 200227947 | RCV000819503; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787446 | 151787446 | | | 1:g.151787446C>T | - | | |
NM_005060.4(RORC):c.749G>A (p.Ser250Asn) | 6097 | RORC | Likely benign | 41263732 | RCV000529290|RCV003409825; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:C3661900 | 1 | 151787451 | 151787451 | | | 1:g.151787451C>T | ClinGen:CA1095865 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.737A>C (p.Gln246Pro) | 6097 | RORC | Uncertain significance | 199793998 | RCV001056447; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787463 | 151787463 | | | 1:g.151787463T>G | - | | |
NM_005060.4(RORC):c.719G>A (p.Gly240Glu) | 6097 | RORC | Uncertain significance | 2101658675 | RCV001954309; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787481 | 151787481 | | | 151787481 | - | | |
NM_005060.4(RORC):c.718G>A (p.Gly240Arg) | 6097 | RORC | Uncertain significance | -1 | RCV003084873; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787482 | 151787482 | | | NC_000001.10:g.151787482C>T | - | | |
NM_005060.4(RORC):c.718G>C (p.Gly240Arg) | 6097 | RORC | Uncertain significance | -1 | RCV002819204; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787482 | 151787482 | | | NC_000001.10:g.151787482C>G | - | | |
NM_005060.4(RORC):c.711G>T (p.Arg237Ser) | 6097 | RORC | Uncertain significance | 144219320 | RCV001041366; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787489 | 151787489 | | | 1:g.151787489C>A | - | | |
NM_005060.4(RORC):c.711G>A (p.Arg237=) | 6097 | RORC | Likely benign | 144219320 | RCV002080311|RCV002156716; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:C3661900 | 1 | 151787489 | 151787489 | | | 151787489 | - | | |
NM_005060.4(RORC):c.708C>T (p.His236=) | 6097 | RORC | Likely benign | 1572037999 | RCV000935620; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787492 | 151787492 | | | 1:g.151787492G>A | - | | |
NM_005060.4(RORC):c.697T>C (p.Phe233Leu) | 6097 | RORC | Uncertain significance | 1007714530 | RCV001203894; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787503 | 151787503 | | | 1:g.151787503A>G | - | | |
NM_005060.4(RORC):c.694C>T (p.Arg232Cys) | 6097 | RORC | Uncertain significance | 199550478 | RCV000795736; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787506 | 151787506 | | | 1:g.151787506G>A | - | | |
NM_005060.4(RORC):c.686G>A (p.Cys229Tyr) | 6097 | RORC | Uncertain significance | 1312874608 | RCV001058561; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787514 | 151787514 | | | 1:g.151787514C>T | - | | |
NM_005060.4(RORC):c.683G>A (p.Arg228Gln) | 6097 | RORC | Uncertain significance | 200978307 | RCV001884123; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787517 | 151787517 | | | 151787517 | - | | |
NM_005060.4(RORC):c.675C>G (p.Thr225=) | 6097 | RORC | Likely benign | 147153922 | RCV001461713; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787525 | 151787525 | | | 1:g.151787525G>C | - | | |
NM_005060.4(RORC):c.675C>A (p.Thr225=) | 6097 | RORC | Likely benign | -1 | RCV002575191; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787525 | 151787525 | | | | - | | |
NM_005060.4(RORC):c.662G>A (p.Gly221Asp) | 6097 | RORC | Uncertain significance | -1 | RCV003065168; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787538 | 151787538 | | | NC_000001.10:g.151787538C>T | - | | |
NM_005060.4(RORC):c.661G>A (p.Gly221Ser) | 6097 | RORC | Uncertain significance | -1 | RCV002903394; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787539 | 151787539 | | | NC_000001.10:g.151787539C>T | - | | |
NM_005060.4(RORC):c.634G>A (p.Glu212Lys) | 6097 | RORC | Uncertain significance | 2101658846 | RCV001865031; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787566 | 151787566 | | | 151787566 | - | | |
NM_005060.4(RORC):c.623G>A (p.Arg208Gln) | 6097 | RORC | Uncertain significance | 199657854 | RCV001343877|RCV003169657; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C0950123 | 1 | 151787577 | 151787577 | | | 151787577 | - | | |
NM_005060.4(RORC):c.622C>A (p.Arg208=) | 6097 | RORC | Likely benign | 187005517 | RCV000881854; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787578 | 151787578 | | | 1:g.151787578G>T | - | | |
NM_005060.4(RORC):c.612C>T (p.Tyr204=) | 6097 | RORC | Likely benign | 529684150 | RCV000907051; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787588 | 151787588 | | | 1:g.151787588G>A | - | | |
NM_005060.4(RORC):c.598T>C (p.Cys200Arg) | 6097 | RORC | Uncertain significance | 375293231 | RCV000794337; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787602 | 151787602 | | | 1:g.151787602A>G | - | | |
NM_005060.4(RORC):c.596C>T (p.Ser199Leu) | 6097 | RORC | Uncertain significance | -1 | RCV002943102; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787604 | 151787604 | | | NC_000001.10:g.151787604G>A | - | | |
NM_005060.4(RORC):c.595T>C (p.Ser199Pro) | 6097 | RORC | Uncertain significance | 1161656885 | RCV000652788; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787605 | 151787605 | | | 1:g.151787605A>G | ClinGen:CA342016499 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.587A>G (p.Asn196Ser) | 6097 | RORC | Uncertain significance | 201163910 | RCV002030659; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787613 | 151787613 | | | 151787613 | - | | |
NM_005060.4(RORC):c.586A>C (p.Asn196His) | 6097 | RORC | Uncertain significance | 1465721781 | RCV001962064; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787614 | 151787614 | | | 151787614 | - | | |
NM_005060.4(RORC):c.580G>A (p.Gly194Arg) | 6097 | RORC | Uncertain significance | 1651707381 | RCV001201430; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787620 | 151787620 | | | 1:g.151787620C>T | - | | |
NM_005060.4(RORC):c.560C>G (p.Ser187Cys) | 6097 | RORC | Uncertain significance | 749461528 | RCV000797903|RCV003243305; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C0950123 | 1 | 151787640 | 151787640 | | | 1:g.151787640G>C | - | | |
NM_005060.4(RORC):c.558T>C (p.Tyr186=) | 6097 | RORC | Likely benign | 199888370 | RCV002129381; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787642 | 151787642 | | | 151787642 | - | | |
NM_005060.4(RORC):c.542G>C (p.Gly181Ala) | 6097 | RORC | Uncertain significance | 774465877 | RCV001874079; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787658 | 151787658 | | | 151787658 | - | | |
NM_005060.4(RORC):c.517C>T (p.Pro173Ser) | 6097 | RORC | Uncertain significance | -1 | RCV002991368; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787683 | 151787683 | | | NC_000001.10:g.151787683G>A | - | | |
NM_005060.4(RORC):c.498G>A (p.Leu166=) | 6097 | RORC | Likely benign | -1 | RCV002690881; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787702 | 151787702 | | | | - | | |
NM_005060.4(RORC):c.494A>G (p.Asp165Gly) | 6097 | RORC | Uncertain significance | -1 | RCV002988801; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787706 | 151787706 | | | NC_000001.10:g.151787706T>C | - | | |
NM_005060.4(RORC):c.489G>A (p.Ser163=) | 6097 | RORC | Benign | 146520783 | RCV000652790; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787711 | 151787711 | | | 1:g.151787711C>T | ClinGen:CA1095911 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.485C>T (p.Ser162Phe) | 6097 | RORC | Uncertain significance | -1 | RCV003039623; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787715 | 151787715 | | | NC_000001.10:g.151787715G>A | - | | |
NM_005060.4(RORC):c.471G>A (p.Gln157=) | 6097 | RORC | Likely benign | 200282601 | RCV001404416; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787729 | 151787729 | | | 151787729 | - | | |
NM_005060.4(RORC):c.466G>A (p.Gly156Arg) | 6097 | RORC | Uncertain significance | 200851190 | RCV001211656; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787734 | 151787734 | | | 1:g.151787734C>T | - | | |
NM_005060.4(RORC):c.465C>T (p.Asp155=) | 6097 | RORC | Likely benign | 768035028 | RCV000916735; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787735 | 151787735 | | | 1:g.151787735G>A | - | | |
NM_005060.4(RORC):c.455G>C (p.Gly152Ala) | 6097 | RORC | Uncertain significance | 1651714174 | RCV002018678; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787745 | 151787745 | | | 151787745 | - | | |
NM_005060.4(RORC):c.438C>T (p.Thr146=) | 6097 | RORC | Likely benign | 200609284 | RCV002104010; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787762 | 151787762 | | | 151787762 | - | | |
NM_005060.4(RORC):c.429A>G (p.Gly143=) | 6097 | RORC | Likely benign | -1 | RCV002871035; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787771 | 151787771 | | | | - | | |
NM_005060.4(RORC):c.422C>T (p.Ala141Val) | 6097 | RORC | Uncertain significance | 201494136 | RCV000122518|RCV001065352; | N | MedGen:CN517202|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787778 | 151787778 | | | 1:g.151787778G>A | ClinGen:CA232248 | CN517202 not provided; | |
NM_005060.4(RORC):c.420G>A (p.Gly140=) | 6097 | RORC | Likely benign | 746113101 | RCV001429727; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787780 | 151787780 | | | 151787780 | - | | |
NM_005060.4(RORC):c.407C>A (p.Thr136Asn) | 6097 | RORC | Uncertain significance | 747949898 | RCV001224003; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787793 | 151787793 | | | 1:g.151787793G>T | - | | |
NM_005060.4(RORC):c.405G>A (p.Lys135=) | 6097 | RORC | Likely benign | -1 | RCV002730373; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787795 | 151787795 | | | | - | | |
NM_005060.4(RORC):c.395C>G (p.Pro132Arg) | 6097 | RORC | Uncertain significance | 762477159 | RCV001863743; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787805 | 151787805 | | | 151787805 | - | | |
NM_005060.4(RORC):c.394C>T (p.Pro132Ser) | 6097 | RORC | Uncertain significance | 770398960 | RCV001058345; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787806 | 151787806 | | | 1:g.151787806G>A | - | | |
NM_005060.4(RORC):c.394C>A (p.Pro132Thr) | 6097 | RORC | Uncertain significance | -1 | RCV003081812; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787806 | 151787806 | | | NC_000001.10:g.151787806G>T | - | | |
NM_005060.4(RORC):c.382C>G (p.Gln128Glu) | 6097 | RORC | Uncertain significance | 774023701 | RCV001338871; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787818 | 151787818 | | | 151787818 | - | | |
NM_005060.4(RORC):c.378A>G (p.Gln126=) | 6097 | RORC | Likely benign | 1208318421 | RCV001472149; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787822 | 151787822 | | | 151787822 | - | | |
NM_005060.4(RORC):c.374G>A (p.Arg125Gln) | 6097 | RORC | Uncertain significance | 200303989 | RCV001219986; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787826 | 151787826 | | | 1:g.151787826C>T | - | | |
NM_005060.4(RORC):c.373C>T (p.Arg125Trp) | 6097 | RORC | Uncertain significance | 767984181 | RCV001964790; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787827 | 151787827 | | | 151787827 | - | | |
NM_005060.4(RORC):c.370C>G (p.Gln124Glu) | 6097 | RORC | Uncertain significance | -1 | RCV003072450; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787830 | 151787830 | | | NC_000001.10:g.151787830G>C | - | | |
NM_005060.4(RORC):c.354G>A (p.Val118=) | 6097 | RORC | Likely benign | -1 | RCV002954304; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787846 | 151787846 | | | | - | | |
NM_005060.4(RORC):c.334G>A (p.Asp112Asn) | 6097 | RORC | Uncertain significance | 1651719747 | RCV001219781; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787866 | 151787866 | | | 1:g.151787866C>T | - | | |
NM_005060.4(RORC):c.327G>A (p.Lys109=) | 6097 | RORC | Likely benign | 376651505 | RCV001401552; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787873 | 151787873 | | | 151787873 | - | | |
NM_005060.4(RORC):c.313C>T (p.Arg105Cys) | 6097 | RORC | Uncertain significance | -1 | RCV002790415; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787887 | 151787887 | | | NC_000001.10:g.151787887G>A | - | | |
NM_005060.4(RORC):c.312C>T (p.Gly104=) | 6097 | RORC | Likely benign | 1572038507 | RCV001480137; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787888 | 151787888 | | | 1:g.151787888G>A | - | | |
NM_005060.4(RORC):c.299-14T>C | 6097 | RORC | Likely benign | -1 | RCV003082885; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787915 | 151787915 | | | NC_000001.10:g.151787915A>G | - | | |
NM_005060.4(RORC):c.299-16C>T | 6097 | RORC | Likely benign | -1 | RCV002792134; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151787917 | 151787917 | | | NC_000001.10:g.151787917G>A | - | | |
NM_005060.4(RORC):c.298+16_298+17del | 6097 | RORC | Likely benign | 772506661 | RCV002181235; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789123 | 151789124 | | | 151789122 | - | | |
NM_005060.4(RORC):c.298+13C>T | 6097 | RORC | Likely benign | 200047866 | RCV002203798; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789127 | 151789127 | | | 151789127 | - | | |
NM_005060.4(RORC):c.291C>T (p.Ser97=) | 6097 | RORC | Likely benign | 1213683561 | RCV002181885; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789147 | 151789147 | | | 151789147 | - | | |
NM_005060.4(RORC):c.282G>A (p.Leu94=) | 6097 | RORC | Likely benign | 1651764815 | RCV002148377; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789156 | 151789156 | | | 151789156 | - | | |
NM_005060.4(RORC):c.279G>A (p.Ala93=) | 6097 | RORC | Likely benign | 201334909 | RCV000936250; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789159 | 151789159 | | | 1:g.151789159C>T | - | | |
NM_005060.4(RORC):c.264G>A (p.Leu88=) | 6097 | RORC | Likely benign | 901597268 | RCV001403536; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789174 | 151789174 | | | 151789174 | - | | |
NM_005060.4(RORC):c.253C>T (p.His85Tyr) | 6097 | RORC | Uncertain significance | 142141845 | RCV000707497; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789185 | 151789185 | | | 1:g.151789185G>A | - | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.245G>A (p.Arg82Gln) | 6097 | RORC | Uncertain significance | 200944681 | RCV000792128|RCV003166089; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C0950123 | 1 | 151789193 | 151789193 | | | 1:g.151789193C>T | - | | |
NM_005060.4(RORC):c.240A>G (p.Arg80=) | 6097 | RORC | Likely benign | 368393221 | RCV002116933; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789198 | 151789198 | | | 151789198 | - | | |
NM_005060.4(RORC):c.239G>A (p.Arg80Gln) | 6097 | RORC | Uncertain significance | 1651766753 | RCV001936441; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789199 | 151789199 | | | 151789199 | - | | |
NM_005060.4(RORC):c.231C>T (p.Arg77=) | 6097 | RORC | Likely benign | 2101661397 | RCV002168480; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789207 | 151789207 | | | 151789207 | - | | |
NM_005060.4(RORC):c.226G>A (p.Asp76Asn) | 6097 | RORC | Uncertain significance | 751829653 | RCV001034822; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789212 | 151789212 | | | 1:g.151789212C>T | - | | |
NM_005060.4(RORC):c.203C>T (p.Thr68Ile) | 6097 | RORC | Uncertain significance | -1 | RCV002800192; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789235 | 151789235 | | | NC_000001.10:g.151789235G>A | - | | |
NM_005060.4(RORC):c.201C>T (p.Cys67=) | 6097 | RORC | Likely benign | 749237284 | RCV001415171; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789237 | 151789237 | | | 151789237 | - | | |
NM_005060.4(RORC):c.198C>G (p.Ser66=) | 6097 | RORC | Likely benign | 199891898 | RCV001471943; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789240 | 151789240 | | | 1:g.151789240G>C | - | | |
NM_005060.4(RORC):c.189G>A (p.Ala63=) | 6097 | RORC | Likely benign | 778919253 | RCV002188878; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789249 | 151789249 | | | 151789249 | - | | |
NM_005060.4(RORC):c.188C>T (p.Ala63Val) | 6097 | RORC | Uncertain significance | 143596741 | RCV001312664; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789250 | 151789250 | | | 151789250 | - | | |
NM_005060.4(RORC):c.187G>A (p.Ala63Thr) | 6097 | RORC | Uncertain significance | 201373806 | RCV001204415; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789251 | 151789251 | | | 1:g.151789251C>T | - | | |
NM_005060.4(RORC):c.186C>T (p.Asn62=) | 6097 | RORC | Benign | 34830957 | RCV000540237; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789252 | 151789252 | | | 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 | 200449406 | RCV000819406; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789261 | 151789261 | | | 1:g.151789261C>G | - | | |
NM_005060.4(RORC):c.157-10C>T | 6097 | RORC | Likely benign | 201345613 | RCV001480132; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789291 | 151789291 | | | 1:g.151789291G>A | - | | |
NM_005060.4(RORC):c.156+24A>C | 6097 | RORC | Benign | 12144914 | RCV001794914|RCV003401720; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:CN169374 | 1 | 151789647 | 151789647 | | | 151789647 | - | | |
NM_005060.4(RORC):c.156+20A>C | 6097 | RORC | Likely benign | -1 | RCV003092468; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789651 | 151789651 | | | NC_000001.10:g.151789651T>G | - | | |
NM_005060.4(RORC):c.156+17dup | 6097 | RORC | Likely benign | -1 | RCV003098906; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789653 | 151789654 | | | NC_000001.10:g.151789654dup | - | | |
NM_005060.4(RORC):c.156+15T>C | 6097 | RORC | Likely benign | 2101662370 | RCV002092752; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789656 | 151789656 | | | 151789656 | - | | |
NM_005060.4(RORC):c.156+9T>C | 6097 | RORC | Likely benign | 1373753591 | RCV001471186; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789662 | 151789662 | | | 151789662 | - | | |
NM_005060.4(RORC):c.129C>T (p.Tyr43=) | 6097 | RORC | Likely benign | -1 | RCV003076563; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789698 | 151789698 | | | | - | | |
NM_005060.4(RORC):c.114G>A (p.Ser38=) | 6097 | RORC | Likely benign | 201478663 | RCV001430044; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789713 | 151789713 | | | 151789713 | - | | |
NM_005060.4(RORC):c.113C>T (p.Ser38Leu) | 6097 | RORC | Pathogenic | 774357869 | RCV000201419; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789714 | 151789714 | | | 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 | 759669408 | RCV002179742; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789719 | 151789719 | | | 151789719 | - | | |
NM_005060.4(RORC):c.105G>A (p.Gly35=) | 6097 | RORC | Likely benign | 199920990 | RCV002158654; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789722 | 151789722 | | | 151789722 | - | | |
NM_005060.4(RORC):c.83T>G (p.Val28Gly) | 6097 | RORC | Uncertain significance | 2101662490 | RCV001942665; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789744 | 151789744 | | | 151789744 | - | | |
NM_005060.4(RORC):c.73C>G (p.Gln25Glu) | 6097 | RORC | Uncertain significance | -1 | RCV003019918; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151789754 | 151789754 | | | NC_000001.10:g.151789754G>C | - | | |
NC_000001.10:g.(?_151801885)_(152287932_?)dup | 6097 | RORC | Uncertain significance | -1 | RCV003116304; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151801885 | 152287932 | | | | - | | |
NM_005060.4(RORC):c.70+19G>C | 6097 | RORC | Benign | 56945122 | RCV002132084; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151801886 | 151801886 | | | 151801886 | - | | |
NM_005060.4(RORC):c.70+16G>A | 6097 | RORC | Likely benign | 200230656 | RCV002175534; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151801889 | 151801889 | | | 151801889 | - | | |
NM_005060.4(RORC):c.70+12G>C | 6097 | RORC | Likely benign | 762818510 | RCV002212185; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151801893 | 151801893 | | | 151801893 | - | | |
NM_005060.4(RORC):c.67A>G (p.Thr23Ala) | 6097 | RORC | Uncertain significance | 1454953785 | RCV002043292; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151801908 | 151801908 | | | 151801908 | - | | |
NM_005060.4(RORC):c.64C>T (p.His22Tyr) | 6097 | RORC | Uncertain significance | 887739679 | RCV001371995; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151801911 | 151801911 | | | 151801911 | - | | |
NM_005060.4(RORC):c.41-17C>T | 6097 | RORC | Benign | 4845606 | RCV001511917|RCV003399274; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:CN169374 | 1 | 151801951 | 151801951 | | | 151801951 | - | | |
NM_005060.4(RORC):c.40+18dup | 6097 | RORC | Likely benign | 762476033 | RCV002157730; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804182 | 151804183 | | | 151804182 | - | | |
NM_005060.4(RORC):c.40+15G>C | 6097 | RORC | Likely benign | 781480838 | RCV002134717; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804186 | 151804186 | | | 151804186 | - | | |
NM_005060.4(RORC):c.40+12A>G | 6097 | RORC | Likely benign | 1000419663 | RCV002116871; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804189 | 151804189 | | | 151804189 | - | | |
NM_005060.4(RORC):c.40+7G>A | 6097 | RORC | Likely benign | -1 | RCV002720566; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804194 | 151804194 | | | NC_000001.10:g.151804194C>T | - | | |
NM_005060.4(RORC):c.40+1G>A | 6097 | RORC | Uncertain significance | 770900276 | RCV001069749; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804200 | 151804200 | | | 1:g.151804200C>T | - | | |
NM_005060.4(RORC):c.39G>T (p.Arg13=) | 6097 | RORC | Uncertain significance | -1 | RCV002842334; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804202 | 151804202 | | | | - | | |
NM_005060.4(RORC):c.38G>A (p.Arg13Gln) | 6097 | RORC | Uncertain significance | 201691098 | RCV001241332; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804203 | 151804203 | | | 1:g.151804203C>T | - | | |
NM_005060.4(RORC):c.37C>T (p.Arg13Trp) | 6097 | RORC | Uncertain significance | 745629463 | RCV001217232; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804204 | 151804204 | | | 1:g.151804204G>A | - | | |
NM_005060.4(RORC):c.35C>T (p.Ser12Leu) | 6097 | RORC | Uncertain significance | 199968527 | RCV001226853|RCV003414024; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857| | 1 | 151804206 | 151804206 | | | 1:g.151804206G>A | - | | |
NM_005060.4(RORC):c.33C>T (p.Ala11=) | 6097 | RORC | Benign | 151097632 | RCV000652793; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804208 | 151804208 | | | 1:g.151804208G>A | ClinGen:CA1096078 | C4225266 616622 Immunodeficiency 42; | |
NM_005060.4(RORC):c.30A>T (p.Arg10=) | 6097 | RORC | Likely benign | -1 | RCV002898638; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804211 | 151804211 | | | | - | | |
NM_005060.4(RORC):c.29G>A (p.Arg10Gln) | 6097 | RORC | Uncertain significance | 201874209 | RCV001894684|RCV002551034; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C0950123 | 1 | 151804212 | 151804212 | | | 151804212 | - | | |
NM_005060.4(RORC):c.28C>T (p.Arg10Ter) | 6097 | RORC | Likely benign | 17582155 | RCV000555512; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804213 | 151804213 | | | 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 | 764892778 | RCV000803780; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804221 | 151804221 | | | 1:g.151804221C>T | - | | |
NM_005060.4(RORC):c.14C>G (p.Pro5Arg) | 6097 | RORC | Uncertain significance | 201660295 | RCV001242920; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804227 | 151804227 | | | 1:g.151804227G>C | - | | |
NM_005060.4(RORC):c.8G>A (p.Arg3Lys) | 6097 | RORC | Uncertain significance | 1652427545 | RCV001047927; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857 | 1 | 151804233 | 151804233 | | | 1:g.151804233C>T | - | | |
NC_000001.10:g.(?_149895434)_(156851434_?)dup | -1 | subset of 230 genes: ASH1L:FLG:GATAD2B:LMNA:POGZ:S | Uncertain significance | -1 | RCV001958273|RCV001958271|RCV001992607|RCV003120769; | N | MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MONDO:MONDO:0014118,MedGen:C3809031,OMIM:615285, Orphanet:369852|MONDO:MONDO:0008855,MedGen:C2931418,OMIM:209920, Orphanet:572|MONDO:MONDO:0012548,MedGen:C5235141,OMIM:610738, Orphanet:99749 | 1 | 149895434 | 156851434 | | | -1 | - | | |