A: The variant NC_000023.11:g.13750239A>G in gene OFD1 is classified as 'Pathogenic' for Retinitis_pigmentosa_23. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010320,MedGen:C1419610,OMIM:300424,Orphanet:791. Review status: no assertion criteria provided.