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AXDND1

Synonyms
C1orf125
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
36
Likely pathogenic
48
VUS
7,524
Likely benign
1,004
Benign
0

Patient phenotypes

Proportions of phenotypes among 84 patients carring pathogenic or likely pathogenic variants on AXDND1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
52.4%
Abnormality of the nervous system
36.9%
Abnormality of the musculoskeletal system
26.2%
Abnormality of head or neck
21.4%
Abnormality of the integument
15.5%
Abnormality of the genitourinary system
10.7%
Abnormality of the immune system
8.3%
Abnormality of limbs
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the ear
7.1%
Abnormality of blood and blood-forming tissues
6%
Growth abnormality
6%
Abnormality of the respiratory system
3.6%
Neoplasm
3.6%
Abnormality of the voice
2.4%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0%
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%

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