question: Evaluate the clinical significance of the mutation at chromosome 9, position 35658020 in gene RMRP (RNA component of mitochondrial RNA processing endoribonuclease): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
answer: pathogenic; ['Anauxetic_dysplasia', 'Anauxetic_dysplasia_1', 'Metaphyseal_chondrodysplasia,_McKusick_type', 'Metaphyseal_dysplasia_without_hypotrichosis']