A: The variant NC_000019.10:g.45181810T>C in gene BLOC1S3 is classified as 'Likely_benign' for Hermansky-Pudlak_syndrome|not_provided. Molecular consequence: SO:0002152: genic_downstream_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.