| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Pulmonary Surfactant Metabolism Dysfunction, Recessive +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Pulmonary Surfactant Metabolism Dysfunction, Recessive | |
| | | Deletion (intron variant) | Pulmonary Surfactant Metabolism Dysfunction, Recessive | |
| | | Single nucleotide variant (missense variant) | Pulmonary Surfactant Metabolism Dysfunction, Recessive | |
Click to view in NCBI Gene