POMGNT2 Chromosome 3
Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Upload your DNA to see your personal genotypes for variants in POMGNT2.
What This Gene Does
This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
O-linked N-acetylglucosaminyltransferases
Locus Type
gene with protein product
Location
3p22.1
Ensembl
ENSG00000144647
Associated Conditions (10)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type a
8
Inborn genetic diseases
POMGNT2-related disorder
concomitant exotropia
Severe hydrocephalus
Neonatal death
Muscular dystrophy-dystroglycanopathy (limb-girdle)
type C
Key Variants
RS140389725
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS142190930
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS143394182
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS146229269
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS147429438
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS150567400
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS199612856
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS200535361
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS201114442
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS201333414
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS368531523
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
RS371749889
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140389725 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS142190930 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS143394182 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS146229269 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS147429438 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS150567400 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS199612856 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS200535361 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS201114442 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS201333414 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS368531523 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS371749889 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS387907300 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS768063378 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 |
| RS774277094 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS778188247 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2528895339 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS747691921 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS771399440 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS780525490 | Health Risk | Likely pathogenic | — |
| RS879819421 | Health Risk | Likely pathogenic | — |
| RS1021357430 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS1553618354 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS1559414655 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 |
| RS2089839448 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2089842285 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2089847365 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2089853535 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2125699699 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2125700249 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2125700641 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2125700808 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2528893606 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2528899846 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS2528901921 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS387907299 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS752069645 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS1575461722 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS374042455 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS747569790 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
| RS755487513 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |