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C6orf226

Synonyms
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External resources

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
6
Likely pathogenic
238
VUS
225
Likely benign
62
Benign
0

Patient phenotypes

Proportions of phenotypes among 244 patients carring pathogenic or likely pathogenic variants on C6orf226 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
43.4%
Abnormality of the nervous system
35.2%
Abnormality of the musculoskeletal system
23.4%
Abnormality of head or neck
16%
Abnormality of limbs
12.7%
Abnormality of the cardiovascular system
8.6%
Abnormality of the integument
8.2%
Growth abnormality
8.2%
Abnormality of the ear
7.8%
Abnormality of the digestive system
6.6%
Abnormality of the genitourinary system
6.1%
Neoplasm
5.3%
Abnormality of the immune system
4.9%
Abnormality of blood and blood-forming tissues
4.5%
Constitutional symptom
4.5%
Abnormality of the endocrine system
2.9%
Abnormal cellular phenotype
1.6%
Abnormality of prenatal development or birth
1.2%
Abnormality of the respiratory system
1.2%
Abnormality of the breast
0.4%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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