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PI4KB

Synonyms
NPIK, PI4K-BETA, PI4K92, PI4KBETA, PI4KIII, PI4KIIIBETA, PIK4CB
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
5
Likely pathogenic
0
VUS
3,862
Likely benign
196
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on PI4KB gene are displayed below. The following symptoms were found in patients with a variant in PI4KB. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
80%
Abnormality of head or neck
60%
Abnormality of the eye
60%
Growth abnormality
60%
Abnormality of the cardiovascular system
40%
Abnormality of the integument
40%
Abnormality of the nervous system
40%
Abnormality of limbs
20%
Abnormality of metabolism homeostasis
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the immune system
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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