A: The variant NC_000021.9:g.44711477del in gene TSPEAR is classified as 'Pathogenic/Likely_pathogenic' for TSPEAR-related_disorder|not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: .|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.