A: The variant NC_000019.10:g.50476610del in gene GARIN5A is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0031011,MedGen:C5543268,OMIM:619264. Review status: no assertion criteria provided.