| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more | |
| | | Single nucleotide variant (missense variant) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | |
| | | Deletion (inframe_deletion +1 more) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | |
| | | Single nucleotide variant (missense variant) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | |
| | HSALR1, PIEZO1 (Q1009L +1 more) | Single nucleotide variant (missense variant) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +1 more | |
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