A: The variant NC_000019.10:g.56032687C>T in gene NLRP5 is classified as 'Uncertain_significance' for Toriello-Lacassie-Droste_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010854,MedGen:C1838329,OMIM:600268,Orphanet:3339. Review status: no assertion criteria provided.