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ANKRD30B

Synonyms
NY-BR-1.1
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
71
Likely pathogenic
0
VUS
12,332
Likely benign
3,931
Benign
0

Patient phenotypes

Proportions of phenotypes among 67 patients carring pathogenic or likely pathogenic variants on ANKRD30B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.8%
Abnormality of the eye
31.3%
Abnormality of the musculoskeletal system
31.3%
Abnormality of head or neck
25.4%
Abnormality of the ear
17.9%
Abnormality of the genitourinary system
14.9%
Growth abnormality
13.4%
Abnormality of limbs
11.9%
Abnormality of the cardiovascular system
11.9%
Abnormality of the integument
7.5%
Abnormality of the digestive system
6%
Neoplasm
6%
Abnormality of the respiratory system
4.5%
Abnormality of prenatal development or birth
3%
Abnormal cellular phenotype
1.5%
Abnormality of blood and blood-forming tissues
1.5%
Abnormality of the breast
1.5%
Abnormality of the endocrine system
1.5%
Abnormality of the immune system
1.5%
Constitutional symptom
1.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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