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TUBGCP3

Synonyms
104p, ALP6, GCP3, Grip104, SPBC98, Spc98, Spc98p
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
72
Likely pathogenic
80
VUS
5,221
Likely benign
750
Benign
0

Patient Phenotypes

Proportions of phenotypes among 73 patients carrying pathogenic or likely pathogenic variants on TUBGCP3 gene are displayed below. The following symptoms were found in patients with a variant in TUBGCP3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
42.5%
Abnormality of the nervous system
42.5%
Abnormality of head or neck
38.4%
Abnormality of the eye
19.2%
Abnormality of the cardiovascular system
13.7%
Abnormality of the integument
13.7%
Growth abnormality
11%
Abnormality of the ear
9.6%
Abnormality of limbs
8.2%
Abnormality of the genitourinary system
8.2%
Abnormality of the immune system
6.8%
Abnormality of metabolism homeostasis
5.5%
Abnormality of the digestive system
4.1%
Abnormality of blood and blood forming tissues
2.7%
Abnormality of prenatal development or birth
2.7%
Neoplasm
2.7%
Abnormality of the breast
1.4%
Abnormality of the respiratory system
1.4%
Constitutional symptom
1.4%
Abnormal cellular phenotype
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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