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MEGF11

Synonyms
-
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
14
Likely pathogenic
1
VUS
7,542
Likely benign
692
Benign
0

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on MEGF11 gene are displayed below. The following symptoms were found in patients with a variant in MEGF11. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the ear
26.7%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
20%
Growth abnormality
20%
Abnormality of the eye
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of blood and blood forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of prenatal development or birth
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the integument
6.7%
Abnormality of the respiratory system
6.7%
Constitutional symptom
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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