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C17orf80

Synonyms
HLC-8, MIG3, SPEP1
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
77
Likely pathogenic
291
VUS
12,957
Likely benign
720
Benign
0

Patient Phenotypes

Proportions of phenotypes among 367 patients carrying pathogenic or likely pathogenic variants on C17orf80 gene are displayed below. The following symptoms were found in patients with a variant in C17orf80. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.8%
Abnormality of the musculoskeletal system
22.9%
Abnormality of the eye
20.7%
Abnormality of the cardiovascular system
16.9%
Abnormality of head or neck
15.5%
Abnormality of the ear
13.9%
Growth abnormality
10.6%
Abnormality of the genitourinary system
7.4%
Abnormality of metabolism homeostasis
6.5%
Abnormality of the integument
6.3%
Abnormality of limbs
6%
Abnormality of blood and blood forming tissues
5.7%
Abnormality of the immune system
4.6%
Abnormality of the digestive system
4.4%
Abnormality of the endocrine system
3.3%
Neoplasm
3.3%
Abnormality of the respiratory system
2.2%
Abnormality of prenatal development or birth
1.9%
Constitutional symptom
1.4%
Abnormal cellular phenotype
0.3%
Abnormality of the breast
0.3%
Abnormality of the voice
0.3%
Abnormality of the thoracic cavity
0%

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