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KRBA2

Synonyms
-
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
17
Likely pathogenic
58
VUS
753
Likely benign
9
Benign
0

Patient phenotypes

Proportions of phenotypes among 75 patients carring pathogenic or likely pathogenic variants on KRBA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
49.3%
Abnormality of the musculoskeletal system
36%
Abnormality of head or neck
32%
Abnormality of the eye
26.7%
Growth abnormality
22.7%
Abnormality of the cardiovascular system
20%
Abnormality of limbs
18.7%
Abnormality of the integument
16%
Abnormality of the digestive system
13.3%
Abnormality of the genitourinary system
12%
Abnormality of blood and blood-forming tissues
10.7%
Abnormality of the ear
8%
Abnormality of the endocrine system
6.7%
Abnormality of the immune system
6.7%
Abnormality of prenatal development or birth
4%
Abnormality of the respiratory system
4%
Abnormality of the voice
2.7%
Abnormality of the breast
1.3%
Neoplasm
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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