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GNA12

Synonyms
HG1M1, NNX3, RMP, gep
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
6
VUS
2,599
Likely benign
212
Benign
0

Patient phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on GNA12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
47.1%
Abnormality of the musculoskeletal system
41.2%
Abnormality of the nervous system
35.3%
Abnormality of head or neck
17.6%
Abnormality of limbs
17.6%
Abnormality of the cardiovascular system
11.8%
Abnormality of the integument
11.8%
Growth abnormality
11.8%
Abnormality of the ear
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of the respiratory system
5.9%
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 immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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