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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- See Evidence submitted by expert panel for details.
Variant: NM_001354803.2:c.341_353del
CA2573106064
Gene: GCK
Condition: maturity-onset diabetes of the young type 2
Inheritance Mode: Autosomal dominant inheritance
UUID: 92d7f370-17a2-4d65-9c6d-72f8c4bf6551
HGVS expressions
NM_001354803.2:c.341_353del
NC_000007.14:g.44145217_44145229del
CM000669.2:g.44145217_44145229del
NC_000007.13:g.44184816_44184828del
CM000669.1:g.44184816_44184828del
NC_000007.12:g.44151341_44151353del
NG_008847.1:g.49197_49209del
NG_008847.2:g.57944_57956del
ENST00000395796.8:c.*1305_*1317del
ENST00000616242.5:c.*427_*439del
ENST00000683378.1:n.533_545del
ENST00000336642.9:c.341_353del
ENST00000345378.7:c.1310_1322del
ENST00000403799.8:c.1307_1319del
ENST00000671824.1:c.1370_1382del
ENST00000672743.1:n.319_331del
ENST00000673284.1:c.1307_1319del
ENST00000336642.8:n.359_371del
ENST00000345378.6:c.1310_1322del
ENST00000395796.7:c.1304_1316del
ENST00000403799.7:c.1307_1319del
ENST00000437084.1:c.1256_1268del
ENST00000459642.1:n.687_699del
ENST00000616242.4:n.1304_1316del
NM_000162.3:c.1307_1319del
NM_033507.1:c.1310_1322del
NM_033508.1:c.1304_1316del
NM_000162.4:c.1307_1319del
NM_001354800.1:c.1307_1319del
NM_001354801.1:c.296_308del
NM_001354802.1:c.167_179del
NM_001354803.1:c.341_353del
NM_033507.2:c.1310_1322del
NM_033508.2:c.1304_1316del
NM_000162.5:c.1307_1319del
NM_033507.3:c.1310_1322del
NM_033508.3:c.1304_1316del
Evidence submitted by expert panel
Approved on: 2023-06-20
Published on: 2023-06-20
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