MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Immunologic Deficiency Syndromes (D007153)
..Starting node
..expand
IMMUNODEFICIENCY 42 (OMIM:616622)

       Child Nodes:



 Sister Nodes: 
..expandActivated PI3K-delta Syndrome (C585640)
..expandAgammaglobulinemia (D000361) Child19
..expandAntibody Deficiency due to Defect in CD19 (C566275)
..expandAtaxia Telangiectasia (D001260) Child6
..expandAUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandC1q DEFICIENCY (OMIM:613652)
..expandC9 Deficiency (C565165)
..expandC9 Deficiency with Dermatomyositis (C565166)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandCd4+ Lymphocyte Deficiency (C566079)
..expandCD8 Deficiency, Familial (C563824)
..expandCombined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..expandCombined Inflammatory and Immunologic Defect (C565684)
..expandCommon Variable Immunodeficiency (D017074)
..expandCOMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..expandComplement Component 3 Deficiency, Autosomal Recessive (C565169)
..expandComplement Component 4, Partial Deficiency Of (C565168)
..expandComplement Component 4a Deficiency (C565167)
..expandCOMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..expandComplement component 5 deficiency (C537005)
..expandComplement Component 6 Deficiency (C567307)
..expandComplement Component 7 Deficiency (C566443)
..expandCOMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..expandComplement Component C1s Deficiency (C565170)
..expandCOMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..expandComplement Factor D Deficiency (C565027)
..expandDavenport Donlan syndrome (C535988)
..expandDeltaretrovirus Infections (D006800) Child4
..expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..expandDysgammaglobulinemia (D004406) Child11
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEndotoxin Hyporesponsiveness (C566417)
..expandEnteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..expandERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..expandFACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..expandFanconi like syndrome (C536855)
..expandFICOLIN 3 DEFICIENCY (OMIM:613860)
..expandGriscelli syndrome type 2 (C537302)
..expandHepatic venoocclusive disease with immunodeficiency (C537257)
..expandHIV Infections (D015658) Child12
..expandHypoglobulinemia and Absent B Cells (C565765)
..expandImmune Deficiency Disease (C565469)
..expandImmune Deficiency, Familial Variable (C564136)
..expandIMMUNODEFICIENCY 11 (OMIM:615206)
..expandIMMUNODEFICIENCY 12 (OMIM:615468)
..expandIMMUNODEFICIENCY 14 (OMIM:615513)
..expandIMMUNODEFICIENCY 15B (OMIM:615592)
..expandIMMUNODEFICIENCY 16 (OMIM:615593)
..expandIMMUNODEFICIENCY 17 (OMIM:615607)
..expandIMMUNODEFICIENCY 18 (OMIM:615615)
..expandIMMUNODEFICIENCY 19 (OMIM:615617)
..expandIMMUNODEFICIENCY 20 (OMIM:615707)
..expandIMMUNODEFICIENCY 21 (OMIM:614172)
..expandIMMUNODEFICIENCY 22 (OMIM:615758)
..expandIMMUNODEFICIENCY 23 (OMIM:615816)
..expandIMMUNODEFICIENCY 24 (OMIM:615897)
..expandIMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..expandIMMUNODEFICIENCY 27B (OMIM:615978)
..expandIMMUNODEFICIENCY 28 (OMIM:614889)
..expandIMMUNODEFICIENCY 29 (OMIM:614890)
..expandIMMUNODEFICIENCY 30 (OMIM:614891)
..expandIMMUNODEFICIENCY 31A (OMIM:614892)
..expandIMMUNODEFICIENCY 31B (OMIM:613796)
..expandIMMUNODEFICIENCY 31C (OMIM:614162)
..expandIMMUNODEFICIENCY 32A (OMIM:614893)
..expandIMMUNODEFICIENCY 32B (OMIM:226990)
..expandIMMUNODEFICIENCY 36 (OMIM:616005)
..expandIMMUNODEFICIENCY 37 (OMIM:616098)
..expandIMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..expandIMMUNODEFICIENCY 39 (OMIM:616345)
..expandIMMUNODEFICIENCY 40 (OMIM:616433)
..expandIMMUNODEFICIENCY 42 (OMIM:616622)
..expandIMMUNODEFICIENCY 44 (OMIM:616636)
..expandIMMUNODEFICIENCY 45 (OMIM:616669)
..expandIMMUNODEFICIENCY 46 (OMIM:616740)
..expandIMMUNODEFICIENCY 47 (OMIM:300972)
..expandIMMUNODEFICIENCY 48 (OMIM:269840)
..expandIMMUNODEFICIENCY 49 (OMIM:617237)
..expandIMMUNODEFICIENCY 50 (OMIM:300988)
..expandIMMUNODEFICIENCY 51 (OMIM:613953)
..expandIMMUNODEFICIENCY 54 (OMIM:609981)
..expandIMMUNODEFICIENCY 56 (OMIM:615207)
..expandIMMUNODEFICIENCY 8 (OMIM:615401)
..expandImmunodeficiency due to Defect in CD3-Epsilon (C566082)
..expandImmunodeficiency due to Defect in CD3-Gamma (C566083)
..expandImmunodeficiency due to Defect in CD3-Zeta (C565712)
..expandImmunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..expandImmunodeficiency syndrome, variable (C537362) Child1
..expandImmunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..expandImmunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..expandImmunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..expandImmunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..expandImmunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..expandImmunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..expandIMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..expandInosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..expandInterleukin 2 Receptor, Alpha, Deficiency of (C565232)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..expandIRAK4 Deficiency (C564352)
..expandKappa-Chain Deficiency (C564131)
..expandKotzot-Richter syndrome (C537025)
..expandLeukocyte-Adhesion Deficiency Syndrome (D018370) Child2
..expandLichtenstein syndrome (C535894)
..expandLIG4 Syndrome (C564694)
..expandLUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..expandLymphoblastic Transformation, Intrinsic Defect in (C565431)
..expandLymphoid System Deterioration, Progressive (C565430)
..expandLymphokine Deficiency (C565428)
..expandLymphopenia (D008231) Child5
..expandLymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..expandMASP2 Deficiency (C565360)
..expandMYD88 Deficiency (C567379)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandNatural Killer Cell Deficiency, Familial Isolated (C566492)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNeutrophil Immunodeficiency Syndrome (C564275)
..expandPhagocyte Bactericidal Dysfunction (D010585) Child14
..expandProperdin Deficiency, Type II (C564075)
..expandProperdin Deficiency, Type III (C564076)
..expandRiddle Syndrome (C567453)
..expandRoifman syndrome (C535866)
..expandRoifman-Chitayat Syndrome (C567641)
..expandSchimke immunoosseous dysplasia (C536629)
..expandSevere Combined Immunodeficiency (D016511) Child22  LSDB C:1
..expandSevere Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..expandSplenic Hypoplasia (C563028)
..expandT cell immunodeficiency primary (C536780)
..expandT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..expandT-Cell OKT4 Deficiency (C566080)
..expandT-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..expandThumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..expandThymic aplasia (C536288)
..expandTuftsin Deficiency (C562872)
..expandWHIM syndrome (C536697)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6278
Name:IMMUNODEFICIENCY 42
Definition:
Alternative IDs:
ParentIDs:MESH:D007153
TreeNumbers:C20.673/616622
Synonyms:IMD42
Slim Mappings:Immune system disease
Reference: MedGen: 616622
MeSH: 616622
OMIM: 616622;
MSeqDR LSDB:  
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000778Hypoplasia of the thymus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005060.4(RORC):c.1545G>T (p.Gly515=)6097RORCUncertain significance199723679RCV000800954; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517799601517799601:g.151779960C>A-
NM_005060.4(RORC):c.1535C>G (p.Ser512Ter)6097RORCUncertain significance1420634082RCV001329360; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151779970151779970151779970-
NM_005060.4(RORC):c.1531G>A (p.Glu511Lys)6097RORCUncertain significance-1RCV003035310; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151779974151779974NC_000001.10:g.151779974C>T-
NM_005060.4(RORC):c.1530C>T (p.Thr510=)6097RORCBenign200482554RCV001522938; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151779975151779975151779975-
NM_005060.4(RORC):c.1512G>A (p.Glu504=)6097RORCLikely benign199556058RCV001495958; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151779993151779993151779993-
NM_005060.4(RORC):c.1490C>T (p.Ala497Val)6097RORCUncertain significance754827467RCV001037724; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517800151517800151:g.151780015G>A-
NM_005060.4(RORC):c.1489G>A (p.Ala497Thr)6097RORCUncertain significance-1RCV002634720; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780016151780016NC_000001.10:g.151780016C>T-
NM_005060.4(RORC):c.1488C>T (p.Ala496=)6097RORCLikely benign781238253RCV002065958; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517800171517800171:g.151780017G>A-
NM_005060.4(RORC):c.1488C>A (p.Ala496=)6097RORCUncertain significance781238253RCV001342714; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780017151780017151780017-
NM_005060.4(RORC):c.1485A>G (p.Gln495=)6097RORCLikely benign200884022RCV001910735; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780020151780020151780020-
NM_005060.4(RORC):c.1477G>A (p.Val493Met)6097RORCUncertain significance138308209RCV000238770|RCV001324956; NMedGen:CN169374|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780028151780028NC_000001.10:g.151780028C>TClinGen:CA1095644CN169374 not specified;
NM_005060.4(RORC):c.1468C>T (p.His490Tyr)6097RORCUncertain significance1323586530RCV001320181; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780037151780037151780037-
NM_005060.4(RORC):c.1464C>T (p.His488=)6097RORCLikely benign-1RCV002571758; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780041151780041-
NM_005060.4(RORC):c.1456T>A (p.Phe486Ile)6097RORCUncertain significance1572032352RCV000793258; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517800491517800491:g.151780049A>T-
NM_005060.4(RORC):c.1447C>G (p.Leu483Val)6097RORCUncertain significance1177503789RCV001981405; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780058151780058151780058-
NM_005060.4(RORC):c.1427G>C (p.Cys476Ser)6097RORCUncertain significance369382764RCV001307197; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780078151780078151780078-
NM_005060.4(RORC):c.1407G>C (p.Lys469Asn)6097RORCUncertain significance2101649238RCV002048024; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780098151780098151780098-
NM_005060.4(RORC):c.1406A>G (p.Lys469Arg)6097RORCBenign200531029RCV000884930; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517800991517800991:g.151780099T>C-
NM_005060.4(RORC):c.1404C>G (p.Pro468=)6097RORCLikely benign1040649839RCV002098181; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780101151780101151780101-
NM_005060.4(RORC):c.1401A>C (p.Pro467=)6097RORCLikely benign1572032393RCV001414151; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780104151780104151780104-
NM_005060.4(RORC):c.1396-4C>G6097RORCLikely benign2101649273RCV002137521; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780113151780113151780113-
NM_005060.4(RORC):c.1396-8A>G6097RORCLikely benign2101649279RCV002099240; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780117151780117151780117-
NM_005060.4(RORC):c.1396-20C>A6097RORCLikely benign-1RCV002811438; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151780129151780129NC_000001.10:g.151780129G>T-
NM_005060.4(RORC):c.1395+17G>A6097RORCLikely benign1651516366RCV001968525; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151783784151783784151783784-
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly)6097RORCBenign113195254RCV000958487|RCV001726389|RCV001702864; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:CN169374|MedGen:C366190011517838051517838051:g.151783805G>C-
NM_005060.4(RORC):c.1391C>T (p.Ala464Val)6097RORCUncertain significance113195254RCV001051336; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838051517838051:g.151783805G>A-
NM_005060.4(RORC):c.1358A>T (p.His453Leu)6097RORCUncertain significance200283675RCV001035431; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838381517838381:g.151783838T>A-
NM_005060.4(RORC):c.1356T>A (p.His452Gln)6097RORCUncertain significance200854121RCV001060896; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838401517838401:g.151783840A>T-
NM_005060.4(RORC):c.1334A>G (p.Asn445Ser)6097RORCLikely benign200556721RCV000915579; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838621517838621:g.151783862T>C-
NM_005060.4(RORC):c.1329G>A (p.Gln443=)6097RORCLikely benign144826157RCV001412184; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838671517838671:g.151783867C>T-
NM_005060.4(RORC):c.1328A>C (p.Gln443Pro)6097RORCUncertain significance911262602RCV000821977; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838681517838681:g.151783868T>G-
NM_005060.4(RORC):c.1321C>T (p.Gln441Ter)6097RORCPathogenic863225092RCV000201397; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838751517838751:g.151783875G>AClinGen:CA279248,OMIM:602943.0003C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1304A>G (p.Glu435Gly)6097RORCUncertain significance148168558RCV001205492; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517838921517838921:g.151783892T>C-
NM_005060.4(RORC):c.1288C>T (p.Arg430Trp)6097RORCUncertain significance1222050210RCV001370015; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151783908151783908151783908-
NM_005060.4(RORC):c.1286-10C>T6097RORCLikely benign769733906RCV001429250; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517839201517839201:g.151783920G>A-
NM_005060.4(RORC):c.1286-10C>G6097RORCLikely benign769733906RCV002102189; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151783920151783920151783920-
NM_005060.4(RORC):c.1286-11C>T6097RORCLikely benign987415040RCV002104538; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151783921151783921151783921-
NM_005060.4(RORC):c.1286-18T>A6097RORCLikely benign-1RCV002881212; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151783928151783928NC_000001.10:g.151783928A>T-
NM_005060.4(RORC):c.1285+8T>A6097RORCLikely benign2101655548RCV002190531; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785415151785415151785415-
NM_005060.4(RORC):c.1285C>T (p.His429Tyr)6097RORCUncertain significance202038919RCV000812904; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517854231517854231:g.151785423G>A-
NM_005060.4(RORC):c.1284C>A (p.Ala428=)6097RORCUncertain significance147363563RCV000808617; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517854241517854241:g.151785424G>T-
NM_005060.4(RORC):c.1267C>G (p.Leu423Val)6097RORCUncertain significance2101655603RCV001895420; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785441151785441151785441-
NM_005060.4(RORC):c.1250T>C (p.Ile417Thr)6097RORCUncertain significance1039869799RCV001880379; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785458151785458151785458-
NM_005060.4(RORC):c.1247A>G (p.Glu416Gly)6097RORCUncertain significance200523716RCV000652789; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517854611517854611:g.151785461T>CClinGen:CA30493011C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1239C>T (p.Ser413=)6097RORCLikely benign749314860RCV000914763; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517854691517854691:g.151785469G>A-
NM_005060.4(RORC):c.1227C>G (p.Ala409=)6097RORCLikely benign774691650RCV002086508; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785481151785481151785481-
NM_005060.4(RORC):c.1227C>T (p.Ala409=)6097RORCLikely benign-1RCV002631868; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785481151785481-
NM_005060.4(RORC):c.1225G>A (p.Ala409Thr)6097RORCUncertain significance-1RCV003027527; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785483151785483NC_000001.10:g.151785483C>T-
NM_005060.4(RORC):c.1198A>G (p.Ile400Val)6097RORCUncertain significance200134900RCV001906693; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785510151785510151785510-
NM_005060.4(RORC):c.1193G>C (p.Ser398Thr)6097RORCUncertain significance-1RCV002952725; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785515151785515NC_000001.10:g.151785515C>G-
NM_005060.4(RORC):c.1185G>A (p.Glu395=)6097RORCLikely benign2101655715RCV002133660; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785523151785523151785523-
NM_005060.4(RORC):c.1175-5A>T6097RORCLikely benign1651600339RCV002169472; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785538151785538151785538-
NM_005060.4(RORC):c.1174+15G>A6097RORCLikely benign372774021RCV002132599; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785700151785700151785700-
NM_005060.4(RORC):c.1174+15G>T6097RORCLikely benign-1RCV002701167; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785700151785700NC_000001.10:g.151785700C>A-
NM_005060.4(RORC):c.1174+9del6097RORCLikely benign-1RCV002863459; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785706151785706NC_000001.10:g.151785706del-
NM_005060.4(RORC):c.1165C>T (p.Arg389Ter)6097RORCLikely pathogenic-1RCV003337837; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785724151785724-
NM_005060.4(RORC):c.1142A>T (p.Lys381Ile)6097RORCUncertain significance1651610525RCV001239159; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517857471517857471:g.151785747T>A-
NM_005060.4(RORC):c.1125G>A (p.Thr375=)6097RORCLikely benign201953038RCV000652791; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517857641517857641:g.151785764C>TClinGen:CA1095746C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1125G>T (p.Thr375=)6097RORCLikely benign201953038RCV001502032; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785764151785764151785764-
NM_005060.4(RORC):c.1124C>T (p.Thr375Met)6097RORCUncertain significance757895511RCV001872701|RCV002551137; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C09501231151785765151785765151785765-
NM_005060.4(RORC):c.1121G>A (p.Arg374His)6097RORCUncertain significance200446012RCV001929241; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785768151785768151785768-
NM_005060.4(RORC):c.1120C>T (p.Arg374Cys)6097RORCUncertain significance-1RCV003092104; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785769151785769NC_000001.10:g.151785769G>A-
NM_005060.4(RORC):c.1118A>G (p.Asn373Ser)6097RORCUncertain significance201629608RCV001071141|RCV003413895; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|11517857711517857711:g.151785771T>C-
NM_005060.4(RORC):c.1101G>A (p.Arg367=)6097RORCLikely benign1185658864RCV001418519; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785788151785788151785788-
NM_005060.4(RORC):c.1099C>G (p.Arg367Gly)6097RORCUncertain significance1572036408RCV000803819; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517857901517857901:g.151785790G>C-
NM_005060.4(RORC):c.1098C>T (p.Cys366=)6097RORCLikely benign-1RCV002571142; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785791151785791-
NM_005060.4(RORC):c.1089T>C (p.Val363=)6097RORCBenign199641073RCV001516586; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785800151785800151785800-
NM_005060.4(RORC):c.1086G>C (p.Leu362=)6097RORCLikely benign369002008RCV001398427; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517858031517858031:g.151785803C>G-
NM_005060.4(RORC):c.1070C>T (p.Ala357Val)6097RORCLikely benign139551639RCV000652787; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517858191517858191:g.151785819G>AClinGen:CA1095758C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1067-4C>A6097RORCBenign199838177RCV000918166; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517858261517858261:g.151785826G>T-
NM_005060.4(RORC):c.1067-13C>T6097RORCLikely benign2101656219RCV002102328; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785835151785835151785835-
NM_005060.4(RORC):c.1066+18G>A6097RORCUncertain significance-1RCV002800098; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785946151785946NC_000001.10:g.151785946C>T-
NM_005060.4(RORC):c.1062A>G (p.Lys354=)6097RORCUncertain significance2101656406RCV001908650; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785968151785968151785968-
NM_005060.4(RORC):c.1045C>A (p.Gln349Lys)6097RORCUncertain significance-1RCV002649809; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785985151785985NC_000001.10:g.151785985G>T-
NM_005060.4(RORC):c.1032C>T (p.Leu344=)6097RORCLikely benign-1RCV003058605; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151785998151785998-
NM_005060.4(RORC):c.1014C>T (p.Leu338=)6097RORCLikely benign1001402492RCV001464709; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786016151786016151786016-
NM_005060.4(RORC):c.1003G>T (p.Ala335Ser)6097RORCUncertain significance1651625342RCV001036223; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517860271517860271:g.151786027C>A-
NM_005060.4(RORC):c.1002C>T (p.Phe334=)6097RORCLikely benign745845256RCV002100746; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786028151786028151786028-
NM_005060.4(RORC):c.992T>C (p.Val331Ala)6097RORCUncertain significance2101656505RCV001929134; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786038151786038151786038-
NM_005060.4(RORC):c.990C>T (p.Tyr330=)6097RORCBenign/Likely benign61754474RCV000652792|RCV001703228; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:C36619001151786040151786040NC_000001.10:g.151786040G>AClinGen:CA1095777C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.987G>A (p.Gln329=)6097RORCLikely benign1572036625RCV001416697; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517860431517860431:g.151786043C>T-
NM_005060.4(RORC):c.985C>T (p.Gln329Ter)6097RORCPathogenic863225091RCV000201359; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517860451517860451:g.151786045G>AClinGen:CA279219,OMIM:602943.0002C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.975C>T (p.Thr325=)6097RORCLikely benign191835080RCV002191223; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786055151786055151786055-
NM_005060.4(RORC):c.965A>G (p.His322Arg)6097RORCUncertain significance-1RCV002919208; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786065151786065NC_000001.10:g.151786065T>C-
NM_005060.4(RORC):c.960T>C (p.Cys320=)6097RORCBenign147748693RCV001518527; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786070151786070151786070-
NM_005060.4(RORC):c.955C>A (p.Arg319=)6097RORCLikely benign765568492RCV001464761; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786075151786075151786075-
NM_005060.4(RORC):c.934-1G>A6097RORCLikely pathogenic2101656625RCV001379824; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786097151786097151786097-
NM_005060.4(RORC):c.934-6C>T6097RORCLikely benign-1RCV002710263; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786102151786102NC_000001.10:g.151786102G>A-
NM_005060.4(RORC):c.821_933+84del6097RORCUncertain significance-1RCV003336044; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151786966151787162-
NM_005060.4(RORC):c.933+13G>A6097RORCLikely benign141521274RCV002125240; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787037151787037151787037-
NM_005060.4(RORC):c.931A>C (p.Lys311Gln)6097RORCUncertain significance1651672789RCV001197549; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517870521517870521:g.151787052T>G-
NM_005060.4(RORC):c.916A>T (p.Thr306Ser)6097RORCUncertain significance-1RCV002618679; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787067151787067NC_000001.10:g.151787067T>A-
NM_005060.4(RORC):c.905G>A (p.Arg302Gln)6097RORCUncertain significance758239791RCV001307723; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787078151787078151787078-
NM_005060.4(RORC):c.903C>G (p.Ser301=)6097RORCLikely benign-1RCV002635385; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787080151787080-
NM_005060.4(RORC):c.888C>T (p.Arg296=)6097RORCLikely benign200455794RCV000939034; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517870951517870951:g.151787095G>A-
NM_005060.4(RORC):c.887G>A (p.Arg296His)6097RORCUncertain significance-1RCV002634792; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787096151787096NC_000001.10:g.151787096C>T-
NM_005060.4(RORC):c.880C>T (p.Arg294Trp)6097RORCUncertain significance749576267RCV001298892; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787103151787103151787103-
NM_005060.4(RORC):c.864G>A (p.Arg288=)6097RORCLikely benign138886588RCV001465778; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787119151787119151787119-
NM_005060.4(RORC):c.863G>A (p.Arg288Gln)6097RORCUncertain significance997157586RCV002042786|RCV002642133; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C09501231151787120151787120151787120-
NM_005060.4(RORC):c.858G>T (p.Gln286His)6097RORCUncertain significance760810577RCV001960185; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787125151787125151787125-
NM_005060.4(RORC):c.858G>A (p.Gln286=)6097RORCLikely benign760810577RCV002162516; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787125151787125151787125-
NM_005060.4(RORC):c.855C>T (p.Cys285=)6097RORCLikely benign-1RCV003065656; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787128151787128-
NM_005060.4(RORC):c.852A>T (p.Thr284=)6097RORCLikely benign200695270RCV001394609; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787131151787131151787131-
NM_005060.4(RORC):c.843C>T (p.Tyr281=)6097RORCLikely benign1401597728RCV002076926; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787140151787140151787140-
NM_005060.4(RORC):c.829G>A (p.Val277Ile)6097RORCUncertain significance201219763RCV001952843; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787154151787154151787154-
NM_005060.4(RORC):c.828C>T (p.Ser276=)6097RORCLikely benign150459022RCV001405990; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517871551517871551:g.151787155G>A-
NM_005060.4(RORC):c.814C>T (p.His272Tyr)6097RORCUncertain significance-1RCV003048523; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787169151787169NC_000001.10:g.151787169G>A-
NM_005060.4(RORC):c.812-8G>A6097RORCUncertain significance755681607RCV001971945; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787179151787179151787179-
NM_005060.4(RORC):c.812-9C>T6097RORCBenign201629576RCV001513975; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787180151787180151787180-
NM_005060.4(RORC):c.811+18T>C6097RORCLikely benign-1RCV002640278; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787371151787371NC_000001.10:g.151787371A>G-
NM_005060.4(RORC):c.811+12G>A6097RORCLikely benign-1RCV002711625; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787377151787377NC_000001.10:g.151787377C>T-
NM_005060.4(RORC):c.811+9C>G6097RORCLikely benign201144886RCV001872614; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787380151787380151787380-
NM_005060.4(RORC):c.803C>G (p.Thr268Arg)6097RORCUncertain significance-1RCV002824301; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787397151787397NC_000001.10:g.151787397G>C-
NM_005060.4(RORC):c.780G>A (p.Pro260=)6097RORCLikely benign1010853863RCV001461842; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787420151787420151787420-
NM_005060.4(RORC):c.779C>T (p.Pro260Leu)6097RORCUncertain significance1209731485RCV001915232; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787421151787421151787421-
NM_005060.4(RORC):c.770G>A (p.Arg257His)6097RORCUncertain significance746187982RCV001367080; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787430151787430151787430-
NM_005060.4(RORC):c.769C>T (p.Arg257Cys)6097RORCUncertain significance-1RCV003093685; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787431151787431NC_000001.10:g.151787431G>A-
NM_005060.4(RORC):c.754G>A (p.Gly252Ser)6097RORCUncertain significance200227947RCV000819503; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517874461517874461:g.151787446C>T-
NM_005060.4(RORC):c.749G>A (p.Ser250Asn)6097RORCLikely benign41263732RCV000529290|RCV003409825; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:C366190011517874511517874511:g.151787451C>TClinGen:CA1095865C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.737A>C (p.Gln246Pro)6097RORCUncertain significance199793998RCV001056447; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517874631517874631:g.151787463T>G-
NM_005060.4(RORC):c.719G>A (p.Gly240Glu)6097RORCUncertain significance2101658675RCV001954309; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787481151787481151787481-
NM_005060.4(RORC):c.718G>A (p.Gly240Arg)6097RORCUncertain significance-1RCV003084873; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787482151787482NC_000001.10:g.151787482C>T-
NM_005060.4(RORC):c.718G>C (p.Gly240Arg)6097RORCUncertain significance-1RCV002819204; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787482151787482NC_000001.10:g.151787482C>G-
NM_005060.4(RORC):c.711G>T (p.Arg237Ser)6097RORCUncertain significance144219320RCV001041366; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517874891517874891:g.151787489C>A-
NM_005060.4(RORC):c.711G>A (p.Arg237=)6097RORCLikely benign144219320RCV002080311|RCV002156716; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:C36619001151787489151787489151787489-
NM_005060.4(RORC):c.708C>T (p.His236=)6097RORCLikely benign1572037999RCV000935620; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517874921517874921:g.151787492G>A-
NM_005060.4(RORC):c.697T>C (p.Phe233Leu)6097RORCUncertain significance1007714530RCV001203894; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517875031517875031:g.151787503A>G-
NM_005060.4(RORC):c.694C>T (p.Arg232Cys)6097RORCUncertain significance199550478RCV000795736; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517875061517875061:g.151787506G>A-
NM_005060.4(RORC):c.686G>A (p.Cys229Tyr)6097RORCUncertain significance1312874608RCV001058561; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517875141517875141:g.151787514C>T-
NM_005060.4(RORC):c.683G>A (p.Arg228Gln)6097RORCUncertain significance200978307RCV001884123; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787517151787517151787517-
NM_005060.4(RORC):c.675C>G (p.Thr225=)6097RORCLikely benign147153922RCV001461713; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517875251517875251:g.151787525G>C-
NM_005060.4(RORC):c.675C>A (p.Thr225=)6097RORCLikely benign-1RCV002575191; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787525151787525-
NM_005060.4(RORC):c.662G>A (p.Gly221Asp)6097RORCUncertain significance-1RCV003065168; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787538151787538NC_000001.10:g.151787538C>T-
NM_005060.4(RORC):c.661G>A (p.Gly221Ser)6097RORCUncertain significance-1RCV002903394; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787539151787539NC_000001.10:g.151787539C>T-
NM_005060.4(RORC):c.634G>A (p.Glu212Lys)6097RORCUncertain significance2101658846RCV001865031; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787566151787566151787566-
NM_005060.4(RORC):c.623G>A (p.Arg208Gln)6097RORCUncertain significance199657854RCV001343877|RCV003169657; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C09501231151787577151787577151787577-
NM_005060.4(RORC):c.622C>A (p.Arg208=)6097RORCLikely benign187005517RCV000881854; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517875781517875781:g.151787578G>T-
NM_005060.4(RORC):c.612C>T (p.Tyr204=)6097RORCLikely benign529684150RCV000907051; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517875881517875881:g.151787588G>A-
NM_005060.4(RORC):c.598T>C (p.Cys200Arg)6097RORCUncertain significance375293231RCV000794337; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517876021517876021:g.151787602A>G-
NM_005060.4(RORC):c.596C>T (p.Ser199Leu)6097RORCUncertain significance-1RCV002943102; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787604151787604NC_000001.10:g.151787604G>A-
NM_005060.4(RORC):c.595T>C (p.Ser199Pro)6097RORCUncertain significance1161656885RCV000652788; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517876051517876051:g.151787605A>GClinGen:CA342016499C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.587A>G (p.Asn196Ser)6097RORCUncertain significance201163910RCV002030659; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787613151787613151787613-
NM_005060.4(RORC):c.586A>C (p.Asn196His)6097RORCUncertain significance1465721781RCV001962064; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787614151787614151787614-
NM_005060.4(RORC):c.580G>A (p.Gly194Arg)6097RORCUncertain significance1651707381RCV001201430; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517876201517876201:g.151787620C>T-
NM_005060.4(RORC):c.560C>G (p.Ser187Cys)6097RORCUncertain significance749461528RCV000797903|RCV003243305; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C095012311517876401517876401:g.151787640G>C-
NM_005060.4(RORC):c.558T>C (p.Tyr186=)6097RORCLikely benign199888370RCV002129381; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787642151787642151787642-
NM_005060.4(RORC):c.542G>C (p.Gly181Ala)6097RORCUncertain significance774465877RCV001874079; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787658151787658151787658-
NM_005060.4(RORC):c.517C>T (p.Pro173Ser)6097RORCUncertain significance-1RCV002991368; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787683151787683NC_000001.10:g.151787683G>A-
NM_005060.4(RORC):c.498G>A (p.Leu166=)6097RORCLikely benign-1RCV002690881; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787702151787702-
NM_005060.4(RORC):c.494A>G (p.Asp165Gly)6097RORCUncertain significance-1RCV002988801; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787706151787706NC_000001.10:g.151787706T>C-
NM_005060.4(RORC):c.489G>A (p.Ser163=)6097RORCBenign146520783RCV000652790; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517877111517877111:g.151787711C>TClinGen:CA1095911C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.485C>T (p.Ser162Phe)6097RORCUncertain significance-1RCV003039623; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787715151787715NC_000001.10:g.151787715G>A-
NM_005060.4(RORC):c.471G>A (p.Gln157=)6097RORCLikely benign200282601RCV001404416; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787729151787729151787729-
NM_005060.4(RORC):c.466G>A (p.Gly156Arg)6097RORCUncertain significance200851190RCV001211656; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517877341517877341:g.151787734C>T-
NM_005060.4(RORC):c.465C>T (p.Asp155=)6097RORCLikely benign768035028RCV000916735; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517877351517877351:g.151787735G>A-
NM_005060.4(RORC):c.455G>C (p.Gly152Ala)6097RORCUncertain significance1651714174RCV002018678; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787745151787745151787745-
NM_005060.4(RORC):c.438C>T (p.Thr146=)6097RORCLikely benign200609284RCV002104010; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787762151787762151787762-
NM_005060.4(RORC):c.429A>G (p.Gly143=)6097RORCLikely benign-1RCV002871035; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787771151787771-
NM_005060.4(RORC):c.422C>T (p.Ala141Val)6097RORCUncertain significance201494136RCV000122518|RCV001065352; NMedGen:CN517202|MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517877781517877781:g.151787778G>AClinGen:CA232248CN517202 not provided;
NM_005060.4(RORC):c.420G>A (p.Gly140=)6097RORCLikely benign746113101RCV001429727; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787780151787780151787780-
NM_005060.4(RORC):c.407C>A (p.Thr136Asn)6097RORCUncertain significance747949898RCV001224003; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517877931517877931:g.151787793G>T-
NM_005060.4(RORC):c.405G>A (p.Lys135=)6097RORCLikely benign-1RCV002730373; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787795151787795-
NM_005060.4(RORC):c.395C>G (p.Pro132Arg)6097RORCUncertain significance762477159RCV001863743; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787805151787805151787805-
NM_005060.4(RORC):c.394C>T (p.Pro132Ser)6097RORCUncertain significance770398960RCV001058345; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517878061517878061:g.151787806G>A-
NM_005060.4(RORC):c.394C>A (p.Pro132Thr)6097RORCUncertain significance-1RCV003081812; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787806151787806NC_000001.10:g.151787806G>T-
NM_005060.4(RORC):c.382C>G (p.Gln128Glu)6097RORCUncertain significance774023701RCV001338871; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787818151787818151787818-
NM_005060.4(RORC):c.378A>G (p.Gln126=)6097RORCLikely benign1208318421RCV001472149; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787822151787822151787822-
NM_005060.4(RORC):c.374G>A (p.Arg125Gln)6097RORCUncertain significance200303989RCV001219986; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517878261517878261:g.151787826C>T-
NM_005060.4(RORC):c.373C>T (p.Arg125Trp)6097RORCUncertain significance767984181RCV001964790; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787827151787827151787827-
NM_005060.4(RORC):c.370C>G (p.Gln124Glu)6097RORCUncertain significance-1RCV003072450; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787830151787830NC_000001.10:g.151787830G>C-
NM_005060.4(RORC):c.354G>A (p.Val118=)6097RORCLikely benign-1RCV002954304; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787846151787846-
NM_005060.4(RORC):c.334G>A (p.Asp112Asn)6097RORCUncertain significance1651719747RCV001219781; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517878661517878661:g.151787866C>T-
NM_005060.4(RORC):c.327G>A (p.Lys109=)6097RORCLikely benign376651505RCV001401552; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787873151787873151787873-
NM_005060.4(RORC):c.313C>T (p.Arg105Cys)6097RORCUncertain significance-1RCV002790415; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787887151787887NC_000001.10:g.151787887G>A-
NM_005060.4(RORC):c.312C>T (p.Gly104=)6097RORCLikely benign1572038507RCV001480137; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517878881517878881:g.151787888G>A-
NM_005060.4(RORC):c.299-14T>C6097RORCLikely benign-1RCV003082885; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787915151787915NC_000001.10:g.151787915A>G-
NM_005060.4(RORC):c.299-16C>T6097RORCLikely benign-1RCV002792134; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151787917151787917NC_000001.10:g.151787917G>A-
NM_005060.4(RORC):c.298+16_298+17del6097RORCLikely benign772506661RCV002181235; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789123151789124151789122-
NM_005060.4(RORC):c.298+13C>T6097RORCLikely benign200047866RCV002203798; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789127151789127151789127-
NM_005060.4(RORC):c.291C>T (p.Ser97=)6097RORCLikely benign1213683561RCV002181885; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789147151789147151789147-
NM_005060.4(RORC):c.282G>A (p.Leu94=)6097RORCLikely benign1651764815RCV002148377; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789156151789156151789156-
NM_005060.4(RORC):c.279G>A (p.Ala93=)6097RORCLikely benign201334909RCV000936250; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517891591517891591:g.151789159C>T-
NM_005060.4(RORC):c.264G>A (p.Leu88=)6097RORCLikely benign901597268RCV001403536; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789174151789174151789174-
NM_005060.4(RORC):c.253C>T (p.His85Tyr)6097RORCUncertain significance142141845RCV000707497; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517891851517891851:g.151789185G>A-C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.245G>A (p.Arg82Gln)6097RORCUncertain significance200944681RCV000792128|RCV003166089; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C095012311517891931517891931:g.151789193C>T-
NM_005060.4(RORC):c.240A>G (p.Arg80=)6097RORCLikely benign368393221RCV002116933; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789198151789198151789198-
NM_005060.4(RORC):c.239G>A (p.Arg80Gln)6097RORCUncertain significance1651766753RCV001936441; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789199151789199151789199-
NM_005060.4(RORC):c.231C>T (p.Arg77=)6097RORCLikely benign2101661397RCV002168480; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789207151789207151789207-
NM_005060.4(RORC):c.226G>A (p.Asp76Asn)6097RORCUncertain significance751829653RCV001034822; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517892121517892121:g.151789212C>T-
NM_005060.4(RORC):c.203C>T (p.Thr68Ile)6097RORCUncertain significance-1RCV002800192; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789235151789235NC_000001.10:g.151789235G>A-
NM_005060.4(RORC):c.201C>T (p.Cys67=)6097RORCLikely benign749237284RCV001415171; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789237151789237151789237-
NM_005060.4(RORC):c.198C>G (p.Ser66=)6097RORCLikely benign199891898RCV001471943; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517892401517892401:g.151789240G>C-
NM_005060.4(RORC):c.189G>A (p.Ala63=)6097RORCLikely benign778919253RCV002188878; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789249151789249151789249-
NM_005060.4(RORC):c.188C>T (p.Ala63Val)6097RORCUncertain significance143596741RCV001312664; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789250151789250151789250-
NM_005060.4(RORC):c.187G>A (p.Ala63Thr)6097RORCUncertain significance201373806RCV001204415; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517892511517892511:g.151789251C>T-
NM_005060.4(RORC):c.186C>T (p.Asn62=)6097RORCBenign34830957RCV000540237; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789252151789252NC_000001.10:g.151789252G>AClinGen:CA1095968C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.177G>C (p.Gln59His)6097RORCUncertain significance200449406RCV000819406; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517892611517892611:g.151789261C>G-
NM_005060.4(RORC):c.157-10C>T6097RORCLikely benign201345613RCV001480132; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517892911517892911:g.151789291G>A-
NM_005060.4(RORC):c.156+24A>C6097RORCBenign12144914RCV001794914|RCV003401720; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:CN1693741151789647151789647151789647-
NM_005060.4(RORC):c.156+20A>C6097RORCLikely benign-1RCV003092468; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789651151789651NC_000001.10:g.151789651T>G-
NM_005060.4(RORC):c.156+17dup6097RORCLikely benign-1RCV003098906; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789653151789654NC_000001.10:g.151789654dup-
NM_005060.4(RORC):c.156+15T>C6097RORCLikely benign2101662370RCV002092752; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789656151789656151789656-
NM_005060.4(RORC):c.156+9T>C6097RORCLikely benign1373753591RCV001471186; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789662151789662151789662-
NM_005060.4(RORC):c.129C>T (p.Tyr43=)6097RORCLikely benign-1RCV003076563; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789698151789698-
NM_005060.4(RORC):c.114G>A (p.Ser38=)6097RORCLikely benign201478663RCV001430044; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789713151789713151789713-
NM_005060.4(RORC):c.113C>T (p.Ser38Leu)6097RORCPathogenic774357869RCV000201419; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711517897141517897141:g.151789714G>AClinGen:CA210235,UniProtKB:P51449#VAR_073725,OMIM:602943.0001C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.108C>T (p.Asp36=)6097RORCLikely benign759669408RCV002179742; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789719151789719151789719-
NM_005060.4(RORC):c.105G>A (p.Gly35=)6097RORCLikely benign199920990RCV002158654; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789722151789722151789722-
NM_005060.4(RORC):c.83T>G (p.Val28Gly)6097RORCUncertain significance2101662490RCV001942665; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789744151789744151789744-
NM_005060.4(RORC):c.73C>G (p.Gln25Glu)6097RORCUncertain significance-1RCV003019918; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151789754151789754NC_000001.10:g.151789754G>C-
NC_000001.10:g.(?_151801885)_(152287932_?)dup6097RORCUncertain significance-1RCV003116304; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151801885152287932-
NM_005060.4(RORC):c.70+19G>C6097RORCBenign56945122RCV002132084; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151801886151801886151801886-
NM_005060.4(RORC):c.70+16G>A6097RORCLikely benign200230656RCV002175534; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151801889151801889151801889-
NM_005060.4(RORC):c.70+12G>C6097RORCLikely benign762818510RCV002212185; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151801893151801893151801893-
NM_005060.4(RORC):c.67A>G (p.Thr23Ala)6097RORCUncertain significance1454953785RCV002043292; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151801908151801908151801908-
NM_005060.4(RORC):c.64C>T (p.His22Tyr)6097RORCUncertain significance887739679RCV001371995; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151801911151801911151801911-
NM_005060.4(RORC):c.41-17C>T6097RORCBenign4845606RCV001511917|RCV003399274; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MedGen:CN1693741151801951151801951151801951-
NM_005060.4(RORC):c.40+18dup6097RORCLikely benign762476033RCV002157730; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151804182151804183151804182-
NM_005060.4(RORC):c.40+15G>C6097RORCLikely benign781480838RCV002134717; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151804186151804186151804186-
NM_005060.4(RORC):c.40+12A>G6097RORCLikely benign1000419663RCV002116871; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151804189151804189151804189-
NM_005060.4(RORC):c.40+7G>A6097RORCLikely benign-1RCV002720566; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151804194151804194NC_000001.10:g.151804194C>T-
NM_005060.4(RORC):c.40+1G>A6097RORCUncertain significance770900276RCV001069749; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711518042001518042001:g.151804200C>T-
NM_005060.4(RORC):c.39G>T (p.Arg13=)6097RORCUncertain significance-1RCV002842334; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151804202151804202-
NM_005060.4(RORC):c.38G>A (p.Arg13Gln)6097RORCUncertain significance201691098RCV001241332; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711518042031518042031:g.151804203C>T-
NM_005060.4(RORC):c.37C>T (p.Arg13Trp)6097RORCUncertain significance745629463RCV001217232; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711518042041518042041:g.151804204G>A-
NM_005060.4(RORC):c.35C>T (p.Ser12Leu)6097RORCUncertain significance199968527RCV001226853|RCV003414024; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|11518042061518042061:g.151804206G>A-
NM_005060.4(RORC):c.33C>T (p.Ala11=)6097RORCBenign151097632RCV000652793; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711518042081518042081:g.151804208G>AClinGen:CA1096078C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.30A>T (p.Arg10=)6097RORCLikely benign-1RCV002898638; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151804211151804211-
NM_005060.4(RORC):c.29G>A (p.Arg10Gln)6097RORCUncertain significance201874209RCV001894684|RCV002551034; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:477857|MeSH:D030342,MedGen:C09501231151804212151804212151804212-
NM_005060.4(RORC):c.28C>T (p.Arg10Ter)6097RORCLikely benign17582155RCV000555512; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:4778571151804213151804213NC_000001.10:g.151804213G>AClinGen:CA1096081C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.20G>A (p.Arg7Lys)6097RORCUncertain significance764892778RCV000803780; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711518042211518042211:g.151804221C>T-
NM_005060.4(RORC):c.14C>G (p.Pro5Arg)6097RORCUncertain significance201660295RCV001242920; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711518042271518042271:g.151804227G>C-
NM_005060.4(RORC):c.8G>A (p.Arg3Lys)6097RORCUncertain significance1652427545RCV001047927; NMONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622, Orphanet:47785711518042331518042331:g.151804233C>T-
NC_000001.10:g.(?_149895434)_(156851434_?)dup-1subset of 230 genes: ASH1L:FLG:GATAD2B:LMNA:POGZ:SUncertain significance-1RCV001958273|RCV001958271|RCV001992607|RCV003120769; NMONDO: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:997491149895434156851434-1-
MSeqDR Portal