A: The variant NC_000019.10:g.45179382G>T in gene BLOC1S3 is classified as 'Conflicting_classifications_of_pathogenicity' for Hermansky-Pudlak_syndrome_8|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013560,MedGen:C3888026,OMIM:614077,Orphanet:231537,Orphanet:79430|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, conflicting classifications.