A: The variant NC_000020.11:g.35434282C>T in gene GDF5 is classified as 'Pathogenic' for Acromesomelic_dysplasia_2B. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009231,MedGen:C1856738,OMIM:228900,Orphanet:2639. Review status: no assertion criteria provided.