A: The variant NC_000019.10:g.41342230G>A in gene TGFB1 is classified as 'Pathogenic' for See_cases|Diaphyseal_dysplasia|not_provided. 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|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.