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GOLGA8B

Synonyms
GOLGA5
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
128
Likely pathogenic
12
VUS
16,158
Likely benign
697
Benign
0

Patient phenotypes

Proportions of phenotypes among 140 patients carring pathogenic or likely pathogenic variants on GOLGA8B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.4%
Abnormality of the musculoskeletal system
56.4%
Abnormality of head or neck
52.1%
Abnormality of the eye
30.7%
Growth abnormality
25.7%
Abnormality of limbs
25%
Abnormality of the cardiovascular system
23.6%
Abnormality of the ear
23.6%
Abnormality of the integument
23.6%
Abnormality of the digestive system
19.3%
Abnormality of the genitourinary system
16.4%
Abnormality of the respiratory system
15.7%
Abnormality of the endocrine system
7.1%
Abnormality of the immune system
7.1%
Abnormality of blood and blood-forming tissues
5%
Abnormality of prenatal development or birth
4.3%
Abnormality of the breast
1.4%
Abnormality of the voice
1.4%
Constitutional symptom
0.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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