A: The variant NC_000020.11:g.35434093A>G in gene GDF5 is classified as 'Pathogenic' for Type_A2_brachydactyly|Symphalangism,_proximal,_1B|Acromesomelic_dysplasia_2B|not_provided. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MONDO:MONDO:0014125,MedGen:C3809104,OMIM:615298,Orphanet:3250|MONDO:MONDO:0009231,MedGen:C1856738,OMIM:228900,Orphanet:2639|MedGen:C3661900. Review status: criteria provided, single submitter.