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MYLK4

Synonyms
SgK085
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
32
Likely pathogenic
276
VUS
3,132
Likely benign
227
Benign
0

Patient phenotypes

Proportions of phenotypes among 308 patients carring pathogenic or likely pathogenic variants on MYLK4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.4%
Abnormality of the musculoskeletal system
19.8%
Abnormality of the cardiovascular system
17.5%
Abnormality of head or neck
16.9%
Abnormality of the ear
14%
Abnormality of the eye
12.3%
Abnormality of the genitourinary system
8.4%
Growth abnormality
8.1%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the digestive system
6.8%
Abnormality of limbs
4.9%
Abnormality of the integument
4.9%
Abnormality of the immune system
4.5%
Abnormality of prenatal development or birth
3.9%
Abnormality of the endocrine system
3.6%
Abnormality of the respiratory system
3.2%
Neoplasm
2.9%
Constitutional symptom
1%
Abnormal cellular phenotype
0.3%
Abnormality of the breast
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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