| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy | |
| | | Single nucleotide variant (nonsense) | PLA2G6-associated neurodegeneration +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy | |
| | | Single nucleotide variant (missense variant) | PLA2G6-associated neurodegeneration +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
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