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TATDN1

Synonyms
CDA11
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
60
Likely pathogenic
352
VUS
3,686
Likely benign
793
Benign
0

Patient phenotypes

Proportions of phenotypes among 410 patients carring pathogenic or likely pathogenic variants on TATDN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.5%
Abnormality of the musculoskeletal system
39.8%
Abnormality of head or neck
35.4%
Abnormality of the eye
30.2%
Abnormality of the cardiovascular system
21.2%
Growth abnormality
17.1%
Abnormality of the ear
16.8%
Abnormality of limbs
16.6%
Abnormality of the integument
14.1%
Abnormality of the digestive system
11%
Abnormality of the genitourinary system
10.7%
Abnormality of the endocrine system
6.3%
Abnormality of blood and blood-forming tissues
5.4%
Abnormality of the respiratory system
4.9%
Abnormality of the immune system
3.9%
Abnormality of prenatal development or birth
3.2%
Neoplasm
2%
Abnormality of the breast
0.7%
Abnormality of the voice
0.5%
Constitutional symptom
0.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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