A: The variant NC_000022.11:g.38145550_38145551del in gene PLA2G6 is classified as 'Pathogenic' for Infantile_neuroaxonal_dystrophy. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069. Review status: criteria provided, single submitter.