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KIF20A

Synonyms
MKLP2, RAB6KIFL, RCM6
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
0
VUS
2,911
Likely benign
1,982
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on KIF20A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of the integument
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the nervous system
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of head or neck
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the ear
12.5%
Abnormality of the endocrine system
12.5%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive 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%
Growth abnormality
0%
Neoplasm
0%

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