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TBC1D3H

Synonyms
-
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
13
Likely pathogenic
49
VUS
15,403
Likely benign
2,802
Benign
0

Patient Phenotypes

Proportions of phenotypes among 60 patients carrying pathogenic or likely pathogenic variants on TBC1D3H gene are displayed below. The following symptoms were found in patients with a variant in TBC1D3H. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
46.7%
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
10%
Abnormality of blood and blood forming tissues
5%
Abnormality of limbs
5%
Abnormality of metabolism homeostasis
5%
Abnormality of the ear
5%
Abnormality of the endocrine system
5%
Abnormality of the integument
3.3%
Abnormality of the respiratory system
3.3%
Abnormal cellular phenotype
1.7%
Abnormality of the cardiovascular system
1.7%
Abnormality of the digestive system
1.7%
Abnormality of the genitourinary system
1.7%
Abnormality of the immune system
1.7%
Abnormality of the voice
1.7%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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