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ZSCAN31

Synonyms
ZNF20-Lp, ZNF310P, ZNF323
External resources
Summary
This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants.

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
15
Likely pathogenic
123
VUS
708
Likely benign
390
Benign
0

Patient Phenotypes

Proportions of phenotypes among 138 patients carrying pathogenic or likely pathogenic variants on ZSCAN31 gene are displayed below. The following symptoms were found in patients with a variant in ZSCAN31. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.1%
Abnormality of the musculoskeletal system
23.9%
Abnormality of the cardiovascular system
19.6%
Abnormality of the eye
17.4%
Abnormality of head or neck
16.7%
Abnormality of the genitourinary system
14.5%
Growth abnormality
13.8%
Abnormality of the ear
11.6%
Abnormality of blood and blood forming tissues
8%
Abnormality of limbs
8%
Abnormality of the digestive system
7.2%
Abnormality of the integument
7.2%
Abnormality of metabolism homeostasis
6.5%
Abnormality of prenatal development or birth
5.8%
Abnormality of the immune system
5.1%
Abnormality of the endocrine system
4.3%
Neoplasm
4.3%
Constitutional symptom
2.2%
Abnormality of the respiratory system
1.4%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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