| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hermansky-Pudlak syndrome 3 +1 more | |
| | | Deletion (frameshift variant) | Hermansky-Pudlak syndrome 3 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hermansky-Pudlak syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Hermansky-Pudlak syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of ferroxidase +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of ferroxidase +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of ferroxidase +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of ferroxidase | |
| | | Single nucleotide variant (missense variant) | Deficiency of ferroxidase | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of ferroxidase +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of ferroxidase | |
| | | Deletion | Deficiency of ferroxidase +1 more | |