A: The variant NC_000019.10:g.45179740_45179763del in gene BLOC1S3 is classified as 'Pathogenic' for Hermansky-Pudlak_syndrome_8. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MONDO:MONDO:0013560,MedGen:C3888026,OMIM:614077,Orphanet:231537,Orphanet:79430. Review status: no assertion criteria provided.