List of variants in gene BTK reported as pathogenic for B cell deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 26-BP INS, NT2019
NM_000061.3(BTK):c.-31+5G>A	rs1131691354
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser)	rs128621196
NM_000061.3(BTK):c.1004T>A (p.Val335Asp)	rs1569292214
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)	rs28935478
NM_000061.3(BTK):c.1103-2A>G	rs1603005659
NM_000061.3(BTK):c.1116G>C (p.Arg372Ser)	rs1555978024
NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs)	rs2147429013
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)	rs1569292021
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)	rs782429199
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro)	rs128621198
NM_000061.3(BTK):c.1257del (p.Lys420fs)	rs2147428293
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)	rs2147448164
NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter)	rs128621199
NM_000061.3(BTK):c.1288A>G (p.Lys430Glu)	rs128620184
NM_000061.3(BTK):c.1349+1G>A	rs2147428155
NM_000061.3(BTK):c.141+3_141+4del	rs864321661
NM_000061.3(BTK):c.141+3_141+6del	rs1555980866
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)	rs193922124
NM_000061.3(BTK):c.1506C>A (p.Cys502Ter)	rs41310709
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg)	rs128621200
NM_000061.3(BTK):c.1526T>C (p.Met509Thr)	rs1569291644
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)	rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)	rs128621202
NM_000061.3(BTK):c.1567-2A>T	rs1555977598
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)	rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)	rs1555977592
NM_000061.3(BTK):c.1589del (p.Asn530fs)	rs2147425836
NM_000061.3(BTK):c.161del (p.Gly54fs)	rs1555980799
NM_000061.3(BTK):c.1630_1631+3delinsGAAA	rs1555977580
NM_000061.3(BTK):c.1631+1G>T	rs1569291215
NM_000061.3(BTK):c.1632-2A>T	rs886039555
NM_000061.3(BTK):c.164dup (p.Ile56fs)	rs2147447605
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)	rs128621204
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)	rs104894770
NM_000061.3(BTK):c.1706T>C (p.Leu569Pro)	rs1555977461
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg)	rs128621205
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)	rs1603001805
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)	rs128621206
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)	rs1603019594
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)	rs128621207
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)	rs1555977339
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)	rs2147424186
NM_000061.3(BTK):c.1784dup (p.Met596fs)	rs1603001771
NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)	rs2147424169
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)	rs128621208
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)	rs128621209
NM_000061.3(BTK):c.1889T>A (p.Met630Lys)	rs128621210
NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)	rs128622211
NM_000061.3(BTK):c.1908_1909insTTTTAG (p.Lys637delinsPheTer)	rs2147423959
NM_000061.3(BTK):c.1946del (p.Ser649fs)	rs1555976766
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro)	rs128622212
NM_000061.3(BTK):c.215dup (p.Asn72fs)	rs886041148
NM_000061.3(BTK):c.228_231del (p.Glu76fs)	rs864321660
NM_000061.3(BTK):c.271C>T (p.Gln91Ter)
NM_000061.3(BTK):c.280del (p.Ile94fs)
NM_000061.3(BTK):c.2T>C (p.Met1Thr)	rs128620186
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)	rs1927036604
NM_000061.3(BTK):c.310-1G>C	rs864321662
NM_000061.3(BTK):c.310-2A>G	rs864321663
NM_000061.3(BTK):c.310dupG
NM_000061.3(BTK):c.338T>A (p.Val113Asp)	rs128621190
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)	rs1555980049
NM_000061.3(BTK):c.37C>T (p.Arg13Ter)	rs128620187
NM_000061.3(BTK):c.389del (p.Asn130fs)	rs864321664
NM_000061.3(BTK):c.435C>A (p.Cys145Ter)	rs1555978891
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)	rs128620188
NM_000061.3(BTK):c.467del (p.Ser156fs)
NM_000061.3(BTK):c.472_475del (p.Thr158fs)	rs193922128
NM_000061.3(BTK):c.557dup (p.Pro187fs)	rs864321665
NM_000061.3(BTK):c.588+2T>C
NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs)	rs1569293253
NM_000061.3(BTK):c.642_643del (p.Ser214fs)	rs1569292818
NM_000061.3(BTK):c.653del (p.Lys218fs)	rs1569292813
NM_000061.3(BTK):c.655del (p.Val219fs)	rs1569292810
NM_000061.3(BTK):c.718G>T (p.Glu240Ter)	rs128621191
NM_000061.3(BTK):c.721dup (p.Tyr241fs)	rs1603008381
NM_000061.3(BTK):c.726dup (p.Ile243fs)	rs1569292774
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)	rs128621192
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	rs128621193
NM_000061.3(BTK):c.829G>T (p.Glu277Ter)	rs868983143
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)	rs1927168815
NM_000061.3(BTK):c.839+1G>A	rs1569292649
NM_000061.3(BTK):c.83G>A (p.Arg28His)	rs128620185
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	rs2147431031
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)	rs128621194
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)	rs1555978277
NM_000061.3(BTK):c.894+191_1908+163del
NM_000061.3(BTK):c.895-2del	rs2147430256
NM_000061.3(BTK):c.919A>G (p.Arg307Gly)	rs128621195
NM_000061.3(BTK):c.953C>T (p.Ser318Phe)	rs1555978197
NM_000061.3(BTK):c.974+1del	rs2147430166
NM_000061.3(BTK):c.97A>C (p.Thr33Pro)	rs128620189
NM_000061.3(BTK):c.991dup (p.Ile331fs)	rs2147429948
NM_000061.3(BTK):c.998A>G (p.His333Arg)	rs193922133
NM_000061.3:c.(240+1_241-1)_(391+1_392-1)del
NM_000061.3:c.495_(520+1_521-1)del

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