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MYO3B

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
65
Likely pathogenic
0
VUS
14,205
Likely benign
9,414
Benign
0

Patient phenotypes

Proportions of phenotypes among 60 patients carring pathogenic or likely pathogenic variants on MYO3B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.3%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
31.7%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
16.7%
Growth abnormality
15%
Abnormality of the genitourinary system
13.3%
Abnormality of the integument
13.3%
Abnormality of the ear
11.7%
Abnormality of blood and blood-forming tissues
10%
Abnormality of limbs
8.3%
Abnormality of prenatal development or birth
8.3%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the immune system
5%
Neoplasm
5%
Abnormality of the respiratory system
3.3%
Abnormality of the breast
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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