A: The variant NC_000019.10:g.45179787G>A in gene BLOC1S3 is classified as 'Benign/Likely_benign' for BLOC1S3-related_disorder|not_specified|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:CN169374|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.