A: The variant NC_000023.11:g.2934859C>T in gene ARSL is classified as 'Pathogenic/Likely_pathogenic' for X-linked_chondrodysplasia_punctata_1|Chondrodysplasia_punctata,_brachytelephalangic,_autosomal|See_cases|Inborn_genetic_diseases|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010555,MedGen:C3669395,OMIM:302950,Orphanet:79345|MONDO:MONDO:0011238,MedGen:C1844853,OMIM:602497|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.