A: The variant NC_000021.9:g.44335798del in gene CFAP410 is classified as 'Pathogenic' for Axial_spondylometaphyseal_dysplasia. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0011211,MedGen:C1865695,OMIM:602271,Orphanet:168549. Review status: no assertion criteria provided.