Home > Gene Browser > ANKRD30BL

ANKRD30BL

Synonyms
ANKRD30BP3, NCRNA00164
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
67
Likely pathogenic
0
VUS
67,545
Likely benign
1,562
Benign
0

Patient phenotypes

Proportions of phenotypes among 53 patients carring pathogenic or likely pathogenic variants on ANKRD30BL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.3%
Abnormality of the musculoskeletal system
32.1%
Abnormality of head or neck
26.4%
Abnormality of the cardiovascular system
24.5%
Abnormality of the eye
17%
Abnormality of limbs
13.2%
Abnormality of the ear
13.2%
Abnormality of the genitourinary system
13.2%
Growth abnormality
13.2%
Abnormality of the integument
11.3%
Abnormality of the immune system
9.4%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of the endocrine system
7.5%
Abnormality of the digestive system
1.9%
Abnormality of the respiratory system
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes