A: The variant NC_000022.11:g.38112255GT[1] in gene PLA2G6 is classified as 'Pathogenic' for Infantile_neuroaxonal_dystrophy|Iron_accumulation_in_brain. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069|Human_Phenotype_Ontology:HP:0012675,MedGen:C4021076. Review status: criteria provided, multiple submitters, no conflicts.