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TBC1D2

Synonyms
PARIS-1, PARIS1, TBC1D2A
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
42
Likely pathogenic
77
VUS
4,643
Likely benign
373
Benign
0

Patient Phenotypes

Proportions of phenotypes among 115 patients carrying pathogenic or likely pathogenic variants on TBC1D2 gene are displayed below. The following symptoms were found in patients with a variant in TBC1D2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of the eye
23.5%
Abnormality of the musculoskeletal system
23.5%
Abnormality of head or neck
20.9%
Abnormality of the cardiovascular system
14.8%
Abnormality of the ear
14.8%
Abnormality of the genitourinary system
11.3%
Growth abnormality
10.4%
Abnormality of blood and blood forming tissues
7.8%
Abnormality of metabolism homeostasis
6.1%
Abnormality of limbs
4.3%
Abnormality of prenatal development or birth
3.5%
Abnormality of the digestive system
3.5%
Abnormality of the immune system
3.5%
Abnormality of the integument
3.5%
Abnormality of the respiratory system
1.7%
Abnormality of the endocrine system
0.9%
Constitutional symptom
0.9%
Neoplasm
0.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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