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LEKR1

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
21
Likely pathogenic
43
VUS
3,655
Likely benign
539
Benign
0

Patient Phenotypes

Proportions of phenotypes among 64 patients carrying pathogenic or likely pathogenic variants on LEKR1 gene are displayed below. The following symptoms were found in patients with a variant in LEKR1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.6%
Abnormality of the eye
34.4%
Abnormality of the musculoskeletal system
29.7%
Abnormality of head or neck
28.1%
Abnormality of the cardiovascular system
21.9%
Abnormality of the immune system
18.8%
Growth abnormality
17.2%
Abnormality of the integument
15.6%
Abnormality of limbs
10.9%
Abnormality of metabolism homeostasis
10.9%
Abnormality of the digestive system
9.4%
Abnormality of the genitourinary system
9.4%
Abnormality of the ear
7.8%
Abnormality of blood and blood forming tissues
6.3%
Abnormality of the endocrine system
6.3%
Abnormal cellular phenotype
3.1%
Abnormality of the respiratory system
3.1%
Constitutional symptom
3.1%
Abnormality of prenatal development or birth
1.6%
Abnormality of the thoracic cavity
1.6%
Neoplasm
1.6%
Abnormality of the breast
0%
Abnormality of the voice
0%

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