CDH1

Curated reports relevant to this gene

• Hereditary Diffuse Gastric Cancer

  • CDH1-related diffuse gastric and lobular breast cancer syndromeAutosomal dominant

    CDH1 variants that raise the lifetime risk of diffuse gastric cancer and lobular breast cancer.

    • ClinGen rates the link definitive
    • 3 GenCC submitters rate it definitive or strong

    ▶Actionability

    Preventive removal of the stomach is often considered, or intensive endoscopic surveillance as an alternative, with breast MRI for women.

  • Hereditary diffuse gastric adenocarcinomaAutosomal dominant

    Familial clustering of diffuse-type stomach cancer, often caused by CDH1 variants.

    • 1 GenCC submitter rates it definitive or strong

    ▶Actionability

    Specialist assessment of stomach surgery or endoscopic surveillance.

• Breast and Ovarian Cancer Genes Beyond BRCA1/2

  • Hereditary breast cancerAutosomal dominant

    Inherited susceptibility to breast cancer caused by variants in one of several genes.

    • 1 GenCC submitter rates it definitive or strong

    ▶Actionability

    Earlier and more intensive breast screening, including MRI, may be recommended depending on the gene.

How CDH1 is laid out

Exons make up 4.8 kb of the gene's 98.2 kb; 2,649 of those bases code for the protein.

Sequencing CDH1

Variants with a page (228)

The CDH1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

See all 228 CDH1 variants →

ClinVar pathogenic variants (617)

The CDH1 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

• Pathogenic 481
• Pathogenic/likely pathogenic 17
• Likely pathogenic 119

See all 617 with every other CDH1 variant in ClinVar → (opens in a new tab)

Genes linked to the same conditions

• ATMATM serine/threonine kinaseShares 1 condition
• BARD1BRCA1 associated RING domain 1Shares 1 condition
• BRIP1BRCA1 interacting DNA helicase 1Shares 1 condition
• CHEK2checkpoint kinase 2Shares 1 condition
• CTNNA1catenin alpha 1Shares 1 condition
• PALB2partner and localizer of BRCA2Shares 1 condition

Traits linked to CDH1

The Human Phenotype Ontology lists these as features of the rare conditions CDH1 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

• HGNC: the gene's symbol, name, other symbols and location.
• MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
• GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
• The ACMG secondary findings list, SF v3.2.
• ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
• The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
• The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
• Data release 2026.10.17-8666dff2.

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