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ANKDD1B

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
6
Likely pathogenic
321
VUS
2,742
Likely benign
428
Benign
0

Patient phenotypes

Proportions of phenotypes among 327 patients carring pathogenic or likely pathogenic variants on ANKDD1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.4%
Abnormality of the musculoskeletal system
37.3%
Abnormality of head or neck
31.8%
Abnormality of the eye
27.5%
Growth abnormality
19.3%
Abnormality of the cardiovascular system
18.7%
Abnormality of limbs
16.5%
Abnormality of the integument
14.7%
Abnormality of the digestive system
13.8%
Abnormality of the ear
13.1%
Abnormality of the genitourinary system
10.1%
Abnormality of the immune system
7%
Abnormality of the respiratory system
6.1%
Abnormality of blood and blood-forming tissues
5.8%
Abnormality of the endocrine system
4.3%
Abnormality of prenatal development or birth
3.4%
Abnormality of the breast
1.5%
Neoplasm
1.5%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.6%
Abnormality of the voice
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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