| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hereditary pulmonary alveolar proteinosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis | |
| | | Single nucleotide variant (synonymous variant) | Hereditary pulmonary alveolar proteinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Interstitial lung disease due to ABCA3 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Interstitial lung disease due to ABCA3 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Interstitial lung disease due to ABCA3 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary pulmonary alveolar proteinosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Interstitial lung disease due to ABCA3 deficiency | |