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
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_001354803.2:c.203del
CA2580610955
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 92e277c9-2bed-4781-8f1e-be52b90829bd
Approved on: 2024-04-28
Published on: 2024-04-28
HGVS expressions
NM_001354803.2:c.203del
NC_000007.14:g.44145581del
CM000669.2:g.44145581del
NC_000007.13:g.44185180del
CM000669.1:g.44185180del
NC_000007.12:g.44151705del
NG_008847.1:g.48843del
NG_008847.2:g.57590del
ENST00000395796.8:c.*1167del
ENST00000616242.5:c.*289del
ENST00000683378.1:n.395del
ENST00000336642.9:c.203del
ENST00000345378.7:c.1172del
ENST00000403799.8:c.1169del
ENST00000671824.1:c.1232del
ENST00000672743.1:n.181del
ENST00000673284.1:c.1169del
ENST00000336642.8:c.221del
ENST00000345378.6:c.1172del
ENST00000395796.7:c.1166del
ENST00000403799.7:c.1169del
ENST00000437084.1:c.1118del
ENST00000459642.1:n.549del
ENST00000616242.4:c.1166del
NM_000162.3:c.1169del
NM_033507.1:c.1172del
NM_033508.1:c.1166del
NM_000162.4:c.1169del
NM_001354800.1:c.1169del
NM_001354801.1:c.158del
NM_001354802.1:c.29del
NM_001354803.1:c.203del
NM_033507.2:c.1172del
NM_033508.2:c.1166del
NM_000162.5:c.1169del
NM_033507.3:c.1172del
NM_033508.3:c.1166del
Evidence submitted by expert panel
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