A: The variant NC_000020.11:g.10647093G>C in gene JAG1 is classified as 'Pathogenic' for Charcot-Marie-Tooth_disease,_axonal,_Type_2HH. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030458,MedGen:C5562003,OMIM:619574. Review status: criteria provided, single submitter.