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DENND4B

Synonyms
KIAA0476
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
76
Likely pathogenic
8,983
VUS
6,852
Likely benign
4,837
Benign
0

Patient phenotypes

Proportions of phenotypes among 4611 patients carrying pathogenic or likely pathogenic variants on DENND4B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.2%
Abnormality of the musculoskeletal system
25.4%
Abnormality of the cardiovascular system
22.4%
Abnormality of head or neck
19.3%
Abnormality of the eye
16.3%
Abnormality of the ear
13.7%
Growth abnormality
11.5%
Abnormality of the integument
9.9%
Abnormality of limbs
9.8%
Abnormality of the genitourinary system
9.8%
Abnormality of the digestive system
7.2%
Abnormality of the immune system
5.6%
Abnormality of blood and blood-forming tissues
5.2%
Abnormality of the respiratory system
3.9%
Abnormality of the endocrine system
3.3%
Abnormality of prenatal development or birth
2.7%
Neoplasm
2.3%
Constitutional symptom
0.9%
Abnormality of the breast
0.6%
Abnormal cellular phenotype
0.4%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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