| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | HPS6-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Storage pool disease of platelets | |
| | | Single nucleotide variant (nonsense) | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | |
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