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SEL1L3

Synonyms
Sel-1L3
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
11
Likely pathogenic
0
VUS
6,523
Likely benign
2,328
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on SEL1L3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
45.5%
Abnormality of the nervous system
36.4%
Abnormality of the genitourinary system
27.3%
Abnormality of the musculoskeletal system
27.3%
Abnormality of prenatal development or birth
18.2%
Abnormality of the cardiovascular system
18.2%
Abnormality of the digestive system
18.2%
Abnormality of the ear
18.2%
Abnormality of the integument
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the eye
9.1%
Abnormality of the respiratory system
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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