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NOL8

Synonyms
C9orf34, NOP132, bA62C3.3, bA62C3.4
External resources
Summary
NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004

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
30
Likely pathogenic
0
VUS
8,957
Likely benign
515
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on NOL8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
30%
Abnormality of the eye
23.3%
Abnormality of head or neck
10%
Abnormality of the ear
10%
Abnormality of the genitourinary system
10%
Abnormality of the musculoskeletal system
10%
Abnormality of blood and blood-forming tissues
3.3%
Abnormality of limbs
3.3%
Abnormality of the digestive system
3.3%
Abnormality of the immune system
3.3%
Abnormality of the integument
3.3%
Constitutional symptom
3.3%
Growth abnormality
3.3%
Abnormal cellular phenotype
0%
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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