Café-au-lait macules with pulmonary stenosis: genes and variants
Café-au-lait macules with pulmonary stenosis is linked to 1 analyzed protein (NF1). 2 DNA variants are known to cause it; 6 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 Café-au-lait macules with pulmonary stenosis
NF1: Neurofibromin
It accelerates conversion of active RAS-GTP to inactive RAS-GDP and therefore restrains RAS-MAPK signaling. Loss-of-function variants cause neurofibromatosis type 1 with neurofibromas, pigmentary features, learning difficulties, and increased tumor risk.
2 disease-causing and 6 uncertain variants in NF1 are linked to Café-au-lait macules with pulmonary stenosis.
Known disease-causing variants in Café-au-lait macules with pulmonary stenosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NF1 V917D | 917 | Disease-causing (★★) | |
| NF1 F1247I | 1247 | Disease-causing (★) |
Same protein, different disease
- Neurofibromatosis is also caused by NF1 variants; they fall mostly in different places as the Café-au-lait macules with pulmonary stenosis variants (51 disease-causing).
Diseases related to Café-au-lait macules with pulmonary stenosis
- Neurofibromatosis, also linked to NF1
- Juvenile myelomonocytic leukemia, also linked to NF1
- Melanoma, also linked to NF1
- Neurofibromatosis-Noonan syndrome, also linked to NF1
Frequently asked questions
Which genes are linked to Café-au-lait macules with pulmonary stenosis?
In CATVariant, Café-au-lait macules with pulmonary stenosis is linked to 1 analyzed protein: NF1 (Neurofibromin).
How many genetic variants are linked to Café-au-lait macules with pulmonary stenosis?
9 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Café-au-lait macules with pulmonary stenosis 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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