A: The variant NC_000020.11:g.32230972_32230973del in gene POFUT1 is classified as 'Pathogenic' for Dowling-Degos_disease_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014130,MedGen:C3809147,OMIM:615327,Orphanet:79145. Review status: no assertion criteria provided.