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MAZ

Synonyms
PUR1, Pur-1, SAF-1, SAF-2, SAF-3, ZF87, ZNF801, Zif87
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
6
Likely pathogenic
0
VUS
4,915
Likely benign
76
Benign
0

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on MAZ gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of limbs
16.7%
Abnormality of the endocrine system
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of the nervous system
16.7%
Abnormality of the respiratory system
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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