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DCAKD

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
8
Likely pathogenic
32
VUS
3,729
Likely benign
24
Benign
0

Patient phenotypes

Proportions of phenotypes among 40 patients carring pathogenic or likely pathogenic variants on DCAKD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
60%
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
12.5%
Abnormality of the ear
12.5%
Abnormality of the digestive system
10%
Abnormality of the integument
10%
Abnormality of the cardiovascular system
7.5%
Growth abnormality
7.5%
Abnormality of the immune system
5%
Abnormality of the respiratory system
5%
Abnormal cellular phenotype
2.5%
Abnormality of blood and blood-forming tissues
2.5%
Abnormality of limbs
2.5%
Abnormality of the genitourinary system
2.5%
Neoplasm
2.5%
Abnormality of metabolism homeostasis
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%
Constitutional symptom
0%

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