| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Colorectal cancer | |
| | | Single nucleotide variant (missense variant) | Gaze palsy, familial horizontal, with progressive scoliosis, 2 +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Mirror movements 1 | |
| | | Single nucleotide variant (missense variant) | Mirror movements 1 | |
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