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C9orf131

Synonyms
-
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
49
Likely pathogenic
0
VUS
1,751
Likely benign
186
Benign
0

Patient phenotypes

Proportions of phenotypes among 49 patients carring pathogenic or likely pathogenic variants on C9orf131 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.8%
Abnormality of the nervous system
34.7%
Abnormality of the musculoskeletal system
26.5%
Abnormality of head or neck
20.4%
Abnormality of the ear
18.4%
Growth abnormality
8.2%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of limbs
6.1%
Abnormality of prenatal development or birth
6.1%
Abnormality of the genitourinary system
6.1%
Abnormality of the cardiovascular system
4.1%
Abnormality of the immune system
4.1%
Abnormality of the respiratory system
4.1%
Abnormality of the digestive system
2%
Abnormality of the integument
2%
Constitutional symptom
2%
Neoplasm
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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