A: The variant NC_000020.11:g.35434297A>C in gene GDF5 is classified as 'Pathogenic' for Symphalangism,_proximal,_1B. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014125,MedGen:C3809104,OMIM:615298,Orphanet:3250. Review status: no assertion criteria provided.