TMEM260 Chromosome 14
Transmembrane protein 260
Upload your DNA to see your personal genotypes for variants in TMEM260.
What This Gene Does
Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in protein maturation. Is active in endoplasmic reticulum membrane. Implicated in T-cell non-Hodgkin lymphoma; non-Hodgkin lymphoma; and stomach cancer. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Structural heart defects and renal anomalies syndrome
Inborn genetic diseases
TMEM260-related disorder
Type I truncus arteriosus
Key Variants
RS568060358
Conflicting classifications of pathogenicity
Health Risk
RS568247949
Conflicting classifications of pathogenicity
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
RS61732702
Conflicting classifications of pathogenicity
Inborn genetic diseases, TMEM260-related disorder, Inborn genetic diseases
Health Risk
RS1340644609
Likely pathogenic
Health Risk
RS1353172878
Likely pathogenic
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
RS141599092
Likely pathogenic
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
RS1566561439
Likely pathogenic
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
RS17776256
Likely pathogenic
Health Risk
RS1888745759
Likely pathogenic
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
RS2139626950
Likely pathogenic
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
RS2503448012
Likely pathogenic
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
RS761443112
Likely pathogenic
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS568060358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS568247949 | Health Risk | Conflicting classifications of pathogenicity | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS61732702 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TMEM260-related disorder, Inborn genetic diseases |
| RS1340644609 | Health Risk | Likely pathogenic | — |
| RS1353172878 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS141599092 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS1566561439 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS17776256 | Health Risk | Likely pathogenic | — |
| RS1888745759 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS2139626950 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS2503448012 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS761443112 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS766333701 | Health Risk | Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS1085307449 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS1351329464 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Type I truncus arteriosus, Structural heart defects and renal anomalies syndrome |
| RS1385305489 | Health Risk | Pathogenic | — |
| RS1885455089 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS2139591770 | Health Risk | Pathogenic | — |
| RS2503562017 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS2503604772 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS2503654780 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS375476463 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS747632686 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS773888234 | Health Risk | Pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS201956469 | Health Risk | Pathogenic/Likely pathogenic | Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |