ClinVar Miner

Variants in gene NF1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
3298 1080 10 155 111 0 51 301

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 87 20 1 0
likely pathogenic 87 0 34 2 0
uncertain significance 20 34 8 105 22
likely benign 1 2 105 0 68
benign 0 0 22 68 2

All variants with conflicting interpretations #

Total variants: 301
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.1005T>C (p.Asn335=) rs777369021
NM_000267.3(NF1):c.1032A>G (p.Leu344=) rs199832006
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1137C>T (p.Cys379=) rs139648455
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.1186-4A>G rs769295150
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.1296G>A (p.Val432=) rs371599283
NM_000267.3(NF1):c.1308G>A (p.Ser436=) rs765425127
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1392+1del rs1060500347
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1528-1G>T rs876660595
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
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.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1721+5A>G rs876658961
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.1846-12A>T rs188510882
NM_000267.3(NF1):c.1900A>G (p.Ile634Val) rs745906742
NM_000267.3(NF1):c.1919C>T (p.Thr640Ile)
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.1998T>C (p.Ser666=) rs1567846823
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2002-4_2002-3del rs786203664
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2178G>C (p.Val726=) rs369590240
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667
NM_000267.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896
NM_000267.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2252-34T>C rs200937398
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.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2326-2A>G rs1555613975
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.2410-12T>C rs876657932
NM_000267.3(NF1):c.2410-1G>A rs1057518792
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2517C>T (p.Asn839=) rs876659543
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2541T>C (p.Leu847=) rs147433258
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2622G>A (p.Lys874=) rs77917884
NM_000267.3(NF1):c.2652G>A (p.Glu884=) rs757843283
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.288+1del rs1057519370
NM_000267.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_000267.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2990+7A>G rs1555614465
NM_000267.3(NF1):c.2991-4A>G rs754414489
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3114-4A>G rs201550230
NM_000267.3(NF1):c.3114-4A>T rs201550230
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197+9dup rs755212937
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.321G>A (p.Thr107=) rs786201731
NM_000267.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3446T>C (p.Met1149Thr)
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3484A>G (p.Met1162Val) rs773968270
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_000267.3(NF1):c.354C>T (p.Cys118=) rs768777585
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3621A>G (p.Arg1207=) rs141390152
NM_000267.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.3732T>A (p.Val1244=) rs756653022
NM_000267.3(NF1):c.3765A>G (p.Gln1255=) rs766896025
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3871-2A>G rs1131691077
NM_000267.3(NF1):c.3871-4G>C rs558421445
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.3916C>A (p.Arg1306=) rs376576925
NM_000267.3(NF1):c.3974+9T>A rs368586596
NM_000267.3(NF1):c.3975-4G>A rs760207624
NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_000267.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4149A>G (p.Ala1383=) rs376825167
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4171A>G (p.Arg1391Gly) rs1555618515
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
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.4189A>G (p.Ile1397Val) rs369345045
NM_000267.3(NF1):c.4206A>G (p.Glu1402=) rs17886566
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.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
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.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.4514+12C>T rs17878332
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4515-5T>C rs772759508
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4661+11A>G rs368649260
NM_000267.3(NF1):c.4661+1G>A rs1555619056
NM_000267.3(NF1):c.4662-3T>C rs892441625
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000267.3(NF1):c.4772+36T>C rs16972128
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4773G>A (p.Arg1591=) rs1555533268
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.480G>A (p.Arg160=) rs1555607071
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
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.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) rs878853900
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5295G>A (p.Ser1765=) rs373313111
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.5460A>G (p.Gln1820=) rs151046636
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.5749+8A>G rs372075322
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5770del (p.Cys1924fs) rs1555534379
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.5820G>A (p.Lys1940=) rs144808600
NM_000267.3(NF1):c.5843A>T (p.Gln1948Leu) rs143502927
NM_000267.3(NF1):c.5898G>A (p.Gln1966=) rs757536610
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>C rs1555534596
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6084+8C>G rs182709912
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.61-2A>T rs1131691100
NM_000267.3(NF1):c.61-4del rs551568608
NM_000267.3(NF1):c.61-7486G>T
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_000267.3(NF1):c.623C>T (p.Ala208Val) rs758624540
NM_000267.3(NF1):c.6297T>C (p.Ala2099=) rs371578074
NM_000267.3(NF1):c.6316A>G (p.Ile2106Val) rs200022550
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.647T>G (p.Leu216Arg)
NM_000267.3(NF1):c.6492G>A (p.Arg2164=) rs786203189
NM_000267.3(NF1):c.655-29T>C rs182325576
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.655-3T>C rs746584147
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6580-4T>C rs1555534908
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.6641+3A>G rs375560135
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6719A>G (p.His2240Arg) rs201336602
NM_000267.3(NF1):c.6753C>T (p.Ser2251=) rs864622360
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.6858+10G>A rs767166725
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6859-14_6859-13del rs146785663
NM_000267.3(NF1):c.6859-16A>G rs202158964
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.6915T>C (p.Asp2305=) rs1135402896
NM_000267.3(NF1):c.6957A>G (p.Gln2319=) rs777399429
NM_000267.3(NF1):c.6963G>A (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7127-33TTGT[3] rs149197458
NM_000267.3(NF1):c.7127-5del rs769290414
NM_000267.3(NF1):c.7183C>T (p.Leu2395=) rs786201310
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.730+16dup rs373999174
NM_000267.3(NF1):c.730+2T>G rs200962248
NM_000267.3(NF1):c.7305A>G (p.Lys2435=) rs201287021
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7347T>C (p.Asn2449=) rs17881903
NM_000267.3(NF1):c.7394+21A>G rs17881641
NM_000267.3(NF1):c.7398A>G (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.7473C>T (p.Gly2491=) rs786203187
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7551T>C (p.Leu2517=) rs1555536374
NM_000267.3(NF1):c.7552+1G>T rs1555536380
NM_000267.3(NF1):c.7553-4A>G rs761675429
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7752G>A (p.Leu2584=) rs1555536703
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.7778A>G (p.Lys2593Arg) rs587781502
NM_000267.3(NF1):c.7807-13dup rs369360556
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000267.3(NF1):c.7908-8del rs564545012
NM_000267.3(NF1):c.7935C>T (p.Asn2645=) rs747307832
NM_000267.3(NF1):c.7978A>G (p.Ile2660Val) rs146315101
NM_000267.3(NF1):c.7998T>C (p.Ser2666=) rs786202936
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000267.3(NF1):c.8028A>G (p.Gln2676=) rs760433938
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.8261A>C (p.Asn2754Thr) rs772090874
NM_000267.3(NF1):c.8313A>C (p.Pro2771=) rs1028961967
NM_000267.3(NF1):c.8315-4C>T rs587782700
NM_000267.3(NF1):c.8332G>A (p.Val2778Ile) rs377393842
NM_000267.3(NF1):c.8416G>A (p.Ala2806Thr) rs199878086
NM_000267.3(NF1):c.8436T>C (p.Asn2812=) rs142636150
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531
NM_000267.3(NF1):c.884A>G (p.Asn295Ser) rs1555608994
NM_000267.3(NF1):c.905G>A (p.Ser302Asn) rs786202746
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000267.3(NF1):c.960T>A (p.Ala320=) rs376447070
NM_000267.3(NF1):c.978A>G (p.Lys326=) rs1555610891
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.2(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_001042492.2(NF1):c.4372_4374GAA[1] (p.Glu1459del) rs267606607
NM_001042492.2(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.2(NF1):c.7153_7158AACTTT[1] (p.2385_2386NF[1]) rs864622639
NM_001128147.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903

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.