| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of the nervous system +16 more | GConflicting classifications of pathogenicity |
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