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UFL1

Synonyms
KIAA0776, Maxer, NLBP, RCAD
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
30
Likely pathogenic
0
VUS
11,470
Likely benign
1,011
Benign
0

Patient Phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on UFL1 gene are displayed below. The following symptoms were found in patients with a variant in UFL1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
57.7%
Constitutional symptom
19.2%
Abnormality of the eye
11.5%
Abnormality of the integument
11.5%
Abnormality of the nervous system
11.5%
Abnormality of blood and blood forming tissues
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the ear
7.7%
Abnormality of the musculoskeletal system
7.7%
Abnormality of head or neck
3.8%
Abnormality of limbs
3.8%
Abnormality of metabolism homeostasis
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the immune system
3.8%
Neoplasm
3.8%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%

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