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MZF1

Synonyms
MZF-1, MZF1B, ZFP98, ZNF42, ZSCAN6
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
49
Likely pathogenic
0
VUS
2,110
Likely benign
810
Benign
0

Patient Phenotypes

Proportions of phenotypes among 49 patients carrying pathogenic or likely pathogenic variants on MZF1 gene are displayed below. The following symptoms were found in patients with a variant in MZF1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51%
Abnormality of head or neck
44.9%
Abnormality of the musculoskeletal system
40.8%
Abnormality of the ear
34.7%
Abnormality of the eye
34.7%
Abnormality of limbs
26.5%
Growth abnormality
22.4%
Abnormality of the cardiovascular system
16.3%
Abnormality of the digestive system
16.3%
Abnormality of the integument
12.2%
Abnormality of metabolism homeostasis
10.2%
Abnormality of the genitourinary system
10.2%
Abnormality of the immune system
8.2%
Abnormality of prenatal development or birth
6.1%
Abnormality of the respiratory system
6.1%
Abnormality of blood and blood forming tissues
4.1%
Abnormality of the breast
2%
Abnormality of the voice
2%
Neoplasm
2%
Abnormal cellular phenotype
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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