A: The variant NC_000019.10:g.45179397C>A in gene BLOC1S3 is classified as 'Pathogenic' for Hermansky-Pudlak_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430. Review status: criteria provided, single submitter.