ClinVar Miner

List of variants reported as uncertain significance for Neurofibromatosis, type 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 461
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HGVS dbSNP
NC_000022.10:g.(?_29999982)_(30000107_?)dup
NC_000022.10:g.(?_30050636)_(30050946_?)del
NC_000022.10:g.(?_30090731)_(30090801_?)dup
NC_000022.11:g.(?_29603989)_(29604122_?)dup
NC_000022.11:g.(?_29603989)_(29694812_?)dup
NC_000022.11:g.(?_29603999)_(29604122_?)dup
NC_000022.11:g.(?_29603999)_(29694802_?)dup
NC_000022.11:g.(?_29636741)_(29694812_?)dup
NC_000022.11:g.(?_29654651)_(29654731_?)del
NM_000268.3(NF2):c.1739_1747delTCACCTTGC rs1060503674
NM_000268.4(NF2):c.*1007C>A rs886057350
NM_000268.4(NF2):c.*106C>T rs886057338
NM_000268.4(NF2):c.*109G>T rs886057339
NM_000268.4(NF2):c.*1111G>T rs886057351
NM_000268.4(NF2):c.*1159G>A
NM_000268.4(NF2):c.*1260dup rs886057352
NM_000268.4(NF2):c.*1264C>T rs879093980
NM_000268.4(NF2):c.*1264del rs886057353
NM_000268.4(NF2):c.*1287T>C
NM_000268.4(NF2):c.*1287dup rs886057354
NM_000268.4(NF2):c.*1294T>G rs886057355
NM_000268.4(NF2):c.*1297A>G rs886057356
NM_000268.4(NF2):c.*1326T>C rs886057358
NM_000268.4(NF2):c.*136G>A rs886057340
NM_000268.4(NF2):c.*1418T>C
NM_000268.4(NF2):c.*1439T>C rs886057359
NM_000268.4(NF2):c.*1522C>A rs886057360
NM_000268.4(NF2):c.*1538C>G
NM_000268.4(NF2):c.*1559C>A rs886057361
NM_000268.4(NF2):c.*158T>C rs886057341
NM_000268.4(NF2):c.*1624G>A
NM_000268.4(NF2):c.*1652G>T rs751068883
NM_000268.4(NF2):c.*1668G>T
NM_000268.4(NF2):c.*1672C>T rs757272448
NM_000268.4(NF2):c.*1736T>A
NM_000268.4(NF2):c.*1737C>A rs886057362
NM_000268.4(NF2):c.*1782T>C rs886057363
NM_000268.4(NF2):c.*1823C>T rs190590507
NM_000268.4(NF2):c.*1848C>T rs886057364
NM_000268.4(NF2):c.*189A>C
NM_000268.4(NF2):c.*199C>A rs886057342
NM_000268.4(NF2):c.*2003T>G rs886057367
NM_000268.4(NF2):c.*2007del rs886057365
NM_000268.4(NF2):c.*2007dup rs886057365
NM_000268.4(NF2):c.*2010G>T rs886057368
NM_000268.4(NF2):c.*2020C>T rs886057370
NM_000268.4(NF2):c.*2021dup rs886057369
NM_000268.4(NF2):c.*2031_*2032dup rs11442202
NM_000268.4(NF2):c.*2039dup rs886057371
NM_000268.4(NF2):c.*204C>T
NM_000268.4(NF2):c.*2068G>T rs886057372
NM_000268.4(NF2):c.*2153T>C
NM_000268.4(NF2):c.*2205G>A rs886057373
NM_000268.4(NF2):c.*2206G>A rs886057374
NM_000268.4(NF2):c.*2215A>G
NM_000268.4(NF2):c.*2245C>G
NM_000268.4(NF2):c.*2266C>T rs563567208
NM_000268.4(NF2):c.*2310C>T rs777037756
NM_000268.4(NF2):c.*2332C>T
NM_000268.4(NF2):c.*2365C>T rs765602116
NM_000268.4(NF2):c.*2373C>A rs886057375
NM_000268.4(NF2):c.*2396G>T rs886057376
NM_000268.4(NF2):c.*2445G>A
NM_000268.4(NF2):c.*2499C>A rs569992376
NM_000268.4(NF2):c.*256T>C
NM_000268.4(NF2):c.*2612T>C
NM_000268.4(NF2):c.*266G>T rs886057343
NM_000268.4(NF2):c.*2670C>A rs763727745
NM_000268.4(NF2):c.*2753A>G rs199805259
NM_000268.4(NF2):c.*2803C>A rs886057377
NM_000268.4(NF2):c.*284C>T
NM_000268.4(NF2):c.*2911C>T
NM_000268.4(NF2):c.*293C>A rs886057344
NM_000268.4(NF2):c.*2999G>C rs886057378
NM_000268.4(NF2):c.*3018C>T rs886057379
NM_000268.4(NF2):c.*3055C>T rs886057380
NM_000268.4(NF2):c.*3083C>T
NM_000268.4(NF2):c.*3107T>G rs886057381
NM_000268.4(NF2):c.*3133A>G
NM_000268.4(NF2):c.*3140G>T rs886057382
NM_000268.4(NF2):c.*3189G>T rs886057383
NM_000268.4(NF2):c.*3266C>A rs886057384
NM_000268.4(NF2):c.*3298G>T rs886057385
NM_000268.4(NF2):c.*3313A>T
NM_000268.4(NF2):c.*3319del rs372162228
NM_000268.4(NF2):c.*335C>T rs886057345
NM_000268.4(NF2):c.*3443G>T rs886057387
NM_000268.4(NF2):c.*3480T>G rs886057388
NM_000268.4(NF2):c.*359G>A rs572307337
NM_000268.4(NF2):c.*3613_*3618del rs755969033
NM_000268.4(NF2):c.*3644C>T
NM_000268.4(NF2):c.*3645G>A
NM_000268.4(NF2):c.*3646C>T rs886057390
NM_000268.4(NF2):c.*3670C>T rs886057391
NM_000268.4(NF2):c.*3671G>A
NM_000268.4(NF2):c.*3715C>A rs886057392
NM_000268.4(NF2):c.*3720C>A
NM_000268.4(NF2):c.*3765G>T
NM_000268.4(NF2):c.*3783T>C rs886057393
NM_000268.4(NF2):c.*388C>T rs777219109
NM_000268.4(NF2):c.*397C>T
NM_000268.4(NF2):c.*420C>T
NM_000268.4(NF2):c.*527G>T
NM_000268.4(NF2):c.*532G>T rs886057346
NM_000268.4(NF2):c.*561C>G rs776610927
NM_000268.4(NF2):c.*573C>T rs543669369
NM_000268.4(NF2):c.*587G>T rs886057347
NM_000268.4(NF2):c.*695C>T
NM_000268.4(NF2):c.*758G>A
NM_000268.4(NF2):c.*768_*769dup rs886057348
NM_000268.4(NF2):c.*801A>G
NM_000268.4(NF2):c.*860C>T
NM_000268.4(NF2):c.*913C>T
NM_000268.4(NF2):c.*937C>T
NM_000268.4(NF2):c.*942C>T
NM_000268.4(NF2):c.*944G>A
NM_000268.4(NF2):c.*957C>T
NM_000268.4(NF2):c.*977C>T
NM_000268.4(NF2):c.*987C>A rs886057349
NM_000268.4(NF2):c.-142del rs1569259403
NM_000268.4(NF2):c.-163C>T
NM_000268.4(NF2):c.-268G>T rs886057335
NM_000268.4(NF2):c.-284C>A rs886057334
NM_000268.4(NF2):c.-320C>T rs886057333
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1003G>A (p.Glu335Lys)
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp)
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554
NM_000268.4(NF2):c.100G>C (p.Glu34Gln)
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr) rs780430071
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser) rs780430071
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly)
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu) rs754087071
NM_000268.4(NF2):c.1037G>A (p.Arg346Lys) rs1556000154
NM_000268.4(NF2):c.1038G>T (p.Arg346Ser)
NM_000268.4(NF2):c.1051C>T (p.Arg351Cys) rs747756728
NM_000268.4(NF2):c.1052G>A (p.Arg351His) rs771675702
NM_000268.4(NF2):c.1053C>T (p.Arg351=) rs1179494821
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
NM_000268.4(NF2):c.1066T>A (p.Leu356Met)
NM_000268.4(NF2):c.1088T>A (p.Met363Lys)
NM_000268.4(NF2):c.1088T>G (p.Met363Arg)
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.4(NF2):c.1105A>G (p.Met369Val)
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.111C>T (p.Cys37=) rs1302428933
NM_000268.4(NF2):c.1124T>C (p.Met375Thr) rs1556000763
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp)
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1127G>T (p.Arg376Leu)
NM_000268.4(NF2):c.1129T>G (p.Ser377Ala) rs1569305865
NM_000268.4(NF2):c.114+4A>G
NM_000268.4(NF2):c.114+4A>T
NM_000268.4(NF2):c.114+6C>T
NM_000268.4(NF2):c.115-8101del
NM_000268.4(NF2):c.115A>G (p.Met39Val)
NM_000268.4(NF2):c.1165C>G (p.Gln389Glu)
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
NM_000268.4(NF2):c.1207G>A (p.Ala403Thr)
NM_000268.4(NF2):c.1207G>T (p.Ala403Ser)
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) rs773296925
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090
NM_000268.4(NF2):c.1234A>C (p.Ile412Leu)
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111
NM_000268.4(NF2):c.1253G>A (p.Arg418His) rs548217466
NM_000268.4(NF2):c.1256C>T (p.Thr419Met)
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del)
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)
NM_000268.4(NF2):c.1270C>A (p.Arg424Ser) rs763826793
NM_000268.4(NF2):c.1270C>G (p.Arg424Gly) rs763826793
NM_000268.4(NF2):c.1270C>T (p.Arg424Cys) rs763826793
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657
NM_000268.4(NF2):c.1271G>T (p.Arg424Leu) rs751182657
NM_000268.4(NF2):c.1280A>C (p.Glu427Ala)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr)
NM_000268.4(NF2):c.1298C>T (p.Ala433Val)
NM_000268.4(NF2):c.12_13inv (p.Ile5Val)
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys) rs992662337
NM_000268.4(NF2):c.1301A>G (p.Glu434Gly) rs1601648832
NM_000268.4(NF2):c.1303G>T (p.Val435Leu) rs772334382
NM_000268.4(NF2):c.1336A>G (p.Arg446Gly)
NM_000268.4(NF2):c.133G>A (p.Asp45Asn)
NM_000268.4(NF2):c.1340G>T (p.Arg447Met)
NM_000268.4(NF2):c.1341G>A (p.Arg447=)
NM_000268.4(NF2):c.1342G>A (p.Ala448Thr)
NM_000268.4(NF2):c.1343C>G (p.Ala448Gly)
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.4(NF2):c.1364A>G (p.Lys455Arg) rs1318882444
NM_000268.4(NF2):c.1366C>G (p.Gln456Glu)
NM_000268.4(NF2):c.1370A>T (p.Asp457Val)
NM_000268.4(NF2):c.1373T>G (p.Leu458Arg)
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys)
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1397G>T (p.Arg466Leu)
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875
NM_000268.4(NF2):c.142G>A (p.Asp48Asn)
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1442A>G (p.Tyr481Cys)
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217
NM_000268.4(NF2):c.1446+5G>T
NM_000268.4(NF2):c.1446+6C>G
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373
NM_000268.4(NF2):c.1447-9C>G
NM_000268.4(NF2):c.1447C>G (p.Pro483Ala)
NM_000268.4(NF2):c.1450A>G (p.Met484Val) rs1182896077
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu) rs147506929
NM_000268.4(NF2):c.1460T>C (p.Ile487Thr) rs1601658904
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser) rs776076922
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922
NM_000268.4(NF2):c.1480G>C (p.Asp494His)
NM_000268.4(NF2):c.1484T>G (p.Ile495Arg) rs1556002511
NM_000268.4(NF2):c.1488A>C (p.Pro496=)
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157
NM_000268.4(NF2):c.1493_1494delinsCT (p.Phe498Ser)
NM_000268.4(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136
NM_000268.4(NF2):c.150G>A (p.Val50=) rs1601578932
NM_000268.4(NF2):c.1511G>A (p.Ser504Asn) rs756366940
NM_000268.4(NF2):c.1511G>T (p.Ser504Ile)
NM_000268.4(NF2):c.1517C>G (p.Ser506Cys) rs970051210
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764
NM_000268.4(NF2):c.1522G>T (p.Asp508Tyr)
NM_000268.4(NF2):c.1529A>G (p.Lys510Arg) rs886057337
NM_000268.4(NF2):c.1540A>C (p.Met514Leu)
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.1544A>G (p.Lys515Arg)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.154C>T (p.Arg52Trp)
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu)
NM_000268.4(NF2):c.1575-6C>G
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn)
NM_000268.4(NF2):c.1575A>G (p.Lys525=) rs1060503673
NM_000268.4(NF2):c.157A>G (p.Thr53Ala) rs1601578990
NM_000268.4(NF2):c.1585A>G (p.Met529Val)
NM_000268.4(NF2):c.1586T>C (p.Met529Thr) rs780818183
NM_000268.4(NF2):c.15C>G (p.Ile5Met) rs998779035
NM_000268.4(NF2):c.1600C>T (p.His534Tyr)
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164
NM_000268.4(NF2):c.162G>A (p.Leu54=)
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly)
NM_000268.4(NF2):c.1660A>T (p.Arg554Trp)
NM_000268.4(NF2):c.1660_1661del (p.Arg554fs) rs1601666191
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747
NM_000268.4(NF2):c.1685A>G (p.His562Arg)
NM_000268.4(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser) rs768303416
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr) rs1601666359
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514
NM_000268.4(NF2):c.1702A>G (p.Arg568Gly) rs1318481716
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) rs755032702
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn)
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)
NM_000268.4(NF2):c.1720C>T (p.His574Tyr)
NM_000268.4(NF2):c.1721A>C (p.His574Pro)
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser) rs1601666549
NM_000268.4(NF2):c.1732A>G (p.Lys578Glu)
NM_000268.4(NF2):c.1733A>G (p.Lys578Arg)
NM_000268.4(NF2):c.1735A>C (p.Lys579Gln)
NM_000268.4(NF2):c.1737+1420C>T
NM_000268.4(NF2):c.1737+1432G>A rs746764835
NM_000268.4(NF2):c.1737+2098A>G rs75296199
NM_000268.4(NF2):c.1737+5C>T
NM_000268.4(NF2):c.1737G>A (p.Lys579=) rs1569312133
NM_000268.4(NF2):c.1745T>C (p.Leu582Ser)
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser)
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
NM_000268.4(NF2):c.1763G>A (p.Arg588Gln)
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600
NM_000268.4(NF2):c.1769C>T (p.Ala590Val)
NM_000268.4(NF2):c.1770CTT[1] (p.Phe592del)
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.1786T>C (p.Ter596Gln) rs1569319775
NM_000268.4(NF2):c.17C>A (p.Ala6Asp)
NM_000268.4(NF2):c.182T>C (p.Phe61Ser)
NM_000268.4(NF2):c.191T>C (p.Leu64Pro)
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240
NM_000268.4(NF2):c.1A>G (p.Met1Val)
NM_000268.4(NF2):c.208G>C (p.Asp70His)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.222G>T (p.Trp74Cys)
NM_000268.4(NF2):c.223C>A (p.Leu75Ile)
NM_000268.4(NF2):c.22C>T (p.Arg8Cys)
NM_000268.4(NF2):c.240+6G>A
NM_000268.4(NF2):c.240+6G>C
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863
NM_000268.4(NF2):c.245T>C (p.Leu82Pro)
NM_000268.4(NF2):c.251A>G (p.His84Arg)
NM_000268.4(NF2):c.253G>C (p.Asp85His)
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
NM_000268.4(NF2):c.271C>A (p.Pro91Thr) rs1555987645
NM_000268.4(NF2):c.272C>A (p.Pro91Gln) rs1569281659
NM_000268.4(NF2):c.272C>G (p.Pro91Arg)
NM_000268.4(NF2):c.274G>A (p.Val92Ile)
NM_000268.4(NF2):c.293C>A (p.Ala98Asp) rs1060503668
NM_000268.4(NF2):c.296A>G (p.Lys99Arg) rs181794923
NM_000268.4(NF2):c.300T>A (p.Phe100Leu) rs1555987677
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe) rs1240469044
NM_000268.4(NF2):c.305C>G (p.Pro102Arg) rs1601583679
NM_000268.4(NF2):c.311A>C (p.Asn104Thr)
NM_000268.4(NF2):c.319G>A (p.Glu107Lys)
NM_000268.4(NF2):c.326T>C (p.Leu109Pro) rs1601583740
NM_000268.4(NF2):c.328G>C (p.Val110Leu) rs1601583759
NM_000268.4(NF2):c.32T>G (p.Phe11Cys)
NM_000268.4(NF2):c.332A>C (p.Gln111Pro)
NM_000268.4(NF2):c.337A>C (p.Ile113Leu)
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.343C>G (p.Gln115Glu) rs1350618734
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.352T>G (p.Phe118Val)
NM_000268.4(NF2):c.364-3C>T
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.375G>C (p.Gln125His)
NM_000268.4(NF2):c.376A>G (p.Ile126Val)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.3_14del (p.Met1_Ala4del) rs1351718417
NM_000268.4(NF2):c.400C>T (p.Pro134Ser) rs1555988776
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024
NM_000268.4(NF2):c.440A>C (p.Gln147Pro)
NM_000268.4(NF2):c.447+6C>T
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963
NM_000268.4(NF2):c.473A>G (p.His158Arg)
NM_000268.4(NF2):c.478C>T (p.Arg160Trp) rs150667239
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.495A>G (p.Gln165=) rs1601611991
NM_000268.4(NF2):c.497A>T (p.Glu166Val) rs779353677
NM_000268.4(NF2):c.499G>C (p.Glu167Gln)
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000268.4(NF2):c.504G>C (p.Leu168Phe)
NM_000268.4(NF2):c.506T>C (p.Leu169Pro)
NM_000268.4(NF2):c.50A>G (p.Lys17Arg)
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731
NM_000268.4(NF2):c.516G>A (p.Arg172=)
NM_000268.4(NF2):c.521T>C (p.Ile174Thr) rs1346860299
NM_000268.4(NF2):c.524A>G (p.Asn175Ser)
NM_000268.4(NF2):c.542C>T (p.Pro181Leu)
NM_000268.4(NF2):c.545A>G (p.Glu182Gly)
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.566C>T (p.Thr189Ile)
NM_000268.4(NF2):c.587G>A (p.Arg196Gln) rs749176138
NM_000268.4(NF2):c.58A>C (p.Lys20Gln)
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371
NM_000268.4(NF2):c.598A>G (p.Arg200Gly)
NM_000268.4(NF2):c.599+5G>A rs1601613749
NM_000268.4(NF2):c.599+6G>T
NM_000268.4(NF2):c.602A>G (p.Asp201Gly)
NM_000268.4(NF2):c.602A>T (p.Asp201Val) rs1601618525
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000268.4(NF2):c.614T>C (p.Met205Thr) rs747871414
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.647T>C (p.Met216Thr)
NM_000268.4(NF2):c.652G>A (p.Gly218Ser) rs776818377
NM_000268.4(NF2):c.652G>T (p.Gly218Cys)
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys) rs746025177
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.673C>T (p.Arg225Trp)
NM_000268.4(NF2):c.675+6T>C
NM_000268.4(NF2):c.675G>T (p.Arg225=) rs1569295986
NM_000268.4(NF2):c.676A>C (p.Asn226His) rs886057336
NM_000268.4(NF2):c.67A>C (p.Thr23Pro)
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260
NM_000268.4(NF2):c.685G>T (p.Gly229Cys) rs1028670573
NM_000268.4(NF2):c.69C>G (p.Thr23=)
NM_000268.4(NF2):c.709G>C (p.Asp237His)
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572
NM_000268.4(NF2):c.726C>G (p.His242Gln) rs1480040681
NM_000268.4(NF2):c.731A>G (p.Tyr244Cys)
NM_000268.4(NF2):c.733G>A (p.Asp245Asn)
NM_000268.4(NF2):c.736C>T (p.Pro246Ser) rs1569297802
NM_000268.4(NF2):c.73A>G (p.Arg25Gly)
NM_000268.4(NF2):c.73A>T (p.Arg25Trp)
NM_000268.4(NF2):c.743A>G (p.Asn248Ser)
NM_000268.4(NF2):c.749T>A (p.Leu250Gln) rs1432132718
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.758A>G (p.Lys253Arg) rs773573049
NM_000268.4(NF2):c.769C>T (p.Pro257Ser)
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935
NM_000268.4(NF2):c.772T>G (p.Trp258Gly) rs1601624186
NM_000268.4(NF2):c.785G>A (p.Arg262Gln)
NM_000268.4(NF2):c.789C>A (p.Asn263Lys)
NM_000268.4(NF2):c.78C>G (p.Ile26Met)
NM_000268.4(NF2):c.810+6A>G
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.820A>G (p.Lys274Glu)
NM_000268.4(NF2):c.831T>G (p.Asp277Glu) rs762883753
NM_000268.4(NF2):c.845T>C (p.Val282Ala) rs1601630493
NM_000268.4(NF2):c.851A>G (p.Lys284Arg) rs764034925
NM_000268.4(NF2):c.857A>G (p.Asn286Ser)
NM_000268.4(NF2):c.85A>G (p.Met29Val)
NM_000268.4(NF2):c.872G>A (p.Arg291His) rs755200117
NM_000268.4(NF2):c.872G>T (p.Arg291Leu)
NM_000268.4(NF2):c.874G>A (p.Val292Ile)
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477
NM_000268.4(NF2):c.886-3C>T
NM_000268.4(NF2):c.896T>C (p.Leu299Pro)
NM_000268.4(NF2):c.89A>G (p.Asp30Gly)
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.4(NF2):c.911A>G (p.His304Arg) rs1555998800
NM_000268.4(NF2):c.916C>G (p.Leu306Val)
NM_000268.4(NF2):c.922A>G (p.Met308Val)
NM_000268.4(NF2):c.932G>A (p.Arg311Lys) rs1169276398
NM_000268.4(NF2):c.93C>A (p.Ala31=)
NM_000268.4(NF2):c.940G>A (p.Asp314Asn)
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919
NM_000268.4(NF2):c.94G>A (p.Glu32Lys) rs373337083
NM_000268.4(NF2):c.952G>A (p.Val318Ile)
NM_000268.4(NF2):c.952G>T (p.Val318Phe)
NM_000268.4(NF2):c.970C>G (p.Gln324Glu)
NM_000268.4(NF2):c.974C>T (p.Ala325Val)
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028
NM_000268.4(NF2):c.992G>C (p.Arg331Thr)
NM_000268.4(NF2):c.999G>C (p.Gln333His)
NM_016418.5(NF2):c.-397C>T rs886057332
NM_016418.5(NF2):c.-402A>G rs886057331
NM_016418.5(NF2):c.10-4_*13delinsG rs1556008383
NM_016418.5(NF2):c.1123-7C>G rs559511611
NM_016418.5(NF2):c.114+6C>G rs1060503671
NM_016418.5(NF2):c.1340+6G>T rs914659916
NM_016418.5(NF2):c.1446+6C>A rs878853924
NM_016418.5(NF2):c.363+3A>T rs1060503669
NM_016418.5(NF2):c.599+3G>A rs768301915
NM_016418.5(NF2):c.600-13G>A rs374509697
NM_016418.5(NF2):c.676-10G>A rs1601623842
NM_016418.5(NF2):c.810+8_810+9del rs760095910
NM_016418.5(NF2):c.810_810+2dup rs1569297926
NM_016418.5(NF2):c.885+6T>C rs1601630628
Single allele

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