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.407_418del
CA2017997780
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 5aea8eca-05ef-4eac-8699-86aa13e05d51
Approved on: 2023-06-18
Published on: 2023-06-18
HGVS expressions
NM_001354803.2:c.407_418del
NC_000007.14:g.44145158_44145169del
CM000669.2:g.44145158_44145169del
NC_000007.13:g.44184757_44184768del
CM000669.1:g.44184757_44184768del
NC_000007.12:g.44151282_44151293del
NG_008847.1:g.49263_49274del
NG_008847.2:g.58010_58021del
ENST00000395796.8:c.*1371_*1382del
ENST00000616242.5:c.*493_*504del
ENST00000683378.1:n.599_610del
ENST00000336642.9:c.407_418del
ENST00000345378.7:c.1376_1387del
ENST00000403799.8:c.1373_1384del
ENST00000671824.1:c.1436_1447del
ENST00000672743.1:n.381+4_381+15del
ENST00000673284.1:c.1369+4_1369+15del
ENST00000336642.8:n.425_436del
ENST00000345378.6:c.1376_1387del
ENST00000395796.7:c.1370_1381del
ENST00000403799.7:c.1373_1384del
ENST00000437084.1:c.1322_1333del
ENST00000459642.1:n.753_764del
ENST00000616242.4:n.1370_1381del
NM_000162.3:c.1373_1384del
NM_033507.1:c.1376_1387del
NM_033508.1:c.1370_1381del
NM_000162.4:c.1373_1384del
NM_001354800.1:c.1369+4_1369+15del
NM_001354801.1:c.362_373del
NM_001354802.1:c.229+4_229+15del
NM_001354803.1:c.407_418del
NM_033507.2:c.1376_1387del
NM_033508.2:c.1370_1381del
NM_000162.5:c.1373_1384del
NM_033507.3:c.1376_1387del
NM_033508.3:c.1370_1381del
Evidence submitted by expert panel
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