A: The variant NC_000019.10:g.49908636T>G in gene NUP62 is classified as 'Pathogenic' for Infantile_bilateral_striatal_necrosis. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015518,MedGen:C0795996,Orphanet:1576. Review status: no assertion criteria provided.