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LRRC37A2

Synonyms
LRRC37
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
56
Likely pathogenic
147
VUS
20,448
Likely benign
5,836
Benign
0

Patient phenotypes

Proportions of phenotypes among 200 patients carrying pathogenic or likely pathogenic variants on LRRC37A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
31.5%
Abnormality of the nervous system
25.5%
Abnormality of the musculoskeletal system
14.5%
Abnormality of the genitourinary system
10%
Abnormality of the ear
8.5%
Abnormality of head or neck
8%
Abnormality of the eye
7%
Abnormality of the immune system
7%
Abnormality of the digestive system
6.5%
Abnormality of blood and blood-forming tissues
6%
Growth abnormality
5.5%
Abnormality of the endocrine system
4.5%
Abnormality of the integument
4.5%
Abnormality of limbs
3%
Abnormality of prenatal development or birth
2.5%
Neoplasm
2%
Abnormal cellular phenotype
1%
Abnormality of the respiratory system
1%
Constitutional symptom
1%
Abnormality of the breast
0.5%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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