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Gene entry

PTPN11

protein tyrosine phosphatase non-receptor type 11

Chromosome
12
Cytoband
12q24.13
Variants (rsID)
48

PTPN11 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.13). Its official name is “protein tyrosine phosphatase non-receptor type 11”. The reference table lists 48 variants (rsID) for this gene.

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Clinically classified variants

42 reference-table entries with clinical significance.

  • rs148176616Benignsingle nucleotide variantRASopathy|Noonan syndrome|Cardiovascular phenotype|History of neurodevelopmental disorder|LEOPARD syndrome 1|Noonan syndrome 1|Juvenile myelomonocytic leukemia|Metachondromatosis|Primary dilated cardiomyopathy|Cardiomyopathy|Metachondromatosis|Noonan syndrome and Noonan-related syndrome
  • rs187389813Benignsingle nucleotide variantNoonan syndrome|RASopathy
  • rs201787206Benignsingle nucleotide variantCardiovascular phenotype|RASopathy|Noonan syndrome|Metachondromatosis|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome
  • rs374896287Benignsingle nucleotide variantCardiovascular phenotype|Metachondromatosis|Noonan syndrome 1|LEOPARD syndrome 1|RASopathy|History of neurodevelopmental disorder
  • rs397507502Benignsingle nucleotide variant
  • rs41279092Benignsingle nucleotide variant
  • rs121918462Conflicting interpretationssingle nucleotide variantNoonan syndrome 1|RASopathy|Noonan syndrome|Juvenile myelomonocytic leukemia|Metachondromatosis|Noonan syndrome 1|LEOPARD syndrome 1|Noonan syndrome and Noonan-related syndrome
  • rs121918464Conflicting interpretationssingle nucleotide variantJuvenile myelomonocytic leukemia|RASopathy|Multiple myeloma|Astrocytoma|Squamous cell lung carcinoma|Noonan syndrome|Neoplasm of the large intestine|Neuroblastoma|Malignant neoplastic disease
  • rs141140214Conflicting interpretationssingle nucleotide variantNoonan syndrome 1|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Metachondromatosis|RASopathy
  • rs730880328Conflicting interpretationssingle nucleotide variantMetachondromatosis|Noonan syndrome 1|LEOPARD syndrome 1
  • rs11066313Likely benignsingle nucleotide variant
  • rs143238917Likely benignsingle nucleotide variantNoonan syndrome 1|Metachondromatosis|LEOPARD syndrome 1|Cardiovascular phenotype|RASopathy
  • rs146749153Likely benignsingle nucleotide variantRASopathy|History of neurodevelopmental disorder
  • rs372736227Likely benignsingle nucleotide variantLEOPARD syndrome 1|Metachondromatosis|Noonan syndrome 1|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs73209632Likely benignsingle nucleotide variant
  • rs121918453Pathogenicsingle nucleotide variantNoonan syndrome 1|RASopathy|Noonan syndrome|LEOPARD syndrome 1|Noonan syndrome 1|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome
  • rs121918454Pathogenicsingle nucleotide variantNoonan syndrome 1|Noonan syndrome|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome 3|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs121918455Pathogenicsingle nucleotide variantNoonan syndrome 1|Noonan syndrome|RASopathy|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome 3|LEOPARD syndrome 1|Noonan syndrome 1|LEOPARD syndrome 1|PTPN11 Related Disorders|Noonan syndrome and Noonan-related syndrome
  • rs121918456Pathogenicsingle nucleotide variantNoonan syndrome with multiple lentigines|RASopathy|LEOPARD syndrome 1|CBL-related disorder|Noonan syndrome 1|Cardiovascular phenotype|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome with multiple lentigines|Noonan syndrome|Noonan syndrome and Noonan-related syndrome
  • rs121918457Pathogenicsingle nucleotide variantRASopathy|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome|Noonan syndrome with multiple lentigines|Inborn genetic diseases|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|PTPN11-related disorder|Hypertrophic cardiomyopathy|Noonan syndrome and Noonan-related syndrome
  • rs121918458Pathogenicsingle nucleotide variantNoonan syndrome 1|Juvenile myelomonocytic leukemia|Noonan syndrome|Noonan syndrome|RASopathy
  • rs121918459Pathogenicsingle nucleotide variantNoonan syndrome 1|RASopathy|Noonan syndrome|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome 3|B lymphoblastic leukemia lymphoma, no ICD-O subtype|Lymphoma|Metachondromatosis|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome
  • rs121918460Pathogenicsingle nucleotide variantNoonan syndrome 1|RASopathy|Noonan syndrome|6 conditions|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Juvenile myelomonocytic leukemia|Noonan syndrome|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome
  • rs121918461Pathogenicsingle nucleotide variantNoonan syndrome 1|RASopathy|Noonan syndrome|Short stature|Abnormality of cardiovascular system morphology|Juvenile myelomonocytic leukemia|Noonan syndrome|LEOPARD syndrome 1|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome
  • rs121918463Pathogenicsingle nucleotide variantNoonan syndrome 1|Noonan syndrome|Early T cell progenitor acute lymphoblastic leukemia|RASopathy|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome
  • rs121918465Pathogenicsingle nucleotide variantJuvenile myelomonocytic leukemia|RASopathy|Noonan syndrome and Noonan-related syndrome
  • rs121918466Pathogenicsingle nucleotide variantNoonan syndrome 1|RASopathy|Noonan syndrome|LEOPARD syndrome 1|Metachondromatosis|Juvenile myelomonocytic leukemia|Noonan syndrome 1|Noonan syndrome 3|Noonan syndrome and Noonan-related syndrome
  • rs121918468Pathogenicsingle nucleotide variantLEOPARD syndrome 1|Noonan syndrome with multiple lentigines|RASopathy|Noonan syndrome 1
  • rs121918469Pathogenicsingle nucleotide variantRASopathy|LEOPARD syndrome 1|Noonan syndrome with multiple lentigines|Noonan syndrome|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome
  • rs121918470Pathogenicsingle nucleotide variantLEOPARD syndrome 1|RASopathy|Noonan syndrome with multiple lentigines|Noonan syndrome 3|Noonan syndrome with multiple lentigines|Noonan syndrome|Noonan syndrome 1|LEOPARD syndrome 1|Noonan syndrome 1
  • rs267606989Pathogenicsingle nucleotide variantMetachondromatosis|RASopathy
  • rs267606990Pathogenicsingle nucleotide variantNoonan syndrome 1|Noonan syndrome|RASopathy|Metachondromatosis
  • rs28933386Pathogenicsingle nucleotide variantNoonan syndrome 1|RASopathy|Noonan syndrome|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Cardiovascular phenotype|LEOPARD syndrome 1|Noonan syndrome 1|Inborn genetic diseases|Metachondromatosis|LEOPARD syndrome 1|Noonan syndrome 1|LEOPARD syndrome 1|Thrombocytopenia|Abnormal bleeding|Hereditary cancer-predisposing syndrome|Noonan syndrome and Noonan-related syndrome
  • rs376607329Pathogenicsingle nucleotide variantNoonan syndrome|Noonan syndrome 1|RASopathy|Inborn genetic diseases|PTPN11-related disorder|Metachondromatosis|LEOPARD syndrome 1|LEOPARD syndrome 1|Noonan syndrome 1|Juvenile myelomonocytic leukemia|Metachondromatosis
  • rs397507505Pathogenicsingle nucleotide variantNoonan syndrome|RASopathy
  • rs397507506Pathogenicsingle nucleotide variantNoonan syndrome|Noonan syndrome 3|RASopathy|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome
  • rs397507511Pathogenicsingle nucleotide variantRASopathy|Noonan syndrome
  • rs397507512Pathogenicsingle nucleotide variantNoonan syndrome|Noonan syndrome 3|RASopathy
  • rs397507525Pathogenicsingle nucleotide variantNoonan syndrome|RASopathy
  • rs397507540Pathogenicsingle nucleotide variantNoonan syndrome|RASopathy|Strabismus|Short stature|Abnormal facial shape
  • rs397507543Pathogenicsingle nucleotide variantNoonan syndrome|RASopathy|7 conditions|Noonan syndrome 1
  • rs201247699Uncertain significancesingle nucleotide variantNeurofibroma|RASopathy|Noonan syndrome and Noonan-related syndrome

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.