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LMTK3

Synonyms
LMR3, PPP1R101, TYKLM3
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
97
Likely pathogenic
272
VUS
9,706
Likely benign
4,005
Benign
0

Patient phenotypes

Proportions of phenotypes among 350 patients carrying pathogenic or likely pathogenic variants on LMTK3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.3%
Abnormality of the musculoskeletal system
28.9%
Abnormality of head or neck
23.4%
Abnormality of the eye
22.6%
Abnormality of the cardiovascular system
22.3%
Growth abnormality
14.6%
Abnormality of the ear
14.3%
Abnormality of the integument
14.3%
Abnormality of limbs
12.3%
Abnormality of the genitourinary system
11.7%
Abnormality of the digestive system
8.3%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of the immune system
6.9%
Abnormality of the endocrine system
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of prenatal development or birth
2%
Abnormality of the breast
1.7%
Constitutional symptom
1.7%
Neoplasm
1.4%
Abnormal cellular phenotype
1.1%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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