A: The variant NC_000019.10:g.46756618_46756627dup in gene FKRP is classified as 'Likely_pathogenic' for Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899. Review status: criteria provided, single submitter.