| - GRCh37:
- Chr21:46330226
- GRCh38:
- Chr21:44910311
| ITGB2 | G42fs | Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 3 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309171-46310157
| ITGB2 | | Leukocyte adhesion deficiency 1 | Pathogenic
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311888
- GRCh38:
- Chr21:44891973
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330254
- GRCh38:
- Chr21:44910339
| ITGB2 | S31N | Inborn genetic diseases, Leukocyte adhesion deficiency 1 | Conflicting interpretations of pathogenicity
(Mar 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr21:46309902
- GRCh38:
- Chr21:44889987
| ITGB2 | G481S, G550S | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jul 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306316
- GRCh38:
- Chr21:44886401
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309899
- GRCh38:
- Chr21:44889984
| ITGB2 | G482S, G551S | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309942
- GRCh38:
- Chr21:44890027
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309278
- GRCh38:
- Chr21:44889363
| ITGB2 | R597H, R528H | Leukocyte adhesion deficiency 1 | Uncertain significance
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309931
- GRCh38:
- Chr21:44890016
| ITGB2 | N540S, N471S | Leukocyte adhesion deficiency 1 | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330303
- GRCh38:
- Chr21:44910388
| ITGB2 | | Leukocyte adhesion deficiency 1 | Benign
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306708
- GRCh38:
- Chr21:44886793
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46310116
- GRCh38:
- Chr21:44890201
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306700
- GRCh38:
- Chr21:44886785
| ITGB2 | R733Q, R664Q | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309402
- GRCh38:
- Chr21:44889487
| ITGB2 | L487F, L556F | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311855
- GRCh38:
- Chr21:44891940
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309253
- GRCh38:
- Chr21:44889338
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46320406
- GRCh38:
- Chr21:44900491
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46320352
- GRCh38:
- Chr21:44900437
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311821
- GRCh38:
- Chr21:44891906
| ITGB2 | V370M, V439M | Leukocyte adhesion deficiency 1 | Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46308659
- GRCh38:
- Chr21:44888744
| ITGB2 | E677K, E608K | Leukocyte adhesion deficiency 1 | Uncertain significance
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46313412-46313413
- GRCh38:
- Chr21:44893497-44893498
| ITGB2 | T377I, T308I | Leukocyte adhesion deficiency 1 | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311744
- GRCh38:
- Chr21:44891829
| ITGB2 | F395L, F464L | Leukocyte adhesion deficiency 1 | Uncertain significance
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46321392
- GRCh38:
- Chr21:44901477
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306308
- GRCh38:
- Chr21:44886393
| ITGB2 | M762R, M693R | Leukocyte adhesion deficiency 1 | Uncertain significance
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46308776
- GRCh38:
- Chr21:44888861
| ITGB2 | P569S, P638S | Leukocyte adhesion deficiency 1 | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46327007
- GRCh38:
- Chr21:44907092
| ITGB2 | F51I | Leukocyte adhesion deficiency 1 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311711
- GRCh38:
- Chr21:44891796
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46308820
- GRCh38:
- Chr21:44888905
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309270
- GRCh38:
- Chr21:44889355
| ITGB2 | V531I, V600I | Leukocyte adhesion deficiency 1 | Uncertain significance
(Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46323424
- GRCh38:
- Chr21:44903509
| ITGB2 | F119V, F50V | Leukocyte adhesion deficiency 1 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46321394
- GRCh38:
- Chr21:44901479
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311846
- GRCh38:
- Chr21:44891931
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330647
- GRCh38:
- Chr21:44910732
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311769
- GRCh38:
- Chr21:44891854
| ITGB2 | R456H, R387H | Leukocyte adhesion deficiency 1 | Uncertain significance
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46313384
- GRCh38:
- Chr21:44893469
| ITGB2 | S387R, S318R | Leukocyte adhesion deficiency 1, Inborn genetic diseases | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46326965
- GRCh38:
- Chr21:44907050
| ITGB2 | R65W | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309880
- GRCh38:
- Chr21:44889965
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330297
- GRCh38:
- Chr21:44910382
| ITGB2 | | Leukocyte adhesion deficiency 1 | Pathogenic
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309980
- GRCh38:
- Chr21:44890065
| ITGB2 | V455F, V524F | Leukocyte adhesion deficiency 1 | Uncertain significance
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311897
- GRCh38:
- Chr21:44891982
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46310154
- GRCh38:
- Chr21:44890239
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330671
- GRCh38:
- Chr21:44910756
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330683
- GRCh38:
- Chr21:44910768
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46314943
- GRCh38:
- Chr21:44895028
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46319001
- GRCh38:
- Chr21:44899086
| ITGB2 | R256K, R325K | Leukocyte adhesion deficiency 1 | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46313465
- GRCh38:
- Chr21:44893550
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46323285
- GRCh38:
- Chr21:44903370
| ITGB2 | R96H, R165H | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46308705
- GRCh38:
- Chr21:44888790
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326972
- GRCh38:
- Chr21:44907057
| ITGB2 | C62* | Leukocyte adhesion deficiency 1 | Pathogenic
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330222
- GRCh38:
- Chr21:44910307
| ITGB2 | G42S | Leukocyte adhesion deficiency 1 | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306795
- GRCh38:
- Chr21:44886880
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46310043
- GRCh38:
- Chr21:44890128
| ITGB2 | S503P, S434P | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46308600
- GRCh38:
- Chr21:44888685
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46320375
- GRCh38:
- Chr21:44900460
| ITGB2 | R253C, R184C | Inborn genetic diseases, Leukocyte adhesion deficiency 1 | Uncertain significance
(Jun 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46330209
- GRCh38:
- Chr21:44910294
| ITGB2 | C46F | Leukocyte adhesion deficiency 1 | Uncertain significance
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309430
- GRCh38:
- Chr21:44889515
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46323455
- GRCh38:
- Chr21:44903540
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326940
- GRCh38:
- Chr21:44907025
| ITGB2 | C73Y, C4Y | Leukocyte adhesion deficiency 1 | Uncertain significance
(Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46320364-46320553
- GRCh38:
- Chr21:44900449-44900638
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely pathogenic
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46327018
- GRCh38:
- Chr21:44907103
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311915
- GRCh38:
- Chr21:44892000
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326955
- GRCh38:
- Chr21:44907040
| ITGB2 | L68R | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46319077
- GRCh38:
- Chr21:44899162
| ITGB2 | D231N, D300N | Leukocyte adhesion deficiency 1 | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326919
- GRCh38:
- Chr21:44907004
| ITGB2 | D11fs, D80fs | Leukocyte adhesion deficiency 1 | Pathogenic
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306810
- GRCh38:
- Chr21:44886895
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46330188
- GRCh38:
- Chr21:44910273
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46323263
- GRCh38:
- Chr21:44903348
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306360
- GRCh38:
- Chr21:44886445
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46310073
- GRCh38:
- Chr21:44890158
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46308693
- GRCh38:
- Chr21:44888778
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46313363-46313375
- GRCh38:
- Chr21:44893448-44893460
| ITGB2 | V321fs, V390fs | Leukocyte adhesion deficiency 1 | Pathogenic
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46321418
- GRCh38:
- Chr21:44901503
| ITGB2 | A175T, A244T | Inborn genetic diseases, Leukocyte adhesion deficiency 1 | Uncertain significance
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:46327002
- GRCh38:
- Chr21:44907087
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326960
- GRCh38:
- Chr21:44907045
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326910
- GRCh38:
- Chr21:44906995
| ITGB2 | S14N, S83N | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311817
- GRCh38:
- Chr21:44891902
| ITGB2 | Q440R, Q371R | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46308674
- GRCh38:
- Chr21:44888759
| ITGB2 | V603L, V672L | Leukocyte adhesion deficiency 1 | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311914
- GRCh38:
- Chr21:44891999
| ITGB2 | | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326863
- GRCh38:
- Chr21:44906948
| ITGB2 | S30fs, S99fs | Leukocyte adhesion deficiency 1 | Pathogenic
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46320364
- GRCh38:
- Chr21:44900449
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309922
- GRCh38:
- Chr21:44890007
| ITGB2 | R474H, R543H | Leukocyte adhesion deficiency 1 | Uncertain significance
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46310092
- GRCh38:
- Chr21:44890177
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46310151
- GRCh38:
- Chr21:44890236
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46326983
- GRCh38:
- Chr21:44907068
| ITGB2 | S59T | Leukocyte adhesion deficiency 1 | Uncertain significance
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46313367
- GRCh38:
- Chr21:44893452
| ITGB2 | H323Q, H392Q | Leukocyte adhesion deficiency 1 | Uncertain significance
(Apr 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46314874
- GRCh38:
- Chr21:44894959
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306808
- GRCh38:
- Chr21:44886893
| ITGB2 | A628V, A697V | Leukocyte adhesion deficiency 1 | Uncertain significance
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46319026
- GRCh38:
- Chr21:44899111
| ITGB2 | Q248*, Q317* | Leukocyte adhesion deficiency 1 | Pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306291
- GRCh38:
- Chr21:44886376
| ITGB2 | E768Q, E699Q | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46318964
- GRCh38:
- Chr21:44899049
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46313341
- GRCh38:
- Chr21:44893426
| ITGB2 | D332G, D401G | Leukocyte adhesion deficiency 1 | Uncertain significance
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46306365
- GRCh38:
- Chr21:44886450
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46323426
- GRCh38:
- Chr21:44903511
| ITGB2 | T118I, T49I | Leukocyte adhesion deficiency 1 | Uncertain significance
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46311817
- GRCh38:
- Chr21:44891902
| ITGB2 | Q371P, Q440P | Leukocyte adhesion deficiency 1 | Uncertain significance
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46314866
- GRCh38:
- Chr21:44894951
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309430
- GRCh38:
- Chr21:44889515
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46323358
- GRCh38:
- Chr21:44903443
| ITGB2 | D72H, D141H | Leukocyte adhesion deficiency 1 | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46309219
- GRCh38:
- Chr21:44889304
| ITGB2 | G617S, G548S | Leukocyte adhesion deficiency 1 | Uncertain significance
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr21:46321602
- GRCh38:
- Chr21:44901687
| ITGB2 | | Leukocyte adhesion deficiency 1 | Likely benign
(Jun 22, 2022) | criteria provided, single submitter |