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
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Blood Protein Disorders (D001796)
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Immunologic Deficiency Syndromes (D007153)
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Lymphoproliferative Disorders (D008232)
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Agammaglobulinemia (D000361)

       Child Nodes:
........expandAchondroplasia and Swiss type agammaglobulinemia (C536020)
........expandAGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
........expandAgammaglobulinemia, microcephaly, and severe dermatitis (C538055)
........expandAgammaglobulinemia, non-Bruton type (C538056)
........expandAgammaglobulinemia, Non-Bruton Type, Autosomal Dominant (C563305)
........expandAgammaglobulinemia, X-linked, type 2 (C538057)
........expandBruton type agammaglobulinemia (C537409)
........expandFrenkel Russe syndrome (C535638)
........expandGranulocytopenia with Immunoglobulin Abnormality (C565535)
........expandHypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
........expandHypogammaglobulinemia, X-Linked (C562478)
........expandLeukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
........expandLeukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
........expandMicrocephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
........expandOsteopetrosis, Autosomal Recessive 7 (C567354)
........expandSay Barber Miller syndrome (C536618)
........expandSevere combined immunodeficiency due to adenosine deaminase deficiency (C531816)



 Sister Nodes: 
..expandAgammaglobulinemia (D000361) Child19
..expandAutoimmune Lymphoproliferative Syndrome (D056735) Child5
..expandCastleman Disease (D005871) Child2
..expandGranuloma (D006099) Child17
..expandHeavy Chain Disease (D006362) Child7
..expandImmunoblastic Lymphadenopathy (D007119)
..expandImmunoglobulin Light-chain Amyloidosis (D000075363)
..expandImmunoproliferative Small Intestinal Disease (D007161)
..expandInfectious Mononucleosis (D007244)
..expandLeukemia, Hairy Cell (D007943)
..expandLeukemia, Lymphoid (D007945) Child14
..expandLymphangiomyoma (D008203) Child1
..expandLymphoma (D008223) Child36
..expandLYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
..expandLymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 (C567815)
..expandLymphoproliferative Syndrome, X-Linked, 2 (C564469)
..expandMacrophage Activation Syndrome (D055501)
..expandMarek Disease (D008380)
..expandMultiple Myeloma (D009101) Child1
..expandPlasmacytoma (D010954) Child1
..expandSarcoidosis (D012507) Child4
..expandSezary Syndrome (D012751)
..expandTumor Lysis Syndrome (D015275)
..expandWaldenstrom Macroglobulinemia (D008258)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:360
Name:Agammaglobulinemia
Definition:An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
Alternative IDs:DO:DOID:2583|OMIM:601495|OMIM:612692|OMIM:613500|OMIM:613501|OMIM:613502|OMIM:613506|OMIM:616941
ParentIDs:MESH:D001796|MESH:D007153|MESH:D008232
TreeNumbers:C15.378.147.142 |C15.604.515.032 |C20.673.088
Synonyms:AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE |AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE |AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE |AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE |AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT |AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE |AGA
Slim Mappings:Blood disease|Immune system disease|Lymphatic disease
Reference: MedGen: D000361
MeSH: D000361
OMIM: 613500;
MSeqDR LSDB:  
Genes: BLNK; CD79A; CD79B; IGHM; IGLL1; LRRC8A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0004432Agammaglobulinemia
4 HP:0001287Meningitis
5 HP:0002718Recurrent bacterial infections
6 HP:0006532Recurrent pneumonia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000022.10:g.(?_23915433)_(23922397_?)dup3543IGLL1Uncertain significance-1RCV000818559; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391543323922397nana-
NC_000022.10:g.(?_23915453)_(24921762_?)dup3543IGLL1Uncertain significance-1RCV001301073; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391545324921762nana-1-
NM_020070.4(IGLL1):c.619G>A (p.Val207Met)3543IGLL1Uncertain significancers779159751RCV001218864; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391547623915476CT22:g.23915476C>T-
NM_020070.4(IGLL1):c.618G>A (p.Thr206=)3543IGLL1Likely benignrs147356355RCV000648338; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391547723915477CT22:g.23915477C>TClinGen:CA10143204C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.617C>T (p.Thr206Met)3543IGLL1Uncertain significance-1RCV001366721; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391547823915478GA23915478-
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)3543IGLL1Conflicting interpretations of pathogenicityrs139491925RCV000648331; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391547923915479TA22:g.23915479T>AClinGen:CA10143206
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala)3543IGLL1Uncertain significancers1569069031RCV000698190; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391548623915489CACGTGCANC_000022.10:g.23915486_23915489delinsTGCA-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.609G>A (p.Val203=)3543IGLL1Likely benign-1RCV001427811; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391548623915486CT23915486-
NM_020070.4(IGLL1):c.607G>A (p.Val203Met)3543IGLL1Uncertain significancers771552908RCV000648333; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391548823915488CT22:g.23915488C>TClinGen:CA10143210C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.606_607del (p.Val203fs)3543IGLL1Uncertain significancers765895465RCV001348904; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391548823915489ACGA23915487-
NM_020070.4(IGLL1):c.606C>T (p.Thr202=)3543IGLL1Likely benign-1RCV001451144; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391548923915489GA23915489-
NM_020070.4(IGLL1):c.594C>T (p.His198=)3543IGLL1Likely benignrs1064418RCV000884813; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391550123915501GA22:g.23915501G>A-
NM_020070.4(IGLL1):c.594C>A (p.His198Gln)3543IGLL1Uncertain significancers1064418RCV001320847; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391550123915501GT23915501-
NM_020070.4(IGLL1):c.590T>C (p.Met197Thr)3543IGLL1Uncertain significancers772660059RCV001067877; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391550523915505AG22:g.23915505A>G-
NM_020070.4(IGLL1):c.588C>T (p.Val196=)3543IGLL1Likely benign-1RCV001485655; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391550723915507GA23915507-
NM_020070.4(IGLL1):c.566G>A (p.Arg189His)3543IGLL1Benignrs8138122RCV000576266; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391552923915529CT22:g.23915529C>TClinGen:CA10143225C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter)3543IGLL1Uncertain significancers1569069105RCV000704395; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391554223915542GA22:g.23915542G>A-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys)3543IGLL1Uncertain significance-1RCV001363581; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391554523915545CT23915545-
NM_020070.4(IGLL1):c.549C>T (p.Pro183=)3543IGLL1Benignrs75088277RCV000527298|RCV001706676; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222391554623915546GA22:g.23915546G>AClinGen:CA10143232C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.546G>A (p.Thr182=)3543IGLL1Likely benign-1RCV001469528; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391554923915549CT23915549-
NM_020070.4(IGLL1):c.546G>C (p.Thr182=)3543IGLL1Likely benign-1RCV001490052; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391554923915549CG23915549-
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)3543IGLL1Uncertain significancers765426613RCV000823104; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391556823915568CT22:g.23915568C>T-
NM_020070.4(IGLL1):c.525C>T (p.Ala175=)3543IGLL1Likely benign-1RCV001489123; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391557023915570GA23915570-
NM_020070.4(IGLL1):c.522G>A (p.Ala174=)3543IGLL1Likely benignrs374026526RCV000918412|RCV001490550; NMedGen:CN517202|MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391557323915573CT22:g.23915573C>T-
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)3543IGLL1Uncertain significancers1555903974RCV000648332; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391557423915575GCATNC_000022.10:g.23915574_23915575delinsATClinGen:CA658799498C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val)3543IGLL1Benignrs1064419RCV000703680; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391557423915574GA22:g.23915574G>A-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr)3543IGLL1Benignrs199718215RCV000953619; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391557523915575CT22:g.23915575C>T-
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser)3543IGLL1Benignrs1064421RCV000508166; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391558323915583TC22:g.23915583T>CClinGen:CA10143248CN169374 not specified;
NM_020070.4(IGLL1):c.507C>T (p.Ser169=)3543IGLL1Benignrs74519217RCV000537497|RCV001662577; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222391558823915588GA22:g.23915588G>AClinGen:CA10143249C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.492G>A (p.Thr164=)3543IGLL1Benignrs148071349RCV000920033; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391560323915603CT22:g.23915603C>T-
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys)3543IGLL1Benignrs111903752RCV000559039|RCV001613331; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222391561023915610AT22:g.23915610A>TClinGen:CA10143256
NM_020070.4(IGLL1):c.485T>C (p.Met162Thr)3543IGLL1Benignrs111903752RCV000960617; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391561023915610AG22:g.23915610A>G-
NM_020070.4(IGLL1):c.478G>A (p.Val160Met)3543IGLL1Uncertain significancers138799296RCV000797954; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391561723915617CT22:g.23915617C>T-
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser)3543IGLL1Benignrs139571703RCV000540922; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391562023915620CT22:g.23915620C>TClinGen:CA10143261
NM_020070.4(IGLL1):c.468C>A (p.Ile156=)3543IGLL1Likely benignrs536839343RCV000931007; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391562723915627GT22:g.23915627G>T-
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu)3543IGLL1Benignrs145176864RCV000576217; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391563123915631GA22:g.23915631G>AClinGen:CA10143264C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)3543IGLL1Uncertain significancers1602287119RCV000822124; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391563523915635TA22:g.23915635T>A-
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)3543IGLL1Uncertain significancers138007109RCV000694322; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391563723915637CA22:g.23915637C>A-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile)3543IGLL1Benign-1RCV001510885|RCV001615177; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222391565223915652GA23915652-
NM_020070.4(IGLL1):c.438G>A (p.Thr146=)3543IGLL1Likely benignrs377678203RCV000884333; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391565723915657CT22:g.23915657C>T-
NM_020070.4(IGLL1):c.438G>C (p.Thr146=)3543IGLL1Likely benignrs377678203RCV000942472|RCV001447957; NMedGen:CN517202|MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391565723915657CG22:g.23915657C>G-
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)3543IGLL1Conflicting interpretations of pathogenicityrs112775194RCV000660488; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391565823915658GA22:g.23915658G>A-
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)3543IGLL1Conflicting interpretations of pathogenicityrs1064422RCV000015949|RCV000756272|RCV001170010; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202|MedGen:CN169374222391567023915670GA22:g.23915670G>AClinGen:CA124367,UniProtKB:P15814#VAR_034869,OMIM:146770.0002
NM_020070.4(IGLL1):c.423T>C (p.Tyr141=)3543IGLL1Benignrs143849749RCV000892964; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391567223915672AG22:g.23915672A>G-
NM_020070.4(IGLL1):c.421del (p.Tyr141fs)3543IGLL1Uncertain significancers765603007RCV001236269; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391567423915674TAT22:g.23915674_23915674del-
NM_020070.4(IGLL1):c.420T>C (p.Phe140=)3543IGLL1Likely benignrs1064423RCV000757400|RCV001089138; NMedGen:CN517202|MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391567523915675AG22:g.23915675A>G-
NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn)3543IGLL1Uncertain significancers374565313RCV001222823; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391568023915680CT22:g.23915680C>T-
NM_020070.4(IGLL1):c.393T>C (p.Ala131=)3543IGLL1Benign/Likely benignrs1064424RCV000648335|RCV001531373; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222391570223915702AG22:g.23915702A>GClinGen:CA10143284C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.385A>C (p.Asn129His)3543IGLL1Uncertain significancers1304505064RCV000797950; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391571023915710TG22:g.23915710T>G-
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro)3543IGLL1Uncertain significancers142959335RCV000690740; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391571823915718AG22:g.23915718A>G-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys)3543IGLL1Uncertain significancers537809626RCV000819393; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391572723915727GC22:g.23915727G>C-
NM_020070.4(IGLL1):c.363G>A (p.Pro121=)3543IGLL1Likely benign-1RCV001429178; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391573223915732CT23915732-
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu)3543IGLL1Uncertain significancers746843426RCV000689568; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391573323915733GA22:g.23915733G>A-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.360G>A (p.Pro120=)3543IGLL1Likely benignrs184173813RCV000923973; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391573523915735CT22:g.23915735C>T-
NM_020070.4(IGLL1):c.359C>T (p.Pro120Leu)3543IGLL1Likely benignrs142384414RCV000953773; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391573623915736GA22:g.23915736G>A-
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile)3543IGLL1Likely benignrs143780139RCV000974711|RCV001572741; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222391574523915745GA22:g.23915745G>A-
NM_020070.4(IGLL1):c.345G>A (p.Ser115=)3543IGLL1Likely benignrs373712072RCV000893484; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391575023915750CT22:g.23915750C>T-
NM_020070.4(IGLL1):c.344C>T (p.Ser115Leu)3543IGLL1Uncertain significance-1RCV001362233; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391575123915751GA23915751-
NM_020070.4(IGLL1):c.342C>G (p.Pro114=)3543IGLL1Likely benignrs146831457RCV000972029; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391575323915753GC22:g.23915753G>C-
NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu)3543IGLL1Uncertain significancers575368058RCV001054027; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391575423915754GA22:g.23915754G>A-
NM_020070.4(IGLL1):c.338C>A (p.Thr113Asn)3543IGLL1Uncertain significance-1RCV001373210; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391575723915757GT23915757-
NM_020070.4(IGLL1):c.336C>T (p.Ala112=)3543IGLL1Likely benignrs140494226RCV000648339; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391575923915759GA22:g.23915759G>AClinGen:CA10143307C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)3543IGLL1Conflicting interpretations of pathogenicityrs149986237RCV000648334; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391576123915761CT22:g.23915761C>TClinGen:CA10143308
NM_020070.4(IGLL1):c.327G>A (p.Gln109=)3543IGLL1Likely benignrs376293773RCV000943725|RCV001465409; NMedGen:CN517202|MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391576823915768CT22:g.23915768C>T-
NC_000022.10:g.(?_23917134)_(23922397_?)dup3543IGLL1Uncertain significance-1RCV000707998; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391713423922397nana-
NC_000022.11:g.(?_23574947)_(23580210_?)del3543IGLL1Uncertain significance-1RCV000708032; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391713423922397nana-
NC_000022.10:g.(?_23917134)_(23922377_?)dup3543IGLL1Uncertain significance-1RCV001325420; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391713423922377nana-1-
NM_020070.4(IGLL1):c.322+8G>A3543IGLL1Likely benign-1RCV001414131; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391714623917146CT23917146-
NM_020070.4(IGLL1):c.322+3_322+6del3543IGLL1Uncertain significancers1184765604RCV000696415; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391714823917151CACTTC22:g.23917148_23917151del-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.322+4A>G3543IGLL1Uncertain significancers753787644RCV001321968; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391715023917150TC23917150-
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile)3543IGLL1Uncertain significancers747083240RCV000806803; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391716023917160CT22:g.23917160C>T-
NM_020070.4(IGLL1):c.315C>T (p.Thr105=)3543IGLL1Likely benign-1RCV001401925; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391716123917161GA23917161-
NM_020070.4(IGLL1):c.309G>A (p.Gln103=)3543IGLL1Benignrs114285337RCV000648336; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391716723917167CT22:g.23917167C>TClinGen:CA10143340C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg)3543IGLL1Uncertain significancers775909535RCV000798723; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391717523917175CT22:g.23917175C>T-
NM_020070.4(IGLL1):c.300C>T (p.Ser100=)3543IGLL1Benignrs115303391RCV000541740; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391717623917176GA22:g.23917176G>AClinGen:CA10143343
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys)3543IGLL1Benignrs116041505RCV000531583|RCV001573740|RCV001702511; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202|MedGen:CN169374222391719223917192GT22:g.23917192G>TClinGen:CA10143352C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.276C>T (p.Asn92=)3543IGLL1Benignrs116275804RCV000999822|RCV001706671; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222391720023917200GA22:g.23917200G>AClinGen:CA10143356C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.258del (p.Gln88fs)3543IGLL1Uncertain significancers532338576RCV000225003; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391721823917218ACA22:g.23917218_23917218delClinGen:CA10143358,OMIM:146770.0003C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)3543IGLL1Uncertain significancers200178386RCV000698315; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391722223917222CT22:g.23917222C>T-
NM_020070.4(IGLL1):c.254G>T (p.Arg85Leu)3543IGLL1Benign-1RCV001514133; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391722223917222CA23917222-
NM_020070.4(IGLL1):c.253C>T (p.Arg85Trp)3543IGLL1Likely benignrs369768094RCV000890845; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391722323917223GA22:g.23917223G>A-
NM_020070.4(IGLL1):c.234T>G (p.Thr78=)3543IGLL1Likely benign-1RCV001487134; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391724223917242AC23917242-
NM_020070.4(IGLL1):c.223G>A (p.Gly75Ser)3543IGLL1Likely benign-1RCV001452899; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391725323917253CT23917253-
NM_020070.4(IGLL1):c.222C>T (p.Arg74=)3543IGLL1Likely benign-1RCV001422470; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391725423917254GA23917254-
NM_020070.4(IGLL1):c.221G>A (p.Arg74His)3543IGLL1Uncertain significancers368706509RCV001047821; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391725523917255CT22:g.23917255C>T-
NM_020070.4(IGLL1):c.216C>T (p.Leu72=)3543IGLL1Likely benign-1RCV001456253; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391726023917260GA23917260-
NM_020070.4(IGLL1):c.207-8C>T3543IGLL1Likely benign-1RCV001489104; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391727723917277GA23917277-
NM_020070.4(IGLL1):c.207-9T>A3543IGLL1Benignrs201800585RCV000648337; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222391727823917278AT22:g.23917278A>TClinGen:CA10143384C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NC_000022.10:g.(?_23922152)_(23922397_?)del3543IGLL1Uncertain significance-1RCV001344838; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392215223922397nana-1-
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln)3543IGLL1Uncertain significancers569884568RCV000693723; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392218123922181CT22:g.23922181C>T-C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu)3543IGLL1Uncertain significancers569884568RCV001037338; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392218123922181CA22:g.23922181C>A-
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly)3543IGLL1Uncertain significancers146108390RCV001050952; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392220023922200GC22:g.23922200G>C-
NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp)3543IGLL1Uncertain significancers146108390RCV001239821; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392220023922200GA22:g.23922200G>A-
NM_020070.4(IGLL1):c.163C>T (p.Pro55Ser)3543IGLL1Uncertain significancers759845022RCV001298932; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392221523922215GA23922215-
NM_020070.4(IGLL1):c.152_158dup (p.Ala54fs)3543IGLL1Uncertain significancers1925262225RCV001338148; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392221923922220TTCCAGGGC23922219-
NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly)3543IGLL1Uncertain significancers555319123RCV001241262; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392223623922236TC22:g.23922236T>C-
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys)3543IGLL1Uncertain significancers199529532RCV001042822; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392226023922260GA22:g.23922260G>A-
NM_020070.4(IGLL1):c.111C>G (p.Gly37=)3543IGLL1Likely benign-1RCV001488051; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392226723922267GC23922267-
NM_020070.4(IGLL1):c.97G>A (p.Val33Met)3543IGLL1Benignrs116760479RCV000507378|RCV001644565; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:CN517202222392228123922281CT22:g.23922281C>TClinGen:CA10143429CN169374 not specified;
NM_020070.4(IGLL1):c.67C>T (p.Arg23Cys)3543IGLL1Likely benignrs114766892RCV000895388; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392231123922311GA22:g.23922311G>A-
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)3543IGLL1Pathogenicrs74315491RCV000015948; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392231423922314GA22:g.23922314G>AClinGen:CA124364,OMIM:146770.0001C3150750 613500 Agammaglobulinemia 2, autosomal recessive;
NM_020070.4(IGLL1):c.54C>G (p.Pro18=)3543IGLL1Likely benignrs1437649021RCV000983134|RCV001399387; NMedGen:CN517202|MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392232423922324GC22:g.23922324G>C-
NM_020070.4(IGLL1):c.53C>T (p.Pro18Leu)3543IGLL1Uncertain significancers374187217RCV001326209; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392232523922325GA23922325-
NM_020070.4(IGLL1):c.45G>A (p.Glu15=)3543IGLL1Likely benign-1RCV001474850; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392233323922333CT23922333-
NM_020070.4(IGLL1):c.36C>T (p.Ala12=)3543IGLL1Likely benign-1RCV001482815; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392234223922342GA23922342-
NM_020070.4(IGLL1):c.35C>T (p.Ala12Val)3543IGLL1Uncertain significancers775788164RCV001208917; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392234323922343GA22:g.23922343G>A-
NM_020070.4(IGLL1):c.21G>C (p.Gln7His)3543IGLL1Uncertain significancers1044209410RCV000699189; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392235723922357CG22:g.23922357C>G-
NM_020070.4(IGLL1):c.17G>T (p.Gly6Val)3543IGLL1Uncertain significancers1460659708RCV001240028; NMONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500222392236123922361CA22:g.23922361C>A-
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