A: The variant NC_000019.10:g.50479028C>T in gene EMC10 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264. Review status: no assertion criteria provided.