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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Variant: NM_000152.5(GAA):c.806_830del (p.Leu269fs)
CA915952247
656144 (ClinVar)
Gene: GAA
Condition: glycogen storage disease II
Inheritance Mode: Autosomal recessive inheritance
UUID: 0ad423df-1060-458b-8ee9-3a8e9b43de5e
Approved on: 2023-03-10
Published on: 2023-03-10
HGVS expressions
NM_000152.5:c.806_830del
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
NC_000017.11:g.80107670_80107694del
CM000679.2:g.80107670_80107694del
NC_000017.10:g.78081469_78081493del
CM000679.1:g.78081469_78081493del
NC_000017.9:g.75696064_75696088del
NG_009822.1:g.11115_11139del
ENST00000302262.8:c.806_830del
ENST00000302262.7:c.806_830del
ENST00000390015.7:c.806_830del
ENST00000570803.5:c.806_830del
NM_000152.3:c.806_830del
NM_001079803.1:c.806_830del
NM_001079804.1:c.806_830del
NM_000152.4:c.806_830del
NM_001079803.2:c.806_830del
NM_001079804.2:c.806_830del
NM_001079803.3:c.806_830del
NM_001079804.3:c.806_830del
Evidence submitted by expert panel
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