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MAN2C1

Synonyms
MAN6A8, MANA, MANA1
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
52
Likely pathogenic
131
VUS
11,818
Likely benign
47
Benign
0

Patient Phenotypes

Proportions of phenotypes among 182 patients carrying pathogenic or likely pathogenic variants on MAN2C1 gene are displayed below. The following symptoms were found in patients with a variant in MAN2C1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44%
Abnormality of the musculoskeletal system
35.2%
Abnormality of head or neck
29.1%
Abnormality of the cardiovascular system
22%
Abnormality of the ear
19.8%
Abnormality of the eye
19.8%
Growth abnormality
18.7%
Abnormality of limbs
18.1%
Abnormality of the genitourinary system
14.8%
Abnormality of the integument
11%
Abnormality of metabolism homeostasis
10.4%
Abnormality of the digestive system
7.1%
Abnormality of prenatal development or birth
6.6%
Abnormality of the immune system
5.5%
Abnormality of the respiratory system
4.9%
Abnormality of blood and blood forming tissues
3.8%
Abnormality of the endocrine system
3.8%
Neoplasm
2.2%
Abnormality of the breast
1.6%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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