A: The variant NC_000020.11:g.35434102C>A in gene GDF5 is classified as 'Pathogenic' for not_provided|Multiple_synostoses_syndrome_2|Symphalangism,_proximal,_1B. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0012394,MedGen:C1832708,OMIM:610017,Orphanet:3237|MONDO:MONDO:0014125,MedGen:C3809104,OMIM:615298,Orphanet:3250. Review status: criteria provided, single submitter.