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NXPE2

Synonyms
FAM55B
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
26
Likely pathogenic
0
VUS
1,191
Likely benign
334
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on NXPE2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.5%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the nervous system
30.8%
Abnormality of head or neck
19.2%
Abnormality of the cardiovascular system
19.2%
Abnormality of the ear
19.2%
Abnormality of the integument
15.4%
Abnormality of limbs
11.5%
Abnormality of the digestive system
7.7%
Growth abnormality
7.7%
Neoplasm
7.7%
Abnormal cellular phenotype
3.8%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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