Home > Gene Browser > IQSEC3

IQSEC3

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
540
Likely pathogenic
96
VUS
11,594
Likely benign
1,391
Benign
0

Patient phenotypes

Proportions of phenotypes among 625 patients carring pathogenic or likely pathogenic variants on IQSEC3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.6%
Abnormality of the eye
35.4%
Abnormality of the musculoskeletal system
28.2%
Abnormality of head or neck
20.2%
Abnormality of the cardiovascular system
16.3%
Abnormality of the ear
11.5%
Abnormality of the integument
10.9%
Abnormality of limbs
10.1%
Abnormality of the genitourinary system
9.6%
Growth abnormality
9.1%
Abnormality of the immune system
6.9%
Abnormality of the digestive system
6.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the respiratory system
3.8%
Abnormality of the endocrine system
3.2%
Neoplasm
3.2%
Abnormality of prenatal development or birth
2.2%
Constitutional symptom
1.9%
Abnormal cellular phenotype
1.1%
Abnormality of the breast
0.6%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

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