Dextro-looped transposition of the great arteries: genes and variants
Explore variant evidence for Dextro-looped transposition of the great arteries across 1 analyzed protein (MED13L). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 172 variants of uncertain significance and 66 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-11. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Dextro-looped transposition of the great arteries
MED13L: Mediator of RNA polymerase II transcription subunit 13-like
A subunit of the Mediator complex, which relays signals from transcription factors to RNA polymerase II. Variants can cause a neurodevelopmental syndrome with speech and developmental delays.
2 ClinVar pathogenic / likely pathogenic and 238 uncertain variants in MED13L have source records linked to Dextro-looped transposition of the great arteries. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Dextro-looped transposition of the great arteries
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MED13L D860G | 860 | Pathogenic / likely pathogenic (★★) | |
| MED13L P2094S | 2094 | Pathogenic / likely pathogenic (★★) |
Same protein, different disease
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome also has ClinVar records linked to MED13L variants; they fall mostly in different places as the Dextro-looped transposition of the great arteries variants (12 pathogenic / likely pathogenic).
Diseases related to Dextro-looped transposition of the great arteries
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome, also linked to MED13L
- Paediatric disorders, also linked to MED13L
- Rare genetic intellectual disability, also linked to MED13L
Frequently asked questions
Which genes have records linked to Dextro-looped transposition of the great arteries?
This view contains 1 analyzed proteins: MED13L. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 2 pathogenic or likely pathogenic variants, 172 variants of uncertain significance and 66 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 416 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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