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INO80E

Synonyms
CCDC95
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
15
Likely pathogenic
69
VUS
9,394
Likely benign
33
Benign
0

Patient phenotypes

Proportions of phenotypes among 74 patients carring pathogenic or likely pathogenic variants on INO80E gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
40.5%
Abnormality of the nervous system
25.7%
Abnormality of the integument
12.2%
Abnormality of the musculoskeletal system
12.2%
Abnormality of head or neck
10.8%
Abnormality of the ear
9.5%
Abnormality of the eye
8.1%
Abnormality of the cardiovascular system
5.4%
Neoplasm
5.4%
Abnormality of limbs
4.1%
Abnormality of the immune system
4.1%
Growth abnormality
4.1%
Abnormality of the digestive system
2.7%
Abnormal cellular phenotype
1.4%
Abnormality of the respiratory system
1.4%
Constitutional symptom
1.4%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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