A: The variant NC_000022.11:g.50083183A>T in gene MLC1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Cerebellar_ataxia|CNS_demyelination|Macrocephaly|Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0007222,Human_Phenotype_Ontology:HP:0007305,MedGen:C0338474|Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004,Orphanet:2478. Review status: criteria provided, multiple submitters, no conflicts.