A: The variant NC_000019.10:g.35545802C>G in gene TMEM147 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_facial_dysmorphism,_absent_language,_and_pseudo-pelger-huet_anomaly. Molecular consequence: SO:0001587: nonsense,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0859298,MedGen:C5774232,OMIM:620075. Review status: criteria provided, single submitter.