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MAN1C1

Synonyms
HMIC, MAN1A3, MAN1C, pp6318
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
6
Likely pathogenic
0
VUS
1,787
Likely benign
76
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on MAN1C1 gene are displayed below. The following symptoms were found in patients with a variant in MAN1C1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
33.3%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
16.7%
Abnormality of limbs
16.7%
Abnormality of prenatal development or birth
16.7%
Abnormality of the eye
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of the musculoskeletal system
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine 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%
Neoplasm
0%

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