A: The variant NC_000019.10:g.45179745A>G in gene BLOC1S3 is classified as 'Uncertain_significance' for not_specified|Hermansky-Pudlak_syndrome_8|not_provided|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374|MONDO:MONDO:0013560,MedGen:C3888026,OMIM:614077,Orphanet:231537,Orphanet:79430|MedGen:C3661900|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.