ClinVar Miner

Variants with conflicting interpretations studied for Neurofibromatosis, type 1

Coded as:
Minimum review status of the submission for Neurofibromatosis, type 1: Y axis collection method of the submission for Neurofibromatosis, type 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
1763 906 5 122 85 0 62 257

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.

All conditions
Neurofibromatosis, type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 74 31 0 0
likely pathogenic 57 0 19 1 0
uncertain significance 27 30 5 75 13
likely benign 1 0 16 0 25
benign 0 0 0 4 0

Condition to condition summary #

Total conditions: 21
Download table as spreadsheet
Condition 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
Hereditary cancer-predisposing syndrome 0 738 0 49 63 0 24 132
not provided 0 229 5 63 34 0 17 108
Neurofibromatosis, type 1 2702 144 0 38 9 0 35 80
not specified 0 68 0 25 21 0 2 44
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 0 29 0 5 0 0 1 6
Neurofibromatosis-Noonan syndrome 0 82 0 3 3 0 0 6
Café-au-lait macules with pulmonary stenosis 0 80 0 2 3 0 0 5
Midaortic syndrome 0 0 0 2 0 0 3 5
Neurofibromatosis, familial spinal 0 81 0 2 3 0 0 5
Neurofibromatosis, type 1; Tibial pseudoarthrosis 0 15 0 1 0 0 2 3
Cafe-au-lait spot 0 0 0 2 0 0 0 2
Ganglioglioma 0 0 0 1 0 0 0 1
Juvenile myelomonocytic leukemia; Neurofibromas 0 0 0 1 0 0 0 1
Multiple cafe-au-lait spots; Abnormality of vision; Neurofibromas 0 0 0 0 0 0 1 1
Multiple cafe-au-lait spots; Axillary freckling; Focal T2 hyperintense basal ganglia lesion 0 0 0 1 0 0 0 1
Multiple cafe-au-lait spots; Axillary freckling; Large cafe-au-lait macules with irregular margins; Lisch nodules; Delayed fine motor development; Inguinal freckling 0 0 0 1 0 0 0 1
Multiple cafe-au-lait spots; Axillary freckling; Neurofibromas; Optic nerve glioma 0 0 0 0 0 0 1 1
Multiple cafe-au-lait spots; Cafe-au-lait spot; Axillary freckling; Neurofibromas; Inguinal freckling 0 0 0 1 0 0 0 1
Multiple cafe-au-lait spots; Thoracic scoliosis; Subcutaneous neurofibromas 0 0 0 1 0 0 0 1
Neurofibroma 0 1 0 0 0 0 1 1
Tumor susceptibility linked to germline BAP1 mutations 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 257
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.*4T>C rs201044568
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.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
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.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.1642-3C>G
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.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.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.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2002-1G>A rs1555613743
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.2163T>A (p.Cys721Ter) rs1555613816
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.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.2252-3T>G rs1057518842
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.2326-3T>G rs876658946
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.2410-16A>G rs1567848704
NM_000267.3(NF1):c.2410-18C>G rs533210843
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.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
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.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.2851-6_2851-3del
NM_000267.3(NF1):c.288+1del rs1057519370
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.2990G>A (p.Arg997Lys)
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3169G>A (p.Ala1057Thr)
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3243T>A (p.Ala1081=) rs1567850679
NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758
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.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.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732
NM_000267.3(NF1):c.3621A>G (p.Arg1207=) rs141390152
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.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.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
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.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+1G>A rs1279529138
NM_000267.3(NF1):c.4515-19A>G rs1555618994
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.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.480-5T>C rs1555607069
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.4851A>G (p.Pro1617=)
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.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.5206-14C>G rs753463683
NM_000267.3(NF1):c.5206-8C>G
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.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.567A>G (p.Lys189=) rs1567820796
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5770del (p.Cys1924fs) rs1555534379
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.5843A>T (p.Gln1948Leu) rs143502927
NM_000267.3(NF1):c.587-3C>G rs375188075
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5943+4T>C rs754909198
NM_000267.3(NF1):c.6084+2T>C rs1555534621
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.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_000267.3(NF1):c.6186C>G (p.Arg2062=) rs1567616975
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.655-2A>C rs1555608734
NM_000267.3(NF1):c.655-3T>C rs746584147
NM_000267.3(NF1):c.6567G>A (p.Leu2189=) rs886052801
NM_000267.3(NF1):c.6579+18A>G rs1555534893
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>A rs1131691079
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6753C>T (p.Ser2251=) rs864622360
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6858+5T>C rs370402788
NM_000267.3(NF1):c.6859-16A>G rs202158964
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.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.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7473C>T (p.Gly2491=) rs786203187
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.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.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.78A>T (p.Gly26=)
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.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.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.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_001042492.3(NF1):c.1261-19G>A
NM_001042492.3(NF1):c.2410-13A>G
NM_001128147.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293

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