ClinVar Miner

List of variants in gene NF1 reported as pathogenic for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 180
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.1218del (p.His407fs) rs1131691106
NM_000267.3(NF1):c.1224T>A (p.Tyr408Ter) rs1555611089
NM_000267.3(NF1):c.1255del (p.Thr419fs) rs1555611105
NM_000267.3(NF1):c.1260+1604A>G rs1131691067
NM_000267.3(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_000267.3(NF1):c.1299T>A (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.1302T>A (p.Cys434Ter) rs1555611570
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.154del (p.Ser52fs) rs1131691109
NM_000267.3(NF1):c.1551_1564del (p.Glu517fs) rs1131691068
NM_000267.3(NF1):c.1572del (p.Glu524fs) rs1085307461
NM_000267.3(NF1):c.1584del (p.Leu529fs) rs876658693
NM_000267.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181
NM_000267.3(NF1):c.1714del (p.Glu572fs) rs876660135
NM_000267.3(NF1):c.1721+1G>T rs1131691096
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1796G>A (p.Trp599Ter) rs1131691130
NM_000267.3(NF1):c.1811T>A (p.Leu604Ter) rs1555613427
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.191del (p.Asn64fs) rs1555604941
NM_000267.3(NF1):c.1961del (p.Pro654fs) rs1131691108
NM_000267.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2088G>A (p.Trp696Ter) rs1131691099
NM_000267.3(NF1):c.2136_2142del (p.His712fs) rs1555613811
NM_000267.3(NF1):c.2178del (p.Ser727fs) rs786202954
NM_000267.3(NF1):c.2237del (p.Asn746fs) rs1555613838
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2388dup (p.Ala797fs) rs1555614011
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.2409+1G>T rs1555614022
NM_000267.3(NF1):c.2409+2T>G rs876660826
NM_000267.3(NF1):c.240_241TC[2] (p.Ser82_Gln83insTer) rs771115661
NM_000267.3(NF1):c.2410-1G>A rs1057518792
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2455del (p.His819fs) rs1567848761
NM_000267.3(NF1):c.2483del (p.Leu828fs) rs1131691069
NM_000267.3(NF1):c.2589T>G (p.Tyr863Ter) rs587782814
NM_000267.3(NF1):c.2589_2592del (p.Ser864fs) rs876658207
NM_000267.3(NF1):c.2622_2623insA (p.Gly875fs) rs587781933
NM_000267.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_000267.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_000267.3(NF1):c.2753del (p.Lys918fs) rs1131691078
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_000267.3(NF1):c.2934del (p.Ser979fs) rs1555614448
NM_000267.3(NF1):c.2952del (p.Gln985fs) rs1555614453
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_000267.3(NF1):c.3074_3096dup (p.Gln1033fs) rs1555614527
NM_000267.3(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
NM_000267.3(NF1):c.3111del (p.Phe1037fs) rs1131691127
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3161_3165del (p.Asn1054fs) rs1555614642
NM_000267.3(NF1):c.3198-2A>G rs1131691089
NM_000267.3(NF1):c.319del (p.Thr107fs) rs1131691116
NM_000267.3(NF1):c.3208C>T (p.Gln1070Ter) rs786202023
NM_000267.3(NF1):c.3367G>T (p.Glu1123Ter) rs1555614940
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3514del (p.Asp1172fs) rs876660580
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3778_3782del (p.Met1260fs) rs1555615462
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.3821dup (p.Phe1275fs) rs786203614
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3870+1G>A rs1131691075
NM_000267.3(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302fs) rs786203500
NM_000267.3(NF1):c.3941G>A (p.Trp1314Ter) rs876658235
NM_000267.3(NF1):c.3948dup (p.Val1317fs) rs1555615559
NM_000267.3(NF1):c.3975-2A>G rs864622431
NM_000267.3(NF1):c.4064C>G (p.Ser1355Ter) rs1131691087
NM_000267.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4110+1G>A rs1555617383
NM_000267.3(NF1):c.4132C>T (p.Gln1378Ter) rs1131691072
NM_000267.3(NF1):c.4200del (p.Tyr1401fs) rs1555618542
NM_000267.3(NF1):c.4203dup (p.Glu1402Ter) rs876659964
NM_000267.3(NF1):c.421del (p.Val141fs) rs1131691119
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly) rs199474743
NM_000267.3(NF1):c.4495C>T (p.Gln1499Ter) rs1060500242
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4564del (p.Ala1523fs) rs1131691088
NM_000267.3(NF1):c.4572C>A (p.Tyr1524Ter) rs754023358
NM_000267.3(NF1):c.4702del (p.Thr1568fs) rs1131691098
NM_000267.3(NF1):c.4756dup (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4841_4842insAAT (p.Tyr1614Ter) rs587781780
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4912_4913CT[1] (p.Lys1640fs) rs1085307459
NM_000267.3(NF1):c.4958_4959TC[1] (p.Ser1654fs) rs876660286
NM_000267.3(NF1):c.5206-1G>A rs876660141
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5264del (p.Gln1754_Ser1755insTer) rs1131691128
NM_000267.3(NF1):c.5406dup (p.Ile1803fs) rs267606605
NM_000267.3(NF1):c.5451_5454del (p.Ile1818fs) rs1555533621
NM_000267.3(NF1):c.5531_5532del (p.Ser1843_Ser1844insTer) rs1555533650
NM_000267.3(NF1):c.5546+1G>A rs1131691117
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5562_5567delinsG (p.Asn1854fs) rs1131691081
NM_000267.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_000267.3(NF1):c.5667dup (p.Ile1890fs) rs876660212
NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) rs786203896
NM_000267.3(NF1):c.5749+1G>A rs876658854
NM_000267.3(NF1):c.5749+332A>G rs863224491
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5776G>T (p.Glu1926Ter) rs587782088
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5844_5845del (p.Arg1949fs) rs863224835
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.6073dup (p.Val2025fs) rs1555534618
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.61-2A>T rs1131691100
NM_000267.3(NF1):c.6157dup (p.Met2053fs) rs1555534673
NM_000267.3(NF1):c.6243_6244insT (p.Leu2082fs) rs876659471
NM_000267.3(NF1):c.6244del (p.Leu2082fs) rs1131691125
NM_000267.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_000267.3(NF1):c.6271del (p.Ala2091fs) rs1555534735
NM_000267.3(NF1):c.6295_6296insTTTAA (p.Ala2099delinsValTer) rs1131691133
NM_000267.3(NF1):c.629T>G (p.Leu210Ter) rs876658570
NM_000267.3(NF1):c.6457_6475del (p.Ala2153fs) rs786203806
NM_000267.3(NF1):c.6462_6474del (p.Ile2155fs) rs1131691071
NM_000267.3(NF1):c.6494C>G (p.Ser2165Ter) rs1131691091
NM_000267.3(NF1):c.6506_6507del (p.Gly2169fs) rs1131691076
NM_000267.3(NF1):c.6514_6515GA[3] (p.Glu2174fs) rs1131691084
NM_000267.3(NF1):c.653dup (p.Ala219fs) rs1131691094
NM_000267.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_000267.3(NF1):c.663G>A (p.Trp221Ter) rs1555608737
NM_000267.3(NF1):c.6641+1G>A rs1060500376
NM_000267.3(NF1):c.6652C>T (p.Gln2218Ter) rs1131691093
NM_000267.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.6789_6792del (p.Tyr2264fs) rs1555535032
NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6792C>G (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6795_6796del (p.Asn2265fs) rs1555535044
NM_000267.3(NF1):c.6859-1G>C rs1131691115
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.6930_6945del (p.Ser2311fs) rs1555535177
NM_000267.3(NF1):c.6965_6968del (p.His2322fs) rs1131691083
NM_000267.3(NF1):c.6999+1G>A rs863224492
NM_000267.3(NF1):c.7000-1G>T rs1131691114
NM_000267.3(NF1):c.7039del (p.Glu2347fs) rs1131691082
NM_000267.3(NF1):c.7047_7048del (p.His2349fs) rs1555535416
NM_000267.3(NF1):c.705C>G (p.Tyr235Ter) rs769048538
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7132del (p.Arg2378fs) rs1131691102
NM_000267.3(NF1):c.7171del (p.Ile2391fs) rs876658245
NM_000267.3(NF1):c.7259del (p.Ala2420fs) rs1131691113
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457
NM_000267.3(NF1):c.7329del (p.Asp2444fs) rs786202180
NM_000267.3(NF1):c.7359dup (p.Thr2454fs) rs1131691107
NM_000267.3(NF1):c.7433del (p.Gly2478fs) rs1555536352
NM_000267.3(NF1):c.7446C>A (p.Tyr2482Ter) rs1555536359
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7543_7552+1del11 rs1131691120
NM_000267.3(NF1):c.7697C>G (p.Ser2566Ter) rs1131691090
NM_000267.3(NF1):c.7699C>T (p.Gln2567Ter) rs1555536687
NM_000267.3(NF1):c.7702C>T (p.Gln2568Ter) rs1555536689
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.7806+1G>A rs1329683225
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
NM_000267.3(NF1):c.7946C>A (p.Ser2649Ter) rs1131691074
NM_000267.3(NF1):c.7994_7995AG[1] (p.Ser2666fs) rs1060500387
NM_000267.3(NF1):c.8032C>T (p.Gln2678Ter) rs786203443
NM_000267.3(NF1):c.82C>T (p.Gln28Ter) rs771764281
NM_000267.3(NF1):c.889-2A>G rs878853922
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000267.3(NF1):c.955del (p.Ser319fs) rs876660931
NM_000267.3(NF1):c.955dup (p.Ser319fs) rs876660931

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.