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L3MBTL2

Synonyms
H-l(3)mbt-l, L3MBT
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
18
Likely pathogenic
0
VUS
7,814
Likely benign
2,037
Benign
0

Patient Phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on L3MBTL2 gene are displayed below. The following symptoms were found in patients with a variant in L3MBTL2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the eye
22.2%
Abnormality of metabolism homeostasis
11.1%
Abnormality of the ear
11.1%
Abnormality of the respiratory system
11.1%
Abnormality of blood and blood forming tissues
5.6%
Abnormality of head or neck
5.6%
Abnormality of limbs
5.6%
Abnormality of prenatal development or birth
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the genitourinary system
5.6%
Abnormality of the integument
5.6%
Abnormality of the voice
5.6%
Growth abnormality
5.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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