| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ARHGAP9, LOC130008135 (P70T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Cataract 15 multiple types +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | ARHGAP9, LOC130008135 (G71D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | Familial melanoma | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Microsatellite (intron variant) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Microsatellite (intron variant) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease axonal type 2U +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Deletion (nonsense +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2U +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more | |
| | SLC15A5, SLC16A7 +1006 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | AGAP2, AGAP2-AS1 +162 more | Copy number loss | See cases | |
| | AGAP2, AGAP2-AS1 +199 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Coronary artery spasm 3, susceptibility to | |