Home > Gene Browser > GOLGA8M

GOLGA8M

Synonyms
-
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
34
Likely pathogenic
66
VUS
20,759
Likely benign
4,589
Benign
0

Patient phenotypes

Proportions of phenotypes among 98 patients carring pathogenic or likely pathogenic variants on GOLGA8M gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
49%
Abnormality of the nervous system
34.7%
Abnormality of the musculoskeletal system
23.5%
Abnormality of head or neck
18.4%
Abnormality of the integument
10.2%
Abnormality of the cardiovascular system
9.2%
Abnormality of limbs
8.2%
Abnormality of the ear
8.2%
Abnormality of the endocrine system
7.1%
Abnormality of the genitourinary system
7.1%
Growth abnormality
7.1%
Abnormality of the digestive system
6.1%
Abnormality of the immune system
5.1%
Abnormality of blood and blood-forming tissues
4.1%
Neoplasm
4.1%
Abnormality of prenatal development or birth
2%
Abnormality of the respiratory system
2%
Abnormality of the voice
2%
Abnormal cellular phenotype
1%
Constitutional symptom
1%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes