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
- ClinVar Id was derived from the Allele Registry.
Variant: NM_001317186.2:c.561del
CA1139532475
981224 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: b361f4f7-29de-4a4a-99e2-94bafeac6f4f
Approved on: 2023-08-21
Published on: 2023-08-21
HGVS expressions
NM_001317186.2:c.561del
NC_000016.10:g.68833376del
CM000678.2:g.68833376del
NC_000016.9:g.68867279del
CM000678.1:g.68867279del
NC_000016.8:g.67424780del
NG_008021.1:g.101085del
ENST00000261769.10:c.2526del
ENST00000261769.9:c.2526del
ENST00000422392.6:c.2343del
ENST00000562118.1:n.744del
ENST00000562836.5:n.2597del
ENST00000566510.5:c.*1192del
ENST00000566612.5:c.*766del
ENST00000611625.4:c.2589del
ENST00000612417.4:c.1854-815del
ENST00000621016.4:c.1866-827del
NM_004360.3:c.2526del
NM_001317184.1:c.2343del
NM_001317185.1:c.978del
NM_001317186.1:c.561del
NM_004360.4:c.2526del
NM_004360.5:c.2526del
NM_001317184.2:c.2343del
NM_001317185.2:c.978del
NM_004360.5(CDH1):c.2526del (p.Ala843fs)
Evidence submitted by expert panel
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