A: The variant NC_000020.11:g.3229017_3229027delinsCCGGCCGGCC in gene SLC4A11 is classified as 'Pathogenic' for Congenital_hereditary_endothelial_dystrophy_of_cornea. Molecular consequence: SO:0001627: intron_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603. Review status: no assertion criteria provided.