NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Cafe-au-lait macules with pulmonary stenosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064794277
rs1064794277 		0.827 0.280 17 31232832 missense variant G/A;C;T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1131691073
rs1131691073 		0.827 0.280 17 31340553 stop gained C/T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1131691075
rs1131691075 		0.827 0.280 17 31235773 splice donor variant G/A;T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs137854550
rs137854550 		0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs137854552
rs137854552 		0.807 0.280 17 31334927 stop gained C/T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs137854556
rs137854556 		0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1555534433
rs1555534433 		0.827 0.280 17 31335032 splice donor variant G/A snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1567847905
rs1567847905 		0.827 0.280 17 31227232 stop gained C/T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1567862991
rs1567862991 		0.827 0.280 17 31260481 stop gained C/T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs267606606
rs267606606 		0.882 0.240 17 31229954 inframe deletion AAT/- del 4.0E-06
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs771529172
rs771529172 		0.827 0.280 17 31327719 missense variant G/A;C;T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs772295894
rs772295894 		0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs778405030
rs778405030 		0.827 0.280 17 31206297 stop gained C/T snv 8.0E-06; 4.0E-06
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs786201367
rs786201367 		0.827 0.280 17 31357308 stop gained C/T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs786202112
rs786202112 		0.827 0.280 17 31327839 missense variant G/A snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs786203896
rs786203896 		0.827 0.280 17 31330468 stop gained G/T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs876660696
rs876660696 		0.827 0.280 17 31335016 stop gained G/A snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs886041347
rs886041347 		0.790 0.320 17 31229061 stop gained C/T snv
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0