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GOLGA8G

Synonyms
GOLGA8F
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
19
Likely pathogenic
13
VUS
8,094
Likely benign
1,139
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on GOLGA8G gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
43.3%
Abnormality of head or neck
40%
Growth abnormality
26.7%
Abnormality of the genitourinary system
23.3%
Abnormality of the endocrine system
20%
Abnormality of the integument
16.7%
Abnormality of limbs
13.3%
Abnormality of the ear
13.3%
Abnormality of the eye
10%
Abnormality of the immune system
10%
Neoplasm
10%
Abnormality of prenatal development or birth
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormal cellular phenotype
3.3%
Abnormality of blood and blood-forming tissues
3.3%
Abnormality of the breast
3.3%
Abnormality of the digestive system
3.3%
Constitutional symptom
3.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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