Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)	SNV Germline	ChrX:101354687	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255784	rs_128620183	5 SubmittersRCV000012095 RCV000581245 RCV001204367 RCV001267912
NM_000061.3(BTK):c.1288A>G (p.Lys430Glu)	SNV Germline	ChrX:101356845	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255786	rs_128620184	1 SubmittersRCV000012096
NM_000061.3(BTK):c.37C>T (p.Arg13Ter)	SNV Germline	ChrX:101375248	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter	CA255788	rs_128620187	2 SubmittersRCV000012097
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)	SNV Germline	ChrX:101375242	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia Inherited Immunodeficiency Diseases X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA255791	rs_128620188	4 SubmittersRCV000012098 RCV001027550 RCV002512977
NM_000061.3(BTK):c.1750+5G>A	SNV Germline	ChrX:101353865	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter	CA341083	rs_864321659	2 SubmittersRCV000012100
NM_000061.3(BTK):c.83G>A (p.Arg28His)	SNV Germline	ChrX:101375202	Pathogenic	X-linked agammaglobulinemia Condition: not provided Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA255794	rs_128620185	7 SubmittersRCV000012101 RCV000427660 RCV000583846 RCV000819061
NM_000061.3(BTK):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:101375283	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter	CA255796	rs_128620186	2 SubmittersRCV000012102 RCV003511976
NM_000061.3(BTK):c.97A>C (p.Thr33Pro)	SNV Germline	ChrX:101375188	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255799	rs_128620189	1 SubmittersRCV000012104
NM_000061.3(BTK):c.310-1G>C	SNV Germline	ChrX:101370080	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter	CA341086	rs_864321662	2 SubmittersRCV000012107 RCV003511977
NM_000061.3(BTK):c.310-2A>G	SNV Germline	ChrX:101370081	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA341087	rs_864321663	1 SubmittersRCV000012108
NM_000061.3(BTK):c.338T>A (p.Val113Asp)	SNV Germline	ChrX:101370051	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255801	rs_128621190	1 SubmittersRCV000012109
NM_000061.3(BTK):c.718G>T (p.Glu240Ter)	SNV Germline	ChrX:101360626	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255803	rs_128621191	1 SubmittersRCV000012114
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)	SNV Germline	ChrX:101360589	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA255806	rs_128621192	3 SubmittersRCV000012115 RCV003511978
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	SNV Germline	ChrX:101360581	Pathogenic	X-linked agammaglobulinemia Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255809	rs_128621193	11 SubmittersRCV000012116 RCV000583310 RCV001221640 RCV001269823
NM_000061.3(BTK):c.839+1G>A	SNV Germline	ChrX:101360087	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided		rs_1569292649	1 SubmittersRCV000012117
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)	SNV Germline	ChrX:101359325	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255812	rs_128621194	6 SubmittersRCV000012119 RCV000768159 RCV001384086 RCV001701564
NM_000061.3(BTK):c.919A>G (p.Arg307Gly)	SNV Germline	ChrX:101358672	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255814	rs_128621195	1 SubmittersRCV000012120
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser)	SNV Germline	ChrX:101358411	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255816	rs_128621196	1 SubmittersRCV000012121
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter)	SNV Germline	ChrX:101357561	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter	CA121431	rs_128621197	2 SubmittersRCV000012124
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro)	SNV Germline	ChrX:101356910	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255818	rs_128621198	1 SubmittersRCV000012126
NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter)	SNV Germline	ChrX:101356858	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255820	rs_128621199	1 SubmittersRCV000012127
NM_000061.3(BTK):c.1506C>A (p.Cys502Ter)	SNV Germline	ChrX:101356112	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255823	rs_41310709	1 SubmittersRCV000012128
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)	SNV Germline	ChrX:101356060	Pathogenic	X-linked agammaglobulinemia Condition: not provided Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA255828	rs_128621201	6 SubmittersRCV000012130 RCV000378493 RCV000582314 RCV001061773
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)	SNV Germline	ChrX:101356059	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia	Criteria Provided Multiple Submitters No Conflicts	CA255831	rs_128621202	4 SubmittersRCV000012131 RCV000637056 RCV002482855
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)	SNV Germline	ChrX:101354636	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA121434	rs_128621203	3 SubmittersRCV000012134 RCV001810852
NM_000061.3(BTK):c.1631+1G>T	SNV Germline	ChrX:101354629	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided		rs_1569291215	1 SubmittersRCV000012135
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)	SNV Germline	ChrX:101353936	Pathogenic	X-linked agammaglobulinemia Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter	CA255833	rs_128621204	3 SubmittersRCV000012136 RCV000581337 RCV000816209
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg)	SNV Germline	ChrX:101353879	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255835	rs_128621205	1 SubmittersRCV000012137
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)	SNV Germline	ChrX:101353336	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255837	rs_128621206	1 SubmittersRCV000012138
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)	SNV Germline	ChrX:101353329	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA255839	rs_128621207	3 SubmittersRCV000012139 RCV003511979
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)	SNV Germline	ChrX:101353282	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255842	rs_128621208	1 SubmittersRCV000012140
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)	SNV Germline	ChrX:101353264	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter	CA255844	rs_128621209	2 SubmittersRCV000012141
NM_000061.3(BTK):c.1889T>A (p.Met630Lys)	SNV Germline	ChrX:101353213	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255846	rs_128621210	1 SubmittersRCV000012142
NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)	SNV Germline	ChrX:101353196	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255848	rs_128622211	1 SubmittersRCV000012143
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro)	SNV Germline	ChrX:101349910	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided	CA255851	rs_128622212	1 SubmittersRCV000012145
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)	SNV Germline	ChrX:101353935	Pathogenic	X-linked agammaglobulinemia Condition: not provided	Criteria Provided Single Submitter	CA255853	rs_104894770	2 SubmittersRCV000012147 RCV000485427
NM_000061.3(BTK):c.-31+5G>A	SNV Germline	ChrX:101386057	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided		rs_1131691354	1 SubmittersRCV000012149
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)	SNV Germline	ChrX:101356163	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter	CA260186	rs_193922124	1 SubmittersRCV000029409
NM_000061.3(BTK):c.1511A>T (p.Asp504Val)	SNV Germline	ChrX:101356107	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter	CA260189	rs_193922125	1 SubmittersRCV000029410
NM_000061.3(BTK):c.777-2A>G	SNV Germline	ChrX:101360152	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA260195	rs_193922129	2 SubmittersRCV000029414 RCV001055502
NM_000061.3(BTK):c.840-1G>A	SNV Germline	ChrX:101359348	Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA260197	rs_193922131	2 SubmittersRCV000029416 RCV002513237
NM_000061.3(BTK):c.895-2A>G	SNV Germline	ChrX:101358698	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA260198	rs_193922132	2 SubmittersRCV000029417 RCV001852584
NM_000061.3(BTK):c.998A>G (p.His333Arg)	SNV Germline	ChrX:101358414	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications	CA260199	rs_193922133	3 SubmittersRCV000029418 RCV002513238
NM_000061.3(BTK):c.1909-9T>C	SNV Germline	ChrX:101349965	Conflicting classifications of pathogenicity	not specified X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia	Criteria Provided Conflicting Classifications	CA201434	rs_782702231	3 SubmittersRCV000175387 RCV000637057 RCV001167166
NM_000061.3(BTK):c.141+11C>T	SNV Germline	ChrX:101375133	Conflicting classifications of pathogenicity	Condition: not provided X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency not specified X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications	CA10473231	rs_138411530	9 SubmittersRCV000224614 RCV000266994 RCV000380244 RCV000445094 RCV000660378
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)	SNV Germline	ChrX:101354688	Pathogenic	Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10603524	rs_886041149	4 SubmittersRCV000267626 RCV002518801
NM_000061.3(BTK):c.894+7G>A	SNV Germline	ChrX:101359286	Conflicting classifications of pathogenicity	Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications	CA10605896	rs_886044875	2 SubmittersRCV000290503 RCV002518002
NM_000061.3(BTK):c.142-8C>T	SNV Germline	ChrX:101374642	Conflicting classifications of pathogenicity	Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications	CA10473225	rs_782365356	2 SubmittersRCV000340012 RCV002518102
NM_000061.3(BTK):c.852A>G (p.Lys284=)	SNV Germline	ChrX:101359335	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications	CA10645817	rs_1057515724	2 SubmittersRCV000260615 RCV000369368
NM_000061.3(BTK):c.520+15C>T	SNV Germline	ChrX:101362546	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10473165	rs_782697907	3 SubmittersRCV000265905 RCV000320999 RCV003430977
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)	SNV Germline/somatic	ChrX:101356176	Conflicting classifications of pathogenicity	Breast neoplasm not specified X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided Malignant lymphoma, large B-cell, diffuse	Criteria Provided Conflicting Classifications	CA16602658	rs_1057519825	5 SubmittersRCV000430045 RCV000781188 RCV001243610 RCV001269707 RCV003318375
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)	SNV Germline/somatic	ChrX:101356177	Conflicting classifications of pathogenicity	B-cell chronic lymphocytic leukemia Breast neoplasm X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA16602659	rs_1057519826	3 SubmittersRCV000420001 RCV000437223 RCV001243609 RCV001269602
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu)	SNV Germline	ChrX:101353923	Conflicting classifications of pathogenicity	Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications	CA16608699	rs_1057521814	2 SubmittersRCV000438550 RCV000798428
NM_000061.3(BTK):c.894+1G>A	SNV Germline	ChrX:101359292	Pathogenic	Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16621159	rs_1064793859	2 SubmittersRCV000480016 RCV002250636
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)	SNV Germline	ChrX:101353322	Pathogenic	not specified X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia	Criteria Provided Multiple Submitters No Conflicts	CA413919441	rs_1555977339	3 SubmittersRCV000507546 RCV001857258 RCV003150249
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys)	SNV Germline	ChrX:101375166	Pathogenic	Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA413939330	rs_1555980875	2 SubmittersRCV000521066 RCV000707368
NM_000061.3(BTK):c.1475G>A (p.Arg492His)	SNV Germline	ChrX:101356143	Conflicting classifications of pathogenicity	Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications	CA333096804	rs_782338603	3 SubmittersRCV000581533 RCV002483556 RCV002530824
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)	SNV Germline	ChrX:101359324	Pathogenic	Autosomal recessive agammaglobulinemia 1 Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia not specified	Criteria Provided Multiple Submitters No Conflicts	CA413930070	rs_1555978277	5 SubmittersRCV000584540 RCV000657848 RCV000690161 RCV001192716 RCV001001062
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)	SNV Germline	ChrX:101370018	Pathogenic/Likely pathogenic	Autosomal recessive agammaglobulinemia 1 X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts	CA413936992	rs_1555980049	3 SubmittersRCV000584393 RCV000586376 RCV003512058
NM_000061.3(BTK):c.164C>A (p.Ser55Ter)	SNV Germline	ChrX:101374612	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter	CA413939060	rs_1555980796	1 SubmittersRCV000589435
NM_000061.3(BTK):c.588+2T>A	SNV Germline	ChrX:101362171	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter	CA413933897	rs_1555978777	1 SubmittersRCV000587879
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly)	SNV Germline	ChrX:101356060	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter	CA413922963	rs_128621201	1 SubmittersRCV000637052
NM_000061.3(BTK):c.278C>A (p.Ser93Ter)	SNV Germline	ChrX:101371664	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1569295678	1 SubmittersRCV000703916
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)	SNV Germline	ChrX:101353932	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1555977474	1 SubmittersRCV000702940
NM_000061.3(BTK):c.1526T>C (p.Met509Thr)	SNV Germline	ChrX:101356092	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1569291644	3 SubmittersRCV000692851 RCV003224377 RCV004017718
NM_000061.3(BTK):c.1004T>A (p.Val335Asp)	SNV Germline	ChrX:101358408	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_1569292214	1 SubmittersRCV000757938
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)	SNV Germline	ChrX:101357548	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1569292021	2 SubmittersRCV000780074 RCV001055303
NM_000061.3(BTK):c.240G>A (p.Pro80=)	SNV Germline	ChrX:101374536	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia Inherited Immunodeficiency Diseases X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications		rs_1569296295	4 SubmittersRCV000780072 RCV001027548 RCV001873186
NM_000061.3(BTK):c.588+1G>T	SNV Germline	ChrX:101362172	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1569293252	2 SubmittersRCV000780071 RCV001039149
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)	SNV Germline	ChrX:101353339	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1603001805	2 SubmittersRCV000799270 RCV000990916
NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)	SNV Germline	ChrX:101353923	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1057521814	1 SubmittersRCV000801257
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)	SNV Germline	ChrX:101353924	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603002421	1 SubmittersRCV000824301
NM_000061.3(BTK):c.1573C>G (p.Arg525Gly)	SNV Germline	ChrX:101354688	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_886041149	1 SubmittersRCV000820887
NM_000061.3(BTK):c.1546C>T (p.Gln516Ter)	SNV Germline	ChrX:101356072	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603004481	1 SubmittersRCV000799991
NM_000061.3(BTK):c.1513G>T (p.Val505Phe)	SNV Germline	ChrX:101356105	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603004514	1 SubmittersRCV000813278
NM_000061.3(BTK):c.1321G>T (p.Glu441Ter)	SNV Germline	ChrX:101356812	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603005073	1 SubmittersRCV000813201
NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)	SNV Germline	ChrX:101356871	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603005139	1 SubmittersRCV000816130
NM_000061.3(BTK):c.756G>A (p.Trp252Ter)	SNV Germline	ChrX:101360588	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603008349	1 SubmittersRCV000799583
NM_000061.3(BTK):c.232C>T (p.Gln78Ter)	SNV Germline	ChrX:101374544	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603019535	1 SubmittersRCV000814965
NM_000061.3(BTK):c.32T>C (p.Leu11Pro)	SNV Germline	ChrX:101375253	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603020228	1 SubmittersRCV000806755
NM_000061.3(BTK):c.1751-1G>C	SNV Germline	ChrX:101353352	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603001846	1 SubmittersRCV000798381
NM_000061.3(BTK):c.777-1G>A	SNV Germline	ChrX:101360151	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1603007942	2 SubmittersRCV000801814 RCV001796233
NM_000061.3(BTK):c.36G>T (p.Lys12Asn)	SNV Unknown	ChrX:101375249	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_782519139	1 SubmittersRCV000990919
NM_000061.3(BTK):c.1103-2A>G	SNV Germline	ChrX:101357585	Pathogenic/Likely pathogenic	not specified X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1603005659	3 SubmittersRCV001001214 RCV001869427 RCV002549158
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)	SNV Germline	Chr2:227269964	Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided X-linked agammaglobulinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1574745989	3 SubmittersRCV001029977 RCV001862430 RCV004526064
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser)	SNV Germline	ChrX:101353201	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926352588	1 SubmittersRCV001057527
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu)	SNV Germline	ChrX:101353234	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1926354581	2 SubmittersRCV001042408 RCV003153903
NM_000061.3(BTK):c.1747T>G (p.Phe583Val)	SNV Germline	ChrX:101353873	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926378381	1 SubmittersRCV001057292
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter)	SNV Germline	ChrX:101356884	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926503277	1 SubmittersRCV001053798
NM_000061.3(BTK):c.334T>C (p.Tyr112His)	SNV Germline	ChrX:101370055	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926977049	1 SubmittersRCV001041939
NM_000061.3(BTK):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:101375282	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1927172387	1 SubmittersRCV001070338
NM_000061.3(BTK):c.1631+5G>C	SNV Germline	ChrX:101354625	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926404279	1 SubmittersRCV001064751
NM_000061.3(BTK):c.1631+2T>C	SNV Germline	ChrX:101354628	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926404536	1 SubmittersRCV001047903
NM_000061.3(BTK):c.1977C>T (p.Ser659=)	SNV Germline	ChrX:101349888	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications		rs_782047787	2 SubmittersRCV001167164 RCV001167165
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)	SNV Germline	ChrX:101353213	Pathogenic/Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_128621210	3 SubmittersRCV001194091 RCV003512109 RCV003886487
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)	SNV Germline	ChrX:101353907	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_1926380106	1 SubmittersRCV001192717
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)	SNV Germline	ChrX:101375203	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency X-linked agammaglobulinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1927168815	3 SubmittersRCV001217971 RCV003984854
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter)	SNV Germline	ChrX:101353337	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926358858	1 SubmittersRCV001209246
NM_000061.3(BTK):c.465C>A (p.Cys155Ter)	SNV Germline	ChrX:101362616	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926710166	1 SubmittersRCV001212558
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter)	SNV Germline	ChrX:101370053	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1409835623	1 SubmittersRCV001211890
NM_000061.3(BTK):c.1567-2A>G	SNV Germline	ChrX:101354696	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1555977598	1 SubmittersRCV001205797
NM_000061.3(BTK):c.1350-1G>A	SNV Germline	ChrX:101356269	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926477495	1 SubmittersRCV001203420
NM_000061.3(BTK):c.521-1G>A	SNV Germline	ChrX:101362241	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926696248	1 SubmittersRCV001210457
NM_000061.3(BTK):c.496C>T (p.Gln166Ter)	SNV Germline	ChrX:101362585	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926708861	1 SubmittersRCV001230353
NM_000061.3(BTK):c.167T>C (p.Ile56Thr)	SNV Germline	ChrX:101374609	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1927146374	1 SubmittersRCV001235566
NM_000061.3(BTK):c.884T>C (p.Leu295Pro)	SNV Germline	ChrX:101359303	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926588125	1 SubmittersRCV001245402
NM_000061.3(BTK):c.895-1G>T	SNV Germline	ChrX:101358697	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926563964	1 SubmittersRCV001243870
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)	SNV Germline	ChrX:101371642	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_1927036604	1 SubmittersRCV001250190
NM_000061.3(BTK):c.1922G>A (p.Arg641His)	SNV Germline	ChrX:101349943	Pathogenic	Condition: not provided X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1926220192	2 SubmittersRCV001269826 RCV001386308
NM_000061.3(BTK):c.1349+1G>A	SNV Germline	ChrX:101356783	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2147428155	2 SubmittersRCV001594436 RCV003512114
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu)	SNV Germline	ChrX:101349933	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1926219727	1 SubmittersRCV001352189
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)	SNV Germline	ChrX:101353313	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia with growth hormone deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_868967798	2 SubmittersRCV001367344 RCV001548637
NM_000061.3(BTK):c.1379T>A (p.Leu460Ter)	SNV Germline	ChrX:101356239	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147427562	1 SubmittersRCV001384084
NM_000061.3(BTK):c.1102G>T (p.Gly368Ter)	SNV Germline	ChrX:101358310	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147429777	1 SubmittersRCV001384085
NM_000061.3(BTK):c.520+1G>A	SNV Germline	ChrX:101362560	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147435832	1 SubmittersRCV001389175
NM_000061.3(BTK):c.241-1G>C	SNV Germline	ChrX:101371702	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147444958	1 SubmittersRCV001391023
NM_000061.3(BTK):c.83G>T (p.Arg28Leu)	SNV Germline	ChrX:101375202	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_128620185	1 SubmittersRCV001389176
NM_000061.3(BTK):c.62C>A (p.Ser21Ter)	SNV Germline	ChrX:101375223	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147448284	1 SubmittersRCV001381525
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)	SNV Germline	ChrX:101353321	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_2147424186	1 SubmittersRCV001530181
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro)	SNV Unknown	ChrX:101356263	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_2147427580	1 SubmittersRCV001795624
NM_000061.3(BTK):c.829G>T (p.Glu277Ter)	SNV Germline	ChrX:101360098	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided		rs_868983143	1 SubmittersRCV001822089
NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)	SNV Unknown	ChrX:101353310	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_2147424169	1 SubmittersRCV001824256
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter)	SNV Germline	ChrX:101370053	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1409835623	1 SubmittersRCV001870380
NM_000061.3(BTK):c.975-1G>T	SNV Germline	ChrX:101358438	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147429973	1 SubmittersRCV001923088
NM_000061.3(BTK):c.595A>T (p.Lys199Ter)	SNV Germline	ChrX:101360749	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147433246	1 SubmittersRCV001923105
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu)	SNV Germline	ChrX:101353339	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1603001805	1 SubmittersRCV001984261
NM_000061.3(BTK):c.1399C>T (p.Gln467Ter)	SNV Germline	ChrX:101356219	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147427505	1 SubmittersRCV001960621
NM_000061.3(BTK):c.349A>C (p.Thr117Pro)	SNV Germline	ChrX:101370040	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_782820524	1 SubmittersRCV001872231
NM_000061.3(BTK):c.305T>C (p.Phe102Ser)	SNV Germline	ChrX:101371637	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147444867	1 SubmittersRCV001910950
NM_000061.3(BTK):c.391+1G>A	SNV Germline	ChrX:101369997	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147443380	1 SubmittersRCV001934601
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu)	SNV Germline	ChrX:101356055	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147427209	1 SubmittersRCV002024646
NM_000061.3(BTK):c.1908+1G>T	SNV Germline	ChrX:101353193	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147423955	1 SubmittersRCV002013402
NM_000061.3(BTK):c.974+5G>C	SNV Germline	ChrX:101358612	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147430161	1 SubmittersRCV002048047
NM_000061.3(BTK):c.240+109C>A	SNV Germline	ChrX:101374427	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147447393	1 SubmittersRCV002048069
NM_000061.3(BTK):c.1931T>C (p.Phe644Ser)	SNV Germline	ChrX:101349934	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147419969	1 SubmittersRCV001894119
NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr)	SNV Germline	ChrX:101356113	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_1313261352	1 SubmittersRCV001958648
NM_000061.3(BTK):c.1535T>C (p.Leu512Pro)	SNV Germline	ChrX:101356083	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147427255	1 SubmittersRCV001956174
NM_000061.3(BTK):c.1085A>G (p.His362Arg)	SNV Germline	ChrX:101358327	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_2147429797	1 SubmittersRCV001983050
NM_000061.3(BTK):c.839+1G>C	SNV Germline	ChrX:101360087	Likely pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1569292649	2 SubmittersRCV002052261 RCV002551234
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	SNV Germline	ChrX:101359345	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter		rs_2147431031	2 SubmittersRCV002243532
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)	SNV Germline	ChrX:101357510	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter		rs_782429199	2 SubmittersRCV002243533 RCV003093931
NM_000061.3(BTK):c.1632-2A>T	SNV Germline	ChrX:101353990	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided		rs_886039555	1 SubmittersRCV002243534
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)	SNV Germline	ChrX:101375159	Pathogenic	X-linked agammaglobulinemia	No Assertion Criteria Provided		rs_2147448164	1 SubmittersRCV002243536
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)	SNV Germline	ChrX:101370017	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV002283934
NM_000061.3(BTK):c.904G>A (p.Gly302Arg)	SNV Germline	ChrX:101358687	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV002290390
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)	SNV Germline	ChrX:101353268	Pathogenic	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002319758 RCV003512147
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)	SNV Germline	ChrX:101353309	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064753
NM_000061.3(BTK):c.1751-1G>A	SNV Germline	ChrX:101353352	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064754
NM_000061.3(BTK):c.1751-2A>G	SNV Germline	ChrX:101353353	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003050633
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)	SNV Germline	ChrX:101353875	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064755
NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)	SNV Germline	ChrX:101353895	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003050634
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)	SNV Germline	ChrX:101353926	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041461
NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)	SNV Germline	ChrX:101353931	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041462
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)	SNV Germline	ChrX:101353988	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041463
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)	SNV Germline	ChrX:101354631	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041464
NM_000061.3(BTK):c.1567-2A>C	SNV Germline	ChrX:101354696	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064756
NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)	SNV Germline	ChrX:101356101	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064757
NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)	SNV Germline	ChrX:101357515	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064758
NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)	SNV Germline	ChrX:101357551	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064759
NM_000061.3(BTK):c.974+1G>A	SNV Germline	ChrX:101358616	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003050636
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)	SNV Germline	ChrX:101362621	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041465
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)	SNV Germline	ChrX:101362626	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041466
NM_000061.3(BTK):c.309+1G>A	SNV Germline	ChrX:101371632	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041467
NM_000061.3(BTK):c.141+1G>C	SNV Germline	ChrX:101375143	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041468
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)	SNV Germline	ChrX:101358336	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002824000
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)	SNV Germline	ChrX:101362679	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003025522
NM_000061.3(BTK):c.1361A>C (p.His454Pro)	SNV Germline	ChrX:101356257	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003016643
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)	SNV Germline	ChrX:101353935	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV003140461
NM_000061.3(BTK):c.271C>T (p.Gln91Ter)	SNV Germline	ChrX:101371671	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV003140473
NM_000061.3(BTK):c.588+2T>C	SNV Germline	ChrX:101362171	Pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV003142242
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)	SNV Germline	ChrX:101349943	Conflicting classifications of pathogenicity	X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003479667 RCV003512230
NM_000061.3(BTK):c.895-2A>T	SNV Germline	ChrX:101358698	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003511617
NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)	SNV Germline	ChrX:101349944	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513677
NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)	SNV Germline	ChrX:101353209	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513678
NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)	SNV Germline	ChrX:101353322	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513679
NM_000061.3(BTK):c.1751-1G>T	SNV Germline	ChrX:101353352	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513681
NM_000061.3(BTK):c.1750+1G>T	SNV Germline	ChrX:101353869	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513682
NM_000061.3(BTK):c.1750+1G>A	SNV Germline	ChrX:101353869	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513683
NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)	SNV Germline	ChrX:101353877	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513684
NM_000061.3(BTK):c.1361A>T (p.His454Leu)	SNV Germline	ChrX:101356257	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513686
NM_000061.3(BTK):c.1361A>G (p.His454Arg)	SNV Germline	ChrX:101356257	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513687
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)	SNV Germline	ChrX:101359298	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513690
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)	SNV Germline	ChrX:101360149	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513691
NM_000061.3(BTK):c.588+1G>A	SNV Germline	ChrX:101362172	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513692
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)	SNV Germline	ChrX:101362587	Likely pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003513694
NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)	SNV Germline	ChrX:101354655	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003625402
NM_000061.3(BTK):c.286G>T (p.Glu96Ter)	SNV Germline	ChrX:101371656	Pathogenic	X-linked agammaglobulinemia with growth hormone deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003625831
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)	SNV Germline	ChrX:101353985	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV003988730
NM_000061.3(BTK):c.451C>T (p.Gln151Ter)	SNV Germline	ChrX:101362630	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV004547308
NM_000061.3(BTK):c.463T>G (p.Cys155Gly)	SNV Germline	ChrX:101362618	Likely pathogenic	X-linked agammaglobulinemia	Criteria Provided Single Submitter			1 SubmittersRCV004577086

NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)

SNV
Germline

ChrX:101354687

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255784

rs_128620183

5 SubmittersRCV000012095 RCV000581245 RCV001204367 RCV001267912

NM_000061.3(BTK):c.1288A>G (p.Lys430Glu)

SNV
Germline

ChrX:101356845

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255786

rs_128620184

1 SubmittersRCV000012096

NM_000061.3(BTK):c.37C>T (p.Arg13Ter)

SNV
Germline

ChrX:101375248

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

CA255788

rs_128620187

2 SubmittersRCV000012097

NM_000061.3(BTK):c.43C>T (p.Gln15Ter)

SNV
Germline

ChrX:101375242

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
Inherited Immunodeficiency Diseases
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA255791

rs_128620188

4 SubmittersRCV000012098 RCV001027550 RCV002512977

NM_000061.3(BTK):c.1750+5G>A

SNV
Germline

ChrX:101353865

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

CA341083

rs_864321659

2 SubmittersRCV000012100

NM_000061.3(BTK):c.83G>A (p.Arg28His)

SNV
Germline

ChrX:101375202

Pathogenic

X-linked agammaglobulinemia
Condition: not provided
Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA255794

rs_128620185

7 SubmittersRCV000012101 RCV000427660 RCV000583846 RCV000819061

NM_000061.3(BTK):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:101375283

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

CA255796

rs_128620186

2 SubmittersRCV000012102 RCV003511976

NM_000061.3(BTK):c.97A>C (p.Thr33Pro)

SNV
Germline

ChrX:101375188

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255799

rs_128620189

1 SubmittersRCV000012104

NM_000061.3(BTK):c.310-1G>C

SNV
Germline

ChrX:101370080

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

CA341086

rs_864321662

2 SubmittersRCV000012107 RCV003511977

NM_000061.3(BTK):c.310-2A>G

SNV
Germline

ChrX:101370081

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA341087

rs_864321663

1 SubmittersRCV000012108

NM_000061.3(BTK):c.338T>A (p.Val113Asp)

SNV
Germline

ChrX:101370051

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255801

rs_128621190

1 SubmittersRCV000012109

NM_000061.3(BTK):c.718G>T (p.Glu240Ter)

SNV
Germline

ChrX:101360626

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255803

rs_128621191

1 SubmittersRCV000012114

NM_000061.3(BTK):c.755G>A (p.Trp252Ter)

SNV
Germline

ChrX:101360589

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA255806

rs_128621192

3 SubmittersRCV000012115 RCV003511978

NM_000061.3(BTK):c.763C>T (p.Arg255Ter)

SNV
Germline

ChrX:101360581

Pathogenic

X-linked agammaglobulinemia
Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255809

rs_128621193

11 SubmittersRCV000012116 RCV000583310 RCV001221640 RCV001269823

NM_000061.3(BTK):c.839+1G>A

SNV
Germline

ChrX:101360087

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

rs_1569292649

1 SubmittersRCV000012117

NM_000061.3(BTK):c.862C>T (p.Arg288Trp)

SNV
Germline

ChrX:101359325

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255812

rs_128621194

6 SubmittersRCV000012119 RCV000768159 RCV001384086 RCV001701564

NM_000061.3(BTK):c.919A>G (p.Arg307Gly)

SNV
Germline

ChrX:101358672

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255814

rs_128621195

1 SubmittersRCV000012120

NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser)

SNV
Germline

ChrX:101358411

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255816

rs_128621196

1 SubmittersRCV000012121

NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter)

SNV
Germline

ChrX:101357561

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

CA121431

rs_128621197

2 SubmittersRCV000012124

NM_000061.3(BTK):c.1223T>C (p.Leu408Pro)

SNV
Germline

ChrX:101356910

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255818

rs_128621198

1 SubmittersRCV000012126

NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter)

SNV
Germline

ChrX:101356858

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255820

rs_128621199

1 SubmittersRCV000012127

NM_000061.3(BTK):c.1506C>A (p.Cys502Ter)

SNV
Germline

ChrX:101356112

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255823

rs_41310709

1 SubmittersRCV000012128

NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)

SNV
Germline

ChrX:101356060

Pathogenic

X-linked agammaglobulinemia
Condition: not provided
Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA255828

rs_128621201

6 SubmittersRCV000012130 RCV000378493 RCV000582314 RCV001061773

NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)

SNV
Germline

ChrX:101356059

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA255831

rs_128621202

4 SubmittersRCV000012131 RCV000637056 RCV002482855

NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)

SNV
Germline

ChrX:101354636

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA121434

rs_128621203

3 SubmittersRCV000012134 RCV001810852

NM_000061.3(BTK):c.1631+1G>T

SNV
Germline

ChrX:101354629

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

rs_1569291215

1 SubmittersRCV000012135

NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)

SNV
Germline

ChrX:101353936

Pathogenic

X-linked agammaglobulinemia
Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

CA255833

rs_128621204

3 SubmittersRCV000012136 RCV000581337 RCV000816209

NM_000061.3(BTK):c.1741T>C (p.Trp581Arg)

SNV
Germline

ChrX:101353879

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255835

rs_128621205

1 SubmittersRCV000012137

NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)

SNV
Germline

ChrX:101353336

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255837

rs_128621206

1 SubmittersRCV000012138

NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)

SNV
Germline

ChrX:101353329

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA255839

rs_128621207

3 SubmittersRCV000012139 RCV003511979

NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)

SNV
Germline

ChrX:101353282

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255842

rs_128621208

1 SubmittersRCV000012140

NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)

SNV
Germline

ChrX:101353264

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

CA255844

rs_128621209

2 SubmittersRCV000012141

NM_000061.3(BTK):c.1889T>A (p.Met630Lys)

SNV
Germline

ChrX:101353213

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255846

rs_128621210

1 SubmittersRCV000012142

NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)

SNV
Germline

ChrX:101353196

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255848

rs_128622211

1 SubmittersRCV000012143

NM_000061.3(BTK):c.1955T>C (p.Leu652Pro)

SNV
Germline

ChrX:101349910

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

CA255851

rs_128622212

1 SubmittersRCV000012145

NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)

SNV
Germline

ChrX:101353935

Pathogenic

X-linked agammaglobulinemia
Condition: not provided

Criteria Provided
Single Submitter

CA255853

rs_104894770

2 SubmittersRCV000012147 RCV000485427

NM_000061.3(BTK):c.-31+5G>A

SNV
Germline

ChrX:101386057

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

rs_1131691354

1 SubmittersRCV000012149

NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)

SNV
Germline

ChrX:101356163

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

CA260186

rs_193922124

1 SubmittersRCV000029409

NM_000061.3(BTK):c.1511A>T (p.Asp504Val)

SNV
Germline

ChrX:101356107

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

CA260189

rs_193922125

1 SubmittersRCV000029410

NM_000061.3(BTK):c.777-2A>G

SNV
Germline

ChrX:101360152

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA260195

rs_193922129

2 SubmittersRCV000029414 RCV001055502

NM_000061.3(BTK):c.840-1G>A

SNV
Germline

ChrX:101359348

Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA260197

rs_193922131

2 SubmittersRCV000029416 RCV002513237

NM_000061.3(BTK):c.895-2A>G

SNV
Germline

ChrX:101358698

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA260198

rs_193922132

2 SubmittersRCV000029417 RCV001852584

NM_000061.3(BTK):c.998A>G (p.His333Arg)

SNV
Germline

ChrX:101358414

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

CA260199

rs_193922133

3 SubmittersRCV000029418 RCV002513238

NM_000061.3(BTK):c.1909-9T>C

SNV
Germline

ChrX:101349965

Conflicting classifications of pathogenicity

not specified
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia

Criteria Provided
Conflicting Classifications

CA201434

rs_782702231

3 SubmittersRCV000175387 RCV000637057 RCV001167166

NM_000061.3(BTK):c.141+11C>T

SNV
Germline

ChrX:101375133

Conflicting classifications of pathogenicity

Condition: not provided
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
not specified
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

CA10473231

rs_138411530

9 SubmittersRCV000224614 RCV000266994 RCV000380244 RCV000445094 RCV000660378

NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)

SNV
Germline

ChrX:101354688

Pathogenic

Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10603524

rs_886041149

4 SubmittersRCV000267626 RCV002518801

NM_000061.3(BTK):c.894+7G>A

SNV
Germline

ChrX:101359286

Conflicting classifications of pathogenicity

Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

CA10605896

rs_886044875

2 SubmittersRCV000290503 RCV002518002

NM_000061.3(BTK):c.142-8C>T

SNV
Germline

ChrX:101374642

Conflicting classifications of pathogenicity

Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

CA10473225

rs_782365356

2 SubmittersRCV000340012 RCV002518102

NM_000061.3(BTK):c.852A>G (p.Lys284=)

SNV
Germline

ChrX:101359335

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

CA10645817

rs_1057515724

2 SubmittersRCV000260615 RCV000369368

NM_000061.3(BTK):c.520+15C>T

SNV
Germline

ChrX:101362546

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10473165

rs_782697907

3 SubmittersRCV000265905 RCV000320999 RCV003430977

NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)

SNV
Germline/somatic

ChrX:101356176

Conflicting classifications of pathogenicity

Breast neoplasm
not specified
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA16602658

rs_1057519825

5 SubmittersRCV000430045 RCV000781188 RCV001243610 RCV001269707 RCV003318375

NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)

SNV
Germline/somatic

ChrX:101356177

Conflicting classifications of pathogenicity

B-cell chronic lymphocytic leukemia
Breast neoplasm
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16602659

rs_1057519826

3 SubmittersRCV000420001 RCV000437223 RCV001243609 RCV001269602

NM_000061.3(BTK):c.1697C>T (p.Pro566Leu)

SNV
Germline

ChrX:101353923

Conflicting classifications of pathogenicity

Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

CA16608699

rs_1057521814

2 SubmittersRCV000438550 RCV000798428

NM_000061.3(BTK):c.894+1G>A

SNV
Germline

ChrX:101359292

Pathogenic

Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16621159

rs_1064793859

2 SubmittersRCV000480016 RCV002250636

NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)

SNV
Germline

ChrX:101353322

Pathogenic

not specified
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA413919441

rs_1555977339

3 SubmittersRCV000507546 RCV001857258 RCV003150249

NM_000061.3(BTK):c.119A>G (p.Tyr40Cys)

SNV
Germline

ChrX:101375166

Pathogenic

Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA413939330

rs_1555980875

2 SubmittersRCV000521066 RCV000707368

NM_000061.3(BTK):c.1475G>A (p.Arg492His)

SNV
Germline

ChrX:101356143

Conflicting classifications of pathogenicity

Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

CA333096804

rs_782338603

3 SubmittersRCV000581533 RCV002483556 RCV002530824

NM_000061.3(BTK):c.863G>A (p.Arg288Gln)

SNV
Germline

ChrX:101359324

Pathogenic

Autosomal recessive agammaglobulinemia 1
Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA413930070

rs_1555978277

5 SubmittersRCV000584540 RCV000657848 RCV000690161 RCV001192716 RCV001001062

NM_000061.3(BTK):c.371G>A (p.Trp124Ter)

SNV
Germline

ChrX:101370018

Pathogenic/Likely pathogenic

Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA413936992

rs_1555980049

3 SubmittersRCV000584393 RCV000586376 RCV003512058

NM_000061.3(BTK):c.164C>A (p.Ser55Ter)

SNV
Germline

ChrX:101374612

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

CA413939060

rs_1555980796

1 SubmittersRCV000589435

NM_000061.3(BTK):c.588+2T>A

SNV
Germline

ChrX:101362171

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

CA413933897

rs_1555978777

1 SubmittersRCV000587879

NM_000061.3(BTK):c.1558C>G (p.Arg520Gly)

SNV
Germline

ChrX:101356060

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

CA413922963

rs_128621201

1 SubmittersRCV000637052

NM_000061.3(BTK):c.278C>A (p.Ser93Ter)

SNV
Germline

ChrX:101371664

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1569295678

1 SubmittersRCV000703916

NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)

SNV
Germline

ChrX:101353932

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1555977474

1 SubmittersRCV000702940

NM_000061.3(BTK):c.1526T>C (p.Met509Thr)

SNV
Germline

ChrX:101356092

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569291644

3 SubmittersRCV000692851 RCV003224377 RCV004017718

NM_000061.3(BTK):c.1004T>A (p.Val335Asp)

SNV
Germline

ChrX:101358408

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_1569292214

1 SubmittersRCV000757938

NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)

SNV
Germline

ChrX:101357548

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569292021

2 SubmittersRCV000780074 RCV001055303

NM_000061.3(BTK):c.240G>A (p.Pro80=)

SNV
Germline

ChrX:101374536

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia
Inherited Immunodeficiency Diseases
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

rs_1569296295

4 SubmittersRCV000780072 RCV001027548 RCV001873186

NM_000061.3(BTK):c.588+1G>T

SNV
Germline

ChrX:101362172

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569293252

2 SubmittersRCV000780071 RCV001039149

NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)

SNV
Germline

ChrX:101353339

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603001805

2 SubmittersRCV000799270 RCV000990916

NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)

SNV
Germline

ChrX:101353923

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1057521814

1 SubmittersRCV000801257

NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)

SNV
Germline

ChrX:101353924

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603002421

1 SubmittersRCV000824301

NM_000061.3(BTK):c.1573C>G (p.Arg525Gly)

SNV
Germline

ChrX:101354688

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_886041149

1 SubmittersRCV000820887

NM_000061.3(BTK):c.1546C>T (p.Gln516Ter)

SNV
Germline

ChrX:101356072

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603004481

1 SubmittersRCV000799991

NM_000061.3(BTK):c.1513G>T (p.Val505Phe)

SNV
Germline

ChrX:101356105

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603004514

1 SubmittersRCV000813278

NM_000061.3(BTK):c.1321G>T (p.Glu441Ter)

SNV
Germline

ChrX:101356812

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603005073

1 SubmittersRCV000813201

NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)

SNV
Germline

ChrX:101356871

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603005139

1 SubmittersRCV000816130

NM_000061.3(BTK):c.756G>A (p.Trp252Ter)

SNV
Germline

ChrX:101360588

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603008349

1 SubmittersRCV000799583

NM_000061.3(BTK):c.232C>T (p.Gln78Ter)

SNV
Germline

ChrX:101374544

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603019535

1 SubmittersRCV000814965

NM_000061.3(BTK):c.32T>C (p.Leu11Pro)

SNV
Germline

ChrX:101375253

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603020228

1 SubmittersRCV000806755

NM_000061.3(BTK):c.1751-1G>C

SNV
Germline

ChrX:101353352

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603001846

1 SubmittersRCV000798381

NM_000061.3(BTK):c.777-1G>A

SNV
Germline

ChrX:101360151

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603007942

2 SubmittersRCV000801814 RCV001796233

NM_000061.3(BTK):c.36G>T (p.Lys12Asn)

SNV
Unknown

ChrX:101375249

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_782519139

1 SubmittersRCV000990919

NM_000061.3(BTK):c.1103-2A>G

SNV
Germline

ChrX:101357585

Pathogenic/Likely pathogenic

not specified
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603005659

3 SubmittersRCV001001214 RCV001869427 RCV002549158

NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)

SNV
Germline

Chr2:227269964

Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
X-linked agammaglobulinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574745989

3 SubmittersRCV001029977 RCV001862430 RCV004526064

NM_000061.3(BTK):c.1901G>C (p.Trp634Ser)

SNV
Germline

ChrX:101353201

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926352588

1 SubmittersRCV001057527

NM_000061.3(BTK):c.1868C>T (p.Ser623Leu)

SNV
Germline

ChrX:101353234

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1926354581

2 SubmittersRCV001042408 RCV003153903

NM_000061.3(BTK):c.1747T>G (p.Phe583Val)

SNV
Germline

ChrX:101353873

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926378381

1 SubmittersRCV001057292

NM_000061.3(BTK):c.1249A>T (p.Lys417Ter)

SNV
Germline

ChrX:101356884

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926503277

1 SubmittersRCV001053798

NM_000061.3(BTK):c.334T>C (p.Tyr112His)

SNV
Germline

ChrX:101370055

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926977049

1 SubmittersRCV001041939

NM_000061.3(BTK):c.3G>A (p.Met1Ile)

SNV
Germline

ChrX:101375282

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1927172387

1 SubmittersRCV001070338

NM_000061.3(BTK):c.1631+5G>C

SNV
Germline

ChrX:101354625

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926404279

1 SubmittersRCV001064751

NM_000061.3(BTK):c.1631+2T>C

SNV
Germline

ChrX:101354628

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926404536

1 SubmittersRCV001047903

NM_000061.3(BTK):c.1977C>T (p.Ser659=)

SNV
Germline

ChrX:101349888

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

rs_782047787

2 SubmittersRCV001167164 RCV001167165

NM_000061.3(BTK):c.1889T>C (p.Met630Thr)

SNV
Germline

ChrX:101353213

Pathogenic/Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_128621210

3 SubmittersRCV001194091 RCV003512109 RCV003886487

NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)

SNV
Germline

ChrX:101353907

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_1926380106

1 SubmittersRCV001192717

NM_000061.3(BTK):c.82C>T (p.Arg28Cys)

SNV
Germline

ChrX:101375203

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1927168815

3 SubmittersRCV001217971 RCV003984854

NM_000061.3(BTK):c.1765G>T (p.Glu589Ter)

SNV
Germline

ChrX:101353337

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926358858

1 SubmittersRCV001209246

NM_000061.3(BTK):c.465C>A (p.Cys155Ter)

SNV
Germline

ChrX:101362616

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926710166

1 SubmittersRCV001212558

NM_000061.3(BTK):c.336C>G (p.Tyr112Ter)

SNV
Germline

ChrX:101370053

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1409835623

1 SubmittersRCV001211890

NM_000061.3(BTK):c.1567-2A>G

SNV
Germline

ChrX:101354696

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1555977598

1 SubmittersRCV001205797

NM_000061.3(BTK):c.1350-1G>A

SNV
Germline

ChrX:101356269

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926477495

1 SubmittersRCV001203420

NM_000061.3(BTK):c.521-1G>A

SNV
Germline

ChrX:101362241

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926696248

1 SubmittersRCV001210457

NM_000061.3(BTK):c.496C>T (p.Gln166Ter)

SNV
Germline

ChrX:101362585

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926708861

1 SubmittersRCV001230353

NM_000061.3(BTK):c.167T>C (p.Ile56Thr)

SNV
Germline

ChrX:101374609

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1927146374

1 SubmittersRCV001235566

NM_000061.3(BTK):c.884T>C (p.Leu295Pro)

SNV
Germline

ChrX:101359303

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926588125

1 SubmittersRCV001245402

NM_000061.3(BTK):c.895-1G>T

SNV
Germline

ChrX:101358697

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926563964

1 SubmittersRCV001243870

NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)

SNV
Germline

ChrX:101371642

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_1927036604

1 SubmittersRCV001250190

NM_000061.3(BTK):c.1922G>A (p.Arg641His)

SNV
Germline

ChrX:101349943

Pathogenic

Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1926220192

2 SubmittersRCV001269826 RCV001386308

NM_000061.3(BTK):c.1349+1G>A

SNV
Germline

ChrX:101356783

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147428155

2 SubmittersRCV001594436 RCV003512114

NM_000061.3(BTK):c.1932C>G (p.Phe644Leu)

SNV
Germline

ChrX:101349933

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1926219727

1 SubmittersRCV001352189

NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)

SNV
Germline

ChrX:101353313

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_868967798

2 SubmittersRCV001367344 RCV001548637

NM_000061.3(BTK):c.1379T>A (p.Leu460Ter)

SNV
Germline

ChrX:101356239

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147427562

1 SubmittersRCV001384084

NM_000061.3(BTK):c.1102G>T (p.Gly368Ter)

SNV
Germline

ChrX:101358310

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147429777

1 SubmittersRCV001384085

NM_000061.3(BTK):c.520+1G>A

SNV
Germline

ChrX:101362560

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147435832

1 SubmittersRCV001389175

NM_000061.3(BTK):c.241-1G>C

SNV
Germline

ChrX:101371702

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147444958

1 SubmittersRCV001391023

NM_000061.3(BTK):c.83G>T (p.Arg28Leu)

SNV
Germline

ChrX:101375202

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_128620185

1 SubmittersRCV001389176

NM_000061.3(BTK):c.62C>A (p.Ser21Ter)

SNV
Germline

ChrX:101375223

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147448284

1 SubmittersRCV001381525

NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)

SNV
Germline

ChrX:101353321

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_2147424186

1 SubmittersRCV001530181

NM_000061.3(BTK):c.1355T>C (p.Leu452Pro)

SNV
Unknown

ChrX:101356263

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_2147427580

1 SubmittersRCV001795624

NM_000061.3(BTK):c.829G>T (p.Glu277Ter)

SNV
Germline

ChrX:101360098

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

rs_868983143

1 SubmittersRCV001822089

NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)

SNV
Unknown

ChrX:101353310

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_2147424169

1 SubmittersRCV001824256

NM_000061.3(BTK):c.336C>A (p.Tyr112Ter)

SNV
Germline

ChrX:101370053

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1409835623

1 SubmittersRCV001870380

NM_000061.3(BTK):c.975-1G>T

SNV
Germline

ChrX:101358438

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147429973

1 SubmittersRCV001923088

NM_000061.3(BTK):c.595A>T (p.Lys199Ter)

SNV
Germline

ChrX:101360749

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147433246

1 SubmittersRCV001923105

NM_000061.3(BTK):c.1763G>T (p.Trp588Leu)

SNV
Germline

ChrX:101353339

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1603001805

1 SubmittersRCV001984261

NM_000061.3(BTK):c.1399C>T (p.Gln467Ter)

SNV
Germline

ChrX:101356219

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147427505

1 SubmittersRCV001960621

NM_000061.3(BTK):c.349A>C (p.Thr117Pro)

SNV
Germline

ChrX:101370040

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_782820524

1 SubmittersRCV001872231

NM_000061.3(BTK):c.305T>C (p.Phe102Ser)

SNV
Germline

ChrX:101371637

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147444867

1 SubmittersRCV001910950

NM_000061.3(BTK):c.391+1G>A

SNV
Germline

ChrX:101369997

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147443380

1 SubmittersRCV001934601

NM_000061.3(BTK):c.1563C>G (p.Asp521Glu)

SNV
Germline

ChrX:101356055

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147427209

1 SubmittersRCV002024646

NM_000061.3(BTK):c.1908+1G>T

SNV
Germline

ChrX:101353193

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147423955

1 SubmittersRCV002013402

NM_000061.3(BTK):c.974+5G>C

SNV
Germline

ChrX:101358612

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147430161

1 SubmittersRCV002048047

NM_000061.3(BTK):c.240+109C>A

SNV
Germline

ChrX:101374427

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147447393

1 SubmittersRCV002048069

NM_000061.3(BTK):c.1931T>C (p.Phe644Ser)

SNV
Germline

ChrX:101349934

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147419969

1 SubmittersRCV001894119

NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr)

SNV
Germline

ChrX:101356113

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_1313261352

1 SubmittersRCV001958648

NM_000061.3(BTK):c.1535T>C (p.Leu512Pro)

SNV
Germline

ChrX:101356083

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147427255

1 SubmittersRCV001956174

NM_000061.3(BTK):c.1085A>G (p.His362Arg)

SNV
Germline

ChrX:101358327

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_2147429797

1 SubmittersRCV001983050

NM_000061.3(BTK):c.839+1G>C

SNV
Germline

ChrX:101360087

Likely pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569292649

2 SubmittersRCV002052261 RCV002551234

NM_000061.3(BTK):c.842G>A (p.Trp281Ter)

SNV
Germline

ChrX:101359345

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

rs_2147431031

2 SubmittersRCV002243532

NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)

SNV
Germline

ChrX:101357510

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

rs_782429199

2 SubmittersRCV002243533 RCV003093931

NM_000061.3(BTK):c.1632-2A>T

SNV
Germline

ChrX:101353990

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

rs_886039555

1 SubmittersRCV002243534

NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)

SNV
Germline

ChrX:101375159

Pathogenic

X-linked agammaglobulinemia

No Assertion Criteria Provided

rs_2147448164

1 SubmittersRCV002243536

NM_000061.3(BTK):c.372G>T (p.Trp124Cys)

SNV
Germline

ChrX:101370017

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002283934

NM_000061.3(BTK):c.904G>A (p.Gly302Arg)

SNV
Germline

ChrX:101358687

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002290390

NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)

SNV
Germline

ChrX:101353268

Pathogenic

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002319758 RCV003512147

NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)

SNV
Germline

ChrX:101353309

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064753

NM_000061.3(BTK):c.1751-1G>A

SNV
Germline

ChrX:101353352

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064754

NM_000061.3(BTK):c.1751-2A>G

SNV
Germline

ChrX:101353353

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003050633

NM_000061.3(BTK):c.1745C>T (p.Ala582Val)

SNV
Germline

ChrX:101353875

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064755

NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)

SNV
Germline

ChrX:101353895

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003050634

NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)

SNV
Germline

ChrX:101353926

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041461

NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)

SNV
Germline

ChrX:101353931

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041462

NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)

SNV
Germline

ChrX:101353988

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041463

NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)

SNV
Germline

ChrX:101354631

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041464

NM_000061.3(BTK):c.1567-2A>C

SNV
Germline

ChrX:101354696

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064756

NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)

SNV
Germline

ChrX:101356101

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064757

NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)

SNV
Germline

ChrX:101357515

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064758

NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)

SNV
Germline

ChrX:101357551

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064759

NM_000061.3(BTK):c.974+1G>A

SNV
Germline

ChrX:101358616

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003050636

NM_000061.3(BTK):c.460T>G (p.Cys154Gly)

SNV
Germline

ChrX:101362621

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041465

NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)

SNV
Germline

ChrX:101362626

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041466

NM_000061.3(BTK):c.309+1G>A

SNV
Germline

ChrX:101371632

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041467

NM_000061.3(BTK):c.141+1G>C

SNV
Germline

ChrX:101375143

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041468

NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)

SNV
Germline

ChrX:101358336

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002824000

NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)

SNV
Germline

ChrX:101362679

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003025522

NM_000061.3(BTK):c.1361A>C (p.His454Pro)

SNV
Germline

ChrX:101356257

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003016643

NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)

SNV
Germline

ChrX:101353935

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003140461

NM_000061.3(BTK):c.271C>T (p.Gln91Ter)

SNV
Germline

ChrX:101371671

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003140473

NM_000061.3(BTK):c.588+2T>C

SNV
Germline

ChrX:101362171

Pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003142242

NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)

SNV
Germline

ChrX:101349943

Conflicting classifications of pathogenicity

X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003479667 RCV003512230

NM_000061.3(BTK):c.895-2A>T

SNV
Germline

ChrX:101358698

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003511617

NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)

SNV
Germline

ChrX:101349944

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513677

NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)

SNV
Germline

ChrX:101353209

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513678

NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)

SNV
Germline

ChrX:101353322

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513679

NM_000061.3(BTK):c.1751-1G>T

SNV
Germline

ChrX:101353352

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513681

NM_000061.3(BTK):c.1750+1G>T

SNV
Germline

ChrX:101353869

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513682

NM_000061.3(BTK):c.1750+1G>A

SNV
Germline

ChrX:101353869

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513683

NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)

SNV
Germline

ChrX:101353877

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513684

NM_000061.3(BTK):c.1361A>T (p.His454Leu)

SNV
Germline

ChrX:101356257

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513686

NM_000061.3(BTK):c.1361A>G (p.His454Arg)

SNV
Germline

ChrX:101356257

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513687

NM_000061.3(BTK):c.889C>T (p.Gln297Ter)

SNV
Germline

ChrX:101359298

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513690

NM_000061.3(BTK):c.778C>T (p.Gln260Ter)

SNV
Germline

ChrX:101360149

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513691

NM_000061.3(BTK):c.588+1G>A

SNV
Germline

ChrX:101362172

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513692

NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)

SNV
Germline

ChrX:101362587

Likely pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003513694

NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)

SNV
Germline

ChrX:101354655

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003625402

NM_000061.3(BTK):c.286G>T (p.Glu96Ter)

SNV
Germline

ChrX:101371656

Pathogenic

X-linked agammaglobulinemia with growth hormone deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003625831

NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)

SNV
Germline

ChrX:101353985

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003988730

NM_000061.3(BTK):c.451C>T (p.Gln151Ter)

SNV
Germline

ChrX:101362630

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV004547308

NM_000061.3(BTK):c.463T>G (p.Cys155Gly)

SNV
Germline

ChrX:101362618

Likely pathogenic

X-linked agammaglobulinemia

Criteria Provided
Single Submitter

1 SubmittersRCV004577086