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MLST8

Synonyms
GBL, GbetaL, LST8, POP3, WAT1
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
29
Likely pathogenic
0
VUS
4,791
Likely benign
212
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on MLST8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
48.3%
Abnormality of the eye
34.5%
Abnormality of the nervous system
34.5%
Abnormality of the cardiovascular system
20.7%
Abnormality of the ear
20.7%
Abnormality of head or neck
17.2%
Abnormality of the integument
17.2%
Abnormality of limbs
13.8%
Abnormality of the digestive system
13.8%
Abnormality of the immune system
10.3%
Growth abnormality
10.3%
Abnormality of blood and blood-forming tissues
6.9%
Abnormality of the breast
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the genitourinary system
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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