A: The variant NC_000022.11:g.17188380del in gene ADA2 is classified as 'Pathogenic' for Sneddon_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0008436,MedGen:C0282492,OMIM:182410,Orphanet:820. Review status: criteria provided, single submitter.