| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GP1BB, SEPT5-GP1BB (G106fs) | Deletion (non-coding transcript variant +1 more) | not provided | |
| | GP1BB, SEPT5-GP1BB (D115H) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
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