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.290del
CA1139771322
Gene: GCK
Condition: maturity-onset diabetes of the young type 2
Inheritance Mode: Semidominant inheritance
UUID: 5222dbb8-c9b7-4403-b77d-3bb564f07a5e
HGVS expressions
NM_001354803.2:c.290del
NC_000007.14:g.44145279del
CM000669.2:g.44145279del
NC_000007.13:g.44184878del
CM000669.1:g.44184878del
NC_000007.12:g.44151403del
NG_008847.1:g.49146del
NG_008847.2:g.57893del
ENST00000395796.8:c.*1254del
ENST00000616242.5:c.*376del
ENST00000683378.1:n.482del
ENST00000336642.9:c.290del
ENST00000345378.7:c.1259del
ENST00000403799.8:c.1256del
ENST00000671824.1:c.1319del
ENST00000672743.1:n.268del
ENST00000673284.1:c.1256del
ENST00000336642.8:n.308del
ENST00000345378.6:c.1259del
ENST00000395796.7:c.1253del
ENST00000403799.7:c.1256del
ENST00000437084.1:c.1205del
ENST00000459642.1:n.636del
ENST00000616242.4:n.1253del
NM_000162.3:c.1256del
NM_033507.1:c.1259del
NM_033508.1:c.1253del
NM_000162.4:c.1256del
NM_001354800.1:c.1256del
NM_001354801.1:c.245del
NM_001354802.1:c.116del
NM_001354803.1:c.290del
NM_033507.2:c.1259del
NM_033508.2:c.1253del
NM_000162.5:c.1256del
NM_033507.3:c.1259del
NM_033508.3:c.1253del
Evidence submitted by expert panel
Approved on: 2023-06-26
Published on: 2023-06-26
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