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GOLGA8J

Synonyms
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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
48
Likely pathogenic
0
VUS
20,237
Likely benign
1,537
Benign
0

Patient phenotypes

Proportions of phenotypes among 46 patients carring pathogenic or likely pathogenic variants on GOLGA8J gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37%
Abnormality of the nervous system
28.3%
Abnormality of the cardiovascular system
19.6%
Abnormality of head or neck
17.4%
Abnormality of the musculoskeletal system
17.4%
Abnormality of the integument
15.2%
Growth abnormality
15.2%
Abnormality of the ear
10.9%
Abnormality of the immune system
10.9%
Abnormality of the digestive system
8.7%
Abnormality of blood and blood-forming tissues
6.5%
Abnormality of limbs
6.5%
Abnormality of the respiratory system
6.5%
Neoplasm
6.5%
Abnormality of prenatal development or birth
4.3%
Abnormality of the genitourinary system
4.3%
Abnormal cellular phenotype
2.2%
Abnormality of the endocrine system
2.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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