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TBC1D3F

Synonyms
TBC1D3, TBC1D3G
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
39
Likely pathogenic
0
VUS
5,280
Likely benign
400
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carring pathogenic or likely pathogenic variants on TBC1D3F gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.6%
Abnormality of the cardiovascular system
26.3%
Abnormality of the ear
26.3%
Abnormality of the eye
26.3%
Abnormality of head or neck
23.7%
Abnormality of the musculoskeletal system
21.1%
Abnormality of the integument
18.4%
Abnormality of the endocrine system
13.2%
Abnormality of limbs
10.5%
Abnormality of the genitourinary system
7.9%
Growth abnormality
7.9%
Abnormality of blood and blood-forming tissues
2.6%
Abnormality of the breast
2.6%
Abnormality of the digestive system
2.6%
Abnormality of the respiratory system
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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