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TTLL10

Synonyms
TTLL5
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
196
VUS
8,987
Likely benign
675
Benign
0

Patient phenotypes

Proportions of phenotypes among 237 patients carring pathogenic or likely pathogenic variants on TTLL10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51.5%
Abnormality of the musculoskeletal system
43.5%
Abnormality of head or neck
37.1%
Abnormality of the eye
27.4%
Growth abnormality
23.2%
Abnormality of the cardiovascular system
21.9%
Abnormality of the ear
19%
Abnormality of the integument
17.3%
Abnormality of limbs
16%
Abnormality of the digestive system
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the respiratory system
6.3%
Abnormality of blood and blood-forming tissues
5.5%
Abnormality of the immune system
4.2%
Abnormality of prenatal development or birth
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the breast
1.3%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0.8%
Abnormality of the voice
0.8%
Neoplasm
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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