MED12L Chromosome 3
Mediator complex subunit 12L
Upload your DNA to see your personal genotypes for variants in MED12L.
What This Gene Does
The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Mediator complex
Locus Type
gene with protein product
Location
3q25.1
Ensembl
ENSG00000144893
Associated Conditions (5)
Inborn genetic diseases
Nizon-Isidor syndrome
See cases
MED12L-related disorder
Intellectual disability
Key Variants
RS141691317
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189535205
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2148981349
Conflicting classifications of pathogenicity
Nizon-Isidor syndrome, Nizon-Isidor syndrome
Health Risk
RS2473553457
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS564510830
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS768221380
Conflicting classifications of pathogenicity
MED12L-related disorder, Inborn genetic diseases, MED12L-related disorder
Health Risk
RS772438632
Conflicting classifications of pathogenicity
Nizon-Isidor syndrome, Inborn genetic diseases, Nizon-Isidor syndrome
Health Risk
RS1553815325
Likely pathogenic
Health Risk
RS1560069336
Likely pathogenic
Nizon-Isidor syndrome, Nizon-Isidor syndrome
Health Risk
RS1724263784
Likely pathogenic
Nizon-Isidor syndrome, Nizon-Isidor syndrome
Health Risk
RS2473572861
Likely pathogenic
Nizon-Isidor syndrome, Nizon-Isidor syndrome
Health Risk
RS2473757305
Likely pathogenic
Nizon-Isidor syndrome, Nizon-Isidor syndrome
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141691317 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189535205 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2148981349 | Health Risk | Conflicting classifications of pathogenicity | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2473553457 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS564510830 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS768221380 | Health Risk | Conflicting classifications of pathogenicity | MED12L-related disorder, Inborn genetic diseases, MED12L-related disorder |
| RS772438632 | Health Risk | Conflicting classifications of pathogenicity | Nizon-Isidor syndrome, Inborn genetic diseases, Nizon-Isidor syndrome |
| RS1553815325 | Health Risk | Likely pathogenic | — |
| RS1560069336 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS1724263784 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2473572861 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2473757305 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2473757315 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2474008510 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2474225919 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS2530392269 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS878982061 | Health Risk | Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS1559855453 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1560103306 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1560108090 | Health Risk | Pathogenic | Intellectual disability, Nizon-Isidor syndrome, Intellectual disability |
| RS1560115921 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1711989766 | Health Risk | Pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS1723551652 | Health Risk | Pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |
| RS1755452892 | Health Risk | Pathogenic | — |
| RS1756333400 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2149096532 | Health Risk | Pathogenic/Likely pathogenic | Nizon-Isidor syndrome, Nizon-Isidor syndrome |