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UEVLD

Synonyms
ATTP, UEV3
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
16
Likely pathogenic
42
VUS
4,979
Likely benign
648
Benign
0

Patient phenotypes

Proportions of phenotypes among 58 patients carring pathogenic or likely pathogenic variants on UEVLD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.2%
Abnormality of the musculoskeletal system
25.9%
Abnormality of head or neck
19%
Abnormality of the cardiovascular system
19%
Abnormality of the eye
17.2%
Abnormality of the ear
13.8%
Abnormality of blood and blood-forming tissues
8.6%
Growth abnormality
8.6%
Abnormality of the genitourinary system
6.9%
Abnormality of the integument
6.9%
Abnormality of prenatal development or birth
3.4%
Constitutional symptom
3.4%
Abnormality of limbs
1.7%
Abnormality of the breast
1.7%
Abnormality of the digestive system
1.7%
Abnormality of the endocrine system
1.7%
Abnormality of the immune system
1.7%
Neoplasm
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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