ClinVar Miner

List of variants in gene NF1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 816
Download table as spreadsheet
HGVS dbSNP
NC_000017.10:g.(?_29486022)_(29533395_?)del
NC_000017.10:g.(?_29490204)_(29490394_?)del
NC_000017.10:g.(?_29490204)_(29497015_?)del
NC_000017.10:g.(?_29508434)_(29509689_?)del
NC_000017.10:g.(?_29527420)_(29592377_?)del
NC_000017.10:g.(?_29527430)_(29533399_?)del
NC_000017.10:g.(?_29527430)_(29592367_?)del
NC_000017.10:g.(?_29527440)_(29592357_?)del
NC_000017.10:g.(?_29556843)_(29592367_?)del
NC_000017.10:g.(?_29559081)_(29576147_?)del
NC_000017.10:g.(?_29587367)_(29592377_?)dup
NC_000017.10:g.(?_29652832)_(29665163_?)del
NC_000017.10:g.(?_29654517)_(29654857_?)del
NC_000017.10:g.(?_29661846)_(29662059_?)del
NC_000017.10:g.(?_29661850)_(29662055_?)del
NC_000017.10:g.(?_29670027)_(29670153_?)del
NF1, 1-BP DEL, 4071C
NF1, 5-BP DEL
NF1, ALU INS
NF1, DEL
NG_009018.1(NF1):g.[134769_136954del2186;136931_139830del2900]
NM_000267.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_000267.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_000267.3(NF1):c.1041_1045del (p.Gln347fs) rs1135402800
NM_000267.3(NF1):c.1059del (p.Lys354fs) rs863224488
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1066del (p.Leu356fs)
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_000267.3(NF1):c.1094C>A (p.Ser365Ter) rs864622107
NM_000267.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_000267.3(NF1):c.1095_1096del (p.Gly367fs)
NM_000267.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_000267.3(NF1):c.1152del (p.Arg385fs) rs1135402803
NM_000267.3(NF1):c.1174C>T (p.Gln392Ter)
NM_000267.3(NF1):c.1185+1G>A rs864622161
NM_000267.3(NF1):c.1218del (p.His407fs) rs1131691106
NM_000267.3(NF1):c.1237T>C (p.Ser413Pro) rs1555611093
NM_000267.3(NF1):c.1238C>A (p.Ser413Ter)
NM_000267.3(NF1):c.1238C>G (p.Ser413Ter) rs1241533665
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.125_126dup (p.Leu43fs) rs1555604897
NM_000267.3(NF1):c.1260+1604A>G rs1131691067
NM_000267.3(NF1):c.1260+1G>A rs267606603
NM_000267.3(NF1):c.1260+1G>T
NM_000267.3(NF1):c.1260+220_7553-1095del
NM_000267.3(NF1):c.1280_1292del (p.Pro427fs) rs1135402804
NM_000267.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.129_130ins568 (p.?)
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1322_1323AT[1] (p.Met442fs) rs1135402805
NM_000267.3(NF1):c.1331del (p.Gly444fs) rs1567838293
NM_000267.3(NF1):c.1343dup (p.His448fs) rs1555611584
NM_000267.3(NF1):c.1344dup (p.Lys449Ter) rs1567838311
NM_000267.3(NF1):c.1354C>T (p.Gln452Ter) rs1555611590
NM_000267.3(NF1):c.1374dup (p.Ala459fs) rs1135402806
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1392+1G>C
NM_000267.3(NF1):c.1392+1del rs1060500347
NM_000267.3(NF1):c.1393-1905_2251+85dup
NM_000267.3(NF1):c.1393-2488_1642-648delinsAATAG
NM_000267.3(NF1):c.1393-2652_1528-892del
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1393-3329_3975-6377del
NM_000267.3(NF1):c.1393_1394delAG
NM_000267.3(NF1):c.1400_1415del (p.Thr467fs) rs1555612270
NM_000267.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_000267.3(NF1):c.1423dup (p.Leu475fs) rs1555612274
NM_000267.3(NF1):c.1462del (p.Ser488fs) rs1135402810
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1469_1470insTTAT (p.Lys490fs) rs1060500307
NM_000267.3(NF1):c.1469_1472del (p.Lys490fs) rs1135402811
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1514del (p.Lys505fs) rs1555612289
NM_000267.3(NF1):c.1523T>C (p.Leu508Pro) rs137854558
NM_000267.3(NF1):c.1525del (p.Cys509fs) rs1135402813
NM_000267.3(NF1):c.1525dup (p.Cys509fs) rs1135402813
NM_000267.3(NF1):c.1527+1509_1641+1137del
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1527+443_3709-761dup
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1528-960_1761del
NM_000267.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_000267.3(NF1):c.1549G>T (p.Glu517Ter) rs587778548
NM_000267.3(NF1):c.1561del (p.Ser521fs) rs1135402814
NM_000267.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_000267.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_000267.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_000267.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_000267.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1613del (p.Met538fs) rs1135402817
NM_000267.3(NF1):c.1618G>T (p.Glu540Ter) rs1567843930
NM_000267.3(NF1):c.1619del (p.Glu540fs) rs1567843934
NM_000267.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181
NM_000267.3(NF1):c.1641+156_3975-2222del
NM_000267.3(NF1):c.1642-1G>A rs1555613185
NM_000267.3(NF1):c.1642-2A>T
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_000267.3(NF1):c.1680del (p.Leu560fs) rs1567845069
NM_000267.3(NF1):c.1683G>A (p.Trp561Ter) rs1135402820
NM_000267.3(NF1):c.1713G>A (p.Trp571Ter) rs863224489
NM_000267.3(NF1):c.1714del (p.Glu572fs) rs876660135
NM_000267.3(NF1):c.1721+1G>A rs1131691096
NM_000267.3(NF1):c.1721+1G>T rs1131691096
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1722-2A>G rs763983337
NM_000267.3(NF1):c.1724C>G (p.Ser575Ter)
NM_000267.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_000267.3(NF1):c.1738dup (p.Tyr580fs) rs786204255
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1765C>T (p.Gln589Ter) rs1282299543
NM_000267.3(NF1):c.1783G>T (p.Glu595Ter)
NM_000267.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_000267.3(NF1):c.1797G>A (p.Trp599Ter) rs1567845906
NM_000267.3(NF1):c.1804dup (p.Glu602fs)
NM_000267.3(NF1):c.1815del (p.Cys606fs) rs1567845935
NM_000267.3(NF1):c.1818C>A (p.Cys606Ter) rs1567845937
NM_000267.3(NF1):c.181dup (p.Ile61fs) rs1555604935
NM_000267.3(NF1):c.1845+1G>A rs1567845945
NM_000267.3(NF1):c.1845+537_4661+331del
NM_000267.3(NF1):c.1846-496_2410-645delinsTAGC
NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT
NM_000267.3(NF1):c.1857_1863del (p.Arg619fs) rs1567846634
NM_000267.3(NF1):c.1861del (p.Ser621fs)
NM_000267.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_000267.3(NF1):c.1882dup (p.Tyr628fs) rs1555613558
NM_000267.3(NF1):c.1883_1885delinsCC (p.Tyr628fs) rs1135402823
NM_000267.3(NF1):c.1884C>A (p.Tyr628Ter) rs555635097
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.1895del (p.Cys632fs)
NM_000267.3(NF1):c.1912G>T (p.Gly638Ter) rs1555613567
NM_000267.3(NF1):c.1918dup (p.Thr640fs) rs1135402825
NM_000267.3(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_000267.3(NF1):c.1984A>T (p.Lys662Ter)
NM_000267.3(NF1):c.1988_2410-218delinsTGTC
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2034del (p.Ile679fs) rs1567847384
NM_000267.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_000267.3(NF1):c.204+155_2990+53del
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.204+1G>T rs886039548
NM_000267.3(NF1):c.204+3_204+6del rs1567814632
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2041del (p.Arg681fs) rs1567847398
NM_000267.3(NF1):c.2045_2049dup (p.Gln684fs)
NM_000267.3(NF1):c.2048_5041del
NM_000267.3(NF1):c.205-1G>C rs1555605362
NM_000267.3(NF1):c.205-2A>G
NM_000267.3(NF1):c.2062G>T (p.Glu688Ter) rs1555613784
NM_000267.3(NF1):c.2064dup (p.Val689fs) rs1555613786
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000267.3(NF1):c.2071del (p.Leu691fs) rs1060500364
NM_000267.3(NF1):c.2122del (p.Ser708fs)
NM_000267.3(NF1):c.2148_2159delinsTGAAGTGTCT (p.Glu716fs) rs1567847538
NM_000267.3(NF1):c.2158dup (p.Arg720fs)
NM_000267.3(NF1):c.2167del (p.Val723fs) rs1567847571
NM_000267.3(NF1):c.2208_2209CA[1] (p.Thr737fs) rs1555613831
NM_000267.3(NF1):c.2218G>T (p.Glu740Ter) rs1135402827
NM_000267.3(NF1):c.221_222dup (p.Ala75fs)
NM_000267.3(NF1):c.2251+1G>A rs1555613843
NM_000267.3(NF1):c.2252-2A>C rs1131691105
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2252-70_2326-39dup rs1555613896
NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_000267.3(NF1):c.2272A>T (p.Arg758Ter)
NM_000267.3(NF1):c.2293del (p.Arg765fs)
NM_000267.3(NF1):c.2298_2304del (p.Glu767fs) rs786204154
NM_000267.3(NF1):c.2322_2323del (p.Glu775fs) rs1567847962
NM_000267.3(NF1):c.2325+1G>A rs1555613933
NM_000267.3(NF1):c.2325+1G>T rs1555613933
NM_000267.3(NF1):c.2325+2T>C rs1567847972
NM_000267.3(NF1):c.2325+3A>G rs1057517848
NM_000267.3(NF1):c.2325G>T (p.Glu775Asp)
NM_000267.3(NF1):c.2329T>C (p.Trp777Arg)
NM_000267.3(NF1):c.2338_2343del (p.Thr780_His781del) rs1135402828
NM_000267.3(NF1):c.2338dup (p.Thr780fs) rs1567848129
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_000267.3(NF1):c.2349del (p.Lys783fs) rs1135402829
NM_000267.3(NF1):c.2352G>A (p.Trp784Ter) rs199474778
NM_000267.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_000267.3(NF1):c.236T>G (p.Leu79Ter)
NM_000267.3(NF1):c.2380del (p.Tyr794fs) rs1567848178
NM_000267.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_000267.3(NF1):c.2409+1G>A
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.2409+2del rs878853875
NM_000267.3(NF1):c.240_241TC[3] (p.Gln83fs) rs771115661
NM_000267.3(NF1):c.2410-110_2850+65delinsAAAA rs1555614169
NM_000267.3(NF1):c.2411del (p.Ala804fs) rs1555614180
NM_000267.3(NF1):c.2424del (p.His809fs) rs1567848731
NM_000267.3(NF1):c.2434del (p.Ile812fs) rs1567848739
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2449dup (p.Met817fs) rs1567848755
NM_000267.3(NF1):c.2458del (p.His819_Val820insTer)
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.247C>T (p.Gln83Ter)
NM_000267.3(NF1):c.248A>C (p.Gln83Pro)
NM_000267.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_000267.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244
NM_000267.3(NF1):c.2511G>A (p.Trp837Ter) rs1555614211
NM_000267.3(NF1):c.2525del (p.Gly842fs)
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_000267.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_000267.3(NF1):c.2534G>A (p.Cys845Tyr) rs1060500367
NM_000267.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2540T>G (p.Leu847Arg)
NM_000267.3(NF1):c.2542G>A (p.Gly848Arg)
NM_000267.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_000267.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_000267.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2604dup (p.Pro869fs) rs878853877
NM_000267.3(NF1):c.2619dup (p.Lys874Ter) rs1555614284
NM_000267.3(NF1):c.2622_2629del (p.Lys874fs) rs1567848976
NM_000267.3(NF1):c.2668_2677del (p.Pro890fs) rs1555614293
NM_000267.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_000267.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_000267.3(NF1):c.2695_2738dup (p.Arg914_Thr915insCysProTer)
NM_000267.3(NF1):c.2702T>G (p.Leu901Ter)
NM_000267.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_000267.3(NF1):c.2710dup (p.Cys904fs) rs1555614310
NM_000267.3(NF1):c.2729dup (p.Leu911fs) rs1555614313
NM_000267.3(NF1):c.2734C>T (p.Gln912Ter)
NM_000267.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2790T>G (p.Tyr930Ter) rs1135402832
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.279T>A (p.Cys93Ter)
NM_000267.3(NF1):c.2802del (p.Phe934fs) rs1555614343
NM_000267.3(NF1):c.2827A>T (p.Lys943Ter) rs1567849199
NM_000267.3(NF1):c.282del (p.Ala95fs) rs1555605404
NM_000267.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_000267.3(NF1):c.2848del (p.Gln950fs) rs1135402833
NM_000267.3(NF1):c.2850+1G>A rs1131691122
NM_000267.3(NF1):c.2851-151_2990+121dup rs1555614386
NM_000267.3(NF1):c.2866dup (p.Thr956fs) rs1555614418
NM_000267.3(NF1):c.2870del (p.Asn957fs) rs1555614423
NM_000267.3(NF1):c.288+1G>C
NM_000267.3(NF1):c.288+1G>T rs1567816131
NM_000267.3(NF1):c.288+1del rs1057519370
NM_000267.3(NF1):c.288+2T>A rs1555605406
NM_000267.3(NF1):c.288+2T>C rs1555605406
NM_000267.3(NF1):c.288+5G>A
NM_000267.3(NF1):c.288+5G>T rs1555605409
NM_000267.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_000267.3(NF1):c.2947_2948del (p.Leu983fs)
NM_000267.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_000267.3(NF1):c.2969_2970dup (p.Met991fs) rs1555614458
NM_000267.3(NF1):c.2970_2971del (p.Met991fs)
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.298del (p.Asp100fs) rs1567817841
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.2991-1G>A rs1060500273
NM_000267.3(NF1):c.2991-1G>C rs1060500273
NM_000267.3(NF1):c.3027del (p.Gln1010fs) rs1135402837
NM_000267.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_000267.3(NF1):c.3040A>T (p.Lys1014Ter) rs1135402839
NM_000267.3(NF1):c.3043del (p.Leu1015fs) rs1555614514
NM_000267.3(NF1):c.3045_3046GT[1] (p.Cys1016fs)
NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_000267.3(NF1):c.3047_3048insSVAelement
NM_000267.3(NF1):c.3048T>A (p.Cys1016Ter) rs1135402840
NM_000267.3(NF1):c.3053T>A (p.Leu1018Ter)
NM_000267.3(NF1):c.3060del (p.Glu1020_Val1021insTer) rs1555614521
NM_000267.3(NF1):c.3064del (p.Val1021_Met1022insTer) rs878853881
NM_000267.3(NF1):c.3075del (p.Arg1026fs) rs1555614526
NM_000267.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_000267.3(NF1):c.3089C>G (p.Ser1030Ter) rs1567849864
NM_000267.3(NF1):c.3094dup (p.Cys1032fs) rs1555614535
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3111dup (p.Arg1038Ter) rs1131691127
NM_000267.3(NF1):c.3113+1G>A rs267606599
NM_000267.3(NF1):c.3113+1G>T rs267606599
NM_000267.3(NF1):c.3113+5G>A rs1555614549
NM_000267.3(NF1):c.311_312del (p.Arg103_Leu104insTer) rs1555606053
NM_000267.3(NF1):c.3139_3140del (p.Asp1047fs) rs863224490
NM_000267.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_000267.3(NF1):c.3158C>G (p.Ser1053Ter)
NM_000267.3(NF1):c.3161_3165del (p.Asn1054fs) rs1555614642
NM_000267.3(NF1):c.3186dup (p.Cys1063fs)
NM_000267.3(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_000267.3(NF1):c.3198-2A>G rs1131691089
NM_000267.3(NF1):c.3212del (p.Ala1071fs)
NM_000267.3(NF1):c.3214dup (p.Ser1072fs) rs1555614825
NM_000267.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_000267.3(NF1):c.3250_3251dup (p.Gln1086fs) rs1555614845
NM_000267.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_000267.3(NF1):c.328del (p.Val110fs) rs1567817865
NM_000267.3(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_000267.3(NF1):c.3315-1G>C rs1567850984
NM_000267.3(NF1):c.332_335del (p.Lys111fs) rs1135402787
NM_000267.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_000267.3(NF1):c.3361G>T (p.Glu1121Ter) rs1567851029
NM_000267.3(NF1):c.3370dup (p.Ser1124fs)
NM_000267.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_000267.3(NF1):c.3384del (p.Gly1129fs) rs1567851054
NM_000267.3(NF1):c.338dup (p.Leu113fs)
NM_000267.3(NF1):c.3402_3405dup (p.Arg1136fs)
NM_000267.3(NF1):c.3429_3432dup (p.Thr1145fs) rs1135402842
NM_000267.3(NF1):c.3431_3432dup (p.Thr1145fs) rs1555614966
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.3447G>C (p.Met1149Ile)
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447_3448dup (p.Ser1150fs)
NM_000267.3(NF1):c.3456dup (p.Leu1153fs)
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3461dup (p.Asn1154fs)
NM_000267.3(NF1):c.3484dup (p.Met1162fs) rs1555614977
NM_000267.3(NF1):c.3494T>A (p.Ile1165Lys) rs786204211
NM_000267.3(NF1):c.3496+57_4772+2639dup
NM_000267.3(NF1):c.3497delG rs1567851231
NM_000267.3(NF1):c.3500T>G (p.Leu1167Ter) rs786204253
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_000267.3(NF1):c.3567del (p.Gly1190fs) rs1060500271
NM_000267.3(NF1):c.3591dup (p.Glu1198fs) rs1135402844
NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_000267.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732
NM_000267.3(NF1):c.3623T>A (p.Leu1208Ter) rs1060500374
NM_000267.3(NF1):c.3657dup (p.Glu1220fs) rs1567851445
NM_000267.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_000267.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_000267.3(NF1):c.3692_3708del (p.Val1231fs) rs1135402848
NM_000267.3(NF1):c.3695del (p.Pro1232fs) rs1567851532
NM_000267.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_000267.3(NF1):c.3707G>A (p.Trp1236Ter) rs1252674239
NM_000267.3(NF1):c.3708+598_4772+16224del
NM_000267.3(NF1):c.3709-1G>A rs1555615431
NM_000267.3(NF1):c.3709-266_7259-397delinsCAG
NM_000267.3(NF1):c.3709-2A>T
NM_000267.3(NF1):c.3709-941_3974+2711del
NM_000267.3(NF1):c.370del (p.Cys124fs)
NM_000267.3(NF1):c.3712G>T (p.Glu1238Ter) rs1060500346
NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.3732_3742del (p.Thr1245fs)
NM_000267.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_000267.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_000267.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_000267.3(NF1):c.3773G>A (p.Trp1258Ter) rs1555615458
NM_000267.3(NF1):c.3784del (p.Ser1262fs) rs1567852567
NM_000267.3(NF1):c.3818_3819CT[2] (p.Phe1275fs) rs1555615472
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.3870+1G>T
NM_000267.3(NF1):c.3871-2A>G rs1131691077
NM_000267.3(NF1):c.3897del (p.Lys1299fs) rs878853890
NM_000267.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.3974+1G>A
NM_000267.3(NF1):c.3974+1G>C rs1567852849
NM_000267.3(NF1):c.3975-1922_4111-2448delinsTTTACTTAGGT
NM_000267.3(NF1):c.3975-2A>G rs864622431
NM_000267.3(NF1):c.397del (p.Glu133fs) rs878853891
NM_000267.3(NF1):c.3986C>A (p.Ser1329Ter) rs1060500319
NM_000267.3(NF1):c.4000G>T (p.Glu1334Ter)
NM_000267.3(NF1):c.4000del (p.Glu1334fs) rs1135402851
NM_000267.3(NF1):c.4020del (p.Gln1341fs) rs1567858318
NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_000267.3(NF1):c.4030G>T (p.Glu1344Ter) rs1555617328
NM_000267.3(NF1):c.4044del (p.His1348fs) rs1567858344
NM_000267.3(NF1):c.4062del (p.Ser1355fs)
NM_000267.3(NF1):c.4068_4069del (p.Glu1356fs)
NM_000267.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_000267.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4108del (p.Gln1370fs)
NM_000267.3(NF1):c.4110+1G>A rs1555617383
NM_000267.3(NF1):c.4110+1G>T rs1555617383
NM_000267.3(NF1):c.4166del (p.Phe1389fs) rs1555618511
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4191del (p.Ile1397fs) rs1135402855
NM_000267.3(NF1):c.4199del (p.Pro1400fs) rs1567861977
NM_000267.3(NF1):c.4230_4231dup (p.Pro1411fs) rs1555618552
NM_000267.3(NF1):c.4243G>T (p.Glu1415Ter) rs876660428
NM_000267.3(NF1):c.4253T>A (p.Leu1418Ter) rs1567862071
NM_000267.3(NF1):c.4255A>G (p.Lys1419Glu) rs199474790
NM_000267.3(NF1):c.4261del (p.Met1421fs) rs1135402856
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269+1G>T
NM_000267.3(NF1):c.4269+1del rs1567862095
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4277A>C (p.Gln1426Pro) rs786204157
NM_000267.3(NF1):c.4278G>C (p.Gln1426His) rs876660206
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4306A>G (p.Lys1436Glu) rs878853893
NM_000267.3(NF1):c.4312G>T (p.Glu1438Ter)
NM_000267.3(NF1):c.4316_4317AT[3] (p.Met1440fs) rs1135402859
NM_000267.3(NF1):c.4341del (p.Ser1449fs)
NM_000267.3(NF1):c.4367+1G>A
NM_000267.3(NF1):c.4368-391_4515-122delins105
NM_000267.3(NF1):c.4368-?_5943+?del
NM_000267.3(NF1):c.4375del (p.Asp1460fs) rs1555618806
NM_000267.3(NF1):c.4393del (p.Cys1465fs) rs1567862860
NM_000267.3(NF1):c.4397del (p.Pro1466fs) rs1135402861
NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly) rs199474743
NM_000267.3(NF1):c.4418del (p.His1473fs)
NM_000267.3(NF1):c.4419_4420del (p.His1473fs) rs1555618821
NM_000267.3(NF1):c.4420dup (p.Ser1474fs) rs878853896
NM_000267.3(NF1):c.4432delinsTG (p.Ile1478fs)
NM_000267.3(NF1):c.4457T>G (p.Leu1486Ter) rs1135402863
NM_000267.3(NF1):c.4463del (p.Arg1488fs) rs1567862956
NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) rs1567862991
NM_000267.3(NF1):c.4483G>T (p.Glu1495Ter) rs786203390
NM_000267.3(NF1):c.4495C>T (p.Gln1499Ter) rs1060500242
NM_000267.3(NF1):c.449del (p.Phe150fs) rs1567817974
NM_000267.3(NF1):c.4511dup (p.Asn1504fs) rs1555618862
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4514+1G>T rs1279529138
NM_000267.3(NF1):c.4515-2A>G rs1555618996
NM_000267.3(NF1):c.4515-343_8314+3380del
NM_000267.3(NF1):c.4518del (p.His1507fs)
NM_000267.3(NF1):c.4523A>G (p.Lys1508Arg) rs1555619001
NM_000267.3(NF1):c.4535del (p.Arg1512fs) rs1060500292
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4554_4567dup (p.Ala1523fs) rs1567863580
NM_000267.3(NF1):c.4555del (p.Ala1519fs)
NM_000267.3(NF1):c.4568del (p.Ala1523fs)
NM_000267.3(NF1):c.4572C>G (p.Tyr1524Ter) rs754023358
NM_000267.3(NF1):c.4600del (p.Ala1534fs) rs1567863614
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000267.3(NF1):c.4621del (p.Asn1542fs) rs1555619041
NM_000267.3(NF1):c.4640del (p.Lys1547fs) rs1555619052
NM_000267.3(NF1):c.4640dup (p.Phe1548fs) rs1555619052
NM_000267.3(NF1):c.4648G>T (p.Glu1550Ter) rs1567863648
NM_000267.3(NF1):c.4661+1660_4773-8837del
NM_000267.3(NF1):c.4661+1G>A rs1555619056
NM_000267.3(NF1):c.4661+1G>C rs1555619056
NM_000267.3(NF1):c.4662-1076_4772+1300delins260
NM_000267.3(NF1):c.4666C>T (p.Gln1556Ter) rs797044942
NM_000267.3(NF1):c.4675_4682delinsAAAAAGG (p.Glu1559fs)
NM_000267.3(NF1):c.4680dup (p.Glu1561fs) rs1567864972
NM_000267.3(NF1):c.4684_4685dup (p.Phe1563fs) rs1555619397
NM_000267.3(NF1):c.4686del (p.Glu1562fs) rs1567864983
NM_000267.3(NF1):c.4707_4714del (p.Leu1569fs) rs1555619402
NM_000267.3(NF1):c.4720C>T (p.Gln1574Ter)
NM_000267.3(NF1):c.4720del (p.Gln1574fs) rs1555619404
NM_000267.3(NF1):c.4755_4759del (p.Phe1585fs) rs1555619413
NM_000267.3(NF1):c.4756del (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4769_4771delinsAC (p.Arg1590fs)
NM_000267.3(NF1):c.4772+1G>A rs1085307819
NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC
NM_000267.3(NF1):c.4773-23713_7907+14del
NM_000267.3(NF1):c.4786_4790delinsATATCAG (p.Gln1596fs)
NM_000267.3(NF1):c.479+1G>A rs1555606137
NM_000267.3(NF1):c.479+5G>A rs1567818033
NM_000267.3(NF1):c.480-134_8315-6206del
NM_000267.3(NF1):c.480-2989_586+3445del
NM_000267.3(NF1):c.4808_4809TA[3] (p.His1605fs) rs1555533284
NM_000267.3(NF1):c.4809dup (p.Tyr1604fs)
NM_000267.3(NF1):c.480delG
NM_000267.3(NF1):c.4829del (p.Thr1609_Leu1610insTer) rs1555533290
NM_000267.3(NF1):c.4842T>G (p.Tyr1614Ter) rs948982039
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4854T>A (p.Tyr1618Ter) rs1555533297
NM_000267.3(NF1):c.4894_4901del (p.Arg1632fs)
NM_000267.3(NF1):c.4903del (p.Thr1635fs) rs1567611351
NM_000267.3(NF1):c.4904_4905del (p.Thr1635fs) rs1555533323
NM_000267.3(NF1):c.4912_4913CT[1] (p.Lys1640fs) rs1085307459
NM_000267.3(NF1):c.4920_4922delinsCTTA (p.Lys1640fs) rs1555533326
NM_000267.3(NF1):c.4922G>A (p.Trp1641Ter) rs1567611375
NM_000267.3(NF1):c.4926del (p.Phe1642fs) rs1567611380
NM_000267.3(NF1):c.4935dup (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.4941_7127-2901del
NM_000267.3(NF1):c.4950C>A (p.Tyr1650Ter) rs1060500255
NM_000267.3(NF1):c.4950_4954dup (p.Asn1652fs) rs1555533336
NM_000267.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_000267.3(NF1):c.4976_4978delinsT (p.Tyr1659fs) rs1567611457
NM_000267.3(NF1):c.4992G>A (p.Trp1664Ter) rs1555533354
NM_000267.3(NF1):c.4999G>T (p.Glu1667Ter) rs1135402869
NM_000267.3(NF1):c.5020_5021dup (p.Leu1675fs) rs1555533366
NM_000267.3(NF1):c.5024del (p.Leu1675fs) rs1555533368
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5094del (p.Ile1698fs) rs1555533382
NM_000267.3(NF1):c.5115del (p.Pro1706fs) rs1555533393
NM_000267.3(NF1):c.5129T>A (p.Leu1710Ter) rs1567611604
NM_000267.3(NF1):c.5205+5G>A rs864622551
NM_000267.3(NF1):c.5206-1G>A rs876660141
NM_000267.3(NF1):c.5206-2A>G rs1555533548
NM_000267.3(NF1):c.5206-2A>T rs1555533548
NM_000267.3(NF1):c.5206-41_5228del rs1555533543
NM_000267.3(NF1):c.5223_5226del (p.Val1741_Gln1742insTer)
NM_000267.3(NF1):c.5232_5233del (p.Ala1746fs) rs1555533552
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5254dup (p.Leu1752fs) rs1555533561
NM_000267.3(NF1):c.5284del (p.Tyr1762fs) rs1567612415
NM_000267.3(NF1):c.529dup (p.Ile177fs) rs1555607093
NM_000267.3(NF1):c.5305G>T (p.Glu1769Ter)
NM_000267.3(NF1):c.5313_5316dup (p.Val1773fs) rs1567612435
NM_000267.3(NF1):c.5364dup (p.Leu1789fs) rs1567612483
NM_000267.3(NF1):c.538_541del (p.Leu180fs) rs1135402789
NM_000267.3(NF1):c.5398del (p.Val1800fs) rs1567612531
NM_000267.3(NF1):c.5406_5407insTT (p.Ile1803fs)
NM_000267.3(NF1):c.5406dup (p.Ile1803fs) rs267606605
NM_000267.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_000267.3(NF1):c.5425C>A (p.Arg1809Ser) rs797045139
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5426G>C (p.Arg1809Pro) rs771529172
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5429G>A (p.Trp1810Ter) rs1135402872
NM_000267.3(NF1):c.5431del (p.Glu1811fs)
NM_000267.3(NF1):c.5438C>G (p.Ser1813Ter)
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.5448dup (p.Ser1817fs) rs267606596
NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter) rs786203570
NM_000267.3(NF1):c.5465_5466insT (p.Lys1823fs) rs267606597
NM_000267.3(NF1):c.5470dup (p.Ile1824fs)
NM_000267.3(NF1):c.5472del (p.Arg1825fs) rs1567612647
NM_000267.3(NF1):c.5483_5490del (p.Asp1828fs) rs1135402873
NM_000267.3(NF1):c.5485_5486del (p.Val1829fs) rs1555533636
NM_000267.3(NF1):c.5498T>G (p.Leu1833Arg) rs878853903
NM_000267.3(NF1):c.5498del (p.Leu1833fs) rs1555533644
NM_000267.3(NF1):c.5508_5509delinsT (p.Ala1837fs) rs1135402875
NM_000267.3(NF1):c.5523del (p.Gly1842fs) rs1555533648
NM_000267.3(NF1):c.5543T>G (p.Leu1848Ter)
NM_000267.3(NF1):c.5546+1G>A rs1131691117
NM_000267.3(NF1):c.5546+336_5943+244del
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5574del (p.Ala1858_Leu1859insTer) rs1135402877
NM_000267.3(NF1):c.5582dup (p.Cys1861fs) rs1567613604
NM_000267.3(NF1):c.5587T>C (p.Phe1863Leu) rs1060500378
NM_000267.3(NF1):c.5606_5627del (p.Gly1869fs)
NM_000267.3(NF1):c.5608C>T (p.Gln1870Ter) rs878853904
NM_000267.3(NF1):c.5609dup (p.Leu1871fs) rs1135402878
NM_000267.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_000267.3(NF1):c.5613dup (p.Leu1872fs) rs1475358670
NM_000267.3(NF1):c.5617G>T (p.Glu1873Ter)
NM_000267.3(NF1):c.5624C>G (p.Ser1875Ter) rs1135402879
NM_000267.3(NF1):c.5636del (p.Ile1879fs) rs1060500353
NM_000267.3(NF1):c.5660_5679del (p.Ile1887fs) rs1567613682
NM_000267.3(NF1):c.5664_5665CT[1] (p.Ser1889fs)
NM_000267.3(NF1):c.5667dup (p.Ile1890fs) rs876660212
NM_000267.3(NF1):c.5668_5671dup (p.Ser1891delinsAsnTer) rs1555533871
NM_000267.3(NF1):c.569T>G (p.Leu190Ter) rs1555607112
NM_000267.3(NF1):c.569del (p.Lys189_Leu190insTer) rs1555607110
NM_000267.3(NF1):c.5708T>A (p.Leu1903Ter)
NM_000267.3(NF1):c.5710G>T (p.Glu1904Ter) rs137854565
NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) rs786203896
NM_000267.3(NF1):c.5723del (p.Glu1908fs) rs1555533883
NM_000267.3(NF1):c.5739del (p.Phe1913fs)
NM_000267.3(NF1):c.5749+189_6999+1035del
NM_000267.3(NF1):c.5749+2T>C rs1555533887
NM_000267.3(NF1):c.5749+332A>G rs863224491
NM_000267.3(NF1):c.5749+4A>T
NM_000267.3(NF1):c.5749+6_6858+633delins130
NM_000267.3(NF1):c.5749+750_5943+244del
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5750-1086_5943+244del
NM_000267.3(NF1):c.5750-1748_6184delinsCTA
NM_000267.3(NF1):c.5750-374_5944-176del
NM_000267.3(NF1):c.5750-460_5943+244del rs1555534307
NM_000267.3(NF1):c.5767del (p.Leu1923fs) rs1555534378
NM_000267.3(NF1):c.5770del (p.Cys1924fs) rs1555534379
NM_000267.3(NF1):c.5776G>T (p.Glu1926Ter) rs587782088
NM_000267.3(NF1):c.5780dup (p.Tyr1927Ter) rs1135402881
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
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.5845A>T (p.Arg1949Ter) rs267606595
NM_000267.3(NF1):c.5845_5846insTA (p.Arg1949fs) rs1060500354
NM_000267.3(NF1):c.586+1209_1845+35del
NM_000267.3(NF1):c.586+1G>A rs1555607126
NM_000267.3(NF1):c.5862del (p.Asp1955fs) rs1060500349
NM_000267.3(NF1):c.587-282_8315-3687del
NM_000267.3(NF1):c.5880del (p.Met1960fs) rs1567615872
NM_000267.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_000267.3(NF1):c.5908_5915del (p.Ile1971fs)
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.592del (p.Ala198fs) rs1567825858
NM_000267.3(NF1):c.5938G>A (p.Gly1980Arg) rs199474751
NM_000267.3(NF1):c.5941C>T (p.Gln1981Ter) rs1567615941
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5943+265_7000-999delins15
NM_000267.3(NF1):c.5943+448_7127-414del
NM_000267.3(NF1):c.5944-2A>G rs1555534595
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.594del (p.Phe199fs) rs1555608647
NM_000267.3(NF1):c.60+24136_587-5022del
NM_000267.3(NF1):c.60+3120_3975-326del
NM_000267.3(NF1):c.6027dup (p.Met2010fs) rs1555534611
NM_000267.3(NF1):c.603del (p.Phe201fs) rs1135402792
NM_000267.3(NF1):c.607del (p.Ala203fs) rs1567825887
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_000267.3(NF1):c.6111del (p.Ile2037fs) rs1567616894
NM_000267.3(NF1):c.6134del (p.Thr2045fs) rs1135402883
NM_000267.3(NF1):c.6148C>T (p.Gln2050Ter) rs1135402884
NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) rs137854561
NM_000267.3(NF1):c.6212del (p.Asn2071fs) rs1555534697
NM_000267.3(NF1):c.6253_6296dup (p.Ser2100_Thr2101insLeuLeuLeuSerTer) rs1567617045
NM_000267.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_000267.3(NF1):c.6263del (p.Phe2088fs) rs1135402885
NM_000267.3(NF1):c.6278_6279del (p.Gly2093fs)
NM_000267.3(NF1):c.6302_6303insGG (p.His2102fs) rs1555534751
NM_000267.3(NF1):c.6330_6331CT[2] (p.Leu2112fs) rs1567617129
NM_000267.3(NF1):c.6339T>A (p.Cys2113Ter) rs1555534766
NM_000267.3(NF1):c.6364+2T>G rs1567617158
NM_000267.3(NF1):c.6365-2A>G rs1060500312
NM_000267.3(NF1):c.6373A>T (p.Lys2125Ter)
NM_000267.3(NF1):c.6376C>T (p.Gln2126Ter)
NM_000267.3(NF1):c.6389_6393delinsA (p.Leu2130fs) rs1135402887
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6424_6425del (p.Leu2142fs) rs1060500338
NM_000267.3(NF1):c.6427C>A (p.Leu2143Met) rs137854551
NM_000267.3(NF1):c.6475del (p.Ser2159fs)
NM_000267.3(NF1):c.6477del (p.Ser2160fs)
NM_000267.3(NF1):c.6482del (p.Tyr2161fs) rs1135402889
NM_000267.3(NF1):c.6483_6487del (p.Tyr2161_Asp2163delinsTer) rs1135402890
NM_000267.3(NF1):c.649G>T (p.Glu217Ter) rs878853909
NM_000267.3(NF1):c.6511T>A (p.Tyr2171Asn) rs267606598
NM_000267.3(NF1):c.6514G>T (p.Glu2172Ter) rs1135402891
NM_000267.3(NF1):c.6514_6515GA[4] (p.Glu2174fs) rs1131691084
NM_000267.3(NF1):c.653del (p.Lys218fs)
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6585C>A (p.Cys2195Ter)
NM_000267.3(NF1):c.6604del (p.Cys2202fs) rs1555534917
NM_000267.3(NF1):c.6636del (p.Gln2213fs) rs1060500268
NM_000267.3(NF1):c.6637C>T (p.Gln2213Ter) rs1567617727
NM_000267.3(NF1):c.6641+1G>A rs1060500376
NM_000267.3(NF1):c.6641+1G>T rs1060500376
NM_000267.3(NF1):c.6641+1del
NM_000267.3(NF1):c.6641+2T>G rs1555534928
NM_000267.3(NF1):c.6659dup (p.Asn2220fs) rs1567617849
NM_000267.3(NF1):c.6663_6664insGGAAA (p.Ser2222fs) rs1555534950
NM_000267.3(NF1):c.6670C>T (p.Gln2224Ter)
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.668G>A (p.Trp223Ter) rs1567826110
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.6731del (p.Lys2244fs)
NM_000267.3(NF1):c.6756+3A>G rs1555534966
NM_000267.3(NF1):c.6772_6773dup (p.Leu2258fs)
NM_000267.3(NF1):c.6789_6792del (p.Tyr2264fs) rs1555535032
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
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.6792del (p.Thr2263_Tyr2264insTer) rs1555535042
NM_000267.3(NF1):c.6798_6801dup (p.Val2268fs) rs1567618250
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.6815del (p.Ala2272fs) rs1135402895
NM_000267.3(NF1):c.681T>A (p.Tyr227Ter)
NM_000267.3(NF1):c.681T>G (p.Tyr227Ter)
NM_000267.3(NF1):c.6837dup (p.Leu2280fs) rs1555535050
NM_000267.3(NF1):c.6841C>T (p.Gln2281Ter) rs1057518807
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+1G>T rs1060500355
NM_000267.3(NF1):c.6889dup (p.Val2297fs) rs1057519369
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.6952G>T (p.Glu2318Ter) rs1060500359
NM_000267.3(NF1):c.6967del (p.Thr2323fs) rs1135402897
NM_000267.3(NF1):c.6971_6978del (p.Leu2324fs) rs1555535192
NM_000267.3(NF1):c.6974_6977del (p.Asp2325fs)
NM_000267.3(NF1):c.6999+1G>A rs863224492
NM_000267.3(NF1):c.6999+1_6999+5del rs1567619134
NM_000267.3(NF1):c.7000-1G>T rs1131691114
NM_000267.3(NF1):c.7013_7039del (p.Val2338_Leu2346del) rs1555535403
NM_000267.3(NF1):c.7044G>A (p.Trp2348Ter) rs1060500286
NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter) rs1555535417
NM_000267.3(NF1):c.7068del (p.Phe2356fs)
NM_000267.3(NF1):c.7089_7090insTT (p.Asn2364fs)
NM_000267.3(NF1):c.7089dup (p.Asn2364Ter) rs1555535434
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7095del (p.Phe2365fs)
NM_000267.3(NF1):c.7123A>T (p.Lys2375Ter)
NM_000267.3(NF1):c.7125del (p.Tyr2377fs) rs777872719
NM_000267.3(NF1):c.7126+3A>C rs267606610
NM_000267.3(NF1):c.7127-2A>G rs772348111
NM_000267.3(NF1):c.7128delG
NM_000267.3(NF1):c.715C>T (p.Gln239Ter)
NM_000267.3(NF1):c.7175T>A (p.Leu2392Ter) rs775181940
NM_000267.3(NF1):c.7190_7191CT[1] (p.Leu2398fs)
NM_000267.3(NF1):c.7197dup (p.Asn2400Ter) rs1135402901
NM_000267.3(NF1):c.7198_7201AACA[1] (p.Lys2401fs) rs1567623480
NM_000267.3(NF1):c.7204_7205CA[1] (p.His2402fs) rs878853913
NM_000267.3(NF1):c.7215T>A (p.Cys2405Ter) rs1567623508
NM_000267.3(NF1):c.7224del (p.Phe2408fs) rs1135402902
NM_000267.3(NF1):c.7238_7239AG[1] (p.Ser2414fs)
NM_000267.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_000267.3(NF1):c.7251C>G (p.Tyr2417Ter) rs1060500385
NM_000267.3(NF1):c.7257del (p.Ala2420fs) rs1060500300
NM_000267.3(NF1):c.7261_7264TTAC[1] (p.Leu2422fs)
NM_000267.3(NF1):c.7262dup (p.Leu2421fs)
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7274_7275del (p.Val2424_Ser2425insTer) rs1135402904
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457
NM_000267.3(NF1):c.730+1G>C rs1060500274
NM_000267.3(NF1):c.731-2A>T rs1555608924
NM_000267.3(NF1):c.731-302_8314+3681del
NM_000267.3(NF1):c.7310del (p.Arg2437fs) rs1060500335
NM_000267.3(NF1):c.7320del (p.Leu2441fs) rs1135402905
NM_000267.3(NF1):c.7329del (p.Asp2444fs) rs786202180
NM_000267.3(NF1):c.7330del (p.Asp2444fs)
NM_000267.3(NF1):c.7346dup (p.Asn2449fs) rs1135402906
NM_000267.3(NF1):c.7352del (p.Pro2451fs)
NM_000267.3(NF1):c.7365T>A (p.Tyr2455Ter) rs181397225
NM_000267.3(NF1):c.7392T>A (p.Tyr2464Ter)
NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter) rs863224493
NM_000267.3(NF1):c.7433del (p.Gly2478fs) rs1555536352
NM_000267.3(NF1):c.7442del (p.Gly2481fs) rs1555536358
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.750del (p.Phe250fs) rs1567826633
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7528C>T (p.Gln2510Ter) rs1555536372
NM_000267.3(NF1):c.7544del (p.Lys2515fs) rs1060500327
NM_000267.3(NF1):c.7549del (p.Gly2518fs)
NM_000267.3(NF1):c.7599_7601delinsAG (p.Lys2534fs) rs1567626632
NM_000267.3(NF1):c.7638del (p.Lys2547_Met2548insTer) rs1060500295
NM_000267.3(NF1):c.7638dup (p.Lys2547fs) rs1060500295
NM_000267.3(NF1):c.7682_7683AG[1] (p.Arg2562fs) rs1135402907
NM_000267.3(NF1):c.7682dup (p.Arg2562fs) rs1555536683
NM_000267.3(NF1):c.7694_7695dup (p.Ser2566fs)
NM_000267.3(NF1):c.7697C>G (p.Ser2566Ter) rs1131691090
NM_000267.3(NF1):c.7719del (p.Val2575fs) rs1135402908
NM_000267.3(NF1):c.7721_7722del (p.Lys2574fs)
NM_000267.3(NF1):c.7727C>A (p.Ser2576Ter) rs1567626945
NM_000267.3(NF1):c.7734dup (p.Glu2579Ter) rs863224837
NM_000267.3(NF1):c.7748del (p.Leu2583fs) rs1555536701
NM_000267.3(NF1):c.7843C>T (p.Gln2615Ter) rs567988442
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7854_7855insA (p.Tyr2619fs)
NM_000267.3(NF1):c.7857T>G (p.Tyr2619Ter) rs1060500333
NM_000267.3(NF1):c.7858del (p.Glu2620fs) rs1567627210
NM_000267.3(NF1):c.7863C>G (p.Tyr2621Ter) rs1567627217
NM_000267.3(NF1):c.7868dup (p.Glu2624fs) rs878853918
NM_000267.3(NF1):c.7884_8315-5528del
NM_000267.3(NF1):c.7892_7893del (p.Lys2631fs)
NM_000267.3(NF1):c.7893dup (p.Val2632fs) rs1555536765
NM_000267.3(NF1):c.7896del (p.Pro2634fs)
NM_000267.3(NF1):c.789del (p.Ala264fs) rs1135402795
NM_000267.3(NF1):c.7901del (p.Pro2634fs) rs1567627268
NM_000267.3(NF1):c.7907+149_8097+723dup
NM_000267.3(NF1):c.790del (p.Ala264fs)
NM_000267.3(NF1):c.7919T>A (p.Leu2640Ter) rs1567627709
NM_000267.3(NF1):c.7926dup (p.Lys2643Ter) rs1555536882
NM_000267.3(NF1):c.792del (p.Ala265fs) rs1135402796
NM_000267.3(NF1):c.7954C>T (p.Gln2652Ter) rs1567627751
NM_000267.3(NF1):c.7970del (p.Leu2656_Leu2657insTer) rs1567627755
NM_000267.3(NF1):c.7989_7990TG[1] (p.Val2664fs)
NM_000267.3(NF1):c.7994_7995AG[1] (p.Ser2666fs) rs1060500387
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000267.3(NF1):c.8003del (p.Val2668fs) rs1555536923
NM_000267.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_000267.3(NF1):c.8021_8026delinsA (p.Pro2674fs)
NM_000267.3(NF1):c.8021del (p.Pro2674fs) rs1555536928
NM_000267.3(NF1):c.8042dup (p.Tyr2681Ter) rs267606601
NM_000267.3(NF1):c.8049_8050del (p.Ser2684fs) rs1555536947
NM_000267.3(NF1):c.808C>T (p.Gln270Ter)
NM_000267.3(NF1):c.8095A>T (p.Lys2699Ter)
NM_000267.3(NF1):c.8142_8151del (p.Asp2715fs)
NM_000267.3(NF1):c.844C>T (p.Gln282Ter)
NM_000267.3(NF1):c.87_88CA[2] (p.His31fs) rs1567814432
NM_000267.3(NF1):c.882_885del (p.Met294fs) rs1567826819
NM_000267.3(NF1):c.888+1G>A rs1135402799
NM_000267.3(NF1):c.888+3798_5750-2053del
NM_000267.3(NF1):c.888+5515_1261-1635del
NM_000267.3(NF1):c.888+8334_1721+34delinsTC
NM_000267.3(NF1):c.889-1633_7395-667del
NM_000267.3(NF1):c.889-1G>C rs587781517
NM_000267.3(NF1):c.889-2A>G rs878853922
NM_000267.3(NF1):c.889-2del rs1567834983
NM_000267.3(NF1):c.889-453_908del rs1555610774
NM_000267.3(NF1):c.889-8107_1261-278del
NM_000267.3(NF1):c.889-8381_6757-5del
NM_000267.3(NF1):c.889-894_1261-284del
NM_000267.3(NF1):c.908del (p.Leu303fs) rs1555610848
NM_000267.3(NF1):c.909_910delinsTT (p.Arg304Ter) rs1555610854
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000267.3(NF1):c.920_921delinsA (p.Leu307fs) rs1555610860
NM_000267.3(NF1):c.924_927del (p.Gly309fs) rs1060500301
NM_000267.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_000267.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_000267.3(NF1):c.955dup (p.Ser319fs) rs876660931
NM_000267.3(NF1):c.964del (p.Ile322fs)
NM_000267.3(NF1):c.972T>A (p.Cys324Ter)
NM_000267.3(NF1):c.97A>T (p.Lys33Ter)
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000267.3(NF1):c.981_982GT[1] (p.Leu327_Cys328insTer) rs1555610893
NM_000267.3(NF1):c.988_995del (p.Ala330fs) rs1567835161
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_000267.3(NF1):c.996_999del (p.Tyr333fs) rs1555610900
NM_000267.3(NF1):c.997del (p.Tyr333fs) rs1567835183
NM_000267.3(NF1):c.999C>G (p.Tyr333Ter)
NM_000267.3(NF1):c.99del (p.Val34fs) rs1060500320
NM_000267.3:c.3975-1046_4110+902deins333
NM_000267.3:c.3975-364_4515-510indel810
NM_000267.3:c.5547-961+5943+244del
NM_000267.3:c.7566_8314+3321_delinsCGCCACGGC

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