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TBC1D3G

Synonyms
TBC1D3C, TBC1D3D
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
81
Likely pathogenic
0
VUS
7,550
Likely benign
862
Benign
0

Patient Phenotypes

Proportions of phenotypes among 80 patients carrying pathogenic or likely pathogenic variants on TBC1D3G gene are displayed below. The following symptoms were found in patients with a variant in TBC1D3G. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30%
Abnormality of the cardiovascular system
22.5%
Abnormality of head or neck
21.3%
Abnormality of the eye
18.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of the ear
16.3%
Abnormality of the genitourinary system
10%
Abnormality of the integument
8.8%
Abnormality of limbs
7.5%
Abnormality of metabolism homeostasis
7.5%
Growth abnormality
7.5%
Abnormality of the digestive system
6.3%
Abnormality of the immune system
6.3%
Abnormality of the respiratory system
5%
Abnormality of blood and blood forming tissues
3.8%
Constitutional symptom
3.8%
Abnormality of the endocrine system
2.5%
Neoplasm
2.5%
Abnormality of prenatal development or birth
1.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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