Total 311 pathogenic variants reported for X-linked agammaglobulinemia 
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 SubmittersRCV000012095RCV000581245RCV001204367RCV001267912
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
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255788 rs_128620187

4 SubmittersRCV000012097RCV005089231
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 SubmittersRCV000012098RCV001027550RCV002512977
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) SNV
Germline		 ChrX:101358330 Likely pathogenic X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Single Submitter
 CA121429 rs_28935478

2 SubmittersRCV000012099RCV003511975
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
Autosomal recessive agammaglobulinemia 1
Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255794 rs_128620185

7 SubmittersRCV000012101RCV000583846RCV000427660RCV000819061
NM_000061.3(BTK):c.2T>C (p.Met1Thr) SNV
Germline		 ChrX:101375283 Pathogenic/Likely pathogenic X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255796 rs_128620186

3 SubmittersRCV000012102RCV003511976RCV005641495
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 SubmittersRCV000012107RCV003511977
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 SubmittersRCV000012115RCV003511978
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

12 SubmittersRCV000012116RCV000583310RCV001221640RCV001269823
NM_000061.3(BTK):c.839+1G>A SNV
Germline		 ChrX:101360087 Pathogenic X-linked agammaglobulinemia No Assertion Criteria Provided
 CA413930674 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
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255812 rs_128621194

6 SubmittersRCV000012119RCV000768159RCV001384086RCV001701564
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

7 SubmittersRCV000012130RCV000378493RCV000582314RCV001061773
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 SubmittersRCV000012131RCV000637056RCV002482855
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

4 SubmittersRCV000012134RCV001810852
NM_000061.3(BTK):c.1631+1G>T SNV
Germline		 ChrX:101354629 Pathogenic X-linked agammaglobulinemia No Assertion Criteria Provided
 CA413921810 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
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255833 rs_128621204

5 SubmittersRCV000012136RCV000581337RCV000816209RCV006277644
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg) SNV
Germline		 ChrX:101353879 Pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA255835 rs_128621205

2 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 SubmittersRCV000012139RCV003511979
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/Likely pathogenic X-linked agammaglobulinemia
Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255853 rs_104894770

3 SubmittersRCV000012147RCV000485427RCV005089234
NM_000061.3(BTK):c.-31+5G>A SNV
Germline		 ChrX:101386057 Pathogenic X-linked agammaglobulinemia No Assertion Criteria Provided
 CA658795212 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 Conflicting classifications of pathogenicity X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Conflicting Classifications
 CA260189 rs_193922125

2 SubmittersRCV000029410RCV006461226
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 SubmittersRCV000029414RCV001055502
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 SubmittersRCV000029416RCV002513237
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 SubmittersRCV000029417RCV001852584
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 SubmittersRCV000029418RCV002513238
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 SubmittersRCV000175387RCV000637057RCV001167166
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

10 SubmittersRCV000224614RCV000266994RCV000380244RCV000445094RCV000660378
NM_000061.3(BTK):c.1632-2A>G SNV
Germline		 ChrX:101353990 Pathogenic Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588732 rs_886039555

2 SubmittersRCV000255954RCV005090299
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 SubmittersRCV000267626RCV002518801
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 SubmittersRCV000290503RCV002518002
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 SubmittersRCV000340012RCV002518102
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 SubmittersRCV000260615RCV000369368
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
not specified		 Criteria Provided
Conflicting Classifications
 CA10473165 rs_782697907

4 SubmittersRCV000265905RCV000320999RCV003430977RCV004586696
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) SNV
Germline/somatic		 ChrX:101356176 Conflicting classifications of pathogenicity 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

4 SubmittersRCV000781188RCV001243610RCV001269707RCV003318375
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) SNV
Germline		 ChrX:101356177 Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16602659 rs_1057519826

3 SubmittersRCV001243609RCV001269602
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
X-linked agammaglobulinemia		 Criteria Provided
Conflicting Classifications
 CA16608699 rs_1057521814

4 SubmittersRCV000438550RCV000798428RCV005860078
NM_000061.3(BTK):c.894+1G>A SNV
Germline		 ChrX:101359292 Pathogenic/Likely pathogenic Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621159 rs_1064793859

4 SubmittersRCV000480016RCV002250636RCV004720259
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 SubmittersRCV000507546RCV001857258RCV003150249
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 SubmittersRCV000521066RCV000707368
NM_000061.3(BTK):c.1475G>A (p.Arg492His) SNV
Germline		 ChrX:101356143 Conflicting classifications of pathogenicity Autosomal recessive agammaglobulinemia 1
X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Conflicting Classifications
 CA333096804 rs_782338603

3 SubmittersRCV000581533RCV002530824RCV002483556
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
not specified
X-linked agammaglobulinemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413930070 rs_1555978277

6 SubmittersRCV000584540RCV000657848RCV000690161RCV001001062RCV001192716
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 SubmittersRCV000584393RCV000586376RCV003512058
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.1492C>G (p.Leu498Val) SNV
Germline		 ChrX:101356126 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter
 CA413923755 rs_1555977807

1 SubmittersRCV000637055
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly) SNV
Germline		 ChrX:101356060 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
 CA413938098 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
 CA413920557 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
 CA413923414 rs_1569291644

3 SubmittersRCV000692851RCV003224377RCV004017718
NM_000061.3(BTK):c.1004T>A (p.Val335Asp) SNV
Germline		 ChrX:101358408 Pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413928400 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
 CA413926351 rs_1569292021

2 SubmittersRCV000780074RCV001055303
NM_000061.3(BTK):c.240G>A (p.Pro80=) SNV
Germline		 ChrX:101374536 Pathogenic/Likely pathogenic X-linked agammaglobulinemia
Inherited Immunodeficiency Diseases
X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA517535667 rs_1569296295

5 SubmittersRCV000780072RCV001027548RCV001873186RCV005897394
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
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413933900 rs_1569293252

3 SubmittersRCV000780071RCV001039149RCV005897393
NM_000061.3(BTK):c.142-205A>G SNV
Germline		 ChrX:101374839 Conflicting classifications of pathogenicity Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Conflicting Classifications
 CA915951325 rs_1603019780

2 SubmittersRCV000788918RCV006464239
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
 CA413919551 rs_1603001805

2 SubmittersRCV000799270RCV000990916
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
 CA413920443 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
 CA413920454 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
 CA413922482 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
 CA413923127 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
 CA413923535 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
 CA413924901 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
 CA413925190 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
 CA413931608 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
 CA413938666 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
 CA413939777 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
 CA413919651 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
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413931367 rs_1603007942

3 SubmittersRCV000801814RCV001796233RCV005901987
NM_000061.3(BTK):c.36G>T (p.Lys12Asn) SNV
Unknown		 ChrX:101375249 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413939762 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
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413926707 rs_1603005659

4 SubmittersRCV001001214RCV001869427RCV002549158RCV005912326
NM_000061.3(BTK):c.764G>A (p.Arg255Gln) SNV
Germline		 ChrX:101360580 Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Conflicting Classifications
 CA413931575 rs_1603008329

2 SubmittersRCV001027552RCV006465071
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
 CA413918362 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
 CA413918698 rs_1926354581

2 SubmittersRCV001042408RCV003153903
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
 CA413919886 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
 CA413925273 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
 CA413937245 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
 CA413939883 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
 CA916081275 rs_1926404279

1 SubmittersRCV001064751
NM_000061.3(BTK):c.1631+2T>C SNV
Germline		 ChrX:101354628 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413921809 rs_1926404536

2 SubmittersRCV001047903RCV005912485
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
 CA10472949 rs_782047787

2 SubmittersRCV001167164RCV001167165
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
 CA413918481 rs_128621210

3 SubmittersRCV001194091RCV003512109RCV003886487
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) SNV
Germline		 ChrX:101353907 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413920258 rs_1926380106

1 SubmittersRCV001192717
NM_000061.3(BTK):c.867T>A (p.Ser289Arg) SNV
Germline		 ChrX:101359320 Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Conflicting Classifications
 CA413930025 rs_1926588297

2 SubmittersRCV001215240RCV004726974
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
 CA413939518 rs_1927168815

3 SubmittersRCV001217971RCV003984854
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter) SNV
Germline		 ChrX:101353337 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413919533 rs_1926358858

2 SubmittersRCV001209246RCV005909002
NM_000061.3(BTK):c.465C>A (p.Cys155Ter) SNV
Germline		 ChrX:101362616 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia		 Criteria Provided
Single Submitter
 CA413935249 rs_1926710166

2 SubmittersRCV001212558RCV005861214
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
 CA413937216 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
 CA413922560 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
 CA413924676 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
 CA413934621 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
 CA413935049 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
 CA413939045 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
 CA413929728 rs_1926588125

1 SubmittersRCV001245402
NM_000061.3(BTK):c.895-1G>T SNV
Germline		 ChrX:101358697 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413929433 rs_1926563964

2 SubmittersRCV001243870RCV005909173
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) SNV
Germline		 ChrX:101371642 Pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413938046 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
 CA413917735 rs_1926220192

2 SubmittersRCV001269826RCV001386308
NM_000061.3(BTK):c.1349+1G>A SNV
Germline		 ChrX:101356783 Pathogenic X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413924728 rs_2147428155

3 SubmittersRCV001594436RCV003512114RCV005910998
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
 CA413917685 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
 CA413919351 rs_868967798

2 SubmittersRCV001367344RCV001548637
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
 CA413924460 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
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413927460 rs_2147429777

2 SubmittersRCV001384085RCV005912638
NM_000061.3(BTK):c.520+1G>A SNV
Germline		 ChrX:101362560 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter
 CA413934776 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
 CA413938240 rs_2147444958

1 SubmittersRCV001391023
NM_000061.3(BTK):c.83G>T (p.Arg28Leu) SNV
Germline		 ChrX:101375202 Pathogenic/Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413939515 rs_128620185

2 SubmittersRCV001389176RCV006557424
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
 CA413939630 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
 CA413919434 rs_2147424186

1 SubmittersRCV001530181
NM_000061.3(BTK):c.974+5G>A SNV
Germline		 ChrX:101358612 Likely pathogenic Condition: not provided
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2499226281 rs_2147430161

2 SubmittersRCV001572297RCV006467707
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) SNV
Unknown		 ChrX:101356263 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413924621 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
 CA413930819 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
 CA413919335 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
 CA413937218 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
 CA413928637 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
 CA413932492 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
 CA413919556 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
 CA413924349 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
 CA413937131 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
 CA413938034 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
 CA413936829 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
 CA413922923 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
 CA413918290 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
 CA2573159075 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
 CA2573159069 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
 CA413917688 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
 CA413923636 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
 CA413923311 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
 CA413927702 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
 CA413930670 rs_1569292649

2 SubmittersRCV002052261RCV002551234
NM_000061.3(BTK):c.842G>A (p.Trp281Ter) SNV
Germline		 ChrX:101359345 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413930386 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
 CA413925959 rs_782429199

2 SubmittersRCV002243533RCV003093931
NM_000061.3(BTK):c.1632-2A>T SNV
Germline		 ChrX:101353990 Pathogenic X-linked agammaglobulinemia No Assertion Criteria Provided
 CA413921679 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
 CA413939289 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
 CA413936977 rs_2520657043

1 SubmittersRCV002283934
NM_000061.3(BTK):c.904G>A (p.Gly302Arg) SNV
Germline		 ChrX:101358687 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413929292 rs_2520574221

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
 CA413918950 rs_2520527745

2 SubmittersRCV002319758RCV003512147
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
 CA413919315 rs_2520528219

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
 CA413919658 rs_1603001846

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
 CA413919668 rs_2520529056

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
 CA413919893 rs_2520533213

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
 CA413920171 rs_2520533445

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
 CA413920459 rs_2520534125

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
 CA413920542 rs_2147424988

1 SubmittersRCV003041462
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser) SNV
Germline		 ChrX:101353988 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter
 CA413921655 rs_1555977496

1 SubmittersRCV003041463
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly) SNV
Germline		 ChrX:101354631 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413921829 rs_2520540378

2 SubmittersRCV003041464RCV005930333
NM_000061.3(BTK):c.1567-2A>C SNV
Germline		 ChrX:101354696 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter
 CA413922562 rs_1555977598

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
 CA413923508 rs_2520551846

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
 CA413926008 rs_2520564210

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
 CA413926388 rs_2147429006

1 SubmittersRCV003064759
NM_000061.3(BTK):c.974+1G>A SNV
Germline		 ChrX:101358616 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413928697 rs_2520573356

2 SubmittersRCV003050636RCV005930334
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
 CA413935315 rs_2520611305

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
 CA413935348 rs_2520611436

1 SubmittersRCV003041466
NM_000061.3(BTK):c.309+1G>A SNV
Germline		 ChrX:101371632 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413938016 rs_1927036027

2 SubmittersRCV003041467RCV005930335
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
 CA413939212 rs_2520693959

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
 CA413927770 rs_2520570662

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
 CA413936005 rs_1603010485

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
 CA413924590 rs_2520553985

1 SubmittersRCV003016643
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln) SNV
Germline		 ChrX:101353935 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413921299 rs_104894770

1 SubmittersRCV003140461
NM_000061.3(BTK):c.271C>T (p.Gln91Ter) SNV
Germline		 ChrX:101371671 Pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413938121 rs_2520668410

1 SubmittersRCV003140473
NM_000061.3(BTK):c.588+2T>C SNV
Germline		 ChrX:101362171 Pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413933896 rs_1555978777

1 SubmittersRCV003142242
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro) SNV
Germline		 ChrX:101349943 Likely pathogenic X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413917734 rs_1926220192

2 SubmittersRCV003479667RCV003512230
NM_000061.3(BTK):c.895-2A>T SNV
Germline		 ChrX:101358698 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter
 CA413929448 rs_193922132

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
 CA413917743 rs_2147419990

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
 CA413918454 rs_2520526807

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
 CA413919436 rs_1555977339

1 SubmittersRCV003513679
NM_000061.3(BTK):c.1762T>C (p.Trp588Arg) SNV
Germline		 ChrX:101353340 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter
 CA413919558 rs_2520528716

1 SubmittersRCV003513680
NM_000061.3(BTK):c.1751-1G>T SNV
Germline		 ChrX:101353352 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter
 CA413919649 rs_1603001846

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
 CA413919856 rs_2520533109

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
 CA413919866 rs_2520533109

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
 CA413919962 rs_1603002341

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
 CA413924586 rs_2520553985

1 SubmittersRCV003513686
NM_000061.3(BTK):c.1361A>G (p.His454Arg) SNV
Germline		 ChrX:101356257 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413924588 rs_2520553985

2 SubmittersRCV003513687RCV004697302
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
 CA413929646 rs_2520579087

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
 CA413931357 rs_2147431970

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
 CA413933907 rs_1569293252

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
 CA413935069 rs_2147435884

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
 CA413922123 rs_1603003195

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
 CA413938079 rs_2520668139

1 SubmittersRCV003625831
NM_000061.3(BTK):c.522C>T (p.Ser174=) SNV
Germline		 ChrX:101362239 Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA10473156 rs_375885718

2 SubmittersRCV003624096RCV006454467
NM_000061.3(BTK):c.593T>C (p.Leu198Ser) SNV
Germline		 ChrX:101360751 Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10473143 rs_782038889

2 SubmittersRCV003624183RCV005537655
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter) SNV
Germline		 ChrX:101353985 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413921628 rs_2147425059

1 SubmittersRCV003988730
NM_000061.3(BTK):c.451C>T (p.Gln151Ter) SNV
Germline		 ChrX:101362630 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 CA413935395 rs_2520611496

1 SubmittersRCV004547308
NM_000061.3(BTK):c.463T>G (p.Cys155Gly) SNV
Germline		 ChrX:101362618 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter
 rs_2520611258

1 SubmittersRCV004577086
NM_000061.3(BTK):c.1627T>C (p.Ser543Pro) SNV
Germline		 ChrX:101354634 Pathogenic X-linked agammaglobulinemia No Assertion Criteria Provided

1 SubmittersRCV005414343
NM_000061.3(BTK):c.723T>G (p.Tyr241Ter) SNV
Germline		 ChrX:101360621 Pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter

1 SubmittersRCV005054505
NM_000061.3(BTK):c.193G>T (p.Glu65Ter) SNV
Germline		 ChrX:101374583 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005202084
NM_000061.3(BTK):c.1793A>C (p.Tyr598Ser) SNV
Germline		 ChrX:101353309 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005199121
NM_000061.3(BTK):c.1790C>T (p.Pro597Leu) SNV
Germline		 ChrX:101353312 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005199122
NM_000061.3(BTK):c.1578C>G (p.Asn526Lys) SNV
Germline		 ChrX:101354683 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199125RCV006567058
NM_000061.3(BTK):c.1350-2A>G SNV
Germline		 ChrX:101356270 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005199128
NM_000061.3(BTK):c.1072C>T (p.Leu358Phe) SNV
Germline		 ChrX:101358340 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005199131
NM_000061.3(BTK):c.894+1G>C SNV
Germline		 ChrX:101359292 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005199132
NM_000061.3(BTK):c.776+2T>C SNV
Germline		 ChrX:101360566 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005199134
NM_000061.3(BTK):c.332T>G (p.Leu111Arg) SNV
Germline		 ChrX:101370057 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005199137
NM_000061.3(BTK):c.182T>A (p.Ile61Asn) SNV
Germline		 ChrX:101374594 Pathogenic/Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199140RCV005938035
NM_000061.3(BTK):c.1289A>G (p.Lys430Arg) SNV
Germline		 ChrX:101356844 Likely pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter

1 SubmittersRCV005416809
NM_000061.3(BTK):c.1621G>T (p.Gly541Cys) SNV
Germline		 ChrX:101354640 Likely pathogenic X-linked agammaglobulinemia
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter

2 SubmittersRCV005429128RCV005934215
NM_000061.3(BTK):c.1748T>C (p.Phe583Ser) SNV
Germline		 ChrX:101353872 Pathogenic X-linked agammaglobulinemia No Assertion Criteria Provided

1 SubmittersRCV005862058
NM_000061.3(BTK):c.1486C>T (p.Gln496Ter) SNV
Germline		 ChrX:101356132 Pathogenic X-linked agammaglobulinemia No Assertion Criteria Provided

1 SubmittersRCV005862059
NM_000061.3(BTK):c.974+1G>T SNV
Germline		 ChrX:101358616 Pathogenic Thyroid cancer, nonmedullary, 1
X-linked agammaglobulinemia with growth hormone deficiency		 Criteria Provided
Single Submitter

2 SubmittersRCV006171322RCV006475284
NM_000061.3(BTK):c.1767A>T (p.Glu589Asp) SNV
Germline		 ChrX:101353335 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006495015
NM_000061.3(BTK):c.1535T>A (p.Leu512Gln) SNV
Germline		 ChrX:101356083 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006495017
NM_000061.3(BTK):c.1176C>G (p.Tyr392Ter) SNV
Germline		 ChrX:101357510 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006506016
NM_000061.3(BTK):c.1300G>T (p.Glu434Ter) SNV
Germline		 ChrX:101356833 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006508084
NM_000061.3(BTK):c.1117C>A (p.Leu373Ile) SNV
Germline		 ChrX:101357569 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006495019
NM_000061.3(BTK):c.1762T>A (p.Trp588Arg) SNV
Germline		 ChrX:101353340 Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006534065
NM_000061.3(BTK):c.931A>T (p.Lys311Ter) SNV
Germline		 ChrX:101358660 Pathogenic X-linked agammaglobulinemia with growth hormone deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006576467
NM_000061.3(BTK):c.862C>G (p.Arg288Gly) SNV
Germline		 ChrX:101359325 Pathogenic X-linked agammaglobulinemia Criteria Provided
Single Submitter

1 SubmittersRCV006606007