Cardiac anomalies - developmental delay - facial dysmorphism syndrome: genes and variants
Explore variant evidence for Cardiac anomalies - developmental delay - facial dysmorphism syndrome across 1 analyzed protein (MED13L). Linked ClinVar records include 12 pathogenic or likely pathogenic variants, 81 variants of uncertain significance and 21 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 Cardiac anomalies - developmental delay - facial dysmorphism syndrome
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.
12 ClinVar pathogenic / likely pathogenic and 102 uncertain variants in MED13L have source records linked to Cardiac anomalies - developmental delay - facial dysmorphism syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Cardiac anomalies - developmental delay - facial dysmorphism syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MED13L P866L | 866 | Pathogenic / likely pathogenic (★★) | |
| MED13L P869L | 869 | Pathogenic / likely pathogenic (★★) | |
| MED13L D860G | 860 | Pathogenic / likely pathogenic (★★) | |
| MED13L P879L | 879 | Pathogenic / likely pathogenic (★★) | |
| MED13L T2162M | 2162 | Pathogenic / likely pathogenic (★★) | |
| MED13L M1V | 1 | Pathogenic / likely pathogenic (★★) | |
| MED13L T867I | 867 | Pathogenic / likely pathogenic (★) | |
| MED13L G113V | 113 | Pathogenic / likely pathogenic (★) | |
| MED13L P1379L | 1379 | Pathogenic / likely pathogenic (★) | |
| MED13L Y1680C | 1680 | Pathogenic / likely pathogenic (★) | |
| MED13L E1908Q | 1908 | Pathogenic / likely pathogenic (★) | |
| MED13L T1161I | 1161 | Pathogenic / likely pathogenic (★) |
Which prediction tools work for Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- AlphaMissense: 97 out of 100
- CATVariant: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- ESM1b (LLR): 86 out of 100
Diseases related to Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Paediatric disorders, also linked to MED13L
- Rare genetic intellectual disability, also linked to MED13L
- Dextro-looped transposition of the great arteries, also linked to MED13L
Frequently asked questions
Which genes have records linked to Cardiac anomalies - developmental delay - facial dysmorphism syndrome?
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 12 pathogenic or likely pathogenic variants, 81 variants of uncertain significance and 21 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 148 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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