A: The variant NC_000023.11:g.2949646T>C in gene ARSL is classified as 'Uncertain_significance' for Inborn_genetic_diseases|Chondrodysplasia_punctata,_brachytelephalangic,_autosomal|X-linked_chondrodysplasia_punctata_1|Connective_tissue_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011238,MedGen:C1844853,OMIM:602497|MONDO:MONDO:0010555,MedGen:C3669395,OMIM:302950,Orphanet:79345|MONDO:MONDO:0003900,MedGen:C0009782. Review status: criteria provided, multiple submitters, no conflicts.