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GOLGA8N

Synonyms
GOLGA8R
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
27
Likely pathogenic
0
VUS
4,565
Likely benign
598
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on GOLGA8N gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of head or neck
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the ear
18.5%
Abnormality of the musculoskeletal system
18.5%
Abnormality of limbs
11.1%
Growth abnormality
11.1%
Abnormality of blood and blood-forming tissues
7.4%
Abnormality of the eye
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the integument
7.4%
Constitutional symptom
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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