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ENKD1

Synonyms
C16orf48, DAKV6410, FBB11
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
16
Likely pathogenic
80
VUS
1,766
Likely benign
209
Benign
0

Patient phenotypes

Proportions of phenotypes among 95 patients carring pathogenic or likely pathogenic variants on ENKD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
48.4%
Abnormality of the nervous system
42.1%
Abnormality of the musculoskeletal system
29.5%
Abnormality of head or neck
23.2%
Growth abnormality
15.8%
Abnormality of the integument
13.7%
Abnormality of the cardiovascular system
11.6%
Abnormality of limbs
9.5%
Abnormality of the ear
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the endocrine system
6.3%
Abnormality of the immune system
6.3%
Abnormality of the digestive system
4.2%
Abnormality of prenatal development or birth
3.2%
Abnormality of the respiratory system
2.1%
Abnormality of blood and blood-forming tissues
1.1%
Abnormality of the breast
1.1%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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