A: The variant NC_000021.9:g.44339116A>G in gene CFAP410 is classified as 'Likely_pathogenic' for Axial_spondylometaphyseal_dysplasia. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011211,MedGen:C1865695,OMIM:602271,Orphanet:168549. Review status: criteria provided, single submitter.