Home > Gene Browser > ERCC6

ERCC6

Synonyms
ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
External resources
Summary
-

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
12
Likely pathogenic
1
VUS
3,192
Likely benign
4,153
Benign
765

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on ERCC6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
61.5%
Abnormality of blood and blood-forming tissues
23.1%
Abnormality of the ear
23.1%
Abnormality of head or neck
15.4%
Abnormality of limbs
15.4%
Abnormality of the eye
15.4%
Abnormality of the integument
15.4%
Abnormality of the musculoskeletal system
15.4%
Growth abnormality
15.4%
Abnormality of the cardiovascular system
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the respiratory system
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes