Case#: Patient 1

DiseaseAssertion: Pompe Disease

FamilyInfo: None given

CasePresentingHPOs: None

CaseHPOFreeText: None

CaseNotHPOs: None

CaseNotHPOFreeText: None

CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

Glucosidase activity: 0.0 nmol 5MU/hr/mL

Variant 1: NM_000152.5:c.2065G>A

Variant 1 ClinVarID: 4030

Variant 1 CAid: CA116612

Variant 2: NM_000152.5:c.1726G>A

Variant 2 ClinVarID: 92467

Variant 2 CAid: CA145760

Variant 2: NM_000152.5:c.596A>G

Variant 3 ClinVarID: 92486

Variant 3 CAid: CA145785

Variant 2: NM_000152.5:c.668G>A

Variant 4 ClinVarID: 92488

Variant 4 CAid: CA145791

ParentalGenotype: Not provided