| - GRCh37:
- Chr10:81373604
- GRCh38:
- Chr10:79613848
| SFTPA1 | R161H, R176H, R112H, R127H | Inborn genetic diseases, Interstitial lung disease 1 | Conflicting interpretations of pathogenicity
(Apr 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:81373755
- GRCh38:
- Chr10:79613999
| SFTPA1 | W162C, W177C, W211C, W226C | Interstitial lung disease 1 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:81373744
- GRCh38:
- Chr10:79613988
| SFTPA1 | Y208H, Y159H, Y174H, Y223H | Interstitial lung disease 1 | Pathogenic
(Nov 19, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373654
- GRCh38:
- Chr10:79613898
| SFTPA1 | V178M, V129M, V144M, V193M | Interstitial lung disease 1 | Pathogenic
(Nov 19, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373795
- GRCh38:
- Chr10:79614039
| SFTPA1 | V225M, V176M, V191M, V240M | Interstitial lung disease 1 | Pathogenic
(Nov 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373753
- GRCh38:
- Chr10:79613997
| SFTPA1 | W211R, W162R, W177R, W226R | Interstitial lung disease 1 | Pathogenic
(Nov 18, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr10:81373846
- GRCh38:
- Chr10:79614090
| SFTPA1 | R242*, R257*, R193*, R208* | Respiratory distress associated with prematurity, Interstitial lung disease 1, not specified
| Uncertain significance
(Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |