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GOLGA8H

Synonyms
GOLGA6L11
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
102
Likely pathogenic
201
VUS
14,699
Likely benign
2,002
Benign
0

Patient phenotypes

Proportions of phenotypes among 298 patients carring pathogenic or likely pathogenic variants on GOLGA8H gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of the musculoskeletal system
32.9%
Abnormality of the eye
27.2%
Abnormality of head or neck
24.8%
Growth abnormality
14.1%
Abnormality of the cardiovascular system
13.1%
Abnormality of the ear
13.1%
Abnormality of limbs
10.7%
Abnormality of the integument
9.7%
Abnormality of the digestive system
7.4%
Abnormality of the genitourinary system
6.7%
Abnormality of blood and blood-forming tissues
5.4%
Abnormality of the immune system
5.4%
Abnormality of the endocrine system
4.4%
Abnormality of the respiratory system
3%
Neoplasm
3%
Constitutional symptom
2.7%
Abnormality of prenatal development or birth
2%
Abnormality of the voice
0.7%
Abnormal cellular phenotype
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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