Home > Gene Browser > DEF8

DEF8

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
27
Likely pathogenic
49
VUS
2,101
Likely benign
198
Benign
0

Patient phenotypes

Proportions of phenotypes among 33 patients carring pathogenic or likely pathogenic variants on DEF8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the integument
30.3%
Abnormality of the cardiovascular system
27.3%
Abnormality of the immune system
15.2%
Abnormality of head or neck
12.1%
Abnormality of limbs
12.1%
Abnormality of the eye
12.1%
Abnormality of the musculoskeletal system
12.1%
Growth abnormality
12.1%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Abnormality of the respiratory system
6.1%
Constitutional symptom
6.1%
Abnormality of prenatal development or birth
3%
Abnormality of the endocrine system
3%
Abnormality of the genitourinary system
3%
Neoplasm
3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

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