A: The variant NC_000021.9:g.44330349T>A in gene CFAP410 is classified as 'Pathogenic/Likely_pathogenic' for Axial_spondylometaphyseal_dysplasia. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011211,MedGen:C1865695,OMIM:602271,Orphanet:168549. Review status: criteria provided, multiple submitters, no conflicts.