ClinVar Miner

List of variants in gene BTK reported as pathogenic for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP
BTK, 1-BP DEL, 1720A
BTK, 1-BP DEL, IVS11DS, +1G
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 16-BP INS, NT1263
BTK, 26-BP INS, NT2019
BTK, 4-BP DEL, CODON 527, GTTT
BTK, 6-BP INS, NT2041
BTK, 6.1-KB DEL
BTK, IVS12AS, A-T, -2
NM_000061.2(BTK):c.-31+5G>A
NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) rs128621196
NM_000061.2(BTK):c.1004T>A (p.Val335Asp) rs1569292214
NM_000061.2(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.2(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.2(BTK):c.1223T>C (p.Leu408Pro) rs128621198
NM_000061.2(BTK):c.1275C>A (p.Tyr425Ter) rs128621199
NM_000061.2(BTK):c.1288A>G (p.Lys430Glu) rs128620184
NM_000061.2(BTK):c.141+3_141+4del rs864321661
NM_000061.2(BTK):c.141+3_141+6del rs1555980866
NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.2(BTK):c.1506C>A (p.Cys502Ter) rs41310709
NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.2(BTK):c.1567-2A>T rs1555977598
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.2(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.2(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.2(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.2(BTK):c.1631+1G>T rs1569291215
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.2(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) rs128621205
NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) rs128621206
NM_000061.2(BTK):c.176_178AGA[1] (p.Lys60del)
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) rs128621208
NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.2(BTK):c.1889T>A (p.Met630Lys) rs128621210
NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) rs128622211
NM_000061.2(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) rs128622212
NM_000061.2(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.2(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.2(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.2(BTK):c.310-1G>C rs864321662
NM_000061.2(BTK):c.310-2A>G rs864321663
NM_000061.2(BTK):c.338T>A (p.Val113Asp) rs128621190
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.2(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.2(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.2(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.2(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs) rs1569293253
NM_000061.2(BTK):c.642_643del (p.Ser214fs) rs1569292818
NM_000061.2(BTK):c.653del (p.Lys218fs) rs1569292813
NM_000061.2(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.2(BTK):c.718G>T (p.Glu240Ter) rs128621191
NM_000061.2(BTK):c.726dup (p.Ile243fs) rs1569292774
NM_000061.2(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.2(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.2(BTK):c.839+1G>A rs1569292649
NM_000061.2(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.2(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.2(BTK):c.919A>G (p.Arg307Gly) rs128621195
NM_000061.2(BTK):c.953C>T (p.Ser318Phe) rs1555978197
NM_000061.2(BTK):c.97A>C (p.Thr33Pro) rs128620189

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