A: The variant NC_000023.11:g.11294799G>C in gene AMELX is classified as 'Pathogenic' for Amelogenesis_imperfecta_type_1E. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010521,MedGen:C1845053,OMIM:301200,Orphanet:88661. Review status: no assertion criteria provided.