A: The variant NC_000019.10:g.35546664_35546686delinsCT in gene TMEM147 is classified as 'Pathogenic' for pseudo-Pelger-Huet_anomaly. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001627: intron_variant. Variant type: Indel. Disease database links: .. Review status: criteria provided, single submitter.