A: The variant NC_000020.11:g.45894002T>C in gene CTSA is classified as 'Pathogenic' for Galactosialidosis,_early_infantile. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C4017294. Review status: no assertion criteria provided.