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.167C>A
CA367398804
Gene: GCK
Condition: maturity-onset diabetes of the young type 2
Inheritance Mode: Semidominant inheritance
UUID: 7f5e3e97-4e94-4b0c-8cf9-53b52318d11f
Approved on: 2023-11-22
Published on: 2023-11-22
HGVS expressions
NM_001354803.2:c.167C>A
NC_000007.14:g.44145617G>T
CM000669.2:g.44145617G>T
NC_000007.13:g.44185216G>T
CM000669.1:g.44185216G>T
NC_000007.12:g.44151741G>T
NG_008847.1:g.48807C>A
NG_008847.2:g.57554C>A
ENST00000395796.8:c.*1131C>A
ENST00000616242.5:c.*253C>A
ENST00000683378.1:n.359C>A
ENST00000336642.9:c.167C>A
ENST00000345378.7:c.1136C>A
ENST00000403799.8:c.1133C>A
ENST00000671824.1:c.1196C>A
ENST00000672743.1:n.145C>A
ENST00000673284.1:c.1133C>A
ENST00000336642.8:c.185C>A
ENST00000345378.6:c.1136C>A
ENST00000395796.7:c.1130C>A
ENST00000403799.7:c.1133C>A
ENST00000437084.1:c.1082C>A
ENST00000459642.1:n.513C>A
ENST00000616242.4:c.1130C>A
NM_000162.3:c.1133C>A
NM_033507.1:c.1136C>A
NM_033508.1:c.1130C>A
NM_000162.4:c.1133C>A
NM_001354800.1:c.1133C>A
NM_001354801.1:c.122C>A
NM_001354802.1:c.-8C>A
NM_001354803.1:c.167C>A
NM_033507.2:c.1136C>A
NM_033508.2:c.1130C>A
NM_000162.5:c.1133C>A
NM_033507.3:c.1136C>A
NM_033508.3:c.1130C>A
Evidence submitted by expert panel
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