A: The variant NC_000019.10:g.41342218G>C in gene TGFB1 is classified as 'not_provided' for Diaphyseal_dysplasia. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300,Orphanet:1328. Review status: no classification provided.