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FRYL

Synonyms
AF4p12, KIAA0826, MOR2
External resources
Summary
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Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
21
Likely pathogenic
0
VUS
8,149
Likely benign
19,358
Benign
750

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.8%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
18.8%
Abnormality of the ear
18.8%
Abnormality of the eye
18.8%
Abnormality of the genitourinary system
18.8%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the integument
12.5%
Growth abnormality
12.5%
Abnormality of limbs
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the respiratory system
6.3%
Abnormal cellular phenotype
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 immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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