A: The variant NC_000019.10:g.41353007AGC[6] in gene TGFB1 is classified as 'Uncertain_significance' for Diaphyseal_dysplasia|not_provided. Molecular consequence: SO:0001821: inframe_insertion. Variant type: Microsatellite. Disease database links: Human_Phenotype_Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:131300,Orphanet:1328|MedGen:C3661900. Review status: criteria provided, single submitter.