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
Variant: NM_001354803.2:c.382del
CA2017997777
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 9ca2ade5-65cc-44cf-bb7b-f657f956b84f
HGVS expressions
NM_001354803.2:c.382del
NC_000007.14:g.44145187del
CM000669.2:g.44145187del
NC_000007.13:g.44184786del
CM000669.1:g.44184786del
NC_000007.12:g.44151311del
NG_008847.1:g.49238del
NG_008847.2:g.57985del
ENST00000395796.8:c.*1346del
ENST00000616242.5:c.*468del
ENST00000683378.1:n.574del
ENST00000336642.9:c.382del
ENST00000345378.7:c.1351del
ENST00000403799.8:c.1348del
ENST00000671824.1:c.1411del
ENST00000672743.1:n.360del
ENST00000673284.1:c.1348del
ENST00000336642.8:n.400del
ENST00000345378.6:c.1351del
ENST00000395796.7:c.1345del
ENST00000403799.7:c.1348del
ENST00000437084.1:c.1297del
ENST00000459642.1:n.728del
ENST00000616242.4:n.1345del
NM_000162.3:c.1348del
NM_033507.1:c.1351del
NM_033508.1:c.1345del
NM_000162.4:c.1348del
NM_001354800.1:c.1348del
NM_001354801.1:c.337del
NM_001354802.1:c.208del
NM_001354803.1:c.382del
NM_033507.2:c.1351del
NM_033508.2:c.1345del
NM_000162.5:c.1348del
NM_033507.3:c.1351del
NM_033508.3:c.1345del
Evidence submitted by expert panel
Approved on: 2023-09-01
Published on: 2023-09-01
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