| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GP1BB, SEPT5-GP1BB (Y113F) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
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