| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Harel-Yoon syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | |
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