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COMMD6

Synonyms
Acrg
External resources
Summary
COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
37
Likely pathogenic
0
VUS
1,037
Likely benign
3
Benign
0

Patient Phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on COMMD6 gene are displayed below. The following symptoms were found in patients with a variant in COMMD6. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.1%
Abnormality of the musculoskeletal system
18.9%
Abnormality of the cardiovascular system
16.2%
Abnormality of blood and blood forming tissues
13.5%
Abnormality of head or neck
10.8%
Abnormality of limbs
10.8%
Abnormality of the immune system
10.8%
Abnormality of the ear
8.1%
Abnormality of the eye
8.1%
Abnormality of the genitourinary system
8.1%
Growth abnormality
8.1%
Abnormality of metabolism homeostasis
5.4%
Abnormality of the digestive system
5.4%
Abnormality of prenatal development or birth
2.7%
Abnormality of the integument
2.7%
Abnormality of the respiratory system
2.7%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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