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B3GNTL1

Synonyms
3-Gn-T8, B3GNT8, BGnT-8, beta-1, beta3Gn-T8, beta3GnTL1
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
16
Likely pathogenic
0
VUS
3,897
Likely benign
326
Benign
0

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on B3GNTL1 gene are displayed below. The following symptoms were found in patients with a variant in B3GNTL1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the eye
33.3%
Abnormality of head or neck
26.7%
Abnormality of the ear
26.7%
Abnormality of the musculoskeletal system
26.7%
Abnormality of limbs
20%
Abnormality of the integument
20%
Abnormality of the immune system
13.3%
Growth abnormality
13.3%
Abnormality of blood and blood forming tissues
6.7%
Abnormality of metabolism homeostasis
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the endocrine system
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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