| - GRCh37:
- Chr5:155338082-156899968
| CYFIP2, FNDC9, GARIN3, HAVCR1, HAVCR2, ITK, MED7, NIPAL4, SGCD, TIMD4 | | Lymphoproliferative syndrome 1 | Uncertain significance
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155338082-156899968
| CYFIP2, FNDC9, GARIN3, HAVCR1, HAVCR2, ITK, MED7, NIPAL4, SGCD, TIMD4 | | Lymphoproliferative syndrome 1 | Pathogenic
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156608073
- GRCh38:
- Chr5:157181062
| ITK | R29C | Lymphoproliferative syndrome 1 | Uncertain significance
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156644934
- GRCh38:
- Chr5:157217924
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156676028
- GRCh38:
- Chr5:157249018
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672732
- GRCh38:
- Chr5:157245722
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156638321
- GRCh38:
- Chr5:157211310
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156670760
- GRCh38:
- Chr5:157243750
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156679630
- GRCh38:
- Chr5:157252620
| ITK | R602L | Lymphoproliferative syndrome 1 | Uncertain significance
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671351
- GRCh38:
- Chr5:157244341
| ITK | M438L | Lymphoproliferative syndrome 1 | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156649947
- GRCh38:
- Chr5:157222937
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156608087
- GRCh38:
- Chr5:157181076
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671486
- GRCh38:
- Chr5:157244476
| ITK | L483M | Lymphoproliferative syndrome 1 | Uncertain significance
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156650034
- GRCh38:
- Chr5:157223024
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156641216
- GRCh38:
- Chr5:157214205
| ITK | N114H | Lymphoproliferative syndrome 1 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671502
- GRCh38:
- Chr5:157244492
| ITK | | Lymphoproliferative syndrome 1 | Uncertain significance
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156667088
- GRCh38:
- Chr5:157240078
| ITK | I290V | Lymphoproliferative syndrome 1 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156608075
- GRCh38:
- Chr5:157181064
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156659378
- GRCh38:
- Chr5:157232368
| ITK | K248* | Lymphoproliferative syndrome 1 | Pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156665099
- GRCh38:
- Chr5:157238089
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156668729
- GRCh38:
- Chr5:157241719
| ITK | | Lymphoproliferative syndrome 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156650008
- GRCh38:
- Chr5:157222998
| ITK | V211I | Lymphoproliferative syndrome 1 | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156655371
- GRCh38:
- Chr5:157228361
| ITK | E238A | Lymphoproliferative syndrome 1 | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156655315
- GRCh38:
- Chr5:157228305
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156644909
- GRCh38:
- Chr5:157217899
| ITK | D163H | Lymphoproliferative syndrome 1 | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671451
- GRCh38:
- Chr5:157244441
| ITK | A471V | Lymphoproliferative syndrome 1 | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671467
- GRCh38:
- Chr5:157244457
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156649960
- GRCh38:
- Chr5:157222950
| ITK | N195H | Lymphoproliferative syndrome 1 | Uncertain significance
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675889
- GRCh38:
- Chr5:157248879
| ITK | G555fs | Lymphoproliferative syndrome 1 | Pathogenic
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156670773
- GRCh38:
- Chr5:157243763
| ITK | E401* | Lymphoproliferative syndrome 1 | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156655317
- GRCh38:
- Chr5:157228307
| ITK | Y220C | Lymphoproliferative syndrome 1 | Uncertain significance
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675899
- GRCh38:
- Chr5:157248889
| ITK | P558L | Lymphoproliferative syndrome 1 | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671360
- GRCh38:
- Chr5:157244350
| ITK | G441S | Lymphoproliferative syndrome 1 | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156641256
- GRCh38:
- Chr5:157214245
| ITK | D127fs | Lymphoproliferative syndrome 1 | Pathogenic
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675984
- GRCh38:
- Chr5:157248974
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156679671
- GRCh38:
- Chr5:157252661
| ITK | A616S | Lymphoproliferative syndrome 1 | Uncertain significance
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156668650-156668653
- GRCh38:
- Chr5:157241640-157241643
| ITK | | Lymphoproliferative syndrome 1 | Uncertain significance
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156665130
- GRCh38:
- Chr5:157238120
| ITK | | Lymphoproliferative syndrome 1 | Uncertain significance
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675912
- GRCh38:
- Chr5:157248902
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156608060
- GRCh38:
- Chr5:157181049
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672905
- GRCh38:
- Chr5:157245895
| ITK | D510V | Lymphoproliferative syndrome 1 | Uncertain significance
(Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672906
- GRCh38:
- Chr5:157245896
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156635920
- GRCh38:
- Chr5:157208909
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156641315
- GRCh38:
- Chr5:157214304
| ITK | D147H | Lymphoproliferative syndrome 1 | Uncertain significance
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156679655
- GRCh38:
- Chr5:157252645
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156650042
- GRCh38:
- Chr5:157223032
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156679611
- GRCh38:
- Chr5:157252601
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671264
- GRCh38:
- Chr5:157244254
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156650044
- GRCh38:
- Chr5:157223034
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156668741
- GRCh38:
- Chr5:157241731
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671381
- GRCh38:
- Chr5:157244371
| ITK | R448G | Lymphoproliferative syndrome 1 | Uncertain significance
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156668714
- GRCh38:
- Chr5:157241704
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156668722
- GRCh38:
- Chr5:157241712
| ITK | L351R | Lymphoproliferative syndrome 1 | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156641246
- GRCh38:
- Chr5:157214235
| ITK | F124L | Lymphoproliferative syndrome 1 | Uncertain significance
(Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156635989
- GRCh38:
- Chr5:157208978
| ITK | Y76* | Lymphoproliferative syndrome 1 | Pathogenic
(Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156655360
- GRCh38:
- Chr5:157228350
| ITK | | Lymphoproliferative syndrome 1 | Uncertain significance
(Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156679629
- GRCh38:
- Chr5:157252619
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671447
- GRCh38:
- Chr5:157244437
| ITK | M470V | Lymphoproliferative syndrome 1 | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156655314
- GRCh38:
- Chr5:157228304
| ITK | G219A | Lymphoproliferative syndrome 1 | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671341
- GRCh38:
- Chr5:157244331
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156659338
- GRCh38:
- Chr5:157232328
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672881
- GRCh38:
- Chr5:157245871
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156667198
- GRCh38:
- Chr5:157240188
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jun 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156635921
- GRCh38:
- Chr5:157208910
| ITK | S54T | Lymphoproliferative syndrome 1 | Uncertain significance
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156665132
- GRCh38:
- Chr5:157238122
| ITK | A261D | Lymphoproliferative syndrome 1 | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672880
- GRCh38:
- Chr5:157245870
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156655309
- GRCh38:
- Chr5:157228299
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675931
- GRCh38:
- Chr5:157248921
| ITK | E569K | Lymphoproliferative syndrome 1 | Uncertain significance
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675959
- GRCh38:
- Chr5:157248949
| ITK | Y578C | Lymphoproliferative syndrome 1 | Uncertain significance
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675930
- GRCh38:
- Chr5:157248920
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156644913
- GRCh38:
- Chr5:157217903
| ITK | N164T | Lymphoproliferative syndrome 1 | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672909
- GRCh38:
- Chr5:157245899
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156608130
- GRCh38:
- Chr5:157181119
| ITK | | Lymphoproliferative syndrome 1 | Uncertain significance
(Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675967
- GRCh38:
- Chr5:157248957
| ITK | R581G | Lymphoproliferative syndrome 1 | Uncertain significance
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671289
- GRCh38:
- Chr5:157244279
| ITK | K417T | Lymphoproliferative syndrome 1 | Uncertain significance
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156649914
- GRCh38:
- Chr5:157222904
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156635980
- GRCh38:
- Chr5:157208969
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156670707
- GRCh38:
- Chr5:157243697
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156671320
- GRCh38:
- Chr5:157244310
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672952
- GRCh38:
- Chr5:157245942
| ITK | S526P | Lymphoproliferative syndrome 1 | Uncertain significance
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156667077
- GRCh38:
- Chr5:157240067
| ITK | N286T | Lymphoproliferative syndrome 1 | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156668663
- GRCh38:
- Chr5:157241653
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156638281-156638282
- GRCh38:
- Chr5:157211270-157211271
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156665221
- GRCh38:
- Chr5:157238211
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Dec 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156635911
- GRCh38:
- Chr5:157208900
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156644926
- GRCh38:
- Chr5:157217916
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Dec 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156672883
- GRCh38:
- Chr5:157245873
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156608003
- GRCh38:
- Chr5:157180992
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156673023
- GRCh38:
- Chr5:157246013
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156667062-156667065
- GRCh38:
- Chr5:157240052-157240055
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Nov 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156649902
- GRCh38:
- Chr5:157222892
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156670613
- GRCh38:
- Chr5:157243603
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156667215
- GRCh38:
- Chr5:157240205
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156665142
- GRCh38:
- Chr5:157238132
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Nov 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675936
- GRCh38:
- Chr5:157248926
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156641193
- GRCh38:
- Chr5:157214182
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156659421
- GRCh38:
- Chr5:157232411
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156667147
- GRCh38:
- Chr5:157240137
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Mar 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156675945
- GRCh38:
- Chr5:157248935
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156644933
- GRCh38:
- Chr5:157217923
| ITK | | Lymphoproliferative syndrome 1 | Likely benign
(Nov 9, 2021) | criteria provided, single submitter |