A: The variant NC_000019.10:g.45179383dup in gene BLOC1S3 is classified as 'Uncertain_significance' for Hermansky-Pudlak_syndrome_8. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013560,MedGen:C3888026,OMIM:614077,Orphanet:231537,Orphanet:79430. Review status: criteria provided, single submitter.