The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
CA658795235
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 1b742d4e-033e-469e-b02a-e368ad095141
Approved on: 2020-01-21
Published on: 2020-05-26
HGVS expressions
NM_000152.5:c.722_723del
NC_000017.11:g.80107586_80107587del
CM000679.2:g.80107586_80107587del
NC_000017.10:g.78081385_78081386del
CM000679.1:g.78081385_78081386del
NC_000017.9:g.75695980_75695981del
NG_009822.1:g.11031_11032del
NM_000152.3:c.722_723del
NM_001079803.1:c.722_723del
NM_001079804.1:c.722_723del
NM_000152.4:c.722_723del
NM_001079803.2:c.722_723del
NM_001079804.2:c.722_723del
NM_001079803.3:c.722_723del
NM_001079804.3:c.722_723del
ENST00000302262.7:c.722_723del
ENST00000390015.7:c.722_723del
ENST00000570803.5:c.722_723del
Evidence submitted by expert panel
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