A: The variant NC_000020.11:g.2654830G>C in gene NOP56 is classified as 'Uncertain_significance' for Mild_global_developmental_delay|Cerebellar_ataxia. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0011342,MedGen:C4012968|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002. Review status: criteria provided, single submitter.