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SH3BGRL2

Synonyms
-
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
14
Likely pathogenic
32
VUS
1,739
Likely benign
978
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carring pathogenic or likely pathogenic variants on SH3BGRL2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.7%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
21.1%
Abnormality of the eye
21.1%
Abnormality of the cardiovascular system
18.4%
Abnormality of the ear
13.2%
Abnormality of the integument
13.2%
Abnormality of limbs
10.5%
Abnormality of the immune system
10.5%
Abnormality of blood and blood-forming tissues
7.9%
Abnormality of the digestive system
7.9%
Abnormality of the genitourinary system
7.9%
Abnormality of the endocrine system
5.3%
Growth abnormality
5.3%
Neoplasm
5.3%
Abnormality of the respiratory system
2.6%
Constitutional symptom
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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