A: The variant NC_000020.11:g.3230587C>T in gene SLC4A11 is classified as 'Pathogenic' for Congenital_hereditary_endothelial_dystrophy_of_cornea. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603. Review status: no assertion criteria provided.