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MYLK2

Synonyms
KMLC, MLCK, MLCK2, skMLCK
External resources
Summary
This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle.

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
0
Likely pathogenic
0
VUS
1,914
Likely benign
1,116
Benign
2,846

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MYLK2 gene.

Phenotype class
Patients in 3billion (%)

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