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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- 'cspec' property is found but contains no ID!
- See Evidence submitted by expert panel for details.
Variant: NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)
CA658798634
532446 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 1fb01c71-e29e-491f-86d2-2f85f675d043
Approved on: 2023-08-02
Published on: 2023-08-02
HGVS expressions
NM_004360.5:c.2387_2406del
NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)
NC_000016.10:g.68829745_68829764del
CM000678.2:g.68829745_68829764del
NC_000016.9:g.68863648_68863667del
CM000678.1:g.68863648_68863667del
NC_000016.8:g.67421149_67421168del
NG_008021.1:g.97454_97473del
ENST00000261769.10:c.2387_2406del
ENST00000261769.9:c.2387_2406del
ENST00000422392.6:c.2204_2223del
ENST00000562118.1:n.605_624del
ENST00000562836.5:n.2458_2477del
ENST00000566510.5:c.*1053_*1072del
ENST00000566612.5:c.*627_*646del
ENST00000611625.4:c.2450_2469del
ENST00000612417.4:c.1853+3191_1853+3210del
ENST00000621016.4:c.1866-4458_1866-4439del
NM_004360.3:c.2387_2406del
NM_001317184.1:c.2204_2223del
NM_001317185.1:c.839_858del
NM_001317186.1:c.422_441del
NM_004360.4:c.2387_2406del
NM_001317184.2:c.2204_2223del
NM_001317185.2:c.839_858del
NM_001317186.2:c.422_441del
Evidence submitted by expert panel
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