A: The variant NC_000019.10:g.48991439_48991440del in gene GYS1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625. Review status: criteria provided, multiple submitters, no conflicts.