A: The variant NC_000019.10:g.49812987_49813009del in gene FUZ is classified as 'Pathogenic/Likely_pathogenic' for Short-rib_thoracic_dysplasia_6_with_or_without_polydactyly. Molecular consequence: SO:0001575: splice_donor_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520. Review status: no assertion criteria provided.