| - GRCh37:
- ChrX:100626650
- GRCh38:
- ChrX:101371662
| BTK | I128fs, I94fs | X-linked agammaglobulinemia | Pathogenic
(May 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100630152-100630153
- GRCh38:
- ChrX:101375164-101375165
| BTK | E41fs, E75fs | X-linked agammaglobulinemia | Likely pathogenic
(Apr 1, 2023) | no assertion criteria provided |
| - GRCh37:
- ChrX:100617159
- GRCh38:
- ChrX:101362171
| BTK | | X-linked agammaglobulinemia | Pathogenic
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100626659
- GRCh38:
- ChrX:101371671
| BTK | Q125*, Q91* | X-linked agammaglobulinemia | Pathogenic
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608923
- GRCh38:
- ChrX:101353935
| BTK | R386Q, R562Q, R596Q | X-linked agammaglobulinemia | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608256
- GRCh38:
- ChrX:101353268
| BTK | Q436*, Q612*, Q646* | X-linked agammaglobulinemia | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:100613675
- GRCh38:
- ChrX:101358687
| BTK | G302R, G336R | X-linked agammaglobulinemia | Likely pathogenic
(Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100625005
- GRCh38:
- ChrX:101370017
| BTK | W124C, W158C | X-linked agammaglobulinemia | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100611864
- GRCh38:
- ChrX:101356876
| BTK | K420fs, K454fs | X-linked agammaglobulinemia | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100630147
- GRCh38:
- ChrX:101375159
| BTK | Y42*, Y76* | X-linked agammaglobulinemia | Pathogenic
(May 10, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:100629599-100629600
- GRCh38:
- ChrX:101374611-101374612
| BTK | I56fs, I90fs | X-linked agammaglobulinemia | Pathogenic
(May 10, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608978
- GRCh38:
- ChrX:101353990
| BTK | | X-linked agammaglobulinemia | Pathogenic
(May 10, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:100612498
- GRCh38:
- ChrX:101357510
| BTK | Y392*, Y426* | X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100614333
- GRCh38:
- ChrX:101359345
| BTK | W281*, W315* | X-linked agammaglobulinemia | Likely pathogenic
(Jan 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608918
- GRCh38:
- ChrX:101353930
| BTK | S388P, S564P, S598P | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100612582
- GRCh38:
- ChrX:101357594
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
| Benign/Likely benign
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100615075
- GRCh38:
- ChrX:101360087
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Likely pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100608298
- GRCh38:
- ChrX:101353310
| BTK | Y422N, Y598N, Y632N | X-linked agammaglobulinemia | Pathogenic
(Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100615086
- GRCh38:
- ChrX:101360098
| BTK | E277*, E311* | X-linked agammaglobulinemia | Pathogenic
(Aug 2, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:100613686
- GRCh38:
- ChrX:101358698
| BTK | | X-linked agammaglobulinemia | Pathogenic
(Dec 1, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608891-100608892
- GRCh38:
- ChrX:101353903-101353904
| BTK | K397fs, K573fs, K607fs | X-linked agammaglobulinemia | Likely pathogenic
(Nov 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100611251
- GRCh38:
- ChrX:101356263
| BTK | L452P, L486P | X-linked agammaglobulinemia | Likely pathogenic
(Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100613408-100613409
- GRCh38:
- ChrX:101358420-101358421
| BTK | I331fs, I365fs | X-linked agammaglobulinemia | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:100615478
- GRCh38:
- ChrX:101360490
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, not provided
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100609547
- GRCh38:
- ChrX:101354559
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, not provided
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100608309
- GRCh38:
- ChrX:101353321
| BTK | G418E, G594E, G628E | X-linked agammaglobulinemia | Pathogenic
(Feb 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100629531
- GRCh38:
- ChrX:101374543
| BTK | Q112fs, Q78fs | X-linked agammaglobulinemia | Likely pathogenic
(Apr 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100611771
- GRCh38:
- ChrX:101356783
| BTK | | X-linked agammaglobulinemia | Pathogenic
(Dec 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100604483
- GRCh38:
- ChrX:101349495
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100626630
- GRCh38:
- ChrX:101371642
| BTK | Y100*, Y134* | X-linked agammaglobulinemia | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608201
- GRCh38:
- ChrX:101353213
| BTK | M454T, M630T, M664T | X-linked agammaglobulinemia | Likely pathogenic
(Jan 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100615109
- GRCh38:
- ChrX:101360121
| BTK | V269fs, V303fs | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, not provided
| Pathogenic/Likely pathogenic
(Apr 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100608895
- GRCh38:
- ChrX:101353907
| BTK | Y395*, Y571*, Y605* | X-linked agammaglobulinemia | Likely pathogenic
(Feb 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100641106
- GRCh38:
- ChrX:101386118
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100630173
- GRCh38:
- ChrX:101375185
| BTK | V34M, V68M | not provided, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100604876
- GRCh38:
- ChrX:101349888
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Conflicting interpretations of pathogenicity
(Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100604652
- GRCh38:
- ChrX:101349664
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100612573
- GRCh38:
- ChrX:101357585
| BTK | | not specified, X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic/Likely pathogenic
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100630237
- GRCh38:
- ChrX:101375249
| BTK | K12N, K46N | X-linked agammaglobulinemia | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100615610-100615611
- GRCh38:
- ChrX:101360622-101360623
| BTK | Y241fs, Y275fs | X-linked agammaglobulinemia | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608305-100608306
- GRCh38:
- ChrX:101353317-101353318
| BTK | M630fs, M596fs, M420fs | X-linked agammaglobulinemia | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100611869
- GRCh38:
- ChrX:101356881
| BTK | Y418H, Y452H | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia, not specified
| Benign/Likely benign
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100615139
- GRCh38:
- ChrX:101360151
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic/Likely pathogenic
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100608327
- GRCh38:
- ChrX:101353339
| BTK | W588*, W622*, W412* | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic
(May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100612536
- GRCh38:
- ChrX:101357548
| BTK | Q380*, Q414* | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic
(Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100615677
- GRCh38:
- ChrX:101360689
| BTK | V219fs, V253fs | X-linked agammaglobulinemia | Pathogenic
(Dec 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100629524
- GRCh38:
- ChrX:101374536
| BTK | | X-linked agammaglobulinemia, Inherited Immunodeficiency Diseases, X-linked agammaglobulinemia with growth hormone deficiency
| Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100617160
- GRCh38:
- ChrX:101362172
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100629583-100629585
- GRCh38:
- ChrX:101374595-101374597
| BTK | K94del, K60del | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia | Pathogenic
(May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100613396
- GRCh38:
- ChrX:101358408
| BTK | V335D, V369D | X-linked agammaglobulinemia | Pathogenic
(Aug 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100611080
- GRCh38:
- ChrX:101356092
| BTK | M509T, M543T | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
| Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100615605-100615606
- GRCh38:
- ChrX:101360617-101360618
| BTK | I243fs, I277fs | X-linked agammaglobulinemia | Pathogenic
(Sep 26, 2018) | no assertion criteria provided |
| - GRCh37:
- ChrX:100615109-100615116
- GRCh38:
- ChrX:101360121-101360128
| BTK | N301fs, N267fs | X-linked agammaglobulinemia | Likely pathogenic
(Aug 11, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100617159
- GRCh38:
- ChrX:101362171
| BTK | | X-linked agammaglobulinemia | Likely pathogenic
(Jun 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100629600
- GRCh38:
- ChrX:101374612
| BTK | S55*, S89* | X-linked agammaglobulinemia | Likely pathogenic
(Jun 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100609665-100609668
- GRCh38:
- ChrX:101354677-101354680
| BTK | C351fs, C527fs, C561fs | X-linked agammaglobulinemia with growth hormone deficiency, not provided | Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100611131
- GRCh38:
- ChrX:101356143
| BTK | R492H, R526H | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
| Conflicting interpretations of pathogenicity
(Sep 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100614312
- GRCh38:
- ChrX:101359324
| BTK | R288Q, R322Q | not provided, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency,
not specified | Pathogenic
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100625006
- GRCh38:
- ChrX:101370018
| BTK | W124*, W158* | X-linked agammaglobulinemia | Likely pathogenic
(Jan 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100615612
- GRCh38:
- ChrX:101360624
| BTK | E240D, E274D | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100608310
- GRCh38:
- ChrX:101353322
| BTK | G594R, G628R, G418R | not specified, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
| Pathogenic
(Jan 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100641124
- GRCh38:
- ChrX:101386136
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100617534
- GRCh38:
- ChrX:101362546
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100614323
- GRCh38:
- ChrX:101359335
| BTK | | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia | Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100613694
- GRCh38:
- ChrX:101358706
| BTK | | not specified, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
| Benign/Likely benign
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100613625
- GRCh38:
- ChrX:101358637
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, not provided
| Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100604757
- GRCh38:
- ChrX:101349769
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, not provided
| Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100604681
- GRCh38:
- ChrX:101349693
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100604539
- GRCh38:
- ChrX:101349551
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100604531
- GRCh38:
- ChrX:101349543
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100604530-100604531
- GRCh38:
- ChrX:101349542-101349543
| BTK | | Isolated congenital growth hormone deficiency, X-linked agammaglobulinemia | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100615717
- GRCh38:
- ChrX:101360729
| BTK | E205D, E239D | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, not specified,
not provided, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
| Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100629548-100629549
- GRCh38:
- ChrX:101374560-101374561
| BTK | N72fs, N106fs | X-linked agammaglobulinemia with growth hormone deficiency, not provided, X-linked agammaglobulinemia
| Pathogenic
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100608191
- GRCh38:
- ChrX:101353203
| BTK | | not provided, not specified, X-linked agammaglobulinemia,
X-linked agammaglobulinemia with growth hormone deficiency | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100630121
- GRCh38:
- ChrX:101375133
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia,
X-linked agammaglobulinemia with growth hormone deficiency, not provided, not specified
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100604953
- GRCh38:
- ChrX:101349965
| BTK | | not specified, X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100613402
- GRCh38:
- ChrX:101358414
| BTK | H333R, H367R | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia | Conflicting interpretations of pathogenicity
(May 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:100613686
- GRCh38:
- ChrX:101358698
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic/Likely pathogenic
(Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100614336
- GRCh38:
- ChrX:101359348
| BTK | | X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency | Likely pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100615141
- GRCh38:
- ChrX:101360153
| BTK | | X-linked agammaglobulinemia | Uncertain significance
(Aug 18, 2011) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100615140
- GRCh38:
- ChrX:101360152
| BTK | | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100617594-100617597
- GRCh38:
- ChrX:101362606-101362609
| BTK | T158fs, T192fs | X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia | Pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:100608928-100608935
- GRCh38:
- ChrX:101353940-101353947
| BTK | K382fs, K592fs, K558fs | X-linked agammaglobulinemia | Likely pathogenic
(Aug 18, 2011) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100611095
- GRCh38:
- ChrX:101356107
| BTK | D504V, D538V | X-linked agammaglobulinemia | Likely pathogenic
(Aug 18, 2011) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100611151
- GRCh38:
- ChrX:101356163
| BTK | Y485*, Y519* | X-linked agammaglobulinemia | Pathogenic
(Aug 18, 2011) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608019-100614090
- GRCh38:
- ChrX:101353031-101359102
| BTK | | X-linked agammaglobulinemia | Pathogenic
(Jan 1, 2003) | no assertion criteria provided |
| - GRCh37:
- ChrX:100641045
- GRCh38:
- ChrX:101386057
| BTK | | X-linked agammaglobulinemia | Pathogenic
(Oct 1, 2001) | no assertion criteria provided |
| - GRCh37:
- ChrX:100615689-100615690
- GRCh38:
- ChrX:101360701-101360702
| BTK | S214fs, S248fs | X-linked agammaglobulinemia | Pathogenic
(Oct 4, 2001) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608923
- GRCh38:
- ChrX:101353935
| BTK | R562P, R596P, R386P | not provided | Pathogenic
(Aug 20, 2015) | criteria provided, single submitter |
| | BTK | | X-linked agammaglobulinemia | Pathogenic
(Oct 1, 1994) | no assertion criteria provided |
| - GRCh37:
- ChrX:100604898
- GRCh38:
- ChrX:101349910
| BTK | L652P, L476P, L686P | X-linked agammaglobulinemia | Pathogenic
(Oct 1, 1994) | no assertion criteria provided |
| | BTK | | X-linked agammaglobulinemia | Pathogenic
(Oct 29, 2018) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608184
- GRCh38:
- ChrX:101353196
| BTK | E636*, E460*, E670* | X-linked agammaglobulinemia | Pathogenic
(Jan 1, 1994) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608201
- GRCh38:
- ChrX:101353213
| BTK | M630K, M664K, M454K | X-linked agammaglobulinemia | Pathogenic
(Oct 1, 1994) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608252
- GRCh38:
- ChrX:101353264
| BTK | G613D, G437D, G647D | X-linked agammaglobulinemia | Likely pathogenic
(Mar 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608270
- GRCh38:
- ChrX:101353282
| BTK | A607D, A431D, A641D | X-linked agammaglobulinemia | Pathogenic
(Jan 1, 1994) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608317
- GRCh38:
- ChrX:101353329
| BTK | Y591*, Y625*, Y415* | X-linked agammaglobulinemia | Likely pathogenic
(Jun 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:100608324
- GRCh38:
- ChrX:101353336
| BTK | E589G, E413G, E623G | X-linked agammaglobulinemia | Pathogenic
(Oct 1, 1994) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608867
- GRCh38:
- ChrX:101353879
| BTK | W581R, W615R, W405R | X-linked agammaglobulinemia | Pathogenic
(Oct 1, 1994) | no assertion criteria provided |
| - GRCh37:
- ChrX:100608924
- GRCh38:
- ChrX:101353936
| BTK | R562W, R596W, R386W | X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic
(Sep 20, 2022) | criteria provided, single submitter |