| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 6 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | HSALR1, PIEZO1 (Y460* +1 more) | Single nucleotide variant (nonsense) | Lymphatic malformation 6 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 6 | |
Click to view in NCBI Gene