MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Immunologic Deficiency Syndromes (D007153)
..Starting node ..IMMUNODEFICIENCY 42 (OMIM:616622)
Child Nodes:
Sister Nodes:
..Activated PI3K-delta Syndrome (C585640)
..Agammaglobulinemia (D000361) 19
..Antibody Deficiency due to Defect in CD19 (C566275)
..Ataxia Telangiectasia (D001260) 6
..AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..C1q DEFICIENCY (OMIM:613652)
..C9 Deficiency (C565165)
..C9 Deficiency with Dermatomyositis (C565166)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Cd4+ Lymphocyte Deficiency (C566079)
..CD8 Deficiency, Familial (C563824)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Combined Inflammatory and Immunologic Defect (C565684)
..Common Variable Immunodeficiency (D017074)
..COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..Complement Component 3 Deficiency, Autosomal Recessive (C565169)
..Complement Component 4, Partial Deficiency Of (C565168)
..Complement Component 4a Deficiency (C565167)
..COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..Complement component 5 deficiency (C537005)
..Complement Component 6 Deficiency (C567307)
..Complement Component 7 Deficiency (C566443)
..COMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..Complement Component C1s Deficiency (C565170)
..COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..Complement Factor D Deficiency (C565027)
..Davenport Donlan syndrome (C535988)
..Deltaretrovirus Infections (D006800) 4
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dysgammaglobulinemia (D004406) 11
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Endotoxin Hyporesponsiveness (C566417)
..Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..Fanconi like syndrome (C536855)
..FICOLIN 3 DEFICIENCY (OMIM:613860)
..Griscelli syndrome type 2 (C537302)
..Hepatic venoocclusive disease with immunodeficiency (C537257)
..HIV Infections (D015658) 12
..Hypoglobulinemia and Absent B Cells (C565765)
..Immune Deficiency Disease (C565469)
..Immune Deficiency, Familial Variable (C564136)
..IMMUNODEFICIENCY 11 (OMIM:615206)
..IMMUNODEFICIENCY 12 (OMIM:615468)
..IMMUNODEFICIENCY 14 (OMIM:615513)
..IMMUNODEFICIENCY 15B (OMIM:615592)
..IMMUNODEFICIENCY 16 (OMIM:615593)
..IMMUNODEFICIENCY 17 (OMIM:615607)
..IMMUNODEFICIENCY 18 (OMIM:615615)
..IMMUNODEFICIENCY 19 (OMIM:615617)
..IMMUNODEFICIENCY 20 (OMIM:615707)
..IMMUNODEFICIENCY 21 (OMIM:614172)
..IMMUNODEFICIENCY 22 (OMIM:615758)
..IMMUNODEFICIENCY 23 (OMIM:615816)
..IMMUNODEFICIENCY 24 (OMIM:615897)
..IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..IMMUNODEFICIENCY 27B (OMIM:615978)
..IMMUNODEFICIENCY 28 (OMIM:614889)
..IMMUNODEFICIENCY 29 (OMIM:614890)
..IMMUNODEFICIENCY 30 (OMIM:614891)
..IMMUNODEFICIENCY 31A (OMIM:614892)
..IMMUNODEFICIENCY 31B (OMIM:613796)
..IMMUNODEFICIENCY 31C (OMIM:614162)
..IMMUNODEFICIENCY 32A (OMIM:614893)
..IMMUNODEFICIENCY 32B (OMIM:226990)
..IMMUNODEFICIENCY 36 (OMIM:616005)
..IMMUNODEFICIENCY 37 (OMIM:616098)
..IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..IMMUNODEFICIENCY 39 (OMIM:616345)
..IMMUNODEFICIENCY 40 (OMIM:616433)
..IMMUNODEFICIENCY 42 (OMIM:616622)
..IMMUNODEFICIENCY 44 (OMIM:616636)
..IMMUNODEFICIENCY 45 (OMIM:616669)
..IMMUNODEFICIENCY 46 (OMIM:616740)
..IMMUNODEFICIENCY 47 (OMIM:300972)
..IMMUNODEFICIENCY 48 (OMIM:269840)
..IMMUNODEFICIENCY 49 (OMIM:617237)
..IMMUNODEFICIENCY 50 (OMIM:300988)
..IMMUNODEFICIENCY 51 (OMIM:613953)
..IMMUNODEFICIENCY 54 (OMIM:609981)
..IMMUNODEFICIENCY 56 (OMIM:615207)
..IMMUNODEFICIENCY 8 (OMIM:615401)
..Immunodeficiency due to Defect in CD3-Epsilon (C566082)
..Immunodeficiency due to Defect in CD3-Gamma (C566083)
..Immunodeficiency due to Defect in CD3-Zeta (C565712)
..Immunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..Immunodeficiency syndrome, variable (C537362) 1
..Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..Immunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..Inosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..Interleukin 2 Receptor, Alpha, Deficiency of (C565232)
..Invasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..Invasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..IRAK4 Deficiency (C564352)
..Kappa-Chain Deficiency (C564131)
..Kotzot-Richter syndrome (C537025)
..Leukocyte-Adhesion Deficiency Syndrome (D018370) 2
..Lichtenstein syndrome (C535894)
..LIG4 Syndrome (C564694)
..LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..Lymphoblastic Transformation, Intrinsic Defect in (C565431)
..Lymphoid System Deterioration, Progressive (C565430)
..Lymphokine Deficiency (C565428)
..Lymphopenia (D008231) 5
..Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..MASP2 Deficiency (C565360)
..MYD88 Deficiency (C567379)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Natural Killer Cell Deficiency, Familial Isolated (C566492)
..NEMO mutation with immunodeficiency (C538399)
..Neutrophil Immunodeficiency Syndrome (C564275)
..Phagocyte Bactericidal Dysfunction (D010585) 14
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Riddle Syndrome (C567453)
..Roifman syndrome (C535866)
..Roifman-Chitayat Syndrome (C567641)
..Schimke immunoosseous dysplasia (C536629)
..Severe Combined Immunodeficiency (D016511) 22 C:1
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..Splenic Hypoplasia (C563028)
..T cell immunodeficiency primary (C536780)
..T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..T-Cell OKT4 Deficiency (C566080)
..T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..Thymic aplasia (C536288)
..Tuftsin Deficiency (C562872)
..WHIM 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 :
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000778	Hypoplasia of the thymus

Disease Causing ClinVar Variants

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

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen