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ZAR1

Synonyms
Z3CXXC6
External resources
Summary
This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility.

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
7
Likely pathogenic
0
VUS
1,493
Likely benign
70
Benign
0

Patient Phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on ZAR1 gene are displayed below. The following symptoms were found in patients with a variant in ZAR1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the genitourinary system
28.6%
Abnormality of limbs
14.3%
Abnormality of prenatal development or birth
14.3%
Abnormality of the eye
14.3%
Abnormality of the integument
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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