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GOLGA8K

Synonyms
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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
25
Likely pathogenic
6
VUS
14,306
Likely benign
4,133
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on GOLGA8K gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
48.3%
Abnormality of the nervous system
41.4%
Abnormality of the musculoskeletal system
31%
Abnormality of head or neck
24.1%
Abnormality of limbs
24.1%
Abnormality of the cardiovascular system
17.2%
Abnormality of the ear
13.8%
Abnormality of the integument
13.8%
Abnormality of the genitourinary system
10.3%
Growth abnormality
10.3%
Abnormality of the immune system
6.9%
Abnormality of the respiratory system
6.9%
Abnormality of the endocrine system
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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