| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GP1BB, SEPT5-GP1BB (E134K) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (E136*) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
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