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.353_357dup
CA2573106102
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 6f9d1dba-3acd-4e0f-96d2-36de7cff0164
Approved on: 2023-06-25
Published on: 2023-06-25
HGVS expressions
NM_001354803.2:c.353_357dup
NC_000007.14:g.44145214_44145218dup
CM000669.2:g.44145214_44145218dup
NC_000007.13:g.44184813_44184817dup
CM000669.1:g.44184813_44184817dup
NC_000007.12:g.44151338_44151342dup
NG_008847.1:g.49209_49213dup
NG_008847.2:g.57956_57960dup
ENST00000395796.8:c.*1317_*1321dup
ENST00000616242.5:c.*439_*443dup
ENST00000683378.1:n.545_549dup
ENST00000336642.9:c.353_357dup
ENST00000345378.7:c.1322_1326dup
ENST00000403799.8:c.1319_1323dup
ENST00000671824.1:c.1382_1386dup
ENST00000672743.1:n.331_335dup
ENST00000673284.1:c.1319_1323dup
ENST00000336642.8:n.371_375dup
ENST00000345378.6:c.1322_1326dup
ENST00000395796.7:c.1316_1320dup
ENST00000403799.7:c.1319_1323dup
ENST00000437084.1:c.1268_1272dup
ENST00000459642.1:n.699_703dup
ENST00000616242.4:n.1316_1320dup
NM_000162.3:c.1319_1323dup
NM_033507.1:c.1322_1326dup
NM_033508.1:c.1316_1320dup
NM_000162.4:c.1319_1323dup
NM_001354800.1:c.1319_1323dup
NM_001354801.1:c.308_312dup
NM_001354802.1:c.179_183dup
NM_001354803.1:c.353_357dup
NM_033507.2:c.1322_1326dup
NM_033508.2:c.1316_1320dup
NM_000162.5:c.1319_1323dup
NM_033507.3:c.1322_1326dup
NM_033508.3:c.1316_1320dup
Evidence submitted by expert panel
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