| - GRCh37:
- Chr14:94847199
- GRCh38:
- Chr14:94380862
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845816
- GRCh38:
- Chr14:94379479
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849002
- GRCh38:
- Chr14:94382665
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845870
- GRCh38:
- Chr14:94379533
| SERPINA1 | | Inborn genetic diseases, Alpha-1-antitrypsin deficiency | Likely benign
(Feb 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:94849329
- GRCh38:
- Chr14:94382992
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847272
- GRCh38:
- Chr14:94380935
| SERPINA1 | Q285* | Alpha-1-antitrypsin deficiency | Pathogenic
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849092
- GRCh38:
- Chr14:94382755
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849493
- GRCh38:
- Chr14:94383156
| SERPINA1 | Q28fs | Alpha-1-antitrypsin deficiency | Pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847213
- GRCh38:
- Chr14:94380876
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849413
- GRCh38:
- Chr14:94383076
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94854896
- GRCh38:
- Chr14:94388559
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847306
- GRCh38:
- Chr14:94380969
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845843
- GRCh38:
- Chr14:94379506
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849014
- GRCh38:
- Chr14:94382677
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844951
- GRCh38:
- Chr14:94378614
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847269
- GRCh38:
- Chr14:94380932
| SERPINA1 | H286Y | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847278
- GRCh38:
- Chr14:94380941
| SERPINA1 | K283* | Alpha-1-antitrypsin deficiency | Pathogenic
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849140
- GRCh38:
- Chr14:94382803
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847234
- GRCh38:
- Chr14:94380897
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Dec 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849020
- GRCh38:
- Chr14:94382683
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847228
- GRCh38:
- Chr14:94380891
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849506
- GRCh38:
- Chr14:94383169
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849172
- GRCh38:
- Chr14:94382835
| SERPINA1 | Q135* | Alpha-1-antitrypsin deficiency | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844946
- GRCh38:
- Chr14:94378609
| SERPINA1 | E366G | Alpha-1-antitrypsin deficiency | Likely pathogenic
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849338
- GRCh38:
- Chr14:94383001
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849521
- GRCh38:
- Chr14:94383184
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847482
- GRCh38:
- Chr14:94381145
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844966
- GRCh38:
- Chr14:94378629
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94848975
- GRCh38:
- Chr14:94382638
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849452
- GRCh38:
- Chr14:94383115
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849164
- GRCh38:
- Chr14:94382827
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849467
- GRCh38:
- Chr14:94383130
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845836
- GRCh38:
- Chr14:94379499
| SERPINA1 | G344R | Alpha-1-antitrypsin deficiency, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Apr 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:94847452
- GRCh38:
- Chr14:94381115
| SERPINA1 | K225* | Alpha-1-antitrypsin deficiency | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847408
- GRCh38:
- Chr14:94381071
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849254
- GRCh38:
- Chr14:94382917
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Nov 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847477
- GRCh38:
- Chr14:94381140
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844921
- GRCh38:
- Chr14:94378584
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849374
- GRCh38:
- Chr14:94383037
| SERPINA1 | H67Q | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94848948
- GRCh38:
- Chr14:94382611
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Dec 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847330
- GRCh38:
- Chr14:94380993
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845932
- GRCh38:
- Chr14:94379595
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849203
- GRCh38:
- Chr14:94382866
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849011
- GRCh38:
- Chr14:94382674
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Dec 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847387
- GRCh38:
- Chr14:94381050
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849509
- GRCh38:
- Chr14:94383172
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Dec 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847488
- GRCh38:
- Chr14:94381151
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845794
- GRCh38:
- Chr14:94379457
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849098
- GRCh38:
- Chr14:94382761
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847297
- GRCh38:
- Chr14:94380960
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844960
- GRCh38:
- Chr14:94378623
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849257
- GRCh38:
- Chr14:94382920
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849182
- GRCh38:
- Chr14:94382845
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847320
- GRCh38:
- Chr14:94380983
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849437
- GRCh38:
- Chr14:94383100
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845867
- GRCh38:
- Chr14:94379530
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847487
- GRCh38:
- Chr14:94381150
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849476
- GRCh38:
- Chr14:94383139
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Feb 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94848996
- GRCh38:
- Chr14:94382659
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844947
- GRCh38:
- Chr14:94378610
| SERPINA1 | E366Q | Alpha-1-antitrypsin deficiency | Likely pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847338
- GRCh38:
- Chr14:94381001
| SERPINA1 | V263fs | Alpha-1-antitrypsin deficiency | Pathogenic
(Oct 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847198-94854896
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Pathogenic
(Sep 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845814
- GRCh38:
- Chr14:94379477
| SERPINA1 | L351fs | Alpha-1-antitrypsin deficiency | Pathogenic
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94843455-94847488
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94843455-94854896
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Pathogenic
(May 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849462
- GRCh38:
- Chr14:94383125
| SERPINA1 | S38F | Alpha-1-antitrypsin deficiency, not provided | Uncertain significance
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:94845837
- GRCh38:
- Chr14:94379500
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Benign
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849440
- GRCh38:
- Chr14:94383103
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845891
- GRCh38:
- Chr14:94379554
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847383
- GRCh38:
- Chr14:94381046
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Feb 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849206
- GRCh38:
- Chr14:94382869
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849431
- GRCh38:
- Chr14:94383094
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847402
- GRCh38:
- Chr14:94381065
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844891
- GRCh38:
- Chr14:94378554
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847226
- GRCh38:
- Chr14:94380889
| SERPINA1 | L300P | Alpha-1-antitrypsin deficiency | Likely benign
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844864
- GRCh38:
- Chr14:94378527
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847246
- GRCh38:
- Chr14:94380909
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844867
- GRCh38:
- Chr14:94378530
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847411
- GRCh38:
- Chr14:94381074
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Feb 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844818
- GRCh38:
- Chr14:94378481
| SERPINA1 | M409V | Alpha-1-antitrypsin deficiency | Likely benign
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847444
- GRCh38:
- Chr14:94381107
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847444
- GRCh38:
- Chr14:94381107
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849179
- GRCh38:
- Chr14:94382842
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jul 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849105
- GRCh38:
- Chr14:94382768
| SERPINA1 | D157G | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844795
- GRCh38:
- Chr14:94378458
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Nov 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847462
- GRCh38:
- Chr14:94381125
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849521
- GRCh38:
- Chr14:94383184
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Apr 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94845954
- GRCh38:
- Chr14:94379617
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849419
- GRCh38:
- Chr14:94383082
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849344
- GRCh38:
- Chr14:94383007
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94847264
- GRCh38:
- Chr14:94380927
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Oct 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844822
- GRCh38:
- Chr14:94378485
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Mar 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849161
- GRCh38:
- Chr14:94382824
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849122
- GRCh38:
- Chr14:94382785
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jun 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844951
- GRCh38:
- Chr14:94378614
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849557
- GRCh38:
- Chr14:94383220
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94849149
- GRCh38:
- Chr14:94382812
| SERPINA1 | | Alpha-1-antitrypsin deficiency | Likely benign
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844929-94844930
- GRCh38:
- Chr14:94378592-94378593
| SERPINA1 | A372fs | Alpha-1-antitrypsin deficiency | Pathogenic
(Nov 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94848967-94848968
- GRCh38:
- Chr14:94382630-94382631
| SERPINA1 | D203fs | Alpha-1-antitrypsin deficiency | Pathogenic
(Oct 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr14:94844865
- GRCh38:
- Chr14:94378528
| SERPINA1 | P393R | Alpha-1-antitrypsin deficiency | Likely pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |