| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GP1BB, SEPT5-GP1BB (P130L) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome +2 more | GConflicting classifications of pathogenicity |
| | GP1BB, SEPT5-GP1BB (L146F) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome +1 more | |
Click to view in NCBI Gene