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.
CA913187393
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 5e6ad559-c512-4405-946a-5a91b953e1f9
Approved on: 2020-04-20
Published on: 2020-05-28
HGVS expressions
NM_001079804.3:c.2161del
NC_000017.11:g.80113338del
CM000679.2:g.80113338del
NC_000017.10:g.78087137del
CM000679.1:g.78087137del
NC_000017.9:g.75701732del
NG_009822.1:g.16783del
NM_000152.3:c.2161del
NM_001079803.1:c.2161del
NM_001079804.1:c.2161del
NM_000152.4:c.2161del
NM_001079803.2:c.2161del
NM_001079804.2:c.2161del
NM_000152.5:c.2161del
NM_001079803.3:c.2161del
ENST00000302262.7:c.2161del
ENST00000390015.7:c.2161del
ENST00000572080.1:n.580del
Evidence submitted by expert panel
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