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PRR14L

Synonyms
C22orf30
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
5
Likely pathogenic
6
VUS
6,018
Likely benign
961
Benign
0

Patient Phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on PRR14L gene are displayed below. The following symptoms were found in patients with a variant in PRR14L. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood forming tissues
54.5%
Abnormality of the musculoskeletal system
27.3%
Abnormality of the cardiovascular system
18.2%
Abnormality of the nervous system
18.2%
Abnormality of the ear
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of limbs
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 endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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