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CLHC1

Synonyms
C2orf63
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
94
Likely pathogenic
46
VUS
3,359
Likely benign
36
Benign
0

Patient phenotypes

Proportions of phenotypes among 139 patients carring pathogenic or likely pathogenic variants on CLHC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.9%
Abnormality of the musculoskeletal system
26.6%
Abnormality of head or neck
20.9%
Abnormality of the cardiovascular system
18.7%
Abnormality of the eye
15.8%
Growth abnormality
15.1%
Abnormality of the ear
13.7%
Abnormality of the integument
12.2%
Abnormality of the genitourinary system
11.5%
Abnormality of limbs
7.2%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the digestive system
5%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
2.9%
Abnormality of the endocrine system
2.2%
Abnormality of prenatal development or birth
1.4%
Constitutional symptom
1.4%
Neoplasm
0.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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