| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HSALR1, PIEZO1 (Y460* +1 more) | Single nucleotide variant (nonsense) | Lymphatic malformation 6 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | |
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