A: The variant NC_000022.11:g.26479265dup in gene HPS4 is classified as 'Likely_pathogenic' for Hermansky-Pudlak_syndrome_4. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430. Review status: criteria provided, single submitter.