A: The variant NC_000022.11:g.29489019A>G in gene NEFH is classified as 'Uncertain_significance' for not_specified|Inborn_genetic_diseases|NEFH-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.. Review status: criteria provided, multiple submitters, no conflicts.