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PPP1R37

Synonyms
LRRC68
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
65
Likely pathogenic
1
VUS
2,497
Likely benign
3,687
Benign
0

Patient phenotypes

Proportions of phenotypes among 59 patients carrying pathogenic or likely pathogenic variants on PPP1R37 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.9%
Abnormality of the musculoskeletal system
23.7%
Abnormality of head or neck
22%
Abnormality of the ear
16.9%
Growth abnormality
16.9%
Abnormality of the cardiovascular system
15.3%
Abnormality of the digestive system
13.6%
Abnormality of the eye
13.6%
Abnormality of the respiratory system
13.6%
Abnormality of the immune system
11.9%
Abnormality of the genitourinary system
10.2%
Abnormality of the integument
8.5%
Abnormality of limbs
6.8%
Neoplasm
6.8%
Abnormality of blood and blood-forming tissues
5.1%
Abnormal cellular phenotype
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of prenatal development or birth
1.7%
Abnormality of the breast
1.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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