A: The variant NC_000021.9:g.44331842C>T in gene CFAP410 is classified as 'Pathogenic' for not_provided|Axial_spondylometaphyseal_dysplasia. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0011211,MedGen:C1865695,OMIM:602271,Orphanet:168549. Review status: criteria provided, single submitter.