ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic for RASopathy

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 729
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NC_000017.10:g.(?_29475515)_(29490414_?)dup
NC_000017.10:g.(?_29482991)_(29548957_?)dup
NC_000017.10:g.(?_29508426)_(29510472_?)dup
NC_000017.10:g.(?_29540877)_(29563299_?)dup
NC_000017.10:g.(?_29541449)_(29557963_?)dup
NC_000017.10:g.(?_29556023)_(29563059_?)dup
NC_000017.10:g.(?_29556977)_(29561861_?)del
NC_000017.10:g.(?_29562619)_(29563299_?)dup
NC_000017.10:g.(?_29575982)_(29587553_?)del
NC_000017.10:g.(?_29575992)_(29587543_?)del
NC_000017.10:g.(?_29585352)_(29588885_?)dup
NC_000017.10:g.(?_29652828)_(29657526_?)dup
NC_000017.10:g.(?_29663341)_(29665833_?)del
NC_000017.10:g.(?_29679379)_(29680920_?)del
NC_000017.11:g.(?_31169881)_(31249129_?)dup
NC_000017.11:g.(?_31336313)_(31340665_?)del
NC_000017.11:g.(?_31342999)_(31360713_?)del
NM_000267.3(NF1):c.3015_3315-230del
NM_000267.3(NF1):c.5944-?_6858+?del
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1038del (p.Gln347fs) rs2143874352
NM_001042492.3(NF1):c.1061_1062+12del
NM_001042492.3(NF1):c.1062+2dup rs2066510417
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1062_1062+6del rs2066510244
NM_001042492.3(NF1):c.1063-1G>C rs1555610955
NM_001042492.3(NF1):c.1063-3_1063del
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_001042492.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_001042492.3(NF1):c.108_111dup (p.His38Ter) rs2065655815
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs) rs2066520145
NM_001042492.3(NF1):c.1139T>A (p.Leu380His) rs1555611004
NM_001042492.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs) rs1597682159
NM_001042492.3(NF1):c.1183_1185+2del rs1555611039
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1186-1G>T rs876660782
NM_001042492.3(NF1):c.1186-2A>G rs1373365576
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs) rs1597682729
NM_001042492.3(NF1):c.122A>T (p.Glu41Val) rs786203038
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_001042492.3(NF1):c.1251_1260+25del rs2066528976
NM_001042492.3(NF1):c.1254del (p.Thr419fs) rs761430357
NM_001042492.3(NF1):c.1260+1del rs2143887087
NM_001042492.3(NF1):c.1260+2T>C rs1555611110
NM_001042492.3(NF1):c.1260+2T>G rs1555611110
NM_001042492.3(NF1):c.1260+2_1260+3insTT rs1597682922
NM_001042492.3(NF1):c.1260+5G>C rs1060500253
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.128T>A (p.Leu43Gln) rs1555604899
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1392+2_1392+8del
NM_001042492.3(NF1):c.1392+2del rs1597689068
NM_001042492.3(NF1):c.1393-1G>C rs1131691131
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1393-3_1393-2del rs2066785062
NM_001042492.3(NF1):c.1393-592A>G rs2066773116
NM_001042492.3(NF1):c.1393-5_1398del rs2143958483
NM_001042492.3(NF1):c.1393-7_1393-2del
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu) rs1555612271
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter) rs1597698330
NM_001042492.3(NF1):c.140C>T (p.Ser47Phe)
NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu) rs2066785949
NM_001042492.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1502_1503insGGAAATTCA (p.Ile500_His501insGlnGluIle)
NM_001042492.3(NF1):c.1513A>G (p.Lys505Glu) rs2066787606
NM_001042492.3(NF1):c.1527+1159C>T rs878853868
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1527+2T>C rs1064796700
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1527+5G>C rs1060500352
NM_001042492.3(NF1):c.1527+5G>T rs1060500352
NM_001042492.3(NF1):c.1528-2A>C rs1368005133
NM_001042492.3(NF1):c.1528-2A>G rs1368005133
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_001042492.3(NF1):c.1586T>G (p.Leu529Arg)
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1634C>A (p.Ala545Glu)
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1641+2T>C rs1555612867
NM_001042492.3(NF1):c.1641+2_1641+3del
NM_001042492.3(NF1):c.1641+2del rs1135402818
NM_001042492.3(NF1):c.1642-10A>G rs1597706578
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del) rs2144003808
NM_001042492.3(NF1):c.1655T>A (p.Leu552His)
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro) rs1555613193
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
NM_001042492.3(NF1):c.1658A>C (p.His553Pro) rs1064794274
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1722-26T>C rs1597708542
NM_001042492.3(NF1):c.1722-2A>C rs763983337
NM_001042492.3(NF1):c.1730T>G (p.Met577Arg)
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.173T>C (p.Leu58Pro) rs1597626094
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg) rs1597626094
NM_001042492.3(NF1):c.1745G>T (p.Cys582Phe) rs2066962321
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.175A>C (p.Thr59Pro)
NM_001042492.3(NF1):c.1808T>A (p.Ile603Lys) rs2144016800
NM_001042492.3(NF1):c.1845+1_1845+5del rs1135402822
NM_001042492.3(NF1):c.1845+2T>C rs1555613430
NM_001042492.3(NF1):c.1845+3_1845+4insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGGTA
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.1873del (p.Leu625fs)
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer) rs2066990429
NM_001042492.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_001042492.3(NF1):c.1890del (p.Gly631fs)
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs) rs2066991740
NM_001042492.3(NF1):c.1986del (p.Asn664fs) rs2066993468
NM_001042492.3(NF1):c.2001+1G>A rs2066994053
NM_001042492.3(NF1):c.2002-14C>G
NM_001042492.3(NF1):c.2002-2_2002-1del rs2151425505
NM_001042492.3(NF1):c.2002-4_2010del rs878853871
NM_001042492.3(NF1):c.2010del (p.Ala671fs) rs1597712251
NM_001042492.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2066del (p.Val689fs)
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2099del (p.Thr700fs)
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2126_2135delinsCC (p.Cys709fs)
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_001042492.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_001042492.3(NF1):c.2251+1G>C rs1555613843
NM_001042492.3(NF1):c.2251+1G>T rs1555613843
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2252-1G>C rs587781577
NM_001042492.3(NF1):c.2252-1G>T rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_001042492.3(NF1):c.2325+3A>T
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-1G>C rs1567848100
NM_001042492.3(NF1):c.2326-1G>T rs1567848100
NM_001042492.3(NF1):c.2326-2A>G rs1555613975
NM_001042492.3(NF1):c.2326-4_2326-1del rs2067037065
NM_001042492.3(NF1):c.2326-6_2338del
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly) rs876658853
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2344dup (p.Ala782fs) rs2151427470
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg) rs199474730
NM_001042492.3(NF1):c.2350T>G (p.Trp784Gly)
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.2375T>A (p.Leu792His) rs1597713777
NM_001042492.3(NF1):c.238del (p.Tyr80fs) rs2065717116
NM_001042492.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_001042492.3(NF1):c.2396_2409+4del rs2067039276
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp) rs1597629809
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2534G>T (p.Cys845Phe) rs1060500367
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_001042492.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.2693T>A (p.Leu898Gln) rs199474786
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln) rs1555605393
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup) rs2065717991
NM_001042492.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp) rs1597629882
NM_001042492.3(NF1):c.2823del (p.Ser942fs) rs2067074423
NM_001042492.3(NF1):c.2835del (p.Phe945fs) rs1567849208
NM_001042492.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_001042492.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_001042492.3(NF1):c.2851-1_2857del
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe) rs1597716277
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs) rs2067082667
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_001042492.3(NF1):c.2870_2871delinsTC (p.Asn957Ile) rs2151430516
NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.288G>A (p.Gly96=) rs1430988476
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2894T>G (p.Ile965Arg) rs1555614438
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs) rs2067083472
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.2940del (p.Glu981fs) rs2067084312
NM_001042492.3(NF1):c.2948del (p.Leu983fs) rs2067084444
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2972T>G (p.Met991Arg) rs1060500298
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.2990+1del
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2990G>C (p.Arg997Thr) rs1555614462
NM_001042492.3(NF1):c.2990G>T (p.Arg997Met) rs1555614462
NM_001042492.3(NF1):c.2991-11T>G
NM_001042492.3(NF1):c.2991-2A>C rs1555614495
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.2991-3T>G rs1597716778
NM_001042492.3(NF1):c.2991-8_3000del rs2067089729
NM_001042492.3(NF1):c.2991G>C (p.Arg997Ser) rs755501749
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs) rs2067090473
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs) rs2067090561
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr) rs2067091492
NM_001042492.3(NF1):c.3047G>T (p.Cys1016Phe) rs2067091492
NM_001042492.3(NF1):c.3048T>G (p.Cys1016Trp) rs1135402840
NM_001042492.3(NF1):c.3063_3065del (p.Met1023del) rs2151431646
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer) rs2067092112
NM_001042492.3(NF1):c.3082_3086del (p.Asp1028fs) rs2151431696
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3112A>G (p.Arg1038Gly) rs1597717017
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3113+2del
NM_001042492.3(NF1):c.3113+5G>C rs1555614549
NM_001042492.3(NF1):c.3113+5G>T
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg) rs1555614634
NM_001042492.3(NF1):c.3196del (p.Arg1066fs) rs2067102964
NM_001042492.3(NF1):c.3197+2del rs1597717694
NM_001042492.3(NF1):c.3197+491_3384del
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro) rs2067122183
NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro) rs2151433731
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala) rs1555614848
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3250_3254del (p.Pro1084fs)
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3260dup (p.Pro1087_Glu1088insTer)
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu) rs2151433891
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_001042492.3(NF1):c.3315-2A>C rs1555614914
NM_001042492.3(NF1):c.3315-8T>G rs764783865
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs) rs2067135200
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs) rs1597719490
NM_001042492.3(NF1):c.3394del (p.Arg1132fs)
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3432T>A (p.Cys1144Ter) rs2067136971
NM_001042492.3(NF1):c.3436G>C (p.Val1146Leu) rs201047812
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg) rs1131691121
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp)
NM_001042492.3(NF1):c.3467A>C (p.Asn1156Thr) rs199474764
NM_001042492.3(NF1):c.3468C>A (p.Asn1156Lys) rs147955381
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp) rs2067138342
NM_001042492.3(NF1):c.3496+3G>T rs1060500287
NM_001042492.3(NF1):c.3497-1G>A rs1555615004
NM_001042492.3(NF1):c.3497-1G>C
NM_001042492.3(NF1):c.3497-2A>T
NM_001042492.3(NF1):c.3503G>A (p.Gly1168Asp) rs2151435263
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu) rs1597719889
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser) rs199474731
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg) rs2151435424
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg) rs2151435462
NM_001042492.3(NF1):c.3572C>T (p.Thr1191Ile)
NM_001042492.3(NF1):c.3577T>A (p.Phe1193Ile) rs2151435475
NM_001042492.3(NF1):c.3577T>G (p.Phe1193Val)
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr) rs2151435523
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val) rs370820478
NM_001042492.3(NF1):c.3595A>C (p.Thr1199Pro)
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp) rs1060500374
NM_001042492.3(NF1):c.3641T>G (p.Met1214Arg) rs1567851416
NM_001042492.3(NF1):c.3649G>A (p.Asp1217Asn)
NM_001042492.3(NF1):c.3650A>T (p.Asp1217Val)
NM_001042492.3(NF1):c.3651T>G (p.Asp1217Glu) rs1135402846
NM_001042492.3(NF1):c.3676del (p.Ala1226fs)
NM_001042492.3(NF1):c.3695_3696delinsA (p.Pro1232fs)
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3708+1G>A rs1420779915
NM_001042492.3(NF1):c.3708+2dup
NM_001042492.3(NF1):c.3708+3A>T rs1555615114
NM_001042492.3(NF1):c.3708+5G>A rs1597720280
NM_001042492.3(NF1):c.3709_3714del (p.Asp1237_Glu1238del) rs2151437703
NM_001042492.3(NF1):c.3716T>G (p.Leu1239Arg) rs1597722390
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_001042492.3(NF1):c.3728T>G (p.Leu1243Arg) rs137854564
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs) rs2067186293
NM_001042492.3(NF1):c.3737T>C (p.Leu1246Pro) rs2151437777
NM_001042492.3(NF1):c.3772T>A (p.Trp1258Arg)
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg) rs1597722508
NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_001042492.3(NF1):c.3796_3797del (p.Glu1266fs) rs2151437911
NM_001042492.3(NF1):c.3818del (p.Thr1273fs) rs2067188459
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.3826del (p.Arg1276fs) rs2067188667
NM_001042492.3(NF1):c.3832A>T (p.Asn1278Tyr) rs1306874240
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile) rs2067188951
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3849AAT[1] (p.Ile1284del)
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_001042492.3(NF1):c.3870+1G>A rs1131691075
NM_001042492.3(NF1):c.3870G>C (p.Lys1290Asn) rs1555615497
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter) rs761512189
NM_001042492.3(NF1):c.3974+2T>C rs1555615567
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.3975-11_3978del
NM_001042492.3(NF1):c.4018del (p.Leu1340fs) rs2067448975
NM_001042492.3(NF1):c.4027A>C (p.Thr1343Pro) rs2151451431
NM_001042492.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs) rs2067451446
NM_001042492.3(NF1):c.4109_4110delinsCC (p.Gln1370Pro) rs2151451687
NM_001042492.3(NF1):c.4110+1del rs2151451697
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro) rs1597635936
NM_001042492.3(NF1):c.4174-2del rs2151461734
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs) rs2067620305
NM_001042492.3(NF1):c.4208del (p.Gly1403fs) rs2067621019
NM_001042492.3(NF1):c.4225dup (p.Met1409fs)
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg) rs1555618508
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile) rs2151461937
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4235G>A (p.Arg1412Lys)
NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del) rs2151461951
NM_001042492.3(NF1):c.4236A>C (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp) rs1555618518
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr) rs1555618518
NM_001042492.3(NF1):c.4252del (p.Ile1418fs) rs1783539066
NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp) rs1555618528
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter) rs758915600
NM_001042492.3(NF1):c.430dup (p.Ser144fs)
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter) rs1567862071
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4332+2T>C rs786204207
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro) rs1597745583
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr) rs2151462979
NM_001042492.3(NF1):c.4367del (p.Thr1456fs) rs2067637088
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg) rs1555618656
NM_001042492.3(NF1):c.4371A>T (p.Lys1457Asn) rs1555618658
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val) rs1555618675
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu) rs1555618675
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys) rs754639587
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg) rs754639587
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile) rs1555618677
NM_001042492.3(NF1):c.4397_4423del (p.Asp1466_Ala1474del) rs2151463132
NM_001042492.3(NF1):c.4403T>G (p.Val1468Gly) rs1135402860
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.4430+1G>C rs773151680
NM_001042492.3(NF1):c.4430+2T>C rs1555618693
NM_001042492.3(NF1):c.4431-9T>G rs1597746884
NM_001042492.3(NF1):c.4489del (p.Ser1497fs) rs2067664000
NM_001042492.3(NF1):c.4520del (p.Leu1507fs) rs2151464729
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro) rs1135402864
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4577+2T>G rs1597747184
NM_001042492.3(NF1):c.4578-20_4578-18del rs1597748617
NM_001042492.3(NF1):c.4606T>G (p.Phe1536Val)
NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del) rs2151466254
NM_001042492.3(NF1):c.4611_4612del (p.Asp1537fs)
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu) rs2151466279
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs) rs2067690116
NM_001042492.3(NF1):c.4634_4636del (p.Tyr1545del)
NM_001042492.3(NF1):c.4658del (p.Pro1553fs) rs1555619029
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs) rs2067692232
NM_001042492.3(NF1):c.4725-15_4725-3del rs2151469964
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter) rs2067764827
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs) rs1555619395
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu) rs2151470179
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro) rs2151470213
NM_001042492.3(NF1):c.479+1G>T rs1555606137
NM_001042492.3(NF1):c.479+1_479+1356del
NM_001042492.3(NF1):c.479+5G>C rs1567818033
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.480-5_482del
NM_001042492.3(NF1):c.480-8_480-2delinsTTTTAT
NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter) rs1555619416
NM_001042492.3(NF1):c.4829C>A (p.Ala1610Glu)
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4836-2A>G
NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser) rs1555533268
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro) rs2151537585
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) rs1567611231
NM_001042492.3(NF1):c.4884dup (p.Leu1629fs)
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer) rs2069326575
NM_001042492.3(NF1):c.4910del (p.Lys1637fs)
NM_001042492.3(NF1):c.4915T>G (p.Tyr1639Asp) rs2151537742
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn) rs1131691123
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr) rs1131691123
NM_001042492.3(NF1):c.4931A>T (p.Asp1644Val)
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.5032T>G (p.Tyr1678Asp)
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser) rs1555533347
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys) rs1555533347
NM_001042492.3(NF1):c.5035_5037del (p.Ile1679del) rs2151538219
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5059_5060del (p.Arg1687fs)
NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs) rs1555533359
NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs) rs1555533363
NM_001042492.3(NF1):c.5079del (p.His1693fs) rs1597829969
NM_001042492.3(NF1):c.5118del (p.Val1707fs) rs1597830046
NM_001042492.3(NF1):c.5129del (p.Asp1710fs) rs2069334590
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs) rs2069337884
NM_001042492.3(NF1):c.5268+2T>G rs1555533416
NM_001042492.3(NF1):c.5268+5G>C rs864622551
NM_001042492.3(NF1):c.5268+5G>T
NM_001042492.3(NF1):c.5269-14C>G rs753463683
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5269-38A>G rs2151540615
NM_001042492.3(NF1):c.5269-8C>G rs1597831805
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp) rs1555533550
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.530T>A (p.Ile177Lys)
NM_001042492.3(NF1):c.530T>G (p.Ile177Arg) rs2143707493
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5329del (p.Val1777fs) rs2069377259
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) rs1555533569
NM_001042492.3(NF1):c.5374del (p.Cys1792fs) rs2069378463
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter) rs1597832002
NM_001042492.3(NF1):c.5387del (p.Glu1796fs) rs2069379168
NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro) rs2151541217
NM_001042492.3(NF1):c.5410delinsTT (p.Ala1804fs)
NM_001042492.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp) rs1135402871
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs) rs1555533641
NM_001042492.3(NF1):c.5561T>C (p.Leu1854Pro) rs878853903
NM_001042492.3(NF1):c.5564T>G (p.Leu1855Arg) rs2069385520
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5571del (p.Ile1857fs) rs1135402874
NM_001042492.3(NF1):c.557A>T (p.Asp186Val) rs1567820771
NM_001042492.3(NF1):c.5583T>G (p.Asn1861Lys) rs2151541871
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs) rs2069386536
NM_001042492.3(NF1):c.5609+5G>C rs1597832498
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5609_5609+1delinsAA rs2069386760
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser) rs1555533843
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5629C>A (p.Leu1877Met)
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5662del (p.Ile1888fs) rs2069449497
NM_001042492.3(NF1):c.5663dup (p.Glu1889fs) rs1555533856
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg) rs1597834706
NM_001042492.3(NF1):c.567del (p.Lys189fs) rs2143708010
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser) rs864622647
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs) rs2069452094
NM_001042492.3(NF1):c.573del (p.Lys191fs) rs2065904589
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5767A>T (p.Thr1923Ser) rs2151544901
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.5780del (p.Leu1927fs) rs1135402880
NM_001042492.3(NF1):c.5786_5787del (p.Glu1929fs) rs1555533882
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg) rs2069454402
NM_001042492.3(NF1):c.5792_5812+7del
NM_001042492.3(NF1):c.579_581del (p.Leu194del) rs2143708173
NM_001042492.3(NF1):c.5812+1G>T rs876658854
NM_001042492.3(NF1):c.5812+1del rs2151545014
NM_001042492.3(NF1):c.5812+2_5812+3insTA rs2069454921
NM_001042492.3(NF1):c.5812+2dup rs1597834973
NM_001042492.3(NF1):c.5812+4A>C rs1597834988
NM_001042492.3(NF1):c.5813-177A>C
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met) rs1422333640
NM_001042492.3(NF1):c.5847del (p.Met1949fs) rs1597840055
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs) rs2069602426
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5857C>G (p.Leu1953Val)
NM_001042492.3(NF1):c.586+2T>C rs1135402791
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg) rs1597658021
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg) rs2069606635
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6007-1G>A rs1555534596
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala) rs2069668717
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.6053G>T (p.Ser2018Ile)
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro) rs1567616704
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6147+1G>C rs1060500296
NM_001042492.3(NF1):c.6147+2T>C rs1555534621
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6148-1G>C rs1555534661
NM_001042492.3(NF1):c.6148-2A>G rs2069681259
NM_001042492.3(NF1):c.6221del (p.Met2074fs) rs2069683635
NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs) rs1555534680
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6296dup (p.His2099fs)
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs) rs1555534712
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro) rs1555534726
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter) rs2151554939
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg) rs1597843129
NM_001042492.3(NF1):c.6398T>G (p.Leu2133Arg) rs2069690617
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6428-1_6428del
NM_001042492.3(NF1):c.6428-1del
NM_001042492.3(NF1):c.6428-2A>C rs1060500312
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.6507_6921+170del
NM_001042492.3(NF1):c.655-2A>C rs1555608734
NM_001042492.3(NF1):c.6600del (p.Ser2201fs) rs1135402892
NM_001042492.3(NF1):c.6617C>G (p.Thr2206Arg)
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6645del (p.Cys2216fs) rs1555534913
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6671del (p.Lys2224fs) rs1555534919
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6685T>G (p.Trp2229Gly) rs1060500342
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-1G>A rs1060500356
NM_001042492.3(NF1):c.6705-1del
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer) rs1555534952
NM_001042492.3(NF1):c.6810del (p.Ser2272fs) rs1135402893
NM_001042492.3(NF1):c.6818A>C (p.Lys2273Thr)
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=) rs1060500373
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6820-3A>G
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs) rs2069742524
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu) rs2069743547
NM_001042492.3(NF1):c.6855dup (p.Asn2286fs) rs1555535041
NM_001042492.3(NF1):c.6880_6906del (p.Thr2294_Gln2302del) rs2151559288
NM_001042492.3(NF1):c.68del (p.Ile23fs) rs1057518884
NM_001042492.3(NF1):c.6905_6921+8del
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.6921+2T>A rs1555535053
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001042492.3(NF1):c.6921+4A>G rs752841251
NM_001042492.3(NF1):c.6921G>A (p.Lys2307=) rs1057523533
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6939del (p.Ala2314fs) rs2069790028
NM_001042492.3(NF1):c.6944T>G (p.Leu2315Arg) rs2151561538
NM_001042492.3(NF1):c.6949T>C (p.Trp2317Arg)
NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs) rs1555535163
NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs) rs1555535171
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs) rs2069792273
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser) rs1597848100
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.7001G>A (p.Gly2334Asp) rs2151561783
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_001042492.3(NF1):c.7013T>G (p.Leu2338Arg) rs2151561836
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg) rs2151561874
NM_001042492.3(NF1):c.7062+2T>C rs1135402898
NM_001042492.3(NF1):c.7062+2del rs2069795581
NM_001042492.3(NF1):c.7063-10_7066del
NM_001042492.3(NF1):c.7063-7_7063-2del
NM_001042492.3(NF1):c.7115del (p.Lys2372fs) rs2151565074
NM_001042492.3(NF1):c.7151_7152insG (p.Ser2384_Asn2385insTer)
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7156T>A (p.Phe2386Ile)
NM_001042492.3(NF1):c.7169_7170insAACC (p.Val2391fs) rs2151565268
NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla) rs1555535448
NM_001042492.3(NF1):c.7172T>A (p.Val2391Asp) rs2069869918
NM_001042492.3(NF1):c.7175del (p.Gly2392fs) rs2069870034
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg) rs1135402899
NM_001042492.3(NF1):c.7189+2_7189+6del
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7226C>G (p.Thr2409Arg)
NM_001042492.3(NF1):c.723_730+4del
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer) rs2070076932
NM_001042492.3(NF1):c.730+1G>T rs1060500274
NM_001042492.3(NF1):c.730+2T>C
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.7321+1G>T rs1135402903
NM_001042492.3(NF1):c.7321+2T>C rs2070079311
NM_001042492.3(NF1):c.7322-1G>A rs2070102904
NM_001042492.3(NF1):c.7322-1G>C rs2070102904
NM_001042492.3(NF1):c.7322-2A>T
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu) rs2066155612
NM_001042492.3(NF1):c.7456_7457+7del rs2070109067
NM_001042492.3(NF1):c.7457+1G>A rs2151574698
NM_001042492.3(NF1):c.7457+1G>T rs2151574698
NM_001042492.3(NF1):c.7457+2T>G rs2151574701
NM_001042492.3(NF1):c.7458-17T>G rs766585105
NM_001042492.3(NF1):c.7458-7_7459delinsT rs1555536334
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter) rs1555536359
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter) rs2070170274
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del) rs1060500323
NM_001042492.3(NF1):c.7581del (p.Gln2528fs) rs878853917
NM_001042492.3(NF1):c.7615+1del rs1355691590
NM_001042492.3(NF1):c.7616-1G>A
NM_001042492.3(NF1):c.764del (p.Gly255fs)
NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter)
NM_001042492.3(NF1):c.7753del (p.Ser2585fs) rs1555536685
NM_001042492.3(NF1):c.7787_7793del (p.Val2596fs) rs2151582306
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs) rs1131691129
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter) rs1555536713
NM_001042492.3(NF1):c.787A>G (p.Lys263Glu) rs1597659883
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter) rs1060500333
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs) rs2070298589
NM_001042492.3(NF1):c.7968_7970+2del rs2070299730
NM_001042492.3(NF1):c.7970+2dup rs1597867039
NM_001042492.3(NF1):c.7970+3A>T
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.7970+5G>A rs1567627286
NM_001042492.3(NF1):c.7970+5G>C rs1567627286
NM_001042492.3(NF1):c.7970+5G>T rs1567627286
NM_001042492.3(NF1):c.7970+6T>C rs1555536775
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr) rs1555536868
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
NM_001042492.3(NF1):c.8142del (p.Phe2714fs) rs2070340004
NM_001042492.3(NF1):c.8159del (p.Lys2720fs) rs1555537029
NM_001042492.3(NF1):c.8160+1G>A rs1555537032
NM_001042492.3(NF1):c.817del (p.Leu273fs) rs1555608972
NM_001042492.3(NF1):c.818T>G (p.Leu273Arg)
NM_001042492.3(NF1):c.819_821del (p.Leu274del) rs2143786045
NM_001042492.3(NF1):c.8210C>A (p.Ala2737Asp) rs1264511763
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg) rs2066157974
NM_001042492.3(NF1):c.853del (p.Ser285fs)
NM_001042492.3(NF1):c.862del (p.Val288fs) rs1135402797
NM_001042492.3(NF1):c.888+1G>C rs1135402799
NM_001042492.3(NF1):c.888+2_888+5del
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.897del (p.Leu300fs)
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp) rs2066507556
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg) rs199474735
NM_001042492.3(NF1):c.971G>A (p.Cys324Tyr) rs778890596
NM_001042492.3(NF1):c.988del (p.Ala330fs) rs1555610896
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.3:c.7317AGC[1]

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.