A: The variant NC_000020.11:g.9409106G>T in gene PLCB4 is classified as 'Pathogenic' for Ocular_melanocytosis|Uveal_melanoma. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0025534,MedGen:C0025210|Human_Phenotype_Ontology:HP:0007716,MONDO:MONDO:0006486,MeSH:C536494,MedGen:C0220633,OMIM:155720,Orphanet:39044. Review status: criteria provided, single submitter.