Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000061.3(BTK):c.*390G>A | 695 | BTK | Uncertain significance | 782012349 | RCV001253982|RCV001253960; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100604483 | 100604483 | | | X:g.100604483C>T | - | | |
NM_000061.3(BTK):c.*334TG[4] | 695 | BTK | Likely benign | 200445244 | RCV000276267|RCV000317410; | N | MONDO:MONDO:0000050,MedGen:C5679572,OMIM:PS262400, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100604530 | 100604531 | | | X:g.100604530_100604531del | ClinGen:CA10651584 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.*342T>G | 695 | BTK | Uncertain significance | 781937023 | RCV000282023|RCV000371943; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100604531 | 100604531 | | | X:g.100604531A>C | ClinGen:CA10653713 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.*334T>G | 695 | BTK | Benign | 183674618 | RCV000318456|RCV000377727; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100604539 | 100604539 | | | X:g.100604539A>C | ClinGen:CA10645814 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.*221G>T | 695 | BTK | Benign | 1122765 | RCV001165566|RCV001165567; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100604652 | 100604652 | | | X:g.100604652C>A | - | | |
NM_000061.3(BTK):c.*192G>A | 695 | BTK | Benign | 1057403 | RCV000283042|RCV000342738; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100604681 | 100604681 | | | NC_000023.10:g.100604681C>T | ClinGen:CA10653714 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.*116A>C | 695 | BTK | Benign | 700 | RCV000289032|RCV000407071|RCV001597128; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:C3661900 | X | 100604757 | 100604757 | | | NC_000023.10:g.100604757T>G | ClinGen:CA10654228 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.1977C>T (p.Ser659=) | 695 | BTK | Conflicting interpretations of pathogenicity | 782047787 | RCV001167164|RCV001167165; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100604876 | 100604876 | | | X:g.100604876G>A | - | | |
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro) | 695 | BTK | Pathogenic | 128622212 | RCV000012145; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100604898 | 100604898 | | | X:g.100604898A>G | ClinGen:CA255851,UniProtKB:Q06187#VAR_006281,OMIM:300300.0051 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1909-9T>C | 695 | BTK | Conflicting interpretations of pathogenicity | 782702231 | RCV000175387|RCV000637057|RCV001167166; | N | MedGen:CN169374|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100604953 | 100604953 | | | X:g.100604953A>G | ClinGen:CA201434 | CN169374 not specified; | |
NM_000061.3(BTK):c.894+191_1908+163del | 695 | BTK | Pathogenic | -1 | RCV000012150; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608019 | 100614090 | | | 100608018 | OMIM:300300.0056 | | |
NM_000061.3(BTK):c.1906G>T (p.Glu636Ter) | 695 | BTK | Pathogenic | 128622211 | RCV000012143; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608184 | 100608184 | | | X:g.100608184C>A | ClinGen:CA255848,OMIM:300300.0049 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1900T>C (p.Trp634Arg) | 695 | BTK | Uncertain significance | -1 | RCV003340928; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608190 | 100608190 | | | | - | | |
NM_000061.3(BTK):c.1899C>T (p.Cys633=) | 695 | BTK | Benign | 1135363 | RCV000254181|RCV000343690|RCV000407074|RCV003114414; | N | MedGen:CN169374|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:C3661900 | X | 100608191 | 100608191 | | | X:g.100608191G>A | ClinGen:CA10472960 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.1889T>A (p.Met630Lys) | 695 | BTK | Pathogenic | 128621210 | RCV000012142; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608201 | 100608201 | | | X:g.100608201A>T | ClinGen:CA255846,UniProtKB:Q06187#VAR_006275,OMIM:300300.0048 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) | 695 | BTK | Likely pathogenic | 128621210 | RCV001194091; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608201 | 100608201 | | | X:g.100608201A>G | - | | |
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) | 695 | BTK | Likely pathogenic | 128621209 | RCV000012141; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608252 | 100608252 | | | X:g.100608252C>T | ClinGen:CA255844,UniProtKB:Q06187#VAR_006272,OMIM:300300.0047 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter) | 695 | BTK | Pathogenic | -1 | RCV002319758; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608256 | 100608256 | | | 100608256 | - | | |
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp) | 695 | BTK | Pathogenic | 128621208 | RCV000012140; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608270 | 100608270 | | | X:g.100608270G>T | ClinGen:CA255842,UniProtKB:Q06187#VAR_006271,OMIM:300300.0046 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn) | 695 | BTK | Pathogenic | 2147424169 | RCV001824256; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608298 | 100608298 | | | 100608298 | - | | |
NM_000061.3(BTK):c.1784dup (p.Met596fs) | 695 | BTK | Pathogenic | 1603001771 | RCV000990915; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608305 | 100608306 | | | X:g.100608305_100608306insT | - | | |
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu) | 695 | BTK | Pathogenic | 2147424186 | RCV001530181; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608309 | 100608309 | | | 100608309 | - | | |
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) | 695 | BTK | Pathogenic | 1555977339 | RCV000507546|RCV001857258|RCV003150249; | N | MedGen:CN169374|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608310 | 100608310 | | | X:g.100608310C>T | ClinGen:CA413919441 | CN169374 not specified; | |
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) | 695 | BTK | Likely pathogenic | 128621207 | RCV000012139; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608317 | 100608317 | | | X:g.100608317G>T | ClinGen:CA255839,OMIM:300300.0045 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly) | 695 | BTK | Pathogenic | 128621206 | RCV000012138; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608324 | 100608324 | | | X:g.100608324T>C | UniProtKB:Q06187#VAR_006265,OMIM:300300.0044,ClinGen:CA255837 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) | 695 | BTK | Pathogenic | 1603001805 | RCV000799270|RCV000990916; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608327 | 100608327 | | | X:g.100608327C>T | - | | |
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg) | 695 | BTK | Pathogenic | 128621205 | RCV000012137; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608867 | 100608867 | | | X:g.100608867A>G | ClinGen:CA255835,UniProtKB:Q06187#VAR_006262,OMIM:300300.0043 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1716dup (p.Lys573fs) | 695 | BTK | Likely pathogenic | 2147424879 | RCV001797968; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608891 | 100608892 | | | 100608891 | - | | |
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) | 695 | BTK | Likely pathogenic | 1926380106 | RCV001192717; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608895 | 100608895 | | | X:g.100608895A>C | - | | |
NM_000061.3(BTK):c.1690T>C (p.Ser564Pro) | 695 | BTK | Uncertain significance | 2147424985 | RCV002208767; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47; MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100608918 | 100608918 | | | 100608918 | - | | |
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro) | 695 | BTK | Pathogenic | 104894770 | RCV000012147|RCV000485427; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202 | X | 100608923 | 100608923 | | | X:g.100608923C>G | ClinGen:CA255853,UniProtKB:Q06187#VAR_006259,OMIM:300300.0053 | CN517202 not provided; | |
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln) | 695 | BTK | Likely pathogenic | -1 | RCV003140461; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608923 | 100608923 | | | NC_000023.10:g.100608923C>T | - | | |
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) | 695 | BTK | Pathogenic | 128621204 | RCV000012136|RCV000581337|RCV000816209; | N | MONDO: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:231692, Orphanet:631 | X | 100608924 | 100608924 | | | X:g.100608924G>A | UniProtKB:Q06187#VAR_006260,OMIM:300300.0042,ClinGen:CA255833 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) | 695 | BTK | Likely pathogenic | 193922126 | RCV000029411; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608928 | 100608935 | | | X:g.100608928_100608935del | ClinGen:CA260192 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1632-2A>T | 695 | BTK | Pathogenic | 886039555 | RCV002243534; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100608978 | 100608978 | | | 100608978 | - | | |
NM_000061.3(BTK):c.1631+71C>T | 695 | BTK | Benign | 2071223 | RCV001553990|RCV001554073|RCV001597311; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:C3661900 | X | 100609547 | 100609547 | | | 100609547 | - | | |
NM_000061.3(BTK):c.1631+1G>T | 695 | BTK | Pathogenic | 1569291215 | RCV000012135; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100609617 | 100609617 | | | X:g.100609617C>A | OMIM:300300.0041 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1589del (p.Asn530fs) | 695 | BTK | Pathogenic | 2147425836 | RCV000012132; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100609660 | 100609660 | | | 100609659 | OMIM:300300.0038 | | |
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) | 695 | BTK | Pathogenic | 1555977592 | RCV000582912|RCV000637053|RCV001008113|RCV002266990; | N | MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:CN517202|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100609665 | 100609668 | | | X:g.100609665_100609668del | ClinGen:CA658684320,OMIM:300300.0039 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) | 695 | BTK | Pathogenic/Likely pathogenic | 128620183 | RCV000012095|RCV000581245|RCV001204367|RCV001267912; | N | MONDO: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:231692, Orphanet:631|MedGen:CN517202 | X | 100609675 | 100609675 | | | X:g.100609675C>T | ClinGen:CA255784,UniProtKB:Q06187#VAR_006255,OMIM:300300.0001 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) | 695 | BTK | Pathogenic | 128621202 | RCV000012131|RCV000637056|RCV002482855; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47; MONDO:MONDO:0010615,MedG | X | 100611047 | 100611047 | | | X:g.100611047C>T | ClinGen:CA255831,UniProtKB:Q06187#VAR_006251,OMIM:300300.0037 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) | 695 | BTK | Pathogenic | 128621201 | RCV000012130|RCV000378493|RCV000582314|RCV001061773; | N | MONDO: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:231692, Orphanet:631 | X | 100611048 | 100611048 | | | X:g.100611048G>A | ClinGen:CA255828,OMIM:300300.0036 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) | 695 | BTK | Pathogenic | 1569291644 | RCV000692851|RCV003224377; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631; MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611080 | 100611080 | | | X:g.100611080A>G | - | C0472813 307200 X-linked agammaglobulinemia with growth hormone deficiency; | |
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) | 695 | BTK | Uncertain significance | 128621200 | RCV000012129|RCV001035091; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100611090 | 100611090 | | | X:g.100611090A>G | ClinGen:CA255826,UniProtKB:Q06187#VAR_006247,OMIM:300300.0035 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1511A>T (p.Asp504Val) | 695 | BTK | Likely pathogenic | 193922125 | RCV000029410; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611095 | 100611095 | | | X:g.100611095T>A | ClinGen:CA260189 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1506C>A (p.Cys502Ter) | 695 | BTK | Pathogenic | 41310709 | RCV000012128; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611100 | 100611100 | | | X:g.100611100G>T | ClinGen:CA255823,OMIM:300300.0034 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1475G>A (p.Arg492His) | 695 | BTK | Conflicting interpretations of pathogenicity | 782338603 | RCV000581533|RCV002483556|RCV002530824; | N | MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47; MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200,Orph | X | 100611131 | 100611131 | | | X:g.100611131C>T | ClinGen:CA333096804 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter) | 695 | BTK | Pathogenic | 193922124 | RCV000029409; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611151 | 100611151 | | | X:g.100611151G>T | ClinGen:CA260186 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) | 695 | BTK | Likely pathogenic | 2147427580 | RCV001795624; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611251 | 100611251 | | | 100611251 | - | | |
NM_000061.3(BTK):c.1349+1G>A | 695 | BTK | Pathogenic | 2147428155 | RCV001594436; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611771 | 100611771 | | | 100611771 | - | | |
NM_000061.3(BTK):c.1288A>G (p.Lys430Glu) | 695 | BTK | Pathogenic | 128620184 | RCV000012096; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611833 | 100611833 | | | X:g.100611833T>C | ClinGen:CA255786,UniProtKB:Q06187#VAR_006242,OMIM:300300.0002 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter) | 695 | BTK | Pathogenic | 128621199 | RCV000012127; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611846 | 100611846 | | | X:g.100611846G>T | ClinGen:CA255820,OMIM:300300.0033 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1257del (p.Lys420fs) | 695 | BTK | Pathogenic | 2147428293 | RCV002273124; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611864 | 100611864 | | | 100611863 | - | | |
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) | 695 | BTK | Benign/Likely benign | 144079566 | RCV000914387|RCV000990917|RCV001818852; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN169374 | X | 100611869 | 100611869 | | | X:g.100611869A>G | - | | |
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro) | 695 | BTK | Pathogenic | 128621198 | RCV000012126; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100611898 | 100611898 | | | X:g.100611898A>G | ClinGen:CA255818,UniProtKB:Q06187#VAR_006239,OMIM:300300.0032 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) | 695 | BTK | Pathogenic | 782429199 | RCV002243533|RCV003093931; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100612498 | 100612498 | | | 100612498 | - | | |
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) | 695 | BTK | Pathogenic | 1569292021 | RCV000780074|RCV001055303; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100612536 | 100612536 | | | NC_000023.10:g.100612536G>A | - | | |
NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs) | 695 | BTK | Pathogenic | 2147429013 | RCV000012125; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100612542 | 100612543 | | | 100612542 | LOVD 3:BTK_000748,OMIM:300300.0031 | | |
NM_000061.3(BTK):c.1103-2A>G | 695 | BTK | Pathogenic/Likely pathogenic | 1603005659 | RCV001001214|RCV001869427|RCV002549158; | N | MedGen:CN169374|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100612573 | 100612573 | | | X:g.100612573T>C | LOVD 3:BTK_000360,OMIM:300300.0029 | | |
NM_000061.3(BTK):c.1103-11C>G | 695 | BTK | Benign/Likely benign | 782217532 | RCV002076471|RCV002494342; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47; MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100612582 | 100612582 | | | 100612582 | - | | |
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) | 695 | BTK | Pathogenic | 28935478 | RCV000012099; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613318 | 100613318 | | | X:g.100613318T>C | ClinGen:CA121429,UniProtKB:Q06187#VAR_006234,OMIM:300300.0003 | C4016473 Hypoagammaglobulinemia, X-linked; | |
NM_000061.3(BTK):c.1004T>A (p.Val335Asp) | 695 | BTK | Pathogenic | 1569292214 | RCV000757938; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613396 | 100613396 | | | NC_000023.10:g.100613396A>T | - | | |
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser) | 695 | BTK | Pathogenic | 128621196 | RCV000012121; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613399 | 100613399 | | | X:g.100613399T>G | ClinGen:CA255816,UniProtKB:Q06187#VAR_006232,OMIM:300300.0027 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.998A>G (p.His333Arg) | 695 | BTK | Conflicting interpretations of pathogenicity | 193922133 | RCV000029418|RCV002513238; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100613402 | 100613402 | | | X:g.100613402T>C | ClinGen:CA260199 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.991dup (p.Ile331fs) | 695 | BTK | Pathogenic | 2147429948 | RCV001614470; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613408 | 100613409 | | | 100613408 | - | | |
NM_000061.3(BTK):c.974+1del | 695 | BTK | Pathogenic | 2147430166 | RCV000012122; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613604 | 100613604 | | | 100613603 | OMIM:300300.0028 | | |
NM_000061.3(BTK):c.954T>C (p.Ser318=) | 695 | BTK | Benign | 5991926 | RCV000308577|RCV000528107|RCV001810869; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:C3661900 | X | 100613625 | 100613625 | | | X:g.100613625A>G | ClinGen:CA10473085 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.919A>G (p.Arg307Gly) | 695 | BTK | Pathogenic | 128621195 | RCV000012120; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613660 | 100613660 | | | X:g.100613660T>C | ClinGen:CA255814,UniProtKB:Q06187#VAR_006231,OMIM:300300.0026 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.904G>A (p.Gly302Arg) | 695 | BTK | Likely pathogenic | -1 | RCV002290390; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613675 | 100613675 | | | 100613675 | - | | |
NM_000061.3(BTK):c.895-2A>G | 695 | BTK | Pathogenic/Likely pathogenic | 193922132 | RCV000029417|RCV001852584; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100613686 | 100613686 | | | X:g.100613686T>C | ClinGen:CA260198 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.895-2del | 695 | BTK | Pathogenic | 2147430256 | RCV001810518; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100613686 | 100613686 | | | 100613685 | - | | |
NM_000061.3(BTK):c.895-10G>A | 695 | BTK | Benign/Likely benign | 370812397 | RCV000314569|RCV000405337|RCV001821126; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN169374 | X | 100613694 | 100613694 | | | NC_000023.10:g.100613694C>T | ClinGen:CA10473087 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) | 695 | BTK | Pathogenic | 1555978277 | RCV000584540|RCV000657848|RCV000690161|RCV001001062|RCV001192716; | N | MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MedGen:CN517202|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:CN169374|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100614312 | 100614312 | | | X:g.100614312C>T | ClinGen:CA413930070 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) | 695 | BTK | Pathogenic/Likely pathogenic | 128621194 | RCV000012119|RCV000768159|RCV001384086|RCV001701564; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47; MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010615,MedG | X | 100614313 | 100614313 | | | X:g.100614313G>A | ClinGen:CA255812,UniProtKB:Q06187#VAR_006227,OMIM:300300.0025 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.852A>G (p.Lys284=) | 695 | BTK | Conflicting interpretations of pathogenicity | 1057515724 | RCV000260615|RCV000369368; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100614323 | 100614323 | | | NC_000023.10:g.100614323T>C | ClinGen:CA10645817 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.842G>A (p.Trp281Ter) | 695 | BTK | Likely pathogenic | 2147431031 | RCV002243532; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100614333 | 100614333 | | | 100614333 | - | | |
NM_000061.3(BTK):c.840-1G>A | 695 | BTK | Likely pathogenic | 193922131 | RCV000029416|RCV002513237; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100614336 | 100614336 | | | X:g.100614336C>T | ClinGen:CA260197 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.839+1G>A | 695 | BTK | Pathogenic | 1569292649 | RCV000012117; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615075 | 100615075 | | | NC_000023.10:g.100615075C>T | OMIM:300300.0023 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.839+1G>C | 695 | BTK | Likely pathogenic | 1569292649 | RCV002052261|RCV002551234; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100615075 | 100615075 | | | 100615075 | - | | |
NM_000061.3(BTK):c.829G>T (p.Glu277Ter) | 695 | BTK | Pathogenic | 868983143 | RCV001822089; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615086 | 100615086 | | | 100615086 | - | | |
NM_000061.3(BTK):c.799_806del (p.Asn267fs) | 695 | BTK | Likely pathogenic | 1555978412 | RCV000589843; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615109 | 100615116 | | | NC_000023.10:g.100615111_100615118del | ClinGen:CA658684322 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.806del (p.Val269fs) | 695 | BTK | Pathogenic/Likely pathogenic | 1926614700 | RCV001192718|RCV001546212|RCV001244642; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:CN517202|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100615109 | 100615109 | | | X:g.100615109_100615109del | - | | |
NM_000061.3(BTK):c.777-1G>A | 695 | BTK | Pathogenic/Likely pathogenic | 1603007942 | RCV000801814|RCV001796233; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615139 | 100615139 | | | X:g.100615139C>T | - | | |
NM_000061.3(BTK):c.777-2A>G | 695 | BTK | Pathogenic/Likely pathogenic | 193922129 | RCV000029414|RCV001055502; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100615140 | 100615140 | | | X:g.100615140T>C | ClinGen:CA260195 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.777-3C>G | 695 | BTK | Uncertain significance | 193922130 | RCV000029415; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615141 | 100615141 | | | X:g.100615141G>C | ClinGen:CA260196 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.776+78G>A | 695 | BTK | Benign | 2855259 | RCV001554074|RCV001554075|RCV001673200; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:C3661900 | X | 100615478 | 100615478 | | | 100615478 | - | | |
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) | 695 | BTK | Pathogenic | 128621193 | RCV000012116|RCV000583310|RCV001221640|RCV001269823; | N | MONDO: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:231692, Orphanet:631|MedGen:C3661900 | X | 100615569 | 100615569 | | | X:g.100615569G>A | ClinGen:CA255809,OMIM:300300.0022 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) | 695 | BTK | Pathogenic | 128621192 | RCV000012115; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615577 | 100615577 | | | X:g.100615577C>T | ClinGen:CA255806,OMIM:300300.0021 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.726dup (p.Ile243fs) | 695 | BTK | Pathogenic | 1569292774 | RCV000727543; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615605 | 100615606 | | | NC_000023.10:g.100615609dup | - | | |
NM_000061.3(BTK):c.721dup (p.Tyr241fs) | 695 | BTK | Pathogenic | 1603008381 | RCV000990918; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615610 | 100615611 | | | X:g.100615610_100615611insA | - | | |
NM_000061.3(BTK):c.720A>C (p.Glu240Asp) | 695 | BTK | Uncertain significance | 141590686 | RCV000534777|RCV002272281|RCV003419941; | N | MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47| | X | 100615612 | 100615612 | | | NC_000023.10:g.100615612T>G | ClinGen:CA10473130 | C0472813 307200 X-linked agammaglobulinemia with growth hormone deficiency; | |
NM_000061.3(BTK):c.718G>T (p.Glu240Ter) | 695 | BTK | Pathogenic | 128621191 | RCV000012114; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615614 | 100615614 | | | X:g.100615614C>A | ClinGen:CA255803,OMIM:300300.0020 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.655del (p.Val219fs) | 695 | BTK | Pathogenic | 1569292810 | RCV000780073; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615677 | 100615677 | | | NC_000023.10:g.100615678del | - | | |
NM_000061.3(BTK):c.653del (p.Lys218fs) | 695 | BTK | Pathogenic | 1569292813 | RCV000012113; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615679 | 100615679 | | | X:g.100615679_100615679del | OMIM:300300.0019 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.642_643del (p.Ser214fs) | 695 | BTK | Pathogenic | 1569292818 | RCV000012148; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100615689 | 100615690 | | | X:g.100615689_100615690del | OMIM:300300.0054 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) | 695 | BTK | Benign/Likely benign | 35877704 | RCV000308563|RCV000356123|RCV000515112|RCV001085757|RCV002494857; | N | MedGen:CN169374|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:C3661900|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692,Orph | X | 100615717 | 100615717 | | | X:g.100615717C>A | ClinGen:CA10473139 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.588+2T>A | 695 | BTK | Likely pathogenic | 1555978777 | RCV000587879; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100617159 | 100617159 | | | X:g.100617159A>T | ClinGen:CA413933897 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.588+2T>C | 695 | BTK | Pathogenic | -1 | RCV003142242; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100617159 | 100617159 | | | NC_000023.10:g.100617159A>G | - | | |
NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs) | 695 | BTK | Pathogenic | 1569293253 | RCV000012112; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100617160 | 100617161 | | | NC_000023.10:g.100617162_100617163insATGTAGCT | OMIM:300300.0018 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.588+1G>T | 695 | BTK | Pathogenic/Likely pathogenic | 1569293252 | RCV000780071|RCV001039149; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100617160 | 100617160 | | | NC_000023.10:g.100617160C>A | - | | |
NM_000061.3(BTK):c.557dup (p.Pro187fs) | 695 | BTK | Pathogenic | 864321665 | RCV000012111|RCV000691136; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100617191 | 100617192 | | | X:g.100617191_100617192insT | ClinGen:CA341089,OMIM:300300.0017 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.520+15C>T | 695 | BTK | Conflicting interpretations of pathogenicity | 782697907 | RCV000265905|RCV000320999|RCV003430977; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:C3661900 | X | 100617534 | 100617534 | | | NC_000023.10:g.100617534G>A | ClinGen:CA10473165 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.472_475del (p.Thr158fs) | 695 | BTK | Pathogenic | 193922128 | RCV000029413|RCV000698891; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100617594 | 100617597 | | | X:g.100617594_100617597del | ClinGen:CA260194 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.389del (p.Asn130fs) | 695 | BTK | Pathogenic | 864321664 | RCV000012110; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100624988 | 100624988 | | | X:g.100624988_100624988del | BTK @ LOVD:BTK_000408,ClinGen:CA341088,OMIM:300300.0016 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.372G>T (p.Trp124Cys) | 695 | BTK | Likely pathogenic | -1 | RCV002283934; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100625005 | 100625005 | | | 100625005 | - | | |
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) | 695 | BTK | Likely pathogenic | 1555980049 | RCV000584393|RCV000586376; | N | MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100625006 | 100625006 | | | NC_000023.10:g.100625006C>T | ClinGen:CA413936992 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.338T>A (p.Val113Asp) | 695 | BTK | Pathogenic | 128621190 | RCV000012109; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100625039 | 100625039 | | | X:g.100625039A>T | ClinGen:CA255801,UniProtKB:Q06187#VAR_006225,OMIM:300300.0015 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.310-1G>C | 695 | BTK | Pathogenic | 864321662 | RCV000012107; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100625068 | 100625068 | | | X:g.100625068C>G | BTK @ LOVD:BTK_000414,ClinGen:CA341086,OMIM:300300.0013 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.310-2A>G | 695 | BTK | Pathogenic | 864321663 | RCV000012108; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100625069 | 100625069 | | | NC_000023.10:g.100625069T>C | BTK @ LOVD:BTK_000417,ClinGen:CA341087,OMIM:300300.0014 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) | 695 | BTK | Pathogenic | 1927036604 | RCV001250190; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100626630 | 100626630 | | | X:g.100626630A>T | - | | |
NM_000061.3(BTK):c.280del (p.Ile94fs) | 695 | BTK | Pathogenic | -1 | RCV003236272; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100626650 | 100626650 | | | | - | | |
NM_000061.3(BTK):c.271C>T (p.Gln91Ter) | 695 | BTK | Pathogenic | -1 | RCV003140473; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100626659 | 100626659 | | | NC_000023.10:g.100626659G>A | - | | |
NM_000061.3(BTK):c.240G>A (p.Pro80=) | 695 | BTK | Conflicting interpretations of pathogenicity | 1569296295 | RCV000780072|RCV001027548|RCV001873186; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MeSH:D000081207,MedGen:C5197805|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100629524 | 100629524 | | | NC_000023.10:g.100629524C>T | - | | |
NM_000061.3(BTK):c.233del (p.Gln78fs) | 695 | BTK | Likely pathogenic | 2147447513 | RCV001375563; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100629531 | 100629531 | | | 100629530 | - | | |
NM_000061.3(BTK):c.228_231del (p.Glu76fs) | 695 | BTK | Pathogenic | 864321660 | RCV000012105; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100629533 | 100629536 | | | X:g.100629533_100629536del | BTK @ LOVD:BTK_000641,ClinGen:CA341084,OMIM:300300.0011 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.215dup (p.Asn72fs) | 695 | BTK | Pathogenic | 886041148 | RCV000317789|RCV000811748|RCV000781189; | N | MedGen:CN517202|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100629548 | 100629549 | | | NC_000023.10:g.100629555dup | ClinGen:CA10603700 | CN517202 not provided; | |
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) | 695 | BTK | Pathogenic | 1603019594 | RCV000780070|RCV000810868; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100629583 | 100629585 | | | X:g.100629583_100629585del | - | | |
NM_000061.3(BTK):c.164dup (p.Ile56fs) | 695 | BTK | Pathogenic | 2147447605 | RCV002243535; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100629599 | 100629600 | | | 100629599 | - | | |
NM_000061.3(BTK):c.164C>A (p.Ser55Ter) | 695 | BTK | Likely pathogenic | 1555980796 | RCV000589435; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100629600 | 100629600 | | | NC_000023.10:g.100629600G>T | ClinGen:CA413939060 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.141+11C>T | 695 | BTK | Conflicting interpretations of pathogenicity | 138411530 | RCV000224614|RCV000266994|RCV000380244|RCV000445094|RCV000660378; | N | MedGen:C3661900|MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:CN169374|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692,Orph | X | 100630121 | 100630121 | | | X:g.100630121G>A | ClinGen:CA10473231 | C0271563 Isolated Growth Hormone Deficiency; | |
NM_000061.3(BTK):c.141+3_141+4del | 695 | BTK | Pathogenic | 864321661 | RCV000012106; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100630128 | 100630129 | | | NC_000023.10:g.100630128_100630129del | BTK @ LOVD:BTK_000331,ClinGen:CA341085,OMIM:300300.0012 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter) | 695 | BTK | Pathogenic | 2147448164 | RCV002243536; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100630147 | 100630147 | | | 100630147 | - | | |
NM_000061.3(BTK):c.119_120dup (p.Glu41fs) | 695 | BTK | Likely pathogenic | -1 | RCV003326717; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100630152 | 100630153 | | | | - | | |
NM_000061.3(BTK):c.100G>A (p.Val34Met) | 695 | BTK | Uncertain significance | 141488935 | RCV001169612|RCV001169613|RCV003163371; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631|MedGen:CN517202 | X | 100630173 | 100630173 | | | X:g.100630173C>T | - | | |
NM_000061.3(BTK):c.97A>C (p.Thr33Pro) | 695 | BTK | Pathogenic | 128620189 | RCV000012104; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100630176 | 100630176 | | | X:g.100630176T>G | ClinGen:CA255799,UniProtKB:Q06187#VAR_006222,OMIM:300300.0010 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.83G>A (p.Arg28His) | 695 | BTK | Pathogenic | 128620185 | RCV000012101|RCV000427660|RCV000583846|RCV000819061; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MedGen:C3661900|MONDO:MONDO:0020729,MedGen:C3152144,OMIM:601495|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100630190 | 100630190 | | | X:g.100630190C>T | ClinGen:CA255794,UniProtKB:Q06187#VAR_006220,OMIM:300300.0005 | C1832241 601495 Agammaglobulinemia, non-Bruton type; | |
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) | 695 | BTK | Pathogenic/Likely pathogenic | 128620188 | RCV000012098|RCV001027550|RCV002512977; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MeSH:D000081207,MedGen:C5197805|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100630230 | 100630230 | | | X:g.100630230G>A | ClinGen:CA255791,OMIM:300300.0009 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.37C>T (p.Arg13Ter) | 695 | BTK | Pathogenic | 128620187 | RCV000012097; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100630236 | 100630236 | | | X:g.100630236G>A | ClinGen:CA255788,OMIM:300300.0008 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.36G>T (p.Lys12Asn) | 695 | BTK | Likely pathogenic | 782519139 | RCV000990919; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100630237 | 100630237 | | | X:g.100630237C>A | - | | |
NM_000061.3(BTK):c.2T>C (p.Met1Thr) | 695 | BTK | Pathogenic | 128620186 | RCV000012102; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100630271 | 100630271 | | | X:g.100630271A>G | ClinGen:CA255796,OMIM:300300.0006 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.-31+5G>A | 695 | BTK | Pathogenic | 1131691354 | RCV000012149; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47 | X | 100641045 | 100641045 | | | X:g.100641045C>T | OMIM:300300.0055 | C0221026 300755 X-linked agammaglobulinemia; | |
NM_000061.3(BTK):c.-87C>T | 695 | BTK | Uncertain significance | 1927601892 | RCV001169614|RCV001169615; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100641106 | 100641106 | | | X:g.100641106G>A | - | | |
NM_000061.3(BTK):c.-105G>T | 695 | BTK | Uncertain significance | 1034801451 | RCV000326670|RCV000381316; | N | MONDO:MONDO:0010421,MedGen:C0221026,OMIM:300755, Orphanet:229717, Orphanet:47|MONDO:MONDO:0010615,MedGen:C0472813,OMIM:307200, Orphanet:231692, Orphanet:631 | X | 100641124 | 100641124 | | | NC_000023.10:g.100641124C>A | ClinGen:CA10653716 | C0271563 Isolated Growth Hormone Deficiency; | |