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MYO5B

Synonyms
-
External resources
Summary
The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease.

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
24
Likely pathogenic
0
VUS
26,106
Likely benign
8,699
Benign
26

Patient Phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on MYO5B gene are displayed below. The following symptoms were found in patients with a variant in MYO5B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.4%
Abnormality of the cardiovascular system
28.6%
Abnormality of head or neck
19%
Abnormality of the musculoskeletal system
19%
Abnormality of the genitourinary system
14.3%
Abnormality of limbs
9.5%
Abnormality of the eye
9.5%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of the digestive system
4.8%
Abnormality of the ear
4.8%
Abnormality of the endocrine system
4.8%
Abnormality of the integument
4.8%
Growth abnormality
4.8%
Neoplasm
4.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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