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NBPF11

Synonyms
NBPF24
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
25
Likely pathogenic
12
VUS
24,875
Likely benign
9
Benign
0

Patient Phenotypes

Proportions of phenotypes among 35 patients carrying pathogenic or likely pathogenic variants on NBPF11 gene are displayed below. The following symptoms were found in patients with a variant in NBPF11. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the cardiovascular system
22.9%
Abnormality of the musculoskeletal system
20%
Abnormality of head or neck
17.1%
Abnormality of the ear
14.3%
Abnormality of the eye
11.4%
Abnormality of the genitourinary system
11.4%
Growth abnormality
11.4%
Abnormality of the integument
8.6%
Abnormality of blood and blood forming tissues
5.7%
Abnormality of metabolism homeostasis
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of limbs
2.9%
Abnormality of the digestive system
2.9%
Neoplasm
2.9%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
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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