Case#: Patient 8

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: 0.05 nmol 5MU/hr/mL

Variant 1: NM_000152.5:c.596A>G

Variant 1 ClinVarID: 92486

Variant 1 CAid: CA145785

Variant 2: NM_000152.5:c.472A>G

Variant 2 ClinVarID:

Variant 2 CAid: CA401361595

Variant 3: NM_000152.5:c.668G>A

Variant 3 ClinVarID: 92488

Variant 3 CAid: CA145791

Variant 4: NM_000152.5:c.503G>T

Variant 4 ClinVarID:

Variant 4 CAid: CA8814883

ParentalGenotype: Not provided