NM_001042492.3(NF1):c.1527+4_1527+7delPathogenic
Neurofibromatosis, type 1|not provided|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome
β
β
ββ2026
NM_001042492.3(NF1):c.2850+1G>TPathogenic
not provided|Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype
β
β
ββ2026
NM_001042492.3(NF1):c.1260+1G>TPathogenic
Neurofibromatosis, type 1|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026
NM_001042492.3(NF1):c.5971dup (p.Ser1991fs)Pathogenic
Neurofibromatosis, type 1
β
β
ββ2026β Residue 1991
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)Pathogenic
Neurofibromatosis, type 1|not provided|Hereditary cancer-predisposing syndrome|Juvenile myelomonocytic leukemia|Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;CafΓ©-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1|NF1-related disorder|Neurofibromatosis-Noonan syndrome
β
β
ββ2026β Residue 514
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])Pathogenic
Neurofibromatosis, type 1|not provided|Tibial pseudarthrosis;Neurofibromatosis, type 1|Rhabdomyosarcoma|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|NF1-related disorder|Neurofibromatosis-Noonan syndrome;CafΓ©-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1
β
β
ββ2026
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)Pathogenic
Inborn genetic diseases|Neurofibromatosis, type 1|not provided|Neurofibromatosis, type 1;Tibial pseudarthrosis|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|CafΓ©-au-lait macules with pulmonary stenosis|Embryonal rhabdomyosarcoma|Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;CafΓ©-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia|See cases
β
β
ββ2026β Residue 167
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)Pathogenic
Neurofibromatosis, type 1|not provided
β
β
ββ2026β Residue 1461
NM_001042492.3(NF1):c.7300C>T (p.Gln2434Ter)Pathogenic
Neurofibromatosis, type 1|not provided
β
β
ββ2026β Residue 2434
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|not provided|Tibial pseudarthrosis;Neurofibromatosis, type 1|CafΓ©-au-lait macules with pulmonary stenosis;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|CafΓ©-au-lait macules with pulmonary stenosis|NF1-related disorder
β
β
ββ2026β Residue 2258
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter)Pathogenic
Neurofibromatosis, type 1|Rhabdomyosarcoma|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|not provided|CafΓ©-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Juvenile myelomonocytic leukemia;Neurofibromatosis-Noonan syndrome;Neurofibromatosis, type 1
β
β
ββ2026β Residue 1662
NM_001042492.3(NF1):c.6430G>T (p.Glu2144Ter)Pathogenic
not provided|Neurofibromatosis, type 1
β
β
ββ2026β Residue 2144
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)Pathogenic
Neurofibromatosis, type 1|not provided
β
β
ββ2026β Residue 554
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)Pathogenic
Neurofibromatosis-Noonan syndrome;CafΓ©-au-lait macules with pulmonary stenosis;Neurofibromatosis, type 1|Neurofibromatosis, type 1|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype
β
β
ββ2026β Residue 1776
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)Pathogenic
Rhabdomyosarcoma|Neurofibromatosis, type 1|not provided|NF1-related disorder
β
β
ββ2026β Residue 1174
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)Pathogenic
Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|not provided|CafΓ©-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;Juvenile myelomonocytic leukemia
β
β
ββ2026β Residue 1298
NM_001042492.3(NF1):c.1949T>G (p.Leu650Ter)Pathogenic
Neurofibromatosis, type 1
β
β
ββ2026β Residue 650
NM_001042492.3(NF1):c.1721+3A>GPathogenic
Neurofibroma;Cafe au lait spots, multiple|Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|Optic nerve glioma;Cafe au lait spots, multiple|not provided|Juvenile myelomonocytic leukemia
β
β
ββ2026
NM_001042492.3(NF1):c.4824T>G (p.Tyr1608Ter)Pathogenic
Neurofibromatosis, type 1|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 1608
NM_001042492.3(NF1):c.6643-2A>GPathogenic
Neurofibromatosis, type 1|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome
β
β
ββ2026