A: The variant NC_000019.10:g.50476545A>G in gene GARIN5A is classified as 'Uncertain_significance' for Neurodevelopmental_disorder_with_dysmorphic_facies_and_variable_seizures. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant,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.