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TTC34

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
25
Likely pathogenic
14
VUS
3,871
Likely benign
125
Benign
0

Patient phenotypes

Proportions of phenotypes among 39 patients carring pathogenic or likely pathogenic variants on TTC34 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
41%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
30.8%
Abnormality of the eye
30.8%
Abnormality of the cardiovascular system
12.8%
Growth abnormality
12.8%
Abnormality of limbs
10.3%
Abnormality of the integument
10.3%
Abnormality of the digestive system
7.7%
Abnormality of the ear
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of prenatal development or birth
5.1%
Abnormality of the immune system
5.1%
Abnormality of the respiratory system
2.6%
Abnormality of the voice
2.6%
Constitutional symptom
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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