| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Bone fragility with contractures, arterial rupture, and deafness | |
| | | Single nucleotide variant (missense variant) | Bone fragility with contractures, arterial rupture, and deafness | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | Hemorrhage, intracerebral, susceptibility to | |
| | | Single nucleotide variant (missense variant) | Hemorrhage, intracerebral, susceptibility to | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Bone fragility with contractures, arterial rupture, and deafness | |
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