A: The variant NC_000020.11:g.44311145C>A in gene FITM2 is classified as 'Pathogenic' for Siddiqi_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032842,MedGen:C5231435,OMIM:618635. Review status: no assertion criteria provided.