A: The variant NC_000022.11:g.50465084T>C in gene SBF1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Microcephaly|Charcot-Marie-Tooth_disease_type_4B3. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981. Review status: criteria provided, multiple submitters, no conflicts.