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TUBB6

Synonyms
FPVEPD, HsT1601, TUBB-5
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
10
Likely pathogenic
0
VUS
552
Likely benign
1,089
Benign
1,794

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on TUBB6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
30%
Abnormality of the musculoskeletal system
20%
Abnormality of limbs
10%
Abnormality of the cardiovascular system
10%
Abnormality of the ear
10%
Abnormality of the eye
10%
Abnormality of the nervous system
10%
Abnormality of the respiratory system
10%
Growth abnormality
10%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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