A: The variant NC_000019.10:g.49828983C>T in gene MED25 is classified as 'Pathogenic/Likely_pathogenic' for Charcot-Marie-Tooth_disease_type_2|not_provided|Congenital_cataract-microcephaly-nevus_flammeus_simplex-severe_intellectual_disability_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:C3661900|MONDO:MONDO:0014643,MedGen:C4225323,OMIM:616449,Orphanet:464738. Review status: criteria provided, multiple submitters, no conflicts.