A: The variant NC_000022.11:g.41813315G>A in gene CCDC134 is classified as 'Uncertain_significance' for Osteogenesis_imperfecta,_IIA_22. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030714,MedGen:C5676943,OMIM:619795. Review status: criteria provided, single submitter.