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DENND4B

Synonyms
KIAA0476
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
154
Likely pathogenic
5,317
VUS
6,178
Likely benign
108
Benign
0

Patient phenotypes

Proportions of phenotypes among 2720 patients carring pathogenic or likely pathogenic variants on DENND4B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.8%
Abnormality of the musculoskeletal system
29.5%
Abnormality of head or neck
22.8%
Abnormality of the cardiovascular system
18.5%
Abnormality of the eye
18.1%
Abnormality of the ear
16%
Growth abnormality
13.5%
Abnormality of the integument
10.5%
Abnormality of limbs
10.2%
Abnormality of the genitourinary system
9.5%
Abnormality of the digestive system
7.4%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the immune system
5.7%
Abnormality of the respiratory system
3.8%
Abnormality of prenatal development or birth
3.2%
Abnormality of the endocrine system
3.2%
Neoplasm
2.5%
Constitutional symptom
1%
Abnormality of the breast
0.6%
Abnormality of the voice
0.3%
Abnormal cellular phenotype
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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