A: The variant NC_000020.11:g.417889dup in gene RBCK1 is classified as 'Likely_pathogenic' for Polyglucosanbody_Myopathy_Typ_1. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Duplication. Disease database links: .. Review status: no assertion criteria provided.