A: The variant NC_000020.11:g.38011514C>A in gene TTI1 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_microcephaly_and_movement_abnormalities. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957531,MedGen:C5830624,OMIM:620445. Review status: no assertion criteria provided.