List of variants in gene BTK reported as uncertain significance for X-linked agammaglobulinemia with growth hormone 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: 138

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HGVS	dbSNP	gnomAD frequency
NM_000061.3(BTK):c.1909-9T>C	rs782702231	0.00029
NM_000061.3(BTK):c.-105G>T	rs1034801451	0.00028
NM_000061.3(BTK):c.390C>T (p.Asn130=)	rs150917517	0.00012
NM_000061.3(BTK):c.*390G>A	rs782012349	0.00011
NM_000061.3(BTK):c.*342T>G	rs781937023	0.00009
NM_000061.3(BTK):c.1977C>T (p.Ser659=)	rs782047787	0.00007
NM_000061.3(BTK):c.720A>C (p.Glu240Asp)	rs141590686	0.00006
NM_000061.3(BTK):c.894+3A>G	rs781949555	0.00004
NM_000061.3(BTK):c.1358C>T (p.Ser453Phe)	rs782457670	0.00003
NM_000061.3(BTK):c.482A>C (p.Asn161Thr)	rs371085740	0.00002
NM_000061.3(BTK):c.100G>A (p.Val34Met)	rs141488935	0.00001
NM_000061.3(BTK):c.1328T>C (p.Ile443Thr)	rs782133950	0.00001
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu)	rs1057521814	0.00001
NM_000061.3(BTK):c.367C>T (p.Arg123Trp)	rs1926975244	0.00001
NM_000061.3(BTK):c.577G>C (p.Glu193Gln)	rs1555978783	0.00001
NM_000061.3(BTK):c.580G>A (p.Glu194Lys)	rs1555978779	0.00001
NM_000061.3(BTK):c.736G>C (p.Glu246Gln)	rs1468544899	0.00001
NM_000061.3(BTK):c.7G>A (p.Ala3Thr)	rs368549990	0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=)	rs1057515724	0.00001
NC_000023.10:g.(?_100604873)_(100630272_?)dup
NC_000023.11:g.(?_101353174)_(101358716_?)dup
NM_000061.3(BTK):c.-31+1G>A	rs1927600989
NM_000061.3(BTK):c.-31+6T>C
NM_000061.3(BTK):c.-87C>T	rs1927601892
NM_000061.3(BTK):c.100G>C (p.Val34Leu)
NM_000061.3(BTK):c.1018C>T (p.Pro340Ser)
NM_000061.3(BTK):c.1039G>C (p.Ala347Pro)	rs1603006298
NM_000061.3(BTK):c.1064T>C (p.Ile355Thr)	rs1057517709
NM_000061.3(BTK):c.1069G>A (p.Glu357Lys)	rs1555978130
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)	rs28935478
NM_000061.3(BTK):c.1093A>T (p.Asn365Tyr)	rs2147429790
NM_000061.3(BTK):c.1132T>C (p.Ser378Pro)
NM_000061.3(BTK):c.1144A>G (p.Lys382Glu)
NM_000061.3(BTK):c.1207A>C (p.Thr403Pro)
NM_000061.3(BTK):c.1229C>T (p.Thr410Ile)	rs1603005179
NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)
NM_000061.3(BTK):c.1272G>T (p.Gln424His)
NM_000061.3(BTK):c.1279_1280delinsAA (p.Val427Lys)
NM_000061.3(BTK):c.1282G>C (p.Ala428Pro)
NM_000061.3(BTK):c.1349+2dup	rs2147428153
NM_000061.3(BTK):c.1349+6T>G
NM_000061.3(BTK):c.1387G>A (p.Val463Ile)
NM_000061.3(BTK):c.1391G>T (p.Cys464Phe)	rs2147427522
NM_000061.3(BTK):c.1418T>A (p.Ile473Asn)	rs1926475663
NM_000061.3(BTK):c.1431G>A (p.Met477Ile)
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)	rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)	rs1057519825
NM_000061.3(BTK):c.1445T>C (p.Leu482Pro)	rs1926474231
NM_000061.3(BTK):c.1468C>T (p.Arg490Cys)
NM_000061.3(BTK):c.1469G>A (p.Arg490His)	rs1926473502
NM_000061.3(BTK):c.1475G>C (p.Arg492Pro)	rs782338603
NM_000061.3(BTK):c.1487A>C (p.Gln496Pro)	rs2147427327
NM_000061.3(BTK):c.1492C>G (p.Leu498Val)	rs1555977807
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg)	rs128621200
NM_000061.3(BTK):c.1535T>G (p.Leu512Arg)
NM_000061.3(BTK):c.1553T>G (p.Leu518Arg)
NM_000061.3(BTK):c.1556A>C (p.His519Pro)
NM_000061.3(BTK):c.1559G>T (p.Arg520Leu)
NM_000061.3(BTK):c.1571C>T (p.Ala524Val)
NM_000061.3(BTK):c.1578C>A (p.Asn526Lys)	rs1569291237
NM_000061.3(BTK):c.1591G>T (p.Asp531Tyr)
NM_000061.3(BTK):c.1606A>G (p.Lys536Glu)	rs1603003195
NM_000061.3(BTK):c.1610T>C (p.Val537Ala)
NM_000061.3(BTK):c.1631+6T>G	rs2147425735
NM_000061.3(BTK):c.1631G>A (p.Arg544Lys)
NM_000061.3(BTK):c.1632-11_1632-6del
NM_000061.3(BTK):c.1632-3C>A	rs1926384033
NM_000061.3(BTK):c.1633T>C (p.Tyr545His)
NM_000061.3(BTK):c.163T>C (p.Ser55Pro)	rs1603019607
NM_000061.3(BTK):c.1664T>C (p.Val555Ala)
NM_000061.3(BTK):c.1720T>C (p.Phe574Leu)	rs1926379592
NM_000061.3(BTK):c.1730A>C (p.Lys577Thr)	rs2147424863
NM_000061.3(BTK):c.1743G>T (p.Trp581Cys)	rs1603002341
NM_000061.3(BTK):c.1751G>A (p.Gly584Glu)	rs1926361058
NM_000061.3(BTK):c.1759A>C (p.Met587Leu)	rs1603001822
NM_000061.3(BTK):c.1761G>A (p.Met587Ile)
NM_000061.3(BTK):c.1762T>C (p.Trp588Arg)
NM_000061.3(BTK):c.1774T>C (p.Ser592Pro)	rs1603001783
NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr)	rs1926358194
NM_000061.3(BTK):c.1778T>C (p.Leu593Pro)	rs2147424197
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)	rs868967798
NM_000061.3(BTK):c.1819G>A (p.Ala607Thr)
NM_000061.3(BTK):c.1832C>A (p.Ala611Asp)
NM_000061.3(BTK):c.1843C>T (p.Arg615Cys)	rs1603001680
NM_000061.3(BTK):c.1844G>T (p.Arg615Leu)	rs1901797830
NM_000061.3(BTK):c.1864G>C (p.Ala622Pro)	rs2147424035
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu)	rs1926354581
NM_000061.3(BTK):c.1882A>T (p.Thr628Ser)
NM_000061.3(BTK):c.188G>C (p.Cys63Ser)
NM_000061.3(BTK):c.1909-1G>A
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa)
NM_000061.3(BTK):c.216T>G (p.Asn72Lys)	rs1555980789
NM_000061.3(BTK):c.239C>T (p.Pro80Leu)
NM_000061.3(BTK):c.240+2dup
NM_000061.3(BTK):c.240G>A (p.Pro80=)	rs1569296295
NM_000061.3(BTK):c.26T>A (p.Ile9Asn)
NM_000061.3(BTK):c.282C>G (p.Ile94Met)	rs2147444915
NM_000061.3(BTK):c.302C>T (p.Pro101Leu)
NM_000061.3(BTK):c.308A>C (p.Gln103Pro)
NM_000061.3(BTK):c.319G>T (p.Asp107Tyr)	rs1926977202
NM_000061.3(BTK):c.337G>A (p.Val113Ile)	rs2147443453
NM_000061.3(BTK):c.344C>T (p.Ser115Phe)
NM_000061.3(BTK):c.355G>A (p.Glu119Lys)
NM_000061.3(BTK):c.391G>A (p.Val131Ile)
NM_000061.3(BTK):c.41C>T (p.Ser14Phe)	rs1057520682
NM_000061.3(BTK):c.493T>C (p.Cys165Arg)	rs1603010344
NM_000061.3(BTK):c.518G>A (p.Gly173Glu)
NM_000061.3(BTK):c.520+15C>T	rs782697907
NM_000061.3(BTK):c.52A>G (p.Lys18Glu)
NM_000061.3(BTK):c.532G>A (p.Gly178Arg)
NM_000061.3(BTK):c.586C>A (p.Gln196Lys)
NM_000061.3(BTK):c.679C>A (p.Pro227Thr)
NM_000061.3(BTK):c.758G>A (p.Arg253Lys)
NM_000061.3(BTK):c.77A>G (p.Lys26Arg)	rs2147448262
NM_000061.3(BTK):c.839+4_839+7del
NM_000061.3(BTK):c.839+5G>T
NM_000061.3(BTK):c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000061.3(BTK):c.840-3C>G
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
NM_000061.3(BTK):c.863G>C (p.Arg288Pro)
NM_000061.3(BTK):c.867T>A (p.Ser289Arg)	rs1926588297
NM_000061.3(BTK):c.872C>A (p.Ala291Asp)
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
NM_000061.3(BTK):c.894+2dup	rs2147430924
NM_000061.3(BTK):c.895-12T>C	rs1926564625
NM_000061.3(BTK):c.905G>T (p.Gly302Val)
NM_000061.3(BTK):c.907G>A (p.Gly303Ser)
NM_000061.3(BTK):c.908G>A (p.Gly303Asp)
NM_000061.3(BTK):c.911T>G (p.Phe304Cys)
NM_000061.3(BTK):c.917T>C (p.Val306Ala)
NM_000061.3(BTK):c.934G>C (p.Ala312Pro)	rs1926563146
NM_000061.3(BTK):c.941A>G (p.Lys314Arg)	rs1386621585
NM_000061.3(BTK):c.978C>A (p.Asp326Glu)
NM_000061.3(BTK):c.980C>T (p.Pro327Leu)	rs1926556967
NM_000061.3(BTK):c.997C>T (p.His333Tyr)
NM_000061.3(BTK):c.998A>C (p.His333Pro)
NM_000061.3(BTK):c.998A>G (p.His333Arg)	rs193922133

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