A: The variant NC_000019.10:g.43733659G>A in gene SMG9 is classified as 'Pathogenic' for Heart_and_brain_malformation_syndrome|Neurodevelopmental_abnormality. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014833,MedGen:C4310793,OMIM:616920|Human_Phenotype_Ontology:HP:0012759,MedGen:C4022737. Review status: no assertion criteria provided.