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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- No ClinVar Id was directly found from the curated document
Variant: NM_001354803.2:c.377del
CA2017997775
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: a07096cb-60d5-417e-b03b-154599a64bf5
HGVS expressions
NM_001354803.2:c.377del
NC_000007.14:g.44145194del
CM000669.2:g.44145194del
NC_000007.13:g.44184793del
CM000669.1:g.44184793del
NC_000007.12:g.44151318del
NG_008847.1:g.49233del
NG_008847.2:g.57980del
ENST00000395796.8:c.*1341del
ENST00000616242.5:c.*463del
ENST00000683378.1:n.569del
ENST00000336642.9:c.377del
ENST00000345378.7:c.1346del
ENST00000403799.8:c.1343del
ENST00000671824.1:c.1406del
ENST00000672743.1:n.355del
ENST00000673284.1:c.1343del
ENST00000336642.8:n.395del
ENST00000345378.6:c.1346del
ENST00000395796.7:c.1340del
ENST00000403799.7:c.1343del
ENST00000437084.1:c.1292del
ENST00000459642.1:n.723del
ENST00000616242.4:n.1340del
NM_000162.3:c.1343del
NM_033507.1:c.1346del
NM_033508.1:c.1340del
NM_000162.4:c.1343del
NM_001354800.1:c.1343del
NM_001354801.1:c.332del
NM_001354802.1:c.203del
NM_001354803.1:c.377del
NM_033507.2:c.1346del
NM_033508.2:c.1340del
NM_000162.5:c.1343del
NM_033507.3:c.1346del
NM_033508.3:c.1340del
Evidence submitted by expert panel
Approved on: 2023-06-24
Published on: 2023-06-24
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