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MZB1

Synonyms
MEDA-7, PACAP, pERp1
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
13
Likely pathogenic
3
VUS
1,694
Likely benign
455
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on MZB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the ear
31.3%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the eye
18.8%
Abnormality of the genitourinary system
18.8%
Growth abnormality
18.8%
Abnormality of limbs
12.5%
Abnormality of the integument
12.5%
Abnormality of the digestive system
6.3%
Abnormality of the immune system
6.3%
Abnormality of the voice
6.3%
Constitutional symptom
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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