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KIAA1522

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
5,927
Likely pathogenic
0
VUS
30,368
Likely benign
351
Benign
0

Patient phenotypes

Proportions of phenotypes among 4681 patients carring pathogenic or likely pathogenic variants on KIAA1522 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.5%
Abnormality of the musculoskeletal system
31.9%
Abnormality of the eye
27.5%
Abnormality of head or neck
23.9%
Abnormality of the cardiovascular system
23.8%
Abnormality of the ear
14.8%
Growth abnormality
14%
Abnormality of the integument
13.5%
Abnormality of limbs
12.8%
Abnormality of the genitourinary system
10.7%
Abnormality of the digestive system
9.2%
Abnormality of the immune system
7.3%
Abnormality of the endocrine system
4.5%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the respiratory system
4.3%
Neoplasm
3.6%
Abnormality of prenatal development or birth
3.1%
Constitutional symptom
1.6%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of the voice
0.6%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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