Congenital heart defects, multiple types, 5: genes and variants
Congenital heart defects, multiple types, 5 is linked to 1 analyzed protein (GATA5). 4 DNA variants are known to cause it; 18 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: congenital heart defects, multiple types
Genes linked to Congenital heart defects, multiple types, 5
GATA5: Transcription factor GATA-5
It contributes to transcriptional control of cardiovascular and endodermal development. Rare pathogenic variants have been associated with congenital heart defects and atrial fibrillation, although the strength of evidence varies by variant and phenotype.
4 disease-causing and 18 uncertain variants in GATA5 are linked to Congenital heart defects, multiple types, 5.
Known disease-causing variants in Congenital heart defects, multiple types, 5
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GATA5 V190A | 190 | GATA-type 1 | Disease-causing |
| GATA5 L199V | 199 | GATA-type 1 | Disease-causing |
| GATA5 W200G | 200 | GATA-type 1 | Disease-causing |
| GATA5 Y16D | 16 | Disease-causing |
Frequently asked questions
Which genes are linked to Congenital heart defects, multiple types, 5?
In CATVariant, Congenital heart defects, multiple types, 5 is linked to 1 analyzed protein: GATA5 (Transcription factor GATA-5).
How many genetic variants are linked to Congenital heart defects, multiple types, 5?
29 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 18 are of uncertain significance or have conflicting reports.
Which uncertain variants in Congenital heart defects, multiple types, 5 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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