A: The variant NC_000019.10:g.50476614C>T in gene GARIN5A is classified as 'Likely_pathogenic' for EMC10-related_disorder|Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures. Molecular consequence: SO:0001587: nonsense,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: .|MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264. Review status: criteria provided, single submitter.