| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Arthrogryposis, Perthes disease, and upward gaze palsy | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, Perthes disease, and upward gaze palsy | |
| | | Copy number loss | not provided | |
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