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CFAP206

Synonyms
C6orf165, dJ382I10.1
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
27
VUS
1,088
Likely benign
1,603
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carrying pathogenic or likely pathogenic variants on CFAP206 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
34.2%
Abnormality of the nervous system
26.3%
Abnormality of the eye
23.7%
Abnormality of the genitourinary system
23.7%
Abnormality of the musculoskeletal system
23.7%
Abnormality of limbs
15.8%
Abnormality of the integument
15.8%
Abnormality of head or neck
13.2%
Abnormality of the ear
13.2%
Abnormality of the digestive system
10.5%
Abnormality of the immune system
10.5%
Growth abnormality
7.9%
Abnormality of the respiratory system
5.3%
Abnormal cellular phenotype
2.6%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormality of the breast
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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