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ZMYM5

Synonyms
HSPC050, MYM, ZNF198L1, ZNF237
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
22
Likely pathogenic
1
VUS
1,479
Likely benign
49
Benign
0

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on ZMYM5 gene are displayed below. The following symptoms were found in patients with a variant in ZMYM5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.8%
Abnormality of the musculoskeletal system
39.1%
Abnormality of the eye
30.4%
Growth abnormality
30.4%
Abnormality of head or neck
26.1%
Abnormality of limbs
21.7%
Abnormality of metabolism homeostasis
21.7%
Abnormality of blood and blood forming tissues
17.4%
Abnormality of the integument
17.4%
Abnormality of the digestive system
13%
Abnormality of the ear
13%
Abnormality of the endocrine system
8.7%
Abnormality of the immune system
8.7%
Abnormality of the cardiovascular system
4.3%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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