A: The variant NC_000019.10:g.17341078G>C in gene GTPBP3 is classified as 'Pathogenic' for Combined_oxidative_phosphorylation_defect_type_23. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014525,MedGen:C5567743,OMIM:616198,Orphanet:444013. Review status: no assertion criteria provided.