A: The variant NC_000019.10:g.50907078AG[1] in gene KLK4 is classified as 'Likely_pathogenic' for Amelogenesis_imperfecta_type_2A1. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0008772,MedGen:C2673922,OMIM:204700,Orphanet:88661. Review status: criteria provided, single submitter.