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MGAT4D

Synonyms
GnT1IP
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
24
Likely pathogenic
70
VUS
2,221
Likely benign
1,300
Benign
0

Patient Phenotypes

Proportions of phenotypes among 94 patients carrying pathogenic or likely pathogenic variants on MGAT4D gene are displayed below. The following symptoms were found in patients with a variant in MGAT4D. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.5%
Abnormality of the eye
36.2%
Abnormality of the musculoskeletal system
33%
Abnormality of head or neck
21.3%
Abnormality of limbs
16%
Abnormality of the cardiovascular system
12.8%
Abnormality of the digestive system
12.8%
Abnormality of the ear
12.8%
Abnormality of metabolism homeostasis
11.7%
Abnormality of the immune system
11.7%
Abnormality of the integument
9.6%
Growth abnormality
9.6%
Abnormality of blood and blood forming tissues
6.4%
Abnormality of the genitourinary system
5.3%
Abnormality of the endocrine system
4.3%
Abnormality of the respiratory system
3.2%
Constitutional symptom
3.2%
Neoplasm
3.2%
Abnormal cellular phenotype
2.1%
Abnormality of prenatal development or birth
2.1%
Abnormality of the breast
1.1%
Abnormality of the voice
1.1%
Abnormality of the thoracic cavity
0%

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