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EEF2KMT

Synonyms
EFM3, FAM86A, SB153, eEF2-KMT
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
82
Likely pathogenic
0
VUS
7,923
Likely benign
3,942
Benign
0

Patient Phenotypes

Proportions of phenotypes among 82 patients carrying pathogenic or likely pathogenic variants on EEF2KMT gene are displayed below. The following symptoms were found in patients with a variant in EEF2KMT. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
54.9%
Abnormality of the nervous system
32.9%
Abnormality of the musculoskeletal system
26.8%
Abnormality of the cardiovascular system
7.3%
Abnormality of the ear
7.3%
Growth abnormality
7.3%
Abnormality of head or neck
6.1%
Abnormality of limbs
3.7%
Abnormality of the genitourinary system
3.7%
Abnormality of the integument
3.7%
Abnormality of blood and blood forming tissues
2.4%
Abnormality of the immune system
2.4%
Abnormality of metabolism homeostasis
1.2%
Abnormality of the digestive system
1.2%
Abnormality of the respiratory system
1.2%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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