Variant type | Total number of described variants | Reported phenotype |
---|---|---|
Missense/nonsense | 22 | Hermansky-Pudlak syndrome; albinism; nystagmus; hypopigmentation; foveal hypoplasia; absent nails |
Splicing substitutions | 8 | Hermansky-Pudlak syndrome |
Small deletions | 17 | Hermansky-Pudlak syndrome |
Small insertions/duplications | 7 | Hermansky-Pudlak syndrome |
Small indels | 1 | Hermansky-Pudlak syndrome |
Gross deletions | 5 | Hermansky-Pudlak syndrome |
Complete rearrangements | 1 | Hermansky-Pudlak syndrome |