A: The variant NC_000023.11:g.2943196C>T in gene ARSL is classified as 'Uncertain_significance' for Chondrodysplasia_punctata,_brachytelephalangic,_autosomal. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011238,MedGen:C1844853,OMIM:602497. Review status: criteria provided, single submitter.