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Table 1 Phenotypes associated with various HPS1 gene variants according to the Human Gene Mutation Database [6]

From: Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

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