A: The variant NC_000020.11:g.62965153G>A in gene SLC17A9 is classified as 'Pathogenic' for Porokeratosis_8,_disseminated_superficial_actinic_type. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014479,MedGen:C4015128,OMIM:616063,Orphanet:79152. Review status: no assertion criteria provided.