| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | Cataract 15 multiple types +3 more | |
| | | Duplication | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +2 more | |
| | | Duplication | Familial melanoma | |
| | | Duplication | not provided | |
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