Case2: Female, 68 years report

HPOsFreeText: 5 years of ERT completed, 6 Minute Walking Test at 275 meters, Forced Vital Capacity at 116%

GenotypingMethod: GAA Gene Sequencing

Variant1: NM_000152.4:c.-32-13T>G

ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

Variant2: NM_000152.4:c.1629C>G (p.Tyr543Ter)

CAID: CA401367368 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1629C%3EG

gnomAD: Not in gnomAD

CaseAddInfo: Late Onset Pompe Disease