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_000261.2(MYOC):c.335A>G (p.Glu112Gly)
CA10608378
293719 (ClinVar)
Gene: MYOC
Condition: primary open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 8aa0b34f-2d59-4f1c-b07e-b57c9eb7d819
Approved on: 2023-08-08
Published on: 2023-08-08
HGVS expressions
NM_000261.2:c.335A>G
NM_000261.2(MYOC):c.335A>G (p.Glu112Gly)
NC_000001.11:g.171652277T>C
CM000663.2:g.171652277T>C
NC_000001.10:g.171621417T>C
CM000663.1:g.171621417T>C
NC_000001.9:g.169888040T>C
NG_008859.1:g.5357A>G
ENST00000037502.11:c.335A>G
ENST00000638471.1:c.130+205A>G
ENST00000037502.10:c.335A>G
ENST00000614688.1:c.335A>G
NM_000261.1:c.335A>G
Evidence submitted by expert panel
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