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MFSD2B

Synonyms
SLC59A2
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
0
VUS
3,795
Likely benign
453
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on MFSD2B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40.9%
Abnormality of the nervous system
27.3%
Abnormality of the musculoskeletal system
22.7%
Abnormality of head or neck
18.2%
Abnormality of the genitourinary system
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the ear
9.1%
Abnormality of the cardiovascular system
4.5%
Abnormality of the immune system
4.5%
Abnormality of the integument
4.5%
Abnormality of the voice
4.5%
Constitutional symptom
4.5%
Growth abnormality
4.5%
Neoplasm
4.5%
Abnormal cellular phenotype
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 respiratory system
0%
Abnormality of the thoracic cavity
0%

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