A: The variant NC_000020.11:g.419666del in gene RBCK1 is classified as 'Pathogenic' for Polyglucosan_body_myopathy_1_with_immunodeficiency. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MedGen:C4017231. Review status: no assertion criteria provided.