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IKBIP

Synonyms
IKIP
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
28
Likely pathogenic
0
VUS
4,446
Likely benign
4
Benign
0

Patient Phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on IKBIP gene are displayed below. The following symptoms were found in patients with a variant in IKBIP. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.3%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
39.3%
Abnormality of the ear
25%
Growth abnormality
25%
Abnormality of the eye
21.4%
Abnormality of limbs
17.9%
Abnormality of metabolism homeostasis
10.7%
Abnormality of the cardiovascular system
10.7%
Abnormality of the digestive system
10.7%
Abnormality of the genitourinary system
10.7%
Abnormality of the integument
10.7%
Abnormality of the respiratory system
7.1%
Abnormality of the immune system
3.6%
Constitutional symptom
3.6%
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 thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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