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.339dup
CA2573106065
Gene: GCK
Condition: maturity-onset diabetes of the young type 2
Inheritance Mode: Semidominant inheritance
UUID: 1519820c-2ab9-49c6-b5b8-2fa2370155e0
HGVS expressions
NM_001354803.2:c.339dup
NC_000007.14:g.44145229dup
CM000669.2:g.44145229dup
NC_000007.13:g.44184828dup
CM000669.1:g.44184828dup
NC_000007.12:g.44151353dup
NG_008847.1:g.49195dup
NG_008847.2:g.57942dup
ENST00000395796.8:c.*1303dup
ENST00000616242.5:c.*425dup
ENST00000683378.1:n.531dup
ENST00000336642.9:c.339dup
ENST00000345378.7:c.1308dup
ENST00000403799.8:c.1305dup
ENST00000671824.1:c.1368dup
ENST00000672743.1:n.317dup
ENST00000673284.1:c.1305dup
ENST00000336642.8:c.357dup
ENST00000345378.6:c.1308dup
ENST00000395796.7:c.1302dup
ENST00000403799.7:c.1305dup
ENST00000437084.1:c.1254dup
ENST00000459642.1:n.685dup
ENST00000616242.4:c.1302dup
NM_000162.3:c.1305dup
NM_033507.1:c.1308dup
NM_033508.1:c.1302dup
NM_000162.4:c.1305dup
NM_001354800.1:c.1305dup
NM_001354801.1:c.294dup
NM_001354802.1:c.165dup
NM_001354803.1:c.339dup
NM_033507.2:c.1308dup
NM_033508.2:c.1302dup
NM_000162.5:c.1305dup
NM_033507.3:c.1308dup
NM_033508.3:c.1302dup
Evidence submitted by expert panel
Approved on: 2023-11-03
Published on: 2023-11-03
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