Home > Gene Browser > SEL1L2

SEL1L2

Synonyms
C20orf50, sel-1L2
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
90
Likely pathogenic
0
VUS
4,889
Likely benign
161
Benign
0

Patient phenotypes

Proportions of phenotypes among 61 patients carring pathogenic or likely pathogenic variants on SEL1L2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.1%
Abnormality of the musculoskeletal system
29.5%
Abnormality of head or neck
16.4%
Abnormality of blood and blood-forming tissues
13.1%
Abnormality of limbs
11.5%
Abnormality of the genitourinary system
11.5%
Abnormality of the ear
9.8%
Abnormality of the eye
9.8%
Abnormality of the integument
8.2%
Abnormality of the cardiovascular system
6.6%
Growth abnormality
6.6%
Abnormality of the immune system
4.9%
Abnormality of the digestive system
3.3%
Abnormal cellular phenotype
1.6%
Abnormality of the respiratory system
1.6%
Neoplasm
1.6%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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