The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
- ClinVar Id was derived from the Allele Registry.
- There was no gene found in the curated document received from the VCI/VCEP
- Gene listed was thus derived from ClinVar and/or CAR
Variant: NM_000261.2:c.1008del
CA1139655085
1342199 (ClinVar)
Gene: MYOC
Condition: juvenile open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 46c972a6-9c83-4492-ab2e-1afda05165a1
HGVS expressions
NM_000261.2:c.1008del
NC_000001.11:g.171636432del
CM000663.2:g.171636432del
NC_000001.10:g.171605572del
CM000663.1:g.171605572del
NC_000001.9:g.169872195del
NG_008859.1:g.21203del
ENST00000037502.11:c.1009del
ENST00000637303.1:c.235-2198del
ENST00000638471.1:c.*347del
ENST00000037502.10:c.1009del
ENST00000614688.1:c.1009-1del
NM_000261.1:c.1009del
NM_000261.2:c.1009del
NM_000261.2(MYOC):c.1009del (p.Gln337fs)
Evidence submitted by expert panel
Approved on: 2022-02-21
Published on: 2022-07-11
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