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GK5

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
14
Likely pathogenic
708
VUS
2,068
Likely benign
338
Benign
0

Patient Phenotypes

Proportions of phenotypes among 722 patients carrying pathogenic or likely pathogenic variants on GK5 gene are displayed below. The following symptoms were found in patients with a variant in GK5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
31.2%
Abnormality of head or neck
25.6%
Abnormality of the cardiovascular system
25.5%
Abnormality of the eye
25.3%
Abnormality of the ear
14.5%
Growth abnormality
14.4%
Abnormality of the integument
13%
Abnormality of the genitourinary system
12.3%
Abnormality of limbs
10.9%
Abnormality of metabolism homeostasis
10.9%
Abnormality of the digestive system
7.8%
Abnormality of the immune system
6.1%
Abnormality of the respiratory system
5.5%
Abnormality of the endocrine system
5.1%
Abnormality of prenatal development or birth
3%
Abnormality of blood and blood forming tissues
2.9%
Neoplasm
2.8%
Constitutional symptom
1.5%
Abnormality of the breast
0.8%
Abnormality of the voice
0.8%
Abnormal cellular phenotype
0.4%
Abnormality of the thoracic cavity
0%

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