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UNC93A

Synonyms
Unc-93A, dJ366N23.1, dJ366N23.2
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
24
Likely pathogenic
1,023
VUS
11,129
Likely benign
125
Benign
0

Patient Phenotypes

Proportions of phenotypes among 1041 patients carrying pathogenic or likely pathogenic variants on UNC93A gene are displayed below. The following symptoms were found in patients with a variant in UNC93A. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.2%
Abnormality of the musculoskeletal system
35.9%
Abnormality of head or neck
30.9%
Abnormality of the eye
25.3%
Abnormality of the cardiovascular system
19%
Abnormality of the ear
18.7%
Growth abnormality
15.4%
Abnormality of the integument
15.2%
Abnormality of limbs
13.7%
Abnormality of the genitourinary system
12.3%
Abnormality of the digestive system
11.5%
Abnormality of metabolism homeostasis
9.2%
Abnormality of the immune system
7.5%
Abnormality of blood and blood forming tissues
6.5%
Abnormality of the respiratory system
6.1%
Abnormality of the endocrine system
3.1%
Abnormality of prenatal development or birth
2.4%
Neoplasm
2%
Abnormality of the breast
1.2%
Constitutional symptom
1.1%
Abnormality of the voice
0.8%
Abnormal cellular phenotype
0.6%
Abnormality of the thoracic cavity
0%

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