ClinVar Miner

List of variants reported as likely pathogenic for Neurofibromatosis, type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
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HGVS dbSNP
NC_000017.10:g.(?_29527434)_(29533395_?)del
NC_000017.10:g.(?_29540877)_(29563299_?)dup
NC_000017.10:g.(?_29652828)_(29657526_?)dup
NC_000017.10:g.(?_29652832)_(29701179_?)del
NC_000017.11:g.31181425C>G
NM_000267.3(NF1):c.1062+1G>A
NM_000267.3(NF1):c.1063-1G>C rs1555610955
NM_000267.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_000267.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_000267.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_000267.3(NF1):c.1183_1185+2delAAGGT rs1555611039
NM_000267.3(NF1):c.1186-1G>C rs876660782
NM_000267.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_000267.3(NF1):c.1260+2T>G rs1555611110
NM_000267.3(NF1):c.1340T>C (p.Leu447Pro)
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1392+1delG rs1060500347
NM_000267.3(NF1):c.1392+2T>C rs1555611610
NM_000267.3(NF1):c.1393-1G>A
NM_000267.3(NF1):c.1393-1G>C rs1131691131
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1393-2A>T rs1555612266
NM_000267.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_000267.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1527+1G>C rs1060500331
NM_000267.3(NF1):c.1527+1G>T rs1060500331
NM_000267.3(NF1):c.1527+2T>C rs1064796700
NM_000267.3(NF1):c.1527+4_1527+7delAGTA rs1555612294
NM_000267.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_000267.3(NF1):c.15del (p.Arg5fs) rs1057516197
NM_000267.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1641+1G>A rs1555612866
NM_000267.3(NF1):c.1641+2T>C rs1555612867
NM_000267.3(NF1):c.1641+2del rs1135402818
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1721+2T>G rs1567845116
NM_000267.3(NF1):c.1845+1_1845+5del rs1135402822
NM_000267.3(NF1):c.1845+2T>C rs1555613430
NM_000267.3(NF1):c.1846-2A>G rs1567846609
NM_000267.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_000267.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2002-4_2010del rs878853871
NM_000267.3(NF1):c.2010del (p.Ala671fs)
NM_000267.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_000267.3(NF1):c.204+2T>G
NM_000267.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_000267.3(NF1):c.2251+1G>C rs1555613843
NM_000267.3(NF1):c.2251+2T>G rs864622142
NM_000267.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_000267.3(NF1):c.2252-1G>A rs587781577
NM_000267.3(NF1):c.2252-1G>T rs587781577
NM_000267.3(NF1):c.2252-1delG
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2326-1G>A
NM_000267.3(NF1):c.2326-1G>C rs1567848100
NM_000267.3(NF1):c.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2329T>G (p.Trp777Gly)
NM_000267.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_000267.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730
NM_000267.3(NF1):c.2375T>A (p.Leu792His)
NM_000267.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_000267.3(NF1):c.2410-16A>G rs1567848704
NM_000267.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_000267.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_000267.3(NF1):c.2850+2T>G
NM_000267.3(NF1):c.2850G>C (p.Gln950His) rs863224446
NM_000267.3(NF1):c.2851-1G>A
NM_000267.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_000267.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_000267.3(NF1):c.288+1del rs1057519370
NM_000267.3(NF1):c.2894T>G (p.Ile965Arg) rs1555614438
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2990G>A (p.Arg997Lys)
NM_000267.3(NF1):c.2991-2A>C rs1555614495
NM_000267.3(NF1):c.2991-3T>G
NM_000267.3(NF1):c.2991G>C (p.Arg997Ser)
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_000267.3(NF1):c.3104T>A (p.Met1035Lys)
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3114-1G>A rs1555614611
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_000267.3(NF1):c.3197+2delT
NM_000267.3(NF1):c.3197+489_3382del
NM_000267.3(NF1):c.3198-2A>T rs1131691089
NM_000267.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_000267.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_000267.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_000267.3(NF1):c.3314+1G>A
NM_000267.3(NF1):c.3314+2T>A rs863224445
NM_000267.3(NF1):c.3315-1G>A
NM_000267.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_000267.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_000267.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_000267.3(NF1):c.3378_3381dup (p.Gly1128fs)
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3468C>A (p.Asn1156Lys) rs147955381
NM_000267.3(NF1):c.3496G>A (p.Gly1166Ser)
NM_000267.3(NF1):c.3497-1G>A rs1555615004
NM_000267.3(NF1):c.3569G>A (p.Gly1190Asp) rs1555615032
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_000267.3(NF1):c.3641T>G (p.Met1214Arg) rs1567851416
NM_000267.3(NF1):c.3708+1G>A
NM_000267.3(NF1):c.3708+1G>T rs1420779915
NM_000267.3(NF1):c.3708+3A>T rs1555615114
NM_000267.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_000267.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_000267.3(NF1):c.3871-1G>A rs1567852753
NM_000267.3(NF1):c.3974+2T>C rs1555615567
NM_000267.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_000267.3(NF1):c.3975-1G>T rs1060500370
NM_000267.3(NF1):c.3G>A (p.Met1Ile)
NM_000267.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_000267.3(NF1):c.4111-1G>A rs1555618492
NM_000267.3(NF1):c.4111-2A>G rs1555618489
NM_000267.3(NF1):c.4120C>T (p.Gln1374Ter) rs1555618494
NM_000267.3(NF1):c.4168C>G (p.Leu1390Val) rs199474789
NM_000267.3(NF1):c.4171A>G (p.Arg1391Gly) rs1555618515
NM_000267.3(NF1):c.4173A>C (p.Arg1391Ser)
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.4253T>A (p.Leu1418Ter) rs1567862071
NM_000267.3(NF1):c.4265C>T (p.Ser1422Leu) rs1555618566
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4270-1G>A rs1418965797
NM_000267.3(NF1):c.4270-2A>C
NM_000267.3(NF1):c.4276C>G (p.Gln1426Glu)
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4277A>G (p.Gln1426Arg) rs786204157
NM_000267.3(NF1):c.4288A>G (p.Asn1430Asp) rs1567862283
NM_000267.3(NF1):c.4309_4311GAA[1] (p.Glu1438del) rs267606607
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4340T>G (p.Val1447Gly) rs1135402860
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4367+2T>C rs1555618693
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.4493G>A (p.Gly1498Glu) rs1567863004
NM_000267.3(NF1):c.4595del (p.Pro1532fs) rs1555619029
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4681_4682del (p.Glu1561fs) rs1555619395
NM_000267.3(NF1):c.4758T>A (p.Tyr1586Ter) rs1555619416
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4773-1G>C rs1057518326
NM_000267.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_000267.3(NF1):c.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.5002dup (p.Tyr1668fs) rs1555533359
NM_000267.3(NF1):c.5009_5010delinsCCC (p.Lys1670fs) rs1555533363
NM_000267.3(NF1):c.5205+2T>G rs1555533416
NM_000267.3(NF1):c.5206-1G>C rs876660141
NM_000267.3(NF1):c.5222T>A (p.Val1741Asp) rs1555533550
NM_000267.3(NF1):c.5294C>A (p.Ser1765Ter) rs1555533569
NM_000267.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_000267.3(NF1):c.5497_5499delinsT (p.Leu1833fs) rs1555533641
NM_000267.3(NF1):c.5508del (p.Ile1836fs) rs1135402874
NM_000267.3(NF1):c.5546+5G>A
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5547-2A>G rs1135402876
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5561A>G (p.Asn1854Ser) rs1555533843
NM_000267.3(NF1):c.5600dup (p.Glu1868fs) rs1555533856
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.5721_5722AG[1] (p.Glu1908fs) rs1555533882
NM_000267.3(NF1):c.5749+1G>T rs876658854
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5773T>A (p.Leu1925Met) rs1422333640
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.586+2T>C rs1135402791
NM_000267.3(NF1):c.586+5G>A rs1060500284
NM_000267.3(NF1):c.587-2A>G rs1057518360
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5944-1G>A rs1555534596
NM_000267.3(NF1):c.5944-?_6858+?del
NM_000267.3(NF1):c.60+1G>C
NM_000267.3(NF1):c.60+1G>T rs1555594500
NM_000267.3(NF1):c.60+2del rs1131691101
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.6085-1G>C rs1555534661
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.6164_6165dup (p.Asp2056fs) rs1555534680
NM_000267.3(NF1):c.6241dup (p.Tyr2081fs) rs1555534712
NM_000267.3(NF1):c.6364G>A (p.Glu2122Lys) rs1555534775
NM_000267.3(NF1):c.6365-2A>C rs1060500312
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_000267.3(NF1):c.6537del (p.Ser2180fs) rs1135402892
NM_000267.3(NF1):c.654+1G>T rs1060500245
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6580-2A>G
NM_000267.3(NF1):c.6580-2A>T
NM_000267.3(NF1):c.6582del (p.Cys2195fs) rs1555534913
NM_000267.3(NF1):c.6606C>A (p.Cys2202Ter) rs1555534918
NM_000267.3(NF1):c.6608del (p.Lys2203fs) rs1555534919
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6622T>C (p.Trp2208Arg) rs1060500342
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-1G>A rs1060500356
NM_000267.3(NF1):c.6642-1G>C rs1060500356
NM_000267.3(NF1):c.6717_6728delinsATGAGAC (p.His2240_Ile2243delinsTer) rs1555534952
NM_000267.3(NF1):c.6747del (p.Ser2251fs) rs1135402893
NM_000267.3(NF1):c.6755A>T (p.Lys2252Met) rs1060500344
NM_000267.3(NF1):c.6756+1G>A rs1555534964
NM_000267.3(NF1):c.6756+2T>C rs1135402894
NM_000267.3(NF1):c.6757-1G>C rs1060500266
NM_000267.3(NF1):c.6770dup (p.Cys2257fs) rs1555535027
NM_000267.3(NF1):c.6792dup (p.Asn2265fs) rs1555535041
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+2T>A rs1555535053
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6858G>A (p.Lys2286=)
NM_000267.3(NF1):c.6858G>C (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6859-2A>G rs864622509
NM_000267.3(NF1):c.6889_6892del (p.Val2297fs) rs1555535163
NM_000267.3(NF1):c.68del (p.Ile23fs) rs1057518884
NM_000267.3(NF1):c.6916_6917insTA (p.Glu2306fs) rs1555535171
NM_000267.3(NF1):c.6999+2T>C rs1135402898
NM_000267.3(NF1):c.7027C>A (p.Arg2343=) rs1567620403
NM_000267.3(NF1):c.7106_7115delinsCAGC (p.Leu2369_His2372delinsSerAla) rs1555535448
NM_000267.3(NF1):c.7126+1G>A rs1555535455
NM_000267.3(NF1):c.7258+1G>T rs1135402903
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.7395-7_7396delinsT rs1555536334
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7552+1G>T rs1555536380
NM_000267.3(NF1):c.755_757TGG[1] (p.Val253del) rs1060500323
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7690del (p.Ser2564fs) rs1555536685
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.7806+2T>G rs1555536724
NM_000267.3(NF1):c.7807-1G>A rs1567627138
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7909C>T (p.His2637Tyr) rs1555536868
NM_000267.3(NF1):c.8096del (p.Lys2699fs) rs1555537029
NM_000267.3(NF1):c.8097+1G>A rs1555537032
NM_000267.3(NF1):c.817del (p.Leu273fs) rs1555608972
NM_000267.3(NF1):c.862del (p.Val288fs) rs1135402797
NM_000267.3(NF1):c.888+1G>C rs1135402799
NM_000267.3(NF1):c.889-1G>A rs587781517
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000267.3(NF1):c.988del (p.Ala330fs) rs1555610896
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898

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