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 significancers199723679RCV000800954; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151779960151779960CA1:g.151779960C>A-
NM_005060.4(RORC):c.1490C>T (p.Ala497Val)6097RORCUncertain significance-1RCV001037724; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151780015151780015GA1:g.151780015G>A-
NM_005060.4(RORC):c.1456T>A (p.Phe486Ile)6097RORCUncertain significancers1572032352RCV000793258; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151780049151780049AT1:g.151780049A>T-
NM_005060.4(RORC):c.1406A>G (p.Lys469Arg)6097RORCBenignrs200531029RCV000884930; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151780099151780099TC1:g.151780099T>C-
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly)6097RORCBenignrs113195254RCV000958487; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783805151783805GC1:g.151783805G>C-
NM_005060.4(RORC):c.1391C>T (p.Ala464Val)6097RORCUncertain significance-1RCV001051336; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783805151783805GA1:g.151783805G>A-
NM_005060.4(RORC):c.1358A>T (p.His453Leu)6097RORCUncertain significance-1RCV001035431; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783838151783838TA1:g.151783838T>A-
NM_005060.4(RORC):c.1356T>A (p.His452Gln)6097RORCUncertain significance-1RCV001060896; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783840151783840AT1:g.151783840A>T-
NM_005060.4(RORC):c.1334A>G (p.Asn445Ser)6097RORCLikely benignrs200556721RCV000915579; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783862151783862TC1:g.151783862T>C-
NM_005060.4(RORC):c.1328A>C (p.Gln443Pro)6097RORCUncertain significancers911262602RCV000821977; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783868151783868TG1:g.151783868T>G-
NM_005060.4(RORC):c.1321C>T (p.Gln441Ter)6097RORCPathogenicrs863225092RCV000201397; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783875151783875GA1:g.151783875G>AClinGen:CA279248,OMIM:602943.0003C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1304A>G (p.Glu435Gly)6097RORCUncertain significance-1RCV001205492; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151783892151783892TC1:g.151783892T>C-
NM_005060.4(RORC):c.1285C>T (p.His429Tyr)6097RORCUncertain significancers202038919RCV000812904; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785423151785423GA1:g.151785423G>A-
NM_005060.4(RORC):c.1284C>A (p.Ala428=)6097RORCUncertain significancers147363563RCV000808617; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785424151785424GT1:g.151785424G>T-
NM_005060.4(RORC):c.1247A>G (p.Glu416Gly)6097RORCUncertain significancers200523716RCV000652789; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785461151785461TC1:g.151785461T>CClinGen:CA30493011C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1239C>T (p.Ser413=)6097RORCLikely benignrs749314860RCV000914763; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785469151785469GA1:g.151785469G>A-
NM_005060.4(RORC):c.1142A>T (p.Lys381Ile)6097RORCUncertain significance-1RCV001239159; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785747151785747TA1:g.151785747T>A-
NM_005060.4(RORC):c.1125G>A (p.Thr375=)6097RORCLikely benignrs201953038RCV000652791; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785764151785764CT1:g.151785764C>TClinGen:CA1095746C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1118A>G (p.Asn373Ser)6097RORCUncertain significance-1RCV001071141; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785771151785771TC1:g.151785771T>C-
NM_005060.4(RORC):c.1099C>G (p.Arg367Gly)6097RORCUncertain significancers1572036408RCV000803819; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785790151785790GC1:g.151785790G>C-
NM_005060.4(RORC):c.1070C>T (p.Ala357Val)6097RORCLikely benignrs139551639RCV000652787; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785819151785819GA1:g.151785819G>AClinGen:CA1095758C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1067-4C>A6097RORCBenignrs199838177RCV000918166; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151785826151785826GT1:g.151785826G>T-
NM_005060.4(RORC):c.1003G>T (p.Ala335Ser)6097RORCUncertain significance-1RCV001036223; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151786027151786027CA1:g.151786027C>A-
NM_005060.4(RORC):c.990C>T (p.Tyr330=)6097RORCBenignrs61754474RCV000652792; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151786040151786040GA1:g.151786040G>AClinGen:CA1095777
NM_005060.4(RORC):c.985C>T (p.Gln329Ter)6097RORCPathogenicrs863225091RCV000201359; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151786045151786045GA1:g.151786045G>AClinGen:CA279219,OMIM:602943.0002C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.931A>C (p.Lys311Gln)6097RORCUncertain significance-1RCV001197549; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787052151787052TG1:g.151787052T>G-
NM_005060.4(RORC):c.888C>T (p.Arg296=)6097RORCLikely benignrs200455794RCV000939034; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787095151787095GA1:g.151787095G>A-
NM_005060.4(RORC):c.754G>A (p.Gly252Ser)6097RORCUncertain significancers200227947RCV000819503; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787446151787446CT1:g.151787446C>T-
NM_005060.4(RORC):c.749G>A (p.Ser250Asn)6097RORCLikely benignrs41263732RCV000529290; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787451151787451CT1:g.151787451C>TClinGen:CA1095865C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.737A>C (p.Gln246Pro)6097RORCUncertain significance-1RCV001056447; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787463151787463TG1:g.151787463T>G-
NM_005060.4(RORC):c.711G>T (p.Arg237Ser)6097RORCUncertain significance-1RCV001041366; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787489151787489CA1:g.151787489C>A-
NM_005060.4(RORC):c.708C>T (p.His236=)6097RORCLikely benignrs1572037999RCV000935620; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787492151787492GA1:g.151787492G>A-
NM_005060.4(RORC):c.697T>C (p.Phe233Leu)6097RORCUncertain significance-1RCV001203894; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787503151787503AG1:g.151787503A>G-
NM_005060.4(RORC):c.694C>T (p.Arg232Cys)6097RORCUncertain significancers199550478RCV000795736; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787506151787506GA1:g.151787506G>A-
NM_005060.4(RORC):c.686G>A (p.Cys229Tyr)6097RORCUncertain significance-1RCV001058561; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787514151787514CT1:g.151787514C>T-
NM_005060.4(RORC):c.622C>A (p.Arg208=)6097RORCLikely benignrs187005517RCV000881854; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787578151787578GT1:g.151787578G>T-
NM_005060.4(RORC):c.612C>T (p.Tyr204=)6097RORCLikely benignrs529684150RCV000907051; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787588151787588GA1:g.151787588G>A-
NM_005060.4(RORC):c.598T>C (p.Cys200Arg)6097RORCUncertain significancers375293231RCV000794337; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787602151787602AG1:g.151787602A>G-
NM_005060.4(RORC):c.595T>C (p.Ser199Pro)6097RORCUncertain significancers1161656885RCV000652788; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787605151787605AG1:g.151787605A>GClinGen:CA342016499C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.580G>A (p.Gly194Arg)6097RORCUncertain significance-1RCV001201430; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787620151787620CT1:g.151787620C>T-
NM_005060.4(RORC):c.560C>G (p.Ser187Cys)6097RORCUncertain significancers749461528RCV000797903; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787640151787640GC1:g.151787640G>C-
NM_005060.4(RORC):c.489G>A (p.Ser163=)6097RORCBenignrs146520783RCV000652790; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787711151787711CT1:g.151787711C>TClinGen:CA1095911C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.466G>A (p.Gly156Arg)6097RORCUncertain significance-1RCV001211656; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787734151787734CT1:g.151787734C>T-
NM_005060.4(RORC):c.465C>T (p.Asp155=)6097RORCLikely benignrs768035028RCV000916735; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787735151787735GA1:g.151787735G>A-
NM_005060.4(RORC):c.422C>T (p.Ala141Val)6097RORCUncertain significancers201494136RCV000122518|RCV001065352; NMedGen:CN517202|MONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787778151787778GA1:g.151787778G>AClinGen:CA232248CN517202 not provided;
NM_005060.4(RORC):c.407C>A (p.Thr136Asn)6097RORCUncertain significance-1RCV001224003; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787793151787793GT1:g.151787793G>T-
NM_005060.4(RORC):c.394C>T (p.Pro132Ser)6097RORCUncertain significance-1RCV001058345; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787806151787806GA1:g.151787806G>A-
NM_005060.4(RORC):c.374G>A (p.Arg125Gln)6097RORCUncertain significance-1RCV001219986; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787826151787826CT1:g.151787826C>T-
NM_005060.4(RORC):c.334G>A (p.Asp112Asn)6097RORCUncertain significance-1RCV001219781; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151787866151787866CT1:g.151787866C>T-
NM_005060.4(RORC):c.279G>A (p.Ala93=)6097RORCLikely benignrs201334909RCV000936250; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789159151789159CT1:g.151789159C>T-
NM_005060.4(RORC):c.253C>T (p.His85Tyr)6097RORCUncertain significancers142141845RCV000707497; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789185151789185GA1:g.151789185G>A-C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.245G>A (p.Arg82Gln)6097RORCUncertain significancers200944681RCV000792128; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789193151789193CT1:g.151789193C>T-
NM_005060.4(RORC):c.226G>A (p.Asp76Asn)6097RORCUncertain significance-1RCV001034822; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789212151789212CT1:g.151789212C>T-
NM_005060.4(RORC):c.187G>A (p.Ala63Thr)6097RORCUncertain significance-1RCV001204415; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789251151789251CT1:g.151789251C>T-
NM_005060.4(RORC):c.186C>T (p.Asn62=)6097RORCBenignrs34830957RCV000540237; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789252151789252GA1:g.151789252G>AClinGen:CA1095968
NM_005060.4(RORC):c.177G>C (p.Gln59His)6097RORCUncertain significancers200449406RCV000819406; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789261151789261CG1:g.151789261C>G-
NM_005060.4(RORC):c.113C>T (p.Ser38Leu)6097RORCPathogenicrs774357869RCV000201419; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151789714151789714GA1:g.151789714G>AClinGen:CA210235,UniProtKB:P51449#VAR_073725,OMIM:602943.0001C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.40+1G>A6097RORCUncertain significance-1RCV001069749; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804200151804200CT1:g.151804200C>T-
NM_005060.4(RORC):c.38G>A (p.Arg13Gln)6097RORCUncertain significance-1RCV001241332; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804203151804203CT1:g.151804203C>T-
NM_005060.4(RORC):c.37C>T (p.Arg13Trp)6097RORCUncertain significance-1RCV001217232; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804204151804204GA1:g.151804204G>A-
NM_005060.4(RORC):c.35C>T (p.Ser12Leu)6097RORCUncertain significance-1RCV001226853; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804206151804206GA1:g.151804206G>A-
NM_005060.4(RORC):c.33C>T (p.Ala11=)6097RORCBenignrs151097632RCV000652793; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804208151804208GA1:g.151804208G>AClinGen:CA1096078C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.28C>T (p.Arg10Ter)6097RORCLikely benignrs17582155RCV000555512; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804213151804213GA1:g.151804213G>AClinGen:CA1096081
NM_005060.4(RORC):c.20G>A (p.Arg7Lys)6097RORCUncertain significancers764892778RCV000803780; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804221151804221CT1:g.151804221C>T-
NM_005060.4(RORC):c.14C>G (p.Pro5Arg)6097RORCUncertain significance-1RCV001242920; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804227151804227GC1:g.151804227G>C-
NM_005060.4(RORC):c.8G>A (p.Arg3Lys)6097RORCUncertain significance-1RCV001047927; NMONDO:MONDO:0014710,MedGen:C4225266,OMIM:616622, Orphanet:4778571151804233151804233CT1:g.151804233C>T-
MSeqDR Portal