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
Agammaglobulinemia (D000361)
Parent Node:
expand
Genetic Diseases, X-Linked (D040181)
..Starting node
..expand
Bruton type agammaglobulinemia (C537409)

       Child Nodes:



 Sister Nodes: 
..expandAarskog Syndrome (C535331) Child1
..expandAbruzzo Erickson syndrome (C535559)
..expandAchromatopsia incomplete, X-linked (C538165)
..expandAdrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..expandAgammaglobulinemia, X-linked, type 2 (C538057)
..expandAicardi Syndrome (D058540) Child1
..expandAland Island Eye Disease (C562664)
..expandAlpha-Thalassemia Myelodysplasia Syndrome (C563023)
..expandAlport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..expandAlzheimer Disease 16 (C567463)
..expandAndrogen-Insensitivity Syndrome (D013734) Child2
..expandAnemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAnemia, X-Linked, without Thrombocytopenia (C564429)
..expandAnencephaly and spina bifida X-linked (C536359)
..expandAneurysm, Intracranial Berry, 5 (C563670)
..expandAngioma serpiginosum, X-linked (C536366)
..expandArthrogryposis multiplex congenita, distal, X-linked (C535380)
..expandArthrogryposis, X-Linked, Type V (C564574)
..expandArts syndrome (C535388)
..expandAtypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..expandAtypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..expandBarth Syndrome (D056889) Child2  LSDB  L: 00399;
..expandBornholm Eye Disease (C564092)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..expandBranchial arch syndrome X-linked (C537102)
..expandBrunner Syndrome (C563156)
..expandBruton type agammaglobulinemia (C537409)
..expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCardiac valvular dysplasia, X-linked (C535576)
..expandCardiomyopathy, Dilated, 3A (C564721)
..expandCataract, congenital, with microcornea or slight microphthalmia (C535338)
..expandChondrodysplasia punctata, brachytelephalangic (C535941)
..expandChoroideremia (D015794) Child2
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandChromosome Xq28 Duplication Syndrome (C567580)
..expandCleft Palate with Ankyloglossia (C564442)
..expandCleft palate X-linked (C536426)
..expandCone Dystrophy, X-Linked, 1 (C564439)
..expandCone dystrophy, x-linked, with tapetal-like sheen (C535975)
..expandCone-Rod Dystrophy, X-Linked, 2 (C564717)
..expandCone-Rod Dystrophy, X-Linked, 3 (C564507)
..expandCone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..expandCongenital alopecia X-linked (C535981)
..expandCongenital Heart Defects, X-Linked (C567444)
..expandCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..expandCongenital idiopathic intestinal pseudoobstruction (C535532)
..expandCorpus Callosum, Partial Agenesis of, X-Linked (C564115)
..expandCraniofacioskeletal Syndrome (C567471)
..expandDeafness, High-Frequency Sensorineural, X-Linked (C564432)
..expandDeafness, X-Linked 1 (C564433)
..expandDeafness, X-Linked 3 (C564727)
..expandDeafness, X-Linked 4 (C564723)
..expandDeafness, X-Linked 5 (C564472)
..expandDent Disease (D057973) Child1
..expandDent disease 1 (C538212)
..expandDent Disease 2 (C564487)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandDyskeratosis Congenita (D019871) Child3
..expandDystonia 3, Torsion, X-Linked (C564048)
..expandEctodermal Dysplasia 1, Anhidrotic (D053358) Child1
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEhlers-Danlos syndrome type 5 (C536197)
..expandEpidermodysplasia Verruciformis, X-Linked (C564430)
..expandEpilepsy, Female-Restricted, with Mental Retardation (C564715)
..expandEpilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..expandEpisodic Muscle Weakness, X-Linked (C564565)
..expandExudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..expandFabry Disease (D000795) Child2
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFg Syndrome 5 (C564480)
..expandFocal Dermal Hypoplasia (D005489) Child1
..expandGlycogen Storage Disease Type IIb (D052120)
..expandGlycogen Storage Disease Type VIII (D006015)
..expandGlycogen Storage Disease, Type IXA2 (C567579)
..expandGlycogen Storage Disease, Type IXD (C564485)
..expandGranulomatous Disease, Chronic (D006105) Child7
..expandHemophilia B (D002836)
..expandHeterotaxy, visceral, X-linked (C538116)
..expandHeterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..expandHeterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..expandHodgkin disease, X-linked pseudoautosomal (C538326)
..expandHydrocephalus With Cerebellar Agenesis (C564407)
..expandHydrocephalus, X-linked (C536078)
..expandHydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..expandHyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) Child1
..expandHyperekplexia and Epilepsy (C564474)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..expandHypogammaglobulinemia, X-Linked (C562478)
..expandHypoparathyroidism, X-Linked (C562782)
..expandHypospadias 1, X-Linked (C567482)
..expandHypospadias 2, X-Linked (C567462)
..expandIchthyosis, X-Linked (D016114) Child2
..expandIchthyosis, X-Linked, Complicated (C567443)
..expandImmune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..expandImmunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..expandIsolated Noncompaction of the Ventricular Myocardium (D056830) Child5
..expandJoubert Syndrome 10 (C567582)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandLeigh Syndrome, X-Linked (C564114)
..expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..expandLiver Glycogenosis, X-Linked, Type II (C564421)
..expandLymphoproliferative Syndrome, X-Linked, 2 (C564469)
..expandMacrothrombocytopenia, X-Linked (C564526)
..expandMacular Dystrophy, X-Linked (C564110)
..expandMajor Affective Disorder 2 (C564108)
..expandMartin-Probst Deafness-Mental Retardation Syndrome (C564495)
..expandMASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..expandMegalocornea (C562829)
..expandMembranoproliferative Glomerulonephritis, X-Linked (C564423)
..expandMental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..expandMental Retardation, X-Linked (D038901) Child134  LSDB C:4
..expandMental Retardation, X-Linked, Syndromic 12 (C564106)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandMental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..expandMental Retardation, X-Linked, With Panhypopituitarism (C567485)
..expandMental Retardation, X-Linked, Znf711-Related (C567583)
..expandMicrophthalmia, Isolated, with Coloboma 1 (C564531)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMidline Defects, X-Linked (C564054)
..expandModifier, X-Linked, for Neurofunctional Defects (C564098)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandMuscular Dystrophy, Duchenne (D020388) Child1
..expandMuscular Dystrophy, Emery-Dreifuss (D020389) Child10
..expandMuscular Dystrophy, Progressive Pectorodorsal (C564095)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyopia 1 (C564091)
..expandMyopia 13 (C564473)
..expandNance-Horan syndrome (C538336)
..expandNasodigitoacoustic syndrome (C538337)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..expandNephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..expandNeural tube defects X-linked (C536410)
..expandNeuropathy, Hereditary Sensory, X-Linked (C564090)
..expandNeutropenia, Severe Congenital, X-Linked (C564539)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNorrie disease (C537849)
..expandNystagmus 5, Infantile Periodic Alternating (C564478)
..expandOculocerebrorenal Syndrome (D009800) Child1
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOpitz GBBB Syndrome, X-Linked (C567932)
..expandOptic atrophy, X-linked (C537125)
..expandOrnithine Carbamoyltransferase Deficiency Disease (D020163) Child1
..expandOvarian Dysgenesis 2 (C564499)
..expandPanhypopituitarism X-linked (C538613)
..expandParathyroid Glands, Agenesis Of (C563238)
..expandParkinson Disease 12 (C564486)
..expandParkinsonism, early onset with mental retardation (C537179)
..expandPelizaeus-Merzbacher Disease (D020371) Child1
..expandPhosphoglycerate Kinase 1 Deficiency (C567067)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPremature Ovarian Failure 2a (C564498)
..expandProgressive hearing loss stapes fixation (C536424)
..expandProperdin Deficiency, Type II (C564075)
..expandProperdin Deficiency, Type III (C564076)
..expandProperdin deficiency, X-linked (C537241)
..expandPROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..expandProstate Cancer, Hereditary, X-Linked 2 (C567477)
..expandProtoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..expandProud Syndrome (C563110)
..expandPtosis, Hereditary Congenital 2 (C564553)
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRadiation Sensitivity of Natural Killer Activity (C564066)
..expandRadius absent anogenital anomalies (C535281)
..expandReticuloendotheliosis, X-linked (C538362)
..expandRetinitis Pigmentosa 3 (C564520)
..expandRetinitis Pigmentosa 34 (C564475)
..expandRetinitis Pigmentosa 6 (C564065)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandShort Stature, Idiopathic, X-Linked (C564479)
..expandSimpson-Golabi-Behmel syndrome (C537340)
..expandSimpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..expandSketetal dysplasia coarse facies mental retardation (C536671)
..expandSpastic paraplegia 16, X-linked (C536643)
..expandSpastic paraplegia 2, X-linked (C536857)
..expandSpastic Paraplegia 34, X-Linked (C567465)
..expandSpina Bifida, X-Linked (C564459)
..expandSpinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
..expandSpinocerebellar ataxia, X-linked, 3 (C537315)
..expandSplit-Hand Foot Malformation 2 (C564056) Child1
..expandSpondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..expandSpondylometaphyseal Dysplasia, X-Linked (C563124)
..expandSurfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandTesticular Germ Cell Tumor 1 (C564559)
..expandThrombocytopenia 1 (C564052)
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..expandThrombocytopenia, X-Linked, Intermittent (C564053)
..expandThrombocytosis, Familial X-Linked (C564532)
..expandThrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..expandThyroxine-Binding Globulin Deficiency (C564049)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTorticollis keloids cryptorchidism renal dysplasia (C536970)
..expandVACTERL Association With Hydrocephalus (C564751)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandVesicoureteral Reflux, X-Linked (C564042)
..expandVon Willebrand Disease, X-Linked Form (C564041)
..expandWells Jankovic syndrome (C536692)
..expandWieacker syndrome (C536703)
..expandWiskott-Aldrich Syndrome (D014923) Child1
..expandX Inactivation, Familial Skewed, 1 (C564716)
..expandX Inactivation, Familial Skewed, 2 (C564572)
..expandX-Linked Chondrodysplasia Punctata 1 (C580533)
..expandX-Linked Combined Immunodeficiency Diseases (D053632) Child1
..expandX-Linked Infantile Nystagmus (C580539)
..expandX-linked sideroblastic anemia (C536761)
..expandX-linked tetra-amelia (C536497)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1643
Name:Bruton type agammaglobulinemia
Definition:
Alternative IDs:DO:DOID:14179|OMIM:300755
ParentIDs:MESH:D000361|MESH:D040181
TreeNumbers:C15.378.147.142/C537409 |C15.604.515.032/C537409 |C16.320.322/C537409 |C20.673.088/C537409
Synonyms:Agammaglobulinemia, Bruton tyrosine kinase |Agammaglobulinemia, BTK |Agammaglobulinemia, X-Linked |AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1 |Agammaglobulinemia, X-Linked, Type I |AGMX1 |Bruton's Agammaglobulinemia |Bruton-Type Agammaglobulinemia |Bruton-type (congen
Slim Mappings:Blood disease|Genetic disease (inborn)|Immune system disease|Lymphatic disease
Reference: MedGen: C537409
MeSH: C537409
OMIM: 300755;
MSeqDR LSDB:  
Genes: BTK;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0004432Agammaglobulinemia
3 HP:0000509Conjunctivitis
4 HP:0001648Cor pulmonale
5 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
6 HP:0002014Diarrhea
7 HP:0002383Encephalitis
8 HP:0003729Enteroviral dermatomyositis syndrome
9 HP:0001412Enteroviral hepatitis
10 HP:0000031Epididymitis
11 HP:0000365Hearing impairment
12 HP:0002732Lymph node hypoplasia
13 HP:0001287Meningitis
14 HP:0002664Neoplasm
15 HP:0000388Otitis media
16 HP:0002090Pneumonia
17 HP:0000024Prostatitis
18 HP:0000999Pyoderma
19 HP:0000010Recurrent urinary tract infections
20 HP:0003095Septic arthritis
21 HP:0000246Sinusitis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000061.3(BTK):c.*390G>A695BTKUncertain significancers782012349RCV001253982|RCV001253960; NMONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100604483100604483CTX:g.100604483C>T-
NM_000061.3(BTK):c.*334TG[4]695BTKLikely benignrs200445244RCV000276267|RCV000317410; NMONDO:MONDO:0000050,MedGen:CN239262,OMIM:PS262400, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100604530100604531CCACX:g.100604530_100604531delClinGen:CA10651584C0271563 Isolated Growth Hormone Deficiency;
NM_000061.3(BTK):c.*342T>G695BTKUncertain significancers781937023RCV000282023|RCV000371943; NMONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100604531100604531ACX:g.100604531A>CClinGen:CA10653713C0271563 Isolated Growth Hormone Deficiency;
NM_000061.3(BTK):c.*334T>G695BTKBenignrs183674618RCV000318456|RCV000377727; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100604539100604539ACX:g.100604539A>CClinGen:CA10645814C0271563 Isolated Growth Hormone Deficiency;
NM_000061.3(BTK):c.*221G>T695BTKBenignrs1122765RCV001165567|RCV001165566; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100604652100604652CAX:g.100604652C>A-
NM_000061.3(BTK):c.*192G>A695BTKBenignrs1057403RCV000283042|RCV000342738; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100604681100604681CTX:g.100604681C>TClinGen:CA10653714
NM_000061.3(BTK):c.*116A>C695BTKBenignrs700RCV000289032|RCV000407071|RCV001597128; NMONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202X100604757100604757TGX:g.100604757T>GClinGen:CA10654228
NM_000061.3(BTK):c.1977C>T (p.Ser659=)695BTKConflicting interpretations of pathogenicityrs782047787RCV001167164|RCV001167165; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100604876100604876GAX:g.100604876G>A-
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro)695BTKPathogenicrs128622212RCV000012145; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100604898100604898AGX:g.100604898A>GClinGen:CA255851,UniProtKB:Q06187#VAR_006281,OMIM:300300.0051C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1909-9T>C695BTKConflicting interpretations of pathogenicityrs782702231RCV000175387|RCV000637057|RCV001167166; NMedGen:CN169374|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100604953100604953AGX:g.100604953A>GClinGen:CA201434CN169374 not specified;
NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)695BTKPathogenicrs128622211RCV000012143; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608184100608184CAX:g.100608184C>AClinGen:CA255848,OMIM:300300.0049C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1899C>T (p.Cys633=)695BTKBenignrs1135363RCV000254181|RCV000343690|RCV000407074; NMedGen:CN169374|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608191100608191GAX:g.100608191G>AClinGen:CA10472960C0271563 Isolated Growth Hormone Deficiency;
NM_000061.3(BTK):c.1889T>A (p.Met630Lys)695BTKPathogenicrs128621210RCV000012142; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608201100608201ATX:g.100608201A>TClinGen:CA255846,UniProtKB:Q06187#VAR_006275,OMIM:300300.0048C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)695BTKLikely pathogenicrs128621210RCV001194091; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608201100608201AGX:g.100608201A>G-
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)695BTKPathogenicrs128621209RCV000012141; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608252100608252CTX:g.100608252C>TClinGen:CA255844,UniProtKB:Q06187#VAR_006272,OMIM:300300.0047C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)695BTKPathogenicrs128621208RCV000012140; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608270100608270GTX:g.100608270G>TClinGen:CA255842,UniProtKB:Q06187#VAR_006271,OMIM:300300.0046C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1784dup (p.Met596fs)695BTKPathogenicrs1603001771RCV000990915; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608305100608306CCTX:g.100608305_100608306insT-
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)695BTKPathogenic-1RCV001530181; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608309100608309CT100608309-
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)695BTKLikely pathogenicrs128621207RCV000012139; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608317100608317GTX:g.100608317G>TClinGen:CA255839,OMIM:300300.0045C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)695BTKPathogenicrs128621206RCV000012138; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608324100608324TCX:g.100608324T>CClinGen:CA255837,UniProtKB:Q06187#VAR_006265,OMIM:300300.0044C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)695BTKPathogenicrs1603001805RCV000799270|RCV000990916; NMONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608327100608327CTX:g.100608327C>T-
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg)695BTKPathogenicrs128621205RCV000012137; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608867100608867AGX:g.100608867A>GClinGen:CA255835,UniProtKB:Q06187#VAR_006262,OMIM:300300.0043C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1716dup (p.Lys573fs)695BTKLikely pathogenic-1RCV001797968; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608891100608892TTG100608891-
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)695BTKLikely pathogenicrs1926380106RCV001192717; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608895100608895ACX:g.100608895A>C-
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)695BTKPathogenicrs104894770RCV000012147|RCV000485427; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202X100608923100608923CGX:g.100608923C>GClinGen:CA255853,UniProtKB:Q06187#VAR_006259,OMIM:300300.0053CN517202 not provided;
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)695BTKPathogenicrs128621204RCV000012136|RCV000581337|RCV000816209; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100608924100608924GAX:g.100608924G>AClinGen:CA255833,UniProtKB:Q06187#VAR_006260,OMIM:300300.0042C1832241 601495 Agammaglobulinemia, non-Bruton type;
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs)695BTKLikely pathogenicrs193922126RCV000029411; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100608928100608935CTGGAAATTCX:g.100608928_100608935delClinGen:CA260192C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1631+71C>T695BTKBenign-1RCV001553990|RCV001554073|RCV001597311; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MedGen:CN517202X100609547100609547GA100609547-
NM_000061.3(BTK):c.1631+1G>T695BTKPathogenicrs1569291215RCV000012135; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100609617100609617CAX:g.100609617C>AOMIM:300300.0041C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)695BTKPathogenic/Likely pathogenicrs128620183RCV000012095|RCV000581245|RCV001204367|RCV001267912; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MedGen:CN517202X100609675100609675CTX:g.100609675C>TClinGen:CA255784,UniProtKB:Q06187#VAR_006255,OMIM:300300.0001C1832241 601495 Agammaglobulinemia, non-Bruton type;
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)695BTKPathogenicrs128621202RCV000012131|RCV000637056; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100611047100611047CTX:g.100611047C>TClinGen:CA255831,UniProtKB:Q06187#VAR_006251,OMIM:300300.0037C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)695BTKPathogenicrs128621201RCV000012130|RCV000378493|RCV000582314|RCV001061773; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202|MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100611048100611048GAX:g.100611048G>AOMIM:300300.0036,ClinGen:CA255828C1832241 601495 Agammaglobulinemia, non-Bruton type;
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg)695BTKUncertain significancers128621200RCV000012129|RCV001035091; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100611090100611090AGX:g.100611090A>GClinGen:CA255826,UniProtKB:Q06187#VAR_006247,OMIM:300300.0035C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1511A>T (p.Asp504Val)695BTKLikely pathogenicrs193922125RCV000029410; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611095100611095TAX:g.100611095T>AClinGen:CA260189C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1506C>A (p.Cys502Ter)695BTKPathogenicrs41310709RCV000012128; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611100100611100GTX:g.100611100G>TClinGen:CA255823,OMIM:300300.0034C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)695BTKPathogenicrs193922124RCV000029409; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611151100611151GTX:g.100611151G>TClinGen:CA260186C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro)695BTKLikely pathogenic-1RCV001795624; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611251100611251AG100611251-
NM_000061.3(BTK):c.1349+1G>A695BTKPathogenic-1RCV001594436; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611771100611771CT100611771-
NM_000061.3(BTK):c.1288A>G (p.Lys430Glu)695BTKPathogenicrs128620184RCV000012096; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611833100611833TCX:g.100611833T>CClinGen:CA255786,UniProtKB:Q06187#VAR_006242,OMIM:300300.0002C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter)695BTKPathogenicrs128621199RCV000012127; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611846100611846GTX:g.100611846G>TClinGen:CA255820,OMIM:300300.0033C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)695BTKBenign/Likely benignrs144079566RCV000914387|RCV000990917; NMONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611869100611869AGX:g.100611869A>G-
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro)695BTKPathogenicrs128621198RCV000012126; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100611898100611898AGX:g.100611898A>GClinGen:CA255818,UniProtKB:Q06187#VAR_006239,OMIM:300300.0032C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)695BTKPathogenic/Likely pathogenicrs1569292021RCV000780074|RCV001055303; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100612536100612536GAX:g.100612536G>A-
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)695BTKPathogenicrs28935478RCV000012099; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613318100613318TCX:g.100613318T>CClinGen:CA121429,UniProtKB:Q06187#VAR_006234,OMIM:300300.0003C4016473 Hypoagammaglobulinemia, X-linked;
NM_000061.3(BTK):c.1004T>A (p.Val335Asp)695BTKPathogenicrs1569292214RCV000757938; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613396100613396ATX:g.100613396A>T-
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser)695BTKPathogenicrs128621196RCV000012121; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613399100613399TGX:g.100613399T>GClinGen:CA255816,UniProtKB:Q06187#VAR_006232,OMIM:300300.0027C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.998A>G (p.His333Arg)695BTKLikely pathogenicrs193922133RCV000029418; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613402100613402TCX:g.100613402T>CClinGen:CA260199C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.991dup (p.Ile331fs)695BTKPathogenic-1RCV001614470; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613408100613409AAT100613408-
NM_000061.3(BTK):c.954T>C (p.Ser318=)695BTKBenignrs5991926RCV000308577|RCV000528107|RCV001001739; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MedGen:CN235283X100613625100613625AGX:g.100613625A>GClinGen:CA10473085C0271563 Isolated Growth Hormone Deficiency;
NM_000061.3(BTK):c.919A>G (p.Arg307Gly)695BTKPathogenicrs128621195RCV000012120; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613660100613660TCX:g.100613660T>CClinGen:CA255814,UniProtKB:Q06187#VAR_006231,OMIM:300300.0026C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.895-2A>G695BTKLikely pathogenicrs193922132RCV000029417; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613686100613686TCX:g.100613686T>CClinGen:CA260198C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.895-10G>A695BTKBenign/Likely benignrs370812397RCV000314569|RCV000405337; NMONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100613694100613694CTX:g.100613694C>TClinGen:CA10473087
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)695BTKPathogenicrs1555978277RCV000584540|RCV000657848|RCV000690161|RCV001001062|RCV001192716; NMONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MedGen:CN517202|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MedGen:CN169374|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100614312100614312CTX:g.100614312C>TClinGen:CA413930070C1832241 601495 Agammaglobulinemia, non-Bruton type;
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)695BTKPathogenic/Likely pathogenicrs128621194RCV000012119|RCV000768159|RCV001384086|RCV001701564; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631; MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIMX100614313100614313GAX:g.100614313G>AClinGen:CA255812,UniProtKB:Q06187#VAR_006227,OMIM:300300.0025C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.852A>G (p.Lys284=)695BTKConflicting interpretations of pathogenicityrs1057515724RCV000260615|RCV000369368; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100614323100614323TCX:g.100614323T>CClinGen:CA10645817
NM_000061.3(BTK):c.840-1G>A695BTKLikely pathogenicrs193922131RCV000029416; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100614336100614336CTX:g.100614336C>TClinGen:CA260197C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.839+1G>A695BTKPathogenicrs1569292649RCV000012117; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615075100615075CTX:g.100615075C>TOMIM:300300.0023
NM_000061.3(BTK):c.799_806del (p.Asn267fs)695BTKLikely pathogenicrs1555978412RCV000589843; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615109100615116GACATAGTTGX:g.100615109_100615116delClinGen:CA658684322
NM_000061.3(BTK):c.806del (p.Val269fs)695BTKPathogenic/Likely pathogenicrs1926614700RCV001192718|RCV001244642|RCV001546212; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MedGen:CN517202X100615109100615109GAGX:g.100615109_100615109del-
NM_000061.3(BTK):c.777-1G>A695BTKPathogenic/Likely pathogenicrs1603007942RCV000801814|RCV001796233; NMONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615139100615139CTX:g.100615139C>T-
NM_000061.3(BTK):c.777-2A>G695BTKLikely pathogenicrs193922129RCV000029414|RCV001055502; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100615140100615140TCX:g.100615140T>CClinGen:CA260195C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.777-3C>G695BTKUncertain significancers193922130RCV000029415; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615141100615141GCX:g.100615141G>CClinGen:CA260196C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.776+78G>A695BTKBenign-1RCV001554074|RCV001554075|RCV001673200; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MedGen:CN517202X100615478100615478CT100615478-
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)695BTKPathogenicrs128621193RCV000012116|RCV000583310|RCV001221640|RCV001269823; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MedGen:CN517202X100615569100615569GAX:g.100615569G>AClinGen:CA255809,OMIM:300300.0022C1832241 601495 Agammaglobulinemia, non-Bruton type;
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)695BTKPathogenicrs128621192RCV000012115; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615577100615577CTX:g.100615577C>TClinGen:CA255806,OMIM:300300.0021C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.726dup (p.Ile243fs)695BTKPathogenicrs1569292774RCV000727543; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615605100615606TTAX:g.100615605_100615606insA-
NM_000061.3(BTK):c.721dup (p.Tyr241fs)695BTKPathogenicrs1603008381RCV000990918; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615610100615611TTAX:g.100615610_100615611insA-
NM_000061.3(BTK):c.718G>T (p.Glu240Ter)695BTKPathogenicrs128621191RCV000012114; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615614100615614CAX:g.100615614C>AClinGen:CA255803,OMIM:300300.0020C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.655del (p.Val219fs)695BTKPathogenicrs1569292810RCV000780073; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615677100615677ACAX:g.100615677_100615677del-
NM_000061.3(BTK):c.653del (p.Lys218fs)695BTKPathogenicrs1569292813RCV000012113; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615679100615679CTCX:g.100615679_100615679delOMIM:300300.0019C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.642_643del (p.Ser214fs)695BTKPathogenicrs1569292818RCV000012148; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100615689100615690TCATX:g.100615689_100615690delOMIM:300300.0054C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)695BTKBenign/Likely benignrs35877704RCV000308563|RCV000356123|RCV000515112|RCV001085757; NMedGen:CN169374|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100615717100615717CAX:g.100615717C>AClinGen:CA10473139C0271563 Isolated Growth Hormone Deficiency;
NM_000061.3(BTK):c.588+2T>A695BTKLikely pathogenicrs1555978777RCV000587879; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100617159100617159ATX:g.100617159A>TClinGen:CA413933897C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs)695BTKPathogenicrs1569293253RCV000012112; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100617160100617161CCCTATGTAGX:g.100617160_100617161insCTATGTAGOMIM:300300.0018
NM_000061.3(BTK):c.588+1G>T695BTKPathogenic/Likely pathogenicrs1569293252RCV000780071|RCV001039149; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100617160100617160CAX:g.100617160C>A-
NM_000061.3(BTK):c.557dup (p.Pro187fs)695BTKPathogenicrs864321665RCV000012111|RCV000691136; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100617191100617192CCTX:g.100617191_100617192insTClinGen:CA341089,OMIM:300300.0017C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.520+15C>T695BTKConflicting interpretations of pathogenicityrs782697907RCV000265905|RCV000320999; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100617534100617534GAX:g.100617534G>AClinGen:CA10473165
NM_000061.3(BTK):c.472_475del (p.Thr158fs)695BTKPathogenicrs193922128RCV000029413|RCV000698891; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100617594100617597GCTGTGX:g.100617594_100617597delClinGen:CA260194C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.391+143dup695BTKConflicting interpretations of pathogenicityrs193922127RCV000029412|RCV001689573; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202X100624842100624843AATX:g.100624842_100624843insTClinGen:CA260193C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.389del (p.Asn130fs)695BTKPathogenicrs864321664RCV000012110; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100624988100624988GTGX:g.100624988_100624988delBTK @ LOVD:BTK_000408,ClinGen:CA341088,OMIM:300300.0016C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)695BTKLikely pathogenicrs1555980049RCV000584393|RCV000586376; NMONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100625006100625006CTX:g.100625006C>TClinGen:CA413936992
NM_000061.3(BTK):c.338T>A (p.Val113Asp)695BTKPathogenicrs128621190RCV000012109; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100625039100625039ATX:g.100625039A>TClinGen:CA255801,UniProtKB:Q06187#VAR_006225,OMIM:300300.0015C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.310-1G>C695BTKPathogenicrs864321662RCV000012107; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100625068100625068CGX:g.100625068C>GBTK @ LOVD:BTK_000414,ClinGen:CA341086,OMIM:300300.0013C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.310-2A>G695BTKPathogenicrs864321663RCV000012108; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100625069100625069TCX:g.100625069T>CBTK @ LOVD:BTK_000417,ClinGen:CA341087,OMIM:300300.0014
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)695BTKPathogenicrs1927036604RCV001250190; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100626630100626630ATX:g.100626630A>T-
NM_000061.3(BTK):c.240G>A (p.Pro80=)695BTKLikely pathogenicrs1569296295RCV000780072|RCV001027548; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MeSH:D000081207,MedGen:C5197805X100629524100629524CTX:g.100629524C>T-
NM_000061.3(BTK):c.233del (p.Gln78fs)695BTKLikely pathogenic-1RCV001375563; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100629531100629531CTC100629530-
NM_000061.3(BTK):c.228_231del (p.Glu76fs)695BTKPathogenicrs864321660RCV000012105; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100629533100629536GTCTTGX:g.100629533_100629536delBTK @ LOVD:BTK_000641,ClinGen:CA341084,OMIM:300300.0011C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.215dup (p.Asn72fs)695BTKPathogenicrs886041148RCV000317789|RCV000811748|RCV000781189; NMedGen:CN517202|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100629548100629549AATX:g.100629548_100629549insTClinGen:CA10603700
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)695BTKPathogenicrs1603019594RCV000780070|RCV000810868; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100629583100629585ATCTAX:g.100629583_100629585del-
NM_000061.3(BTK):c.164C>A (p.Ser55Ter)695BTKLikely pathogenicrs1555980796RCV000589435; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100629600100629600GTX:g.100629600G>TClinGen:CA413939060
NM_000061.3(BTK):c.141+11C>T695BTKConflicting interpretations of pathogenicityrs138411530RCV000224614|RCV000445094|RCV000266994|RCV000380244|RCV000660378; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47; MONDO:MOX100630121100630121GAX:g.100630121G>AClinGen:CA10473231C0271563 Isolated Growth Hormone Deficiency;
NM_000061.3(BTK):c.141+3_141+4del695BTKPathogenicrs864321661RCV000012106; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100630128100630129CTTCX:g.100630128_100630129delBTK @ LOVD:BTK_000331,ClinGen:CA341085,OMIM:300300.0012
NM_000061.3(BTK):c.100G>A (p.Val34Met)695BTKUncertain significancers141488935RCV001169612|RCV001169613; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100630173100630173CTX:g.100630173C>T-
NM_000061.3(BTK):c.97A>C (p.Thr33Pro)695BTKPathogenicrs128620189RCV000012104; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100630176100630176TGX:g.100630176T>GClinGen:CA255799,UniProtKB:Q06187#VAR_006222,OMIM:300300.0010C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.83G>A (p.Arg28His)695BTKPathogenicrs128620185RCV000012101|RCV000427660|RCV000583846|RCV000819061; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202|MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100630190100630190CTX:g.100630190C>TOMIM:300300.0005,ClinGen:CA255794,UniProtKB:Q06187#VAR_006220C1832241 601495 Agammaglobulinemia, non-Bruton type;
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)695BTKLikely pathogenicrs128620188RCV000012098|RCV001027550; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MeSH:D000081207,MedGen:C5197805X100630230100630230GAX:g.100630230G>AClinGen:CA255791,OMIM:300300.0009C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.37C>T (p.Arg13Ter)695BTKPathogenicrs128620187RCV000012097; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100630236100630236GAX:g.100630236G>AClinGen:CA255788,OMIM:300300.0008C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.36G>T (p.Lys12Asn)695BTKLikely pathogenicrs782519139RCV000990919; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100630237100630237CAX:g.100630237C>A-
NM_000061.3(BTK):c.2T>C (p.Met1Thr)695BTKPathogenicrs128620186RCV000012102; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100630271100630271AGX:g.100630271A>GClinGen:CA255796,OMIM:300300.0006C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.-31+5G>A695BTKPathogenicrs1131691354RCV000012149; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47X100641045100641045CTX:g.100641045C>TOMIM:300300.0055C0221026 300755 X-linked agammaglobulinemia;
NM_000061.3(BTK):c.-87C>T695BTKUncertain significancers1927601892RCV001169614|RCV001169615; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100641106100641106GAX:g.100641106G>A-
NM_000061.3(BTK):c.-105G>T695BTKUncertain significancers1034801451RCV000326670|RCV000381316; NMONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:631X100641124100641124CAX:g.100641124C>AClinGen:CA10653716
MSeqDR Portal