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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Variant: NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
CA298940
182376 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 9bd60b2e-160b-4a9e-a85c-fa63f6b6d449
Approved on: 2023-08-25
Published on: 2023-08-25
HGVS expressions
NM_004360.5:c.1979dup
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
NC_000016.10:g.68823441dup
CM000678.2:g.68823441dup
NC_000016.9:g.68857344dup
CM000678.1:g.68857344dup
NC_000016.8:g.67414845dup
NG_008021.1:g.91150dup
ENST00000261769.10:c.1979dup
ENST00000261769.9:c.1979dup
ENST00000422392.6:c.1796dup
ENST00000562118.1:n.197dup
ENST00000562836.5:n.2050dup
ENST00000566510.5:c.*645dup
ENST00000566612.5:c.*219dup
ENST00000611625.4:c.2042dup
ENST00000612417.4:c.1830+1322dup
ENST00000621016.4:c.1865+1287dup
NM_004360.3:c.1979dup
NM_001317184.1:c.1796dup
NM_001317185.1:c.431dup
NM_001317186.1:c.14dup
NM_004360.4:c.1979dup
NM_001317184.2:c.1796dup
NM_001317185.2:c.431dup
NM_001317186.2:c.14dup
Evidence submitted by expert panel
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