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.720del (p.Asn240fs)
CA645369679
428631 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 70e74b13-a41c-4cf6-b85e-460c5d4ef016
HGVS expressions
NM_004360.5:c.720del
NM_004360.5(CDH1):c.720del (p.Asn240fs)
NC_000016.10:g.68810229del
CM000678.2:g.68810229del
NC_000016.9:g.68844132del
CM000678.1:g.68844132del
NC_000016.8:g.67401633del
NG_008021.1:g.77938del
ENST00000261769.10:c.720del
ENST00000261769.9:c.720del
ENST00000422392.6:c.720del
ENST00000561751.1:n.454+1381del
ENST00000562836.5:n.791del
ENST00000566510.5:c.564del
ENST00000566612.5:c.720del
ENST00000611625.4:c.720del
ENST00000612417.4:c.720del
ENST00000621016.4:c.720del
NM_004360.3:c.720del
NM_001317184.1:c.720del
NM_001317185.1:c.-896del
NM_001317186.1:c.-1100del
NM_004360.4:c.720del
NM_001317184.2:c.720del
NM_001317185.2:c.-896del
NM_001317186.2:c.-1100del
Evidence submitted by expert panel
Approved on: 2023-08-25
Published on: 2023-08-25
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