A: The variant NC_000020.11:g.44311148T>A in gene FITM2 is classified as 'Likely_pathogenic' for Siddiqi_syndrome. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032842,MedGen:C5231435,OMIM:618635. Review status: criteria provided, single submitter.