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SLTM

Synonyms
Met
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
9
Likely pathogenic
73
VUS
2,636
Likely benign
2,381
Benign
0

Patient phenotypes

Proportions of phenotypes among 82 patients carrying pathogenic or likely pathogenic variants on SLTM gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.9%
Abnormality of the musculoskeletal system
31.7%
Abnormality of the eye
28%
Abnormality of the cardiovascular system
20.7%
Abnormality of head or neck
19.5%
Growth abnormality
18.3%
Abnormality of limbs
13.4%
Abnormality of the ear
12.2%
Abnormality of the immune system
11%
Abnormality of the integument
9.8%
Abnormality of the digestive system
7.3%
Abnormality of the endocrine system
7.3%
Abnormal cellular phenotype
3.7%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the respiratory system
3.7%
Abnormality of prenatal development or birth
2.4%
Abnormality of the genitourinary system
2.4%
Neoplasm
2.4%
Abnormality of the thoracic cavity
1.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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