| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hermansky-Pudlak syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autoinflammatory syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autoinflammatory syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
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