C12ORF57 Chromosome 12
Chromosome 12 open reading frame 57
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What This Gene Does
This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Associated Conditions (12)
C12orf57-related disorder
Temtamy syndrome
Clear cell carcinoma of kidney
Melanoma
Hepatocellular carcinoma
6 conditions
Global developmental delay
Abnormal corpus callosum morphology
Microphthalmia
isolated
with coloboma
Seizure
Key Variants
RS113296395
Conflicting classifications of pathogenicity
C12orf57-related disorder, C12orf57-related disorder
Health Risk
RS139068225
Conflicting classifications of pathogenicity
Temtamy syndrome, Clear cell carcinoma of kidney, Melanoma
Health Risk
RS139938808
Conflicting classifications of pathogenicity
Temtamy syndrome, C12orf57-related disorder, Temtamy syndrome
Health Risk
RS191711101
Conflicting classifications of pathogenicity
Temtamy syndrome, Temtamy syndrome
Health Risk
RS781825705
Conflicting classifications of pathogenicity
Temtamy syndrome, Temtamy syndrome
Health Risk
RS782694267
Conflicting classifications of pathogenicity
Temtamy syndrome, Temtamy syndrome
Health Risk
RS1591674794
Likely pathogenic
Health Risk
RS374836404
Likely pathogenic
Temtamy syndrome, Temtamy syndrome
Health Risk
RS782640048
Likely pathogenic
Temtamy syndrome, Temtamy syndrome, Temtamy syndrome
Health Risk
RS1114167293
Pathogenic
6 conditions, Temtamy syndrome, 6 conditions
Health Risk
RS1359105410
Pathogenic
Temtamy syndrome, Temtamy syndrome
Health Risk
RS1555146046
Pathogenic
Temtamy syndrome, Temtamy syndrome
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113296395 | Health Risk | Conflicting classifications of pathogenicity | C12orf57-related disorder, C12orf57-related disorder |
| RS139068225 | Health Risk | Conflicting classifications of pathogenicity | Temtamy syndrome, Clear cell carcinoma of kidney, Melanoma |
| RS139938808 | Health Risk | Conflicting classifications of pathogenicity | Temtamy syndrome, C12orf57-related disorder, Temtamy syndrome |
| RS191711101 | Health Risk | Conflicting classifications of pathogenicity | Temtamy syndrome, Temtamy syndrome |
| RS781825705 | Health Risk | Conflicting classifications of pathogenicity | Temtamy syndrome, Temtamy syndrome |
| RS782694267 | Health Risk | Conflicting classifications of pathogenicity | Temtamy syndrome, Temtamy syndrome |
| RS1591674794 | Health Risk | Likely pathogenic | — |
| RS374836404 | Health Risk | Likely pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS782640048 | Health Risk | Likely pathogenic | Temtamy syndrome, Temtamy syndrome, Temtamy syndrome |
| RS1114167293 | Health Risk | Pathogenic | 6 conditions, Temtamy syndrome, 6 conditions |
| RS1359105410 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS1555146046 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS1591674823 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS2542669402 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS2542670199 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS587776955 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS782335776 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS782424035 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS782435454 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS782502903 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS782784989 | Health Risk | Pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS1565574197 | Health Risk | Pathogenic/Likely pathogenic | Temtamy syndrome, Temtamy syndrome |
| RS587776954 | Health Risk | Pathogenic/Likely pathogenic | Temtamy syndrome, Global developmental delay, Abnormal corpus callosum morphology |
| RS587777698 | Health Risk | Pathogenic/Likely pathogenic | Temtamy syndrome, Temtamy syndrome |