ClinVar Miner

List of variants studied for Neurofibromatosis, type 2 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 634
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HGVS dbSNP
NC_000022.10:g.(?_29083885)_(30337586_?)del
NC_000022.10:g.(?_29999982)_(30000107_?)dup
NC_000022.10:g.(?_29999982)_(30090797_?)del
NC_000022.10:g.(?_29999988)_(30077600_?)del
NC_000022.10:g.(?_29999988)_(30090791_?)del
NC_000022.10:g.(?_30035073)_(30035207_?)del
NC_000022.10:g.(?_30050636)_(30050946_?)del
NC_000022.10:g.(?_30051485_30051628del
NC_000022.10:g.(?_30064316)_(30067943_?)del
NC_000022.10:g.(?_30077422)_(30077596_?)dup
NC_000022.10:g.(?_30090731)_(30090801_?)dup
NC_000022.11:g.(?_29603989)_(29604122_?)del
NC_000022.11:g.(?_29603989)_(29604122_?)dup
NC_000022.11:g.(?_29603989)_(29636886_?)del
NC_000022.11:g.(?_29603989)_(29681611_?)del
NC_000022.11:g.(?_29603989)_(29694812_?)dup
NC_000022.11:g.(?_29603999)_(29604122_?)del
NC_000022.11:g.(?_29603999)_(29604122_?)dup
NC_000022.11:g.(?_29603999)_(29642295_?)del
NC_000022.11:g.(?_29603999)_(29694802_?)dup
NC_000022.11:g.(?_29636741)_(29639222_?)del
NC_000022.11:g.(?_29636741)_(29661349_?)del
NC_000022.11:g.(?_29636741)_(29694812_?)dup
NC_000022.11:g.(?_29639090)_(29639212_?)del
NC_000022.11:g.(?_29642196)_(29642291_?)del
NC_000022.11:g.(?_29654651)_(29654731_?)del
NC_000022.11:g.(?_29658157)_(29661364_?)del
NC_000022.11:g.(?_29668327)_(29678329_?)del
NC_000022.11:g.(?_29668333)_(29671948_?)del
NC_000022.11:g.(?_29671816)_(29671958_?)del
NC_000022.11:g.(?_29671816)_(29678333_?)del
NC_000022.11:g.(?_29673259)_(29673496_?)del
NC_000022.11:g.29600322_29604002del
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.3(NF2):c.1739_1747delTCACCTTGC rs1060503674
NM_000268.4(NF2):c.1000-5C>T
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1003G>A (p.Glu335Lys)
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
NM_000268.4(NF2):c.1005G>A (p.Glu335=)
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.1011G>A (p.Gln337=)
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.1017C>T (p.Leu339=)
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.1020T>C (p.Ala340=) rs1556000130
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly)
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
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.1056G>A (p.Thr352=) rs145427713
NM_000268.4(NF2):c.1059G>A (p.Arg353=)
NM_000268.4(NF2):c.105C>T (p.Phe35=) rs976153071
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
NM_000268.4(NF2):c.1066T>A (p.Leu356Met)
NM_000268.4(NF2):c.1077G>A (p.Arg359=) rs878853923
NM_000268.4(NF2):c.1078C>T (p.Leu360=)
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458
NM_000268.4(NF2):c.1080G>C (p.Leu360=)
NM_000268.4(NF2):c.1081C>T (p.Leu361=)
NM_000268.4(NF2):c.1088T>A (p.Met363Lys)
NM_000268.4(NF2):c.1088T>G (p.Met363Arg)
NM_000268.4(NF2):c.10del (p.Ala4fs)
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.4(NF2):c.1104A>G (p.Thr368=) rs1601644321
NM_000268.4(NF2):c.1105A>G (p.Met369Val)
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414
NM_000268.4(NF2):c.111C>T (p.Cys37=) rs1302428933
NM_000268.4(NF2):c.1122+10G>A
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.1128G>C (p.Arg376=) rs757322524
NM_000268.4(NF2):c.1129T>G (p.Ser377Ala) rs1569305865
NM_000268.4(NF2):c.114+1G>A
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.114+7G>A
NM_000268.4(NF2):c.115-4G>A
NM_000268.4(NF2):c.115-6T>C
NM_000268.4(NF2):c.1155T>C (p.Ala385=)
NM_000268.4(NF2):c.115A>G (p.Met39Val)
NM_000268.4(NF2):c.1162del (p.Ala388fs)
NM_000268.4(NF2):c.1165C>G (p.Gln389Glu)
NM_000268.4(NF2):c.1170C>T (p.Ile390=)
NM_000268.4(NF2):c.1173C>T (p.Thr391=) rs769454739
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
NM_000268.4(NF2):c.1179G>A (p.Glu393=) rs1601648277
NM_000268.4(NF2):c.1197C>T (p.Ala399=)
NM_000268.4(NF2):c.1198C>T (p.Gln400Ter)
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976
NM_000268.4(NF2):c.1207G>A (p.Ala403Thr)
NM_000268.4(NF2):c.1207G>T (p.Ala403Ser)
NM_000268.4(NF2):c.1209A>C (p.Ala403=)
NM_000268.4(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter)
NM_000268.4(NF2):c.1212G>A (p.Glu404=) rs748403377
NM_000268.4(NF2):c.1215T>G (p.Ala405=) rs772219612
NM_000268.4(NF2):c.1218G>A (p.Glu406=)
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
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.1236C>T (p.Ile412=)
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
NM_000268.4(NF2):c.1242C>T (p.Ala414=)
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
NM_000268.4(NF2):c.1245A>G (p.Thr415=)
NM_000268.4(NF2):c.1248G>A (p.Ala416=) rs759993776
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.1257G>A (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1257G>C (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del)
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)
NM_000268.4(NF2):c.126A>G (p.Lys42=) rs1601578848
NM_000268.4(NF2):c.1270C>A (p.Arg424Ser) 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.1272C>A (p.Arg424=) rs781241303
NM_000268.4(NF2):c.1273C>T (p.Leu425=) rs142446775
NM_000268.4(NF2):c.1280A>C (p.Glu427Ala)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1290G>A (p.Val430=) rs756041768
NM_000268.4(NF2):c.1291C>T (p.Leu431=) rs1297186898
NM_000268.4(NF2):c.1293G>A (p.Leu431=) rs1340711783
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr)
NM_000268.4(NF2):c.1298C>T (p.Ala433Val)
NM_000268.4(NF2):c.1299C>T (p.Ala433=)
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078
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.1311A>G (p.Ala437=) rs144628209
NM_000268.4(NF2):c.1317G>A (p.Lys439=) rs1556000937
NM_000268.4(NF2):c.1323T>A (p.Ala441=) rs1556000942
NM_000268.4(NF2):c.132G>A (p.Lys44=) rs1224221346
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1336A>G (p.Arg446Gly)
NM_000268.4(NF2):c.133G>A (p.Asp45Asn)
NM_000268.4(NF2):c.1340+8G>T rs370604189
NM_000268.4(NF2):c.1340G>T (p.Arg447Met)
NM_000268.4(NF2):c.1341-5del
NM_000268.4(NF2):c.1341-7C>T rs574718828
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.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1350G>A (p.Glu450=) rs1231236846
NM_000268.4(NF2):c.1353A>G (p.Ala451=)
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.4(NF2):c.135C>T (p.Asp45=) rs752664255
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.1383A>C (p.Ala461=)
NM_000268.4(NF2):c.1383A>G (p.Ala461=)
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.1387G>T (p.Glu463Ter) rs74315503
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833
NM_000268.4(NF2):c.1395G>A (p.Glu465=) rs1556001388
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) 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.1413G>A (p.Lys471=) rs1323009570
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs)
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784
NM_000268.4(NF2):c.1419G>A (p.Leu473=)
NM_000268.4(NF2):c.1428C>T (p.Ala476=)
NM_000268.4(NF2):c.142G>A (p.Asp48Asn)
NM_000268.4(NF2):c.1431C>A (p.Thr477=)
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1440G>A (p.Thr480=) rs774373946
NM_000268.4(NF2):c.1442A>G (p.Tyr481Cys)
NM_000268.4(NF2):c.1443C>T (p.Tyr481=)
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+10G>C
NM_000268.4(NF2):c.1446+5G>T
NM_000268.4(NF2):c.1446+6C>G
NM_000268.4(NF2):c.1446+9G>A rs778709917
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373
NM_000268.4(NF2):c.1447-7T>C rs1182185192
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.1455C>T (p.Asn485=) rs368966931
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.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1470G>T (p.Pro490=)
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.1491C>T (p.Ser497=) rs1556002514
NM_000268.4(NF2):c.1493_1494delinsCT (p.Phe498Ser)
NM_000268.4(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.4(NF2):c.1500C>T (p.Leu500=) rs758182356
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.1509C>T (p.Asp503=)
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.1518T>A (p.Ser506=)
NM_000268.4(NF2):c.1521C>T (p.Phe507=)
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764
NM_000268.4(NF2):c.1522G>T (p.Asp508Tyr)
NM_000268.4(NF2):c.1524C>T (p.Asp508=)
NM_000268.4(NF2):c.1527C>T (p.Phe509=)
NM_000268.4(NF2):c.1533T>C (p.Asp511=) rs1601659271
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.1548G>T (p.Arg516=) rs534398531
NM_000268.4(NF2):c.154C>T (p.Arg52Trp)
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1560G>A (p.Glu520=)
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu)
NM_000268.4(NF2):c.1569A>G (p.Lys523=)
NM_000268.4(NF2):c.1574+10C>T
NM_000268.4(NF2):c.1574+7A>G rs1601659412
NM_000268.4(NF2):c.1574+9C>A
NM_000268.4(NF2):c.1575-2A>G
NM_000268.4(NF2):c.1575-6C>G
NM_000268.4(NF2):c.1575-6C>T rs1350177470
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.1606C>T (p.Gln536Ter)
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1617C>T (p.Leu539=) rs1556003665
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164
NM_000268.4(NF2):c.1621G>T (p.Glu541Ter)
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
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.1638C>T (p.Ile546=) rs774264046
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486
NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) rs1601666156
NM_000268.4(NF2):c.1653G>A (p.Leu551=) rs1601666174
NM_000268.4(NF2):c.165G>A (p.Gly55=)
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.1671T>C (p.Ala557=) rs759780271
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.1698C>T (p.Ser566=) rs751987156
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
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.1722C>T (p.His574=) rs1041539951
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+2T>C
NM_000268.4(NF2):c.1737+5C>T
NM_000268.4(NF2):c.1737+9G>A rs1601666607
NM_000268.4(NF2):c.1737G>A (p.Lys579=) rs1569312133
NM_000268.4(NF2):c.1743C>T (p.Thr581=)
NM_000268.4(NF2):c.1745T>C (p.Leu582Ser)
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915
NM_000268.4(NF2):c.1752C>T (p.Ser584=) rs370999558
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060
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.1764A>C (p.Arg588=) rs1601688952
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.1776T>C (p.Phe592=) rs1290530587
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.1785C>G (p.Leu595=)
NM_000268.4(NF2):c.17C>A (p.Ala6Asp)
NM_000268.4(NF2):c.182T>C (p.Phe61Ser)
NM_000268.4(NF2):c.183C>T (p.Phe61=)
NM_000268.4(NF2):c.186T>C (p.Phe62=) rs373178836
NM_000268.4(NF2):c.190C>T (p.Leu64=)
NM_000268.4(NF2):c.191T>C (p.Leu64Pro)
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
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.216G>C (p.Val72=) rs1601579272
NM_000268.4(NF2):c.219C>T (p.Ala73=)
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+15C>T rs200701337
NM_000268.4(NF2):c.240+1G>A
NM_000268.4(NF2):c.240+1G>C
NM_000268.4(NF2):c.240+2T>C
NM_000268.4(NF2):c.240+6G>A
NM_000268.4(NF2):c.240+6G>C
NM_000268.4(NF2):c.240+8T>C
NM_000268.4(NF2):c.241-10A>G
NM_000268.4(NF2):c.241-2A>G
NM_000268.4(NF2):c.241-4G>C
NM_000268.4(NF2):c.241-5T>C rs1378725834
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.246G>A (p.Leu82=) rs371270318
NM_000268.4(NF2):c.251A>G (p.His84Arg)
NM_000268.4(NF2):c.251dup (p.His84fs)
NM_000268.4(NF2):c.252T>C (p.His84=) rs374512699
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.264G>A (p.Lys88=)
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.273del (p.Val92fs) rs1555987647
NM_000268.4(NF2):c.274G>A (p.Val92Ile)
NM_000268.4(NF2):c.276C>T (p.Val92=)
NM_000268.4(NF2):c.279C>T (p.Thr93=) rs758722464
NM_000268.4(NF2):c.289T>C (p.Leu97=)
NM_000268.4(NF2):c.293C>A (p.Ala98Asp) rs1060503668
NM_000268.4(NF2):c.294C>G (p.Ala98=) rs1555987671
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.318A>G (p.Glu106=)
NM_000268.4(NF2):c.319G>A (p.Glu107Lys)
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)
NM_000268.4(NF2):c.320_321del (p.Glu107fs)
NM_000268.4(NF2):c.322del (p.Glu108fs)
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384
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.336G>A (p.Glu112=)
NM_000268.4(NF2):c.337A>C (p.Ile113Leu)
NM_000268.4(NF2):c.339C>T (p.Ile113=)
NM_000268.4(NF2):c.342A>G (p.Thr114=)
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.352T>G (p.Phe118Val)
NM_000268.4(NF2):c.354C>T (p.Phe118=) rs756564761
NM_000268.4(NF2):c.357C>T (p.Phe119=) rs1370689871
NM_000268.4(NF2):c.363+2T>C
NM_000268.4(NF2):c.363+7C>T
NM_000268.4(NF2):c.363+9G>A
NM_000268.4(NF2):c.364-3C>T
NM_000268.4(NF2):c.364-8C>T rs1601589373
NM_000268.4(NF2):c.36C>T (p.Ser12=)
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.375G>C (p.Gln125His)
NM_000268.4(NF2):c.375_376del (p.Gln125fs)
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.402T>C (p.Pro134=)
NM_000268.4(NF2):c.402T>G (p.Pro134=)
NM_000268.4(NF2):c.414T>C (p.Ser138=) rs1601589507
NM_000268.4(NF2):c.417G>A (p.Val139=)
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.432C>T (p.Tyr144=)
NM_000268.4(NF2):c.435C>T (p.Ala145=) rs955424447
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024
NM_000268.4(NF2):c.438C>G (p.Val146=)
NM_000268.4(NF2):c.440A>C (p.Gln147Pro)
NM_000268.4(NF2):c.447+10A>G
NM_000268.4(NF2):c.447+1del
NM_000268.4(NF2):c.447+6C>T
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963
NM_000268.4(NF2):c.457dup (p.Tyr153fs)
NM_000268.4(NF2):c.459C>T (p.Tyr153=) rs142972020
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526
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.481G>T (p.Gly161Ter)
NM_000268.4(NF2):c.48G>A (p.Arg16=) rs774973059
NM_000268.4(NF2):c.492C>T (p.Ala164=) rs1307586355
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.501A>G (p.Glu167=)
NM_000268.4(NF2):c.504G>A (p.Leu168=) rs182990439
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.516+10T>G rs758073951
NM_000268.4(NF2):c.516+7G>T
NM_000268.4(NF2):c.516+9T>C
NM_000268.4(NF2):c.516G>A (p.Arg172=)
NM_000268.4(NF2):c.517-10T>C
NM_000268.4(NF2):c.521T>C (p.Ile174Thr) rs1346860299
NM_000268.4(NF2):c.524A>G (p.Asn175Ser)
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter)
NM_000268.4(NF2):c.531T>C (p.Tyr177=)
NM_000268.4(NF2):c.542C>T (p.Pro181Leu)
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280
NM_000268.4(NF2):c.545A>G (p.Glu182Gly)
NM_000268.4(NF2):c.546A>G (p.Glu182=)
NM_000268.4(NF2):c.555G>A (p.Glu185=) rs1293410909
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.4(NF2):c.566C>T (p.Thr189Ile)
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133
NM_000268.4(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.4(NF2):c.57C>G (p.Pro19=)
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.587G>A (p.Arg196Gln) rs749176138
NM_000268.4(NF2):c.58A>C (p.Lys20Gln)
NM_000268.4(NF2):c.58A>T (p.Lys20Ter)
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
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.600-8C>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.648_649dup (p.Tyr217fs)
NM_000268.4(NF2):c.651C>T (p.Tyr217=)
NM_000268.4(NF2):c.652G>A (p.Gly218Ser) rs776818377
NM_000268.4(NF2):c.652G>T (p.Gly218Cys)
NM_000268.4(NF2):c.656_657insA (p.Asn220fs) rs1555994819
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
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.672C>T (p.Ile224=)
NM_000268.4(NF2):c.673C>T (p.Arg225Trp)
NM_000268.4(NF2):c.675+1del
NM_000268.4(NF2):c.675+6T>C
NM_000268.4(NF2):c.675G>T (p.Arg225=) rs1569295986
NM_000268.4(NF2):c.676-4A>G
NM_000268.4(NF2):c.676-9G>T
NM_000268.4(NF2):c.679A>T (p.Lys227Ter)
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.687C>A (p.Gly229=)
NM_000268.4(NF2):c.693G>A (p.Glu231=)
NM_000268.4(NF2):c.696G>A (p.Leu232=)
NM_000268.4(NF2):c.699G>T (p.Leu233=) rs780003734
NM_000268.4(NF2):c.69C>A (p.Thr23=)
NM_000268.4(NF2):c.69C>G (p.Thr23=)
NM_000268.4(NF2):c.69dup (p.Val24fs) rs1601515970
NM_000268.4(NF2):c.6C>T (p.Ala2=)
NM_000268.4(NF2):c.705A>C (p.Gly235=) rs749331641
NM_000268.4(NF2):c.709G>C (p.Asp237His)
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572
NM_000268.4(NF2):c.720G>T (p.Gly240=) rs769348972
NM_000268.4(NF2):c.726C>G (p.His242Gln) rs1480040681
NM_000268.4(NF2):c.726C>T (p.His242=)
NM_000268.4(NF2):c.72G>A (p.Val24=)
NM_000268.4(NF2):c.72G>C (p.Val24=) rs761062232
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.738T>C (p.Pro246=)
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.745A>C (p.Arg249=)
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.759G>A (p.Lys253=) rs760272926
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.771G>A (p.Pro257=) rs759032771
NM_000268.4(NF2):c.772T>G (p.Trp258Gly) rs1601624186
NM_000268.4(NF2):c.783C>T (p.Ile261=) rs765223726
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.785G>A (p.Arg262Gln)
NM_000268.4(NF2):c.789C>A (p.Asn263Lys)
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.78C>G (p.Ile26Met)
NM_000268.4(NF2):c.78C>T (p.Ile26=)
NM_000268.4(NF2):c.795G>A (p.Ser265=) rs376609988
NM_000268.4(NF2):c.798C>G (p.Tyr266Ter) rs917257652
NM_000268.4(NF2):c.798C>T (p.Tyr266=) rs917257652
NM_000268.4(NF2):c.810+23_810+25del rs765519341
NM_000268.4(NF2):c.810+6A>G
NM_000268.4(NF2):c.810+7C>T
NM_000268.4(NF2):c.810+9T>C rs143794864
NM_000268.4(NF2):c.811-10A>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.826C>T (p.Leu276=)
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.849C>T (p.Phe283=) rs1555997567
NM_000268.4(NF2):c.84C>T (p.Thr28=) rs1410448416
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.861C>T (p.Ser287=) rs143160499
NM_000268.4(NF2):c.872G>A (p.Arg291His) rs755200117
NM_000268.4(NF2):c.872G>T (p.Arg291Leu)
NM_000268.4(NF2):c.873T>C (p.Arg291=)
NM_000268.4(NF2):c.874G>A (p.Val292Ile)
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477
NM_000268.4(NF2):c.882G>A (p.Lys294=) rs146166875
NM_000268.4(NF2):c.886-3C>T
NM_000268.4(NF2):c.886-5C>T
NM_000268.4(NF2):c.886-9del
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.912T>C (p.His304=) rs200272173
NM_000268.4(NF2):c.915T>C (p.Asp305=) rs1601636823
NM_000268.4(NF2):c.916C>G (p.Leu306Val)
NM_000268.4(NF2):c.922A>G (p.Met308Val)
NM_000268.4(NF2):c.930A>G (p.Arg310=) rs1408103989
NM_000268.4(NF2):c.932G>A (p.Arg311Lys) rs1169276398
NM_000268.4(NF2):c.939C>A (p.Ala313=) rs747526252
NM_000268.4(NF2):c.939C>T (p.Ala313=) rs747526252
NM_000268.4(NF2):c.93C>A (p.Ala31=)
NM_000268.4(NF2):c.940G>A (p.Asp314Asn)
NM_000268.4(NF2):c.946T>C (p.Leu316=)
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.951A>G (p.Glu317=) rs1601636972
NM_000268.4(NF2):c.952G>A (p.Val318Ile)
NM_000268.4(NF2):c.952G>T (p.Val318Phe)
NM_000268.4(NF2):c.966A>G (p.Lys322=) rs746175548
NM_000268.4(NF2):c.970C>G (p.Gln324Glu)
NM_000268.4(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000268.4(NF2):c.974C>T (p.Ala325Val)
NM_000268.4(NF2):c.978G>A (p.Arg326=) rs1601637089
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028
NM_000268.4(NF2):c.992G>C (p.Arg331Thr)
NM_000268.4(NF2):c.993A>G (p.Arg331=) rs1601637132
NM_000268.4(NF2):c.999+7A>C
NM_000268.4(NF2):c.999G>C (p.Gln333His)
NM_000268.4(NF2):c.9G>A (p.Gly3=)
NM_016418.5(NF2):c.10-4_*13delinsG rs1556008383
NM_016418.5(NF2):c.1000-4G>A rs200113152
NM_016418.5(NF2):c.1000-7C>G rs776237839
NM_016418.5(NF2):c.1122+1G>A rs1569304774
NM_016418.5(NF2):c.1123-6C>T rs147898623
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+1G>A rs1601652425
NM_016418.5(NF2):c.1446+5G>A rs367829184
NM_016418.5(NF2):c.1446+6C>A rs878853924
NM_016418.5(NF2):c.1575-5G>A rs199622889
NM_016418.5(NF2):c.1737+1G>T rs1556003799
NM_016418.5(NF2):c.363+3A>T rs1060503669
NM_016418.5(NF2):c.364-9T>C rs767658752
NM_016418.5(NF2):c.447+15_447+17del rs1555988797
NM_016418.5(NF2):c.448-4C>G rs760733256
NM_016418.5(NF2):c.448-5T>C rs878853928
NM_016418.5(NF2):c.516+1G>A rs1601612044
NM_016418.5(NF2):c.516+2T>G rs1569293488
NM_016418.5(NF2):c.517-1G>A rs1064796632
NM_016418.5(NF2):c.517-2A>G rs1060503670
NM_016418.5(NF2):c.517-4G>A rs1165155285
NM_016418.5(NF2):c.517-92_568del rs1601613230
NM_016418.5(NF2):c.599+1G>T rs1555993352
NM_016418.5(NF2):c.599+3G>A rs768301915
NM_016418.5(NF2):c.600-6C>T rs749155274
NM_016418.5(NF2):c.675+1G>A rs1555994854
NM_016418.5(NF2):c.676-10G>A rs1601623842
NM_016418.5(NF2):c.676-2A>G rs1060503666
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+10G>C rs369317112
NM_016418.5(NF2):c.885+6T>C rs1601630628
NM_016418.5(NF2):c.999+1G>A rs1569302393
Single allele

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