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SH3BGRL3

Synonyms
HEL-S-297, SH3BP-1, TIP-B1
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
1,452
Likely pathogenic
0
VUS
3,663
Likely benign
31
Benign
0

Patient phenotypes

Proportions of phenotypes among 606 patients carring pathogenic or likely pathogenic variants on SH3BGRL3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.4%
Abnormality of the eye
35.3%
Abnormality of the musculoskeletal system
31.2%
Abnormality of head or neck
26.6%
Abnormality of the cardiovascular system
22.1%
Abnormality of the ear
19%
Growth abnormality
16.5%
Abnormality of the integument
14.5%
Abnormality of limbs
13.5%
Abnormality of the genitourinary system
10.7%
Abnormality of the digestive system
8.4%
Abnormality of the immune system
6.3%
Abnormality of the respiratory system
5.3%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the endocrine system
4.1%
Neoplasm
2.6%
Abnormality of prenatal development or birth
2.1%
Abnormality of the voice
1%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.7%
Constitutional symptom
0.3%
Abnormality of the thoracic cavity
0.2%
Abnormality of metabolism homeostasis
0%

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