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_004360.3(CDH1):c.603delT (p.Val202Leufs)
CA645369675
428620 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 823147f4-0b00-4f3e-b750-2a3f3dec1ee0
Approved on: 2023-08-25
Published on: 2023-08-25
HGVS expressions
NM_004360.3:c.603delT
NM_004360.3(CDH1):c.603delT (p.Val202Leufs)
NC_000016.10:g.68808764del
CM000678.2:g.68808764del
NC_000016.9:g.68842667del
CM000678.1:g.68842667del
NC_000016.8:g.67400168del
NG_008021.1:g.76473del
ENST00000261769.10:c.603del
ENST00000261769.9:c.603del
ENST00000422392.6:c.603del
ENST00000561751.1:n.370del
ENST00000562836.5:n.674del
ENST00000564676.5:n.885del
ENST00000566510.5:c.531+197del
ENST00000566612.5:c.603del
ENST00000567320.1:n.113del
ENST00000611625.4:c.603del
ENST00000612417.4:c.603del
ENST00000621016.4:c.603del
NM_004360.3:c.603del
NM_001317184.1:c.603del
NM_001317185.1:c.-1013del
NM_001317186.1:c.-1217del
NM_004360.4:c.603del
NM_004360.5:c.603del
NM_001317184.2:c.603del
NM_001317185.2:c.-1013del
NM_001317186.2:c.-1217del
NM_004360.5(CDH1):c.603del (p.Val202fs)
Evidence submitted by expert panel
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