A: The variant NC_000021.9:g.46243645G>A in gene MCM3AP is classified as 'Uncertain_significance' for Congenital_fibrosis_of_extraocular_muscles. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001491,MONDO:MONDO:0007614,MedGen:C1302995,OMIM:PS135700,Orphanet:45358. Review status: criteria provided, single submitter.