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IGSF22

Synonyms
IGFN2
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
7,755
Likely benign
3,706
Benign
0

Patient Phenotypes

Proportions of phenotypes among 64 patients carrying pathogenic or likely pathogenic variants on IGSF22 gene are displayed below. The following symptoms were found in patients with a variant in IGSF22. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51.6%
Abnormality of the musculoskeletal system
39.1%
Abnormality of head or neck
31.3%
Abnormality of the eye
31.3%
Abnormality of limbs
21.9%
Growth abnormality
21.9%
Abnormality of the ear
15.6%
Abnormality of the genitourinary system
14.1%
Abnormality of the integument
12.5%
Abnormality of the cardiovascular system
10.9%
Abnormality of the digestive system
10.9%
Abnormality of metabolism homeostasis
9.4%
Abnormality of the respiratory system
6.3%
Abnormality of blood and blood forming tissues
4.7%
Abnormality of the immune system
4.7%
Abnormality of prenatal development or birth
3.1%
Constitutional symptom
3.1%
Abnormality of the breast
1.6%
Abnormality of the endocrine system
1.6%
Neoplasm
1.6%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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