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KSR1

Synonyms
KSR, RSU2
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
30
Likely pathogenic
9
VUS
15,390
Likely benign
56
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on KSR1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.9%
Abnormality of the musculoskeletal system
34.5%
Abnormality of the cardiovascular system
24.1%
Abnormality of the eye
24.1%
Abnormality of head or neck
20.7%
Abnormality of the digestive system
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of the immune system
10.3%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of the breast
6.9%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of limbs
3.4%
Abnormality of the ear
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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