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LRRC31

Synonyms
HEL-S-293
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
14
Likely pathogenic
10
VUS
3,737
Likely benign
819
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carring pathogenic or likely pathogenic variants on LRRC31 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
52.2%
Abnormality of the eye
47.8%
Abnormality of the nervous system
43.5%
Abnormality of head or neck
34.8%
Abnormality of limbs
13%
Abnormality of the integument
13%
Growth abnormality
13%
Abnormality of the cardiovascular system
8.7%
Abnormality of the ear
8.7%
Abnormality of the breast
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the genitourinary system
4.3%
Abnormality of the respiratory system
4.3%
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 endocrine 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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