Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

NF1

neurofibromin 1

Chromosome
17
Cytoband
17q11.2
Variants (rsID)
92

NF1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q11.2). Its official name is “neurofibromin 1”. The reference table lists 92 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

71 reference-table entries with clinical significance.

  • rs141897690Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs142636150Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome
  • rs147327414Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis
  • rs150309802Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis
  • rs7221954Benignsingle nucleotide variant
  • rs141390152Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs143836226Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, type 1|Juvenile myelomonocytic leukemia|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome
  • rs144091165Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal|Café-au-lait macules with pulmonary stenosis
  • rs199474737Conflicting interpretationssingle nucleotide variantNeurofibromatosis, type 1
  • rs200022550Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs201047812Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal|Café-au-lait macules with pulmonary stenosis
  • rs201712827Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs368649260Conflicting interpretationssingle nucleotide variantNeurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome|Hereditary cancer-predisposing syndrome
  • rs369345045Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs371581213Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, familial spinal|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, type 1
  • rs747307832Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs756653022Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs757843283Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs765425127Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal|Café-au-lait macules with pulmonary stenosis
  • rs766896025Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs767166725Conflicting interpretationssingle nucleotide variantNeurofibromatosis, type 1
  • rs775369084Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs786201310Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, familial spinal|Neurofibromatosis-Noonan syndrome
  • rs786203187Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs786203189Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, familial spinal|Neurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis-Noonan syndrome
  • rs876659061Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs201550230Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs771820789Likely benignsingle nucleotide variantNeurofibromatosis, type 1
  • rs199474790Likely pathogenicsingle nucleotide variant
  • rs864622142Likely pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs864622509Likely pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs876658853Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs1057518904Pathogenicsingle nucleotide variantCafe au lait spots, multiple|Neurofibroma|Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Optic nerve glioma|Cafe au lait spots, multiple
  • rs1060500278Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs137854550Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Neurofibroma|Cafe au lait spots, multiple|Optic nerve glioma|Axillary freckling|Juvenile myelomonocytic leukemia|Neurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal
  • rs137854552Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Juvenile myelomonocytic leukemia|Neurofibromatosis, type 1|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis-Noonan syndrome|Neurofibromatosis, familial spinal|Tibial pseudarthrosis|Neurofibromatosis, type 1
  • rs137854556Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs137854559Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs137854560Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome
  • rs137854562Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Inborn genetic diseases
  • rs137854563Pathogenicsingle nucleotide variantNeurofibromatosis, familial spinal|Neurofibromatosis, type 1
  • rs199474742Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs199474746Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome
  • rs199474760Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Inborn genetic diseases
  • rs199474762Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs199474786Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs199474789Pathogenicsingle nucleotide variantNeurofibromatosis-Noonan syndrome|Neurofibromatosis, type 1
  • rs267606599Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Tibial pseudarthrosis|Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome
  • rs267606600PathogenicDeletionNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Neurofibromatosis-Noonan syndrome
  • rs267606603Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs267606604Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Neurofibromatosis, familial spinal|Hereditary cancer-predisposing syndrome
  • rs267606606PathogenicDeletionNeurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome
  • rs397514641Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Cafe au lait spots, multiple|Axillary freckling|Focal T2 hyperintense basal ganglia lesion|Neurofibroma|Juvenile myelomonocytic leukemia
  • rs764079291Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs772295894Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, type 1|Neurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis|Neurofibromatosis, familial spinal|Juvenile myelomonocytic leukemia|Neurofibromatosis, type 1|Ewing sarcoma
  • rs778405030Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Neurofibromatosis, familial spinal|Juvenile myelomonocytic leukemia|Neurofibromatosis, type 1|Neurofibromatosis-Noonan syndrome|Café-au-lait macules with pulmonary stenosis|Abnormality of the skin
  • rs797045139Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs864622107Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs864622161Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs864622431Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome
  • rs864622551Pathogenicsingle nucleotide variantNeurofibromatosis, type 1
  • rs864622639PathogenicMicrosatelliteNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Tibial pseudarthrosis|Rhabdomyosarcoma
  • rs866445127Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Abnormality of the skin
  • rs876657714Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Rhabdomyosarcoma
  • rs876658541Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Tibial pseudarthrosis|Neurofibromatosis, type 1
  • rs876658658Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Abnormality of the skin
  • rs876658997Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neurofibromatosis, type 1
  • rs878853865Pathogenicsingle nucleotide variantNeurofibromatosis, type 1|Hereditary cancer-predisposing syndrome
  • rs878853913PathogenicMicrosatelliteNeurofibromatosis, type 1
  • rs864622647Uncertain significancesingle nucleotide variantNeurofibromatosis, type 1
  • rs142712751Not classifiedsingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.