Out of the 24 patients, 9 (37.5%) carried pathogenic variants (2 SDHB, 7 NF1) and in one patient a novel VHL variant, classified as VUS was detected (VHL: p.36_37insSGPEE) in a young patient presenting with carotid body paraganglioma. This evidence concerns the gene NF1 and carotid body paraganglioma.