question: A genetic variant on chromosome 12, position 120291839, affects the gene SIRT4. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
answer: pathogenic; ['Neurodevelopmental_disorder_with_hypotonia,_brain_anomalies,_distinctive_facies,_and_absent_language', 'RNU4-2-associated_neurodevelopmental_disorder', 'RNU4-2-related_condition']