Dilated cardiomyopathy 1NN: genes and variants
Dilated cardiomyopathy 1NN is linked to 1 analyzed protein (RAF1). 5 DNA variants are known to cause it; 12 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dilated cardiomyopathy 1NN
RAF1: RAF proto-oncogene serine/threonine-protein kinase
It relays activated RAS signals to MEK and ERK and also participates in survival and developmental pathways. Germline activating variants cause Noonan syndrome and related RASopathies, while oncogenic activation contributes to selected cancers.
5 disease-causing and 12 uncertain variants in RAF1 are linked to Dilated cardiomyopathy 1NN.
Known disease-causing variants in Dilated cardiomyopathy 1NN
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RAF1 G169R | 169 | Phorbol-ester/DAG-type | Disease-causing (★★) |
| RAF1 P261L | 261 | Disease-causing (★★) | |
| RAF1 V263D | 263 | Disease-causing (★★) | |
| RAF1 F475L | 475 | Protein kinase | Disease-causing (★★) |
| RAF1 L603P | 603 | Protein kinase | Disease-causing |
Same protein, different disease
- RASopathy is also caused by RAF1 variants; they fall partly in the same places as the Dilated cardiomyopathy 1NN variants (28 disease-causing).
- Noonan syndrome is also caused by RAF1 variants; they fall partly in the same places as the Dilated cardiomyopathy 1NN variants (14 disease-causing).
- Noonan syndrome and Noonan-related syndrome is also caused by RAF1 variants; they fall partly in the same places as the Dilated cardiomyopathy 1NN variants (4 disease-causing).
Diseases related to Dilated cardiomyopathy 1NN
- RASopathy, also linked to RAF1
- Noonan syndrome, also linked to RAF1
- Noonan syndrome and Noonan-related syndrome, also linked to RAF1
- LEOPARD syndrome 1, also linked to RAF1
Frequently asked questions
Which genes are linked to Dilated cardiomyopathy 1NN?
In CATVariant, Dilated cardiomyopathy 1NN is linked to 1 analyzed protein: RAF1 (RAF proto-oncogene serine/threonine-protein kinase).
How many genetic variants are linked to Dilated cardiomyopathy 1NN?
17 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dilated cardiomyopathy 1NN 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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