ClinVar Miner

List of variants in gene NF2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 391
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217 0.00010
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073 0.00003
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys) rs992662337 0.00003
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.1138A>G (p.Thr380Ala) rs1468789751 0.00002
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731 0.00002
NM_000268.4(NF2):c.614T>C (p.Met205Thr) rs747871414 0.00002
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260 0.00002
NM_000268.4(NF2):c.785G>A (p.Arg262Gln) rs1450914413 0.00002
NM_000268.4(NF2):c.916C>G (p.Leu306Val) rs1399716137 0.00002
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554 0.00001
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly) rs74315499 0.00001
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp) rs1277506366 0.00001
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp) rs867367858 0.00001
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys) rs1026724985 0.00001
NM_000268.4(NF2):c.1247C>T (p.Ala416Val) rs2066862902 0.00001
NM_000268.4(NF2):c.1270C>T (p.Arg424Cys) rs763826793 0.00001
NM_000268.4(NF2):c.1276A>T (p.Met426Leu) rs926406926 0.00001
NM_000268.4(NF2):c.1364A>G (p.Lys455Arg) rs1318882444 0.00001
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504 0.00001
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875 0.00001
NM_000268.4(NF2):c.142G>A (p.Asp48Asn) rs1352608076 0.00001
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217 0.00001
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875 0.00001
NM_000268.4(NF2):c.1463C>T (p.Pro488Leu) rs1173959854 0.00001
NM_000268.4(NF2):c.1511G>T (p.Ser504Ile) rs756366940 0.00001
NM_000268.4(NF2):c.1529A>G (p.Lys510Arg) rs886057337 0.00001
NM_000268.4(NF2):c.154C>T (p.Arg52Trp) rs764901064 0.00001
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886 0.00001
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747 0.00001
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser) rs768303416 0.00001
NM_000268.4(NF2):c.1691A>G (p.Glu564Gly) rs1416009957 0.00001
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) rs755032702 0.00001
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145 0.00001
NM_000268.4(NF2):c.182T>C (p.Phe61Ser) rs1286915234 0.00001
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240 0.00001
NM_000268.4(NF2):c.274G>A (p.Val92Ile) rs145935225 0.00001
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys) rs1240469044 0.00001
NM_000268.4(NF2):c.334G>A (p.Glu112Lys) rs781593146 0.00001
NM_000268.4(NF2):c.343C>G (p.Gln115Glu) rs1350618734 0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672 0.00001
NM_000268.4(NF2):c.364-5T>C rs1330676517 0.00001
NM_000268.4(NF2):c.521T>C (p.Ile174Thr) rs1346860299 0.00001
NM_000268.4(NF2):c.577G>A (p.Ala193Thr) rs1427589827 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.598A>G (p.Arg200Gly) rs1487106309 0.00001
NM_000268.4(NF2):c.673C>T (p.Arg225Trp) rs1386029079 0.00001
NM_000268.4(NF2):c.674G>A (p.Arg225Gln) rs543087642 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NM_000268.4(NF2):c.758A>G (p.Lys253Arg) rs773573049 0.00001
NM_000268.4(NF2):c.769C>T (p.Pro257Ser) rs777059212 0.00001
NM_000268.4(NF2):c.76A>G (p.Ile26Val) rs2064716753 0.00001
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935 0.00001
NM_000268.4(NF2):c.874G>A (p.Val292Ile) rs1442581021 0.00001
NM_000268.4(NF2):c.932G>A (p.Arg311Lys) rs1169276398 0.00001
NM_000268.4(NF2):c.940G>A (p.Asp314Asn) rs1365006505 0.00001
NM_000268.4(NF2):c.94G>A (p.Glu32Lys) rs373337083 0.00001
NM_000268.4(NF2):c.952G>A (p.Val318Ile) rs996057882 0.00001
NM_000268.4(NF2):c.999G>C (p.Gln333His) rs1469191017 0.00001
NM_000268.4(NF2):c.-1C>T
NM_000268.4(NF2):c.-4_-3delinsAA
NM_000268.4(NF2):c.-5G>A
NM_000268.4(NF2):c.-5G>T
NM_000268.4(NF2):c.1000-2A>T
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1001T>A (p.Met334Lys) rs2066798910
NM_000268.4(NF2):c.1001T>G (p.Met334Arg)
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp) rs140266312
NM_000268.4(NF2):c.1013G>T (p.Arg338Leu)
NM_000268.4(NF2):c.1016T>G (p.Leu339Arg)
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser) rs780430071
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.1028A>C (p.Lys343Thr)
NM_000268.4(NF2):c.1034T>G (p.Met345Arg)
NM_000268.4(NF2):c.1036A>T (p.Arg346Trp)
NM_000268.4(NF2):c.1040A>T (p.Glu347Val)
NM_000268.4(NF2):c.1058G>A (p.Arg353Lys) rs2147072682
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1060G>A (p.Asp354Asn) rs1435353346
NM_000268.4(NF2):c.1061A>C (p.Asp354Ala) rs1601644179
NM_000268.4(NF2):c.1064A>T (p.Glu355Val)
NM_000268.4(NF2):c.106A>G (p.Asn36Asp)
NM_000268.4(NF2):c.1075A>G (p.Arg359Gly)
NM_000268.4(NF2):c.1077G>C (p.Arg359Ser)
NM_000268.4(NF2):c.107A>T (p.Asn36Ile) rs372279458
NM_000268.4(NF2):c.1088T>G (p.Met363Arg) rs2066804849
NM_000268.4(NF2):c.1092A>T (p.Lys364Asn) rs1601644296
NM_000268.4(NF2):c.10G>T (p.Ala4Ser) rs2146659577
NM_000268.4(NF2):c.1100C>G (p.Ala367Gly)
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.4(NF2):c.1105A>C (p.Met369Leu)
NM_000268.4(NF2):c.1105A>G (p.Met369Val) rs1325119842
NM_000268.4(NF2):c.1107G>A (p.Met369Ile)
NM_000268.4(NF2):c.1117G>A (p.Ala373Thr)
NM_000268.4(NF2):c.1123A>G (p.Met375Val) rs2147082175
NM_000268.4(NF2):c.1124T>G (p.Met375Arg)
NM_000268.4(NF2):c.1125G>A (p.Met375Ile)
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1127G>C (p.Arg376Pro)
NM_000268.4(NF2):c.1127G>T (p.Arg376Leu) rs996964764
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1146C>A (p.Asp382Glu)
NM_000268.4(NF2):c.115-4G>T
NM_000268.4(NF2):c.115A>G (p.Met39Val) rs761188569
NM_000268.4(NF2):c.1163C>T (p.Ala388Val) rs587778553
NM_000268.4(NF2):c.1167G>C (p.Gln389His)
NM_000268.4(NF2):c.1183G>T (p.Ala395Ser) rs1601648303
NM_000268.4(NF2):c.1191_1193del (p.Leu398del)
NM_000268.4(NF2):c.1203G>T (p.Lys401Asn)
NM_000268.4(NF2):c.1205C>T (p.Ala402Val)
NM_000268.4(NF2):c.1220A>G (p.Gln407Arg)
NM_000268.4(NF2):c.1222G>A (p.Glu408Lys)
NM_000268.4(NF2):c.1229A>G (p.Gln410Arg)
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala) rs776970251
NM_000268.4(NF2):c.1251T>G (p.Ile417Met)
NM_000268.4(NF2):c.1256C>T (p.Thr419Met) rs1216540232
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del) rs2066863778
NM_000268.4(NF2):c.1268A>C (p.Lys423Thr)
NM_000268.4(NF2):c.1269G>T (p.Lys423Asn)
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.1276A>G (p.Met426Val)
NM_000268.4(NF2):c.1278G>A (p.Met426Ile)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr) rs1449875899
NM_000268.4(NF2):c.1303G>A (p.Val435Met) rs772334382
NM_000268.4(NF2):c.1315A>C (p.Lys439Gln)
NM_000268.4(NF2):c.1318A>T (p.Met440Leu)
NM_000268.4(NF2):c.1321G>A (p.Ala441Thr)
NM_000268.4(NF2):c.1327G>A (p.Glu443Lys) rs1181051479
NM_000268.4(NF2):c.1333G>C (p.Glu445Gln)
NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
NM_000268.4(NF2):c.1342G>A (p.Ala448Thr) rs2066911470
NM_000268.4(NF2):c.1343C>G (p.Ala448Gly) rs2066911555
NM_000268.4(NF2):c.1343C>T (p.Ala448Val) rs2066911555
NM_000268.4(NF2):c.134A>G (p.Asp45Gly)
NM_000268.4(NF2):c.1354G>A (p.Asp452Asn)
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.4(NF2):c.1358A>T (p.Gln453Leu)
NM_000268.4(NF2):c.1364A>C (p.Lys455Thr)
NM_000268.4(NF2):c.1371C>A (p.Asp457Glu) rs1220807117
NM_000268.4(NF2):c.1379A>G (p.Glu460Gly)
NM_000268.4(NF2):c.1382C>A (p.Ala461Glu)
NM_000268.4(NF2):c.1382C>T (p.Ala461Val)
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys) rs771143279
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1397G>T (p.Arg466Leu) rs866689896
NM_000268.4(NF2):c.1418T>G (p.Leu473Arg)
NM_000268.4(NF2):c.1421A>G (p.Glu474Gly)
NM_000268.4(NF2):c.1423A>G (p.Ile475Val)
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys) rs145666157
NM_000268.4(NF2):c.1457C>T (p.Pro486Leu)
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu) rs147506929
NM_000268.4(NF2):c.145T>G (p.Leu49Val)
NM_000268.4(NF2):c.1465_1467del (p.Ala489del) rs1601658938
NM_000268.4(NF2):c.1466C>T (p.Ala489Val) rs1156963577
NM_000268.4(NF2):c.1472T>C (p.Leu491Ser)
NM_000268.4(NF2):c.1478C>T (p.Pro493Leu)
NM_000268.4(NF2):c.1483A>G (p.Ile495Val) rs1194776777
NM_000268.4(NF2):c.1489A>G (p.Ser497Gly)
NM_000268.4(NF2):c.1490G>A (p.Ser497Asn)
NM_000268.4(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.4(NF2):c.1516T>A (p.Ser506Thr)
NM_000268.4(NF2):c.1521C>A (p.Phe507Leu)
NM_000268.4(NF2):c.1546C>T (p.Arg516Trp) rs762588182
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1555A>G (p.Met519Val)
NM_000268.4(NF2):c.1558G>A (p.Glu520Lys)
NM_000268.4(NF2):c.155G>A (p.Arg52Gln)
NM_000268.4(NF2):c.1562T>G (p.Ile521Arg)
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu) rs2067028599
NM_000268.4(NF2):c.1574+4T>C rs1556002586
NM_000268.4(NF2):c.1574+4T>G
NM_000268.4(NF2):c.1574A>G (p.Lys525Arg)
NM_000268.4(NF2):c.1575-12T>G
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn) rs1060503673
NM_000268.4(NF2):c.1577T>C (p.Val526Ala)
NM_000268.4(NF2):c.1579G>A (p.Glu527Lys)
NM_000268.4(NF2):c.1580A>T (p.Glu527Val)
NM_000268.4(NF2):c.1585A>G (p.Met529Val) rs1456599218
NM_000268.4(NF2):c.15C>G (p.Ile5Met) rs998779035
NM_000268.4(NF2):c.1601A>G (p.His534Arg) rs2147122511
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1615C>T (p.Leu539Phe)
NM_000268.4(NF2):c.1618A>G (p.Asn540Asp)
NM_000268.4(NF2):c.161T>G (p.Leu54Arg)
NM_000268.4(NF2):c.1624C>T (p.Leu542Phe)
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala) rs762953921
NM_000268.4(NF2):c.1633G>C (p.Glu545Gln)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1642G>A (p.Ala548Thr)
NM_000268.4(NF2):c.1643C>T (p.Ala548Val)
NM_000268.4(NF2):c.1650A>T (p.Lys550Asn)
NM_000268.4(NF2):c.1652_1655del (p.Leu551fs)
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly) rs1601666203
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys) rs2067134618
NM_000268.4(NF2):c.1661G>C (p.Arg554Thr)
NM_000268.4(NF2):c.1663G>C (p.Glu555Gln)
NM_000268.4(NF2):c.1666A>G (p.Thr556Ala)
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
NM_000268.4(NF2):c.1670C>G (p.Ala557Gly)
NM_000268.4(NF2):c.1672C>G (p.Leu558Val)
NM_000268.4(NF2):c.1676A>G (p.Asp559Gly)
NM_000268.4(NF2):c.1678A>T (p.Ile560Phe) rs557347747
NM_000268.4(NF2):c.1684C>A (p.His562Asn)
NM_000268.4(NF2):c.1684C>T (p.His562Tyr)
NM_000268.4(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.4(NF2):c.1687A>G (p.Asn563Asp)
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr) rs1601666359
NM_000268.4(NF2):c.1696T>C (p.Ser566Pro)
NM_000268.4(NF2):c.16G>A (p.Ala6Thr)
NM_000268.4(NF2):c.16G>C (p.Ala6Pro) rs1601515753
NM_000268.4(NF2):c.1703G>T (p.Arg568Met)
NM_000268.4(NF2):c.1704G>T (p.Arg568Ser)
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn) rs2067137196
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg) rs1379683835
NM_000268.4(NF2):c.1720C>A (p.His574Asn)
NM_000268.4(NF2):c.1721A>C (p.His574Pro) rs1601666509
NM_000268.4(NF2):c.1721A>G (p.His574Arg) rs1601666509
NM_000268.4(NF2):c.1722C>G (p.His574Gln)
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser) rs1601666549
NM_000268.4(NF2):c.1738-3C>A rs2147171627
NM_000268.4(NF2):c.1739_1747del (p.Leu580_Leu582del) rs1060503674
NM_000268.4(NF2):c.1741A>C (p.Thr581Pro) rs1601688849
NM_000268.4(NF2):c.174A>C (p.Glu58Asp)
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser) rs145446060
NM_000268.4(NF2):c.1758G>C (p.Lys586Asn)
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter) rs1341371726
NM_000268.4(NF2):c.1769C>G (p.Ala590Gly)
NM_000268.4(NF2):c.1780G>A (p.Glu594Lys)
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.179G>C (p.Trp60Ser)
NM_000268.4(NF2):c.194A>G (p.Gln65Arg)
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
NM_000268.4(NF2):c.20C>T (p.Ser7Phe) rs2146659687
NM_000268.4(NF2):c.211A>G (p.Thr71Ala)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.22C>G (p.Arg8Gly)
NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)
NM_000268.4(NF2):c.230T>C (p.Met77Thr)
NM_000268.4(NF2):c.231G>A (p.Met77Ile)
NM_000268.4(NF2):c.231G>T (p.Met77Ile)
NM_000268.4(NF2):c.235A>G (p.Lys79Glu)
NM_000268.4(NF2):c.23G>A (p.Arg8His)
NM_000268.4(NF2):c.23G>T (p.Arg8Leu) rs775564806
NM_000268.4(NF2):c.240+5G>A
NM_000268.4(NF2):c.241G>A (p.Val81Ile)
NM_000268.4(NF2):c.245T>C (p.Leu82Pro) rs2065727847
NM_000268.4(NF2):c.247G>C (p.Asp83His)
NM_000268.4(NF2):c.252T>A (p.His84Gln)
NM_000268.4(NF2):c.25A>G (p.Met9Val) rs1249717688
NM_000268.4(NF2):c.263A>G (p.Lys88Arg) rs547255779
NM_000268.4(NF2):c.269A>G (p.Glu90Gly)
NM_000268.4(NF2):c.272C>G (p.Pro91Arg) rs1569281659
NM_000268.4(NF2):c.281T>G (p.Phe94Cys) rs1601583588
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe) rs1240469044
NM_000268.4(NF2):c.320A>G (p.Glu107Gly)
NM_000268.4(NF2):c.328G>C (p.Val110Leu) rs1601583759
NM_000268.4(NF2):c.32T>G (p.Phe11Cys) rs2064714417
NM_000268.4(NF2):c.340A>T (p.Thr114Ser)
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.352T>G (p.Phe118Val) rs2065733287
NM_000268.4(NF2):c.361C>A (p.Gln121Lys)
NM_000268.4(NF2):c.361C>G (p.Gln121Glu) rs1006294051
NM_000268.4(NF2):c.362A>G (p.Gln121Arg) rs2146873198
NM_000268.4(NF2):c.364-3C>T rs2065829595
NM_000268.4(NF2):c.365T>C (p.Val122Ala)
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.375G>C (p.Gln125His) rs2065829948
NM_000268.4(NF2):c.376A>G (p.Ile126Val) rs780483061
NM_000268.4(NF2):c.392T>C (p.Ile131Thr)
NM_000268.4(NF2):c.392T>G (p.Ile131Ser)
NM_000268.4(NF2):c.3G>A (p.Met1Ile)
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.410C>A (p.Ala137Asp)
NM_000268.4(NF2):c.41T>C (p.Leu14Pro)
NM_000268.4(NF2):c.424G>T (p.Ala142Ser)
NM_000268.4(NF2):c.425C>A (p.Ala142Asp)
NM_000268.4(NF2):c.433G>A (p.Ala145Thr) rs1185977513
NM_000268.4(NF2):c.437T>C (p.Val146Ala)
NM_000268.4(NF2):c.43A>C (p.Lys15Gln)
NM_000268.4(NF2):c.445A>G (p.Lys149Glu)
NM_000268.4(NF2):c.447+3A>G
NM_000268.4(NF2):c.448-5T>C rs878853928
NM_000268.4(NF2):c.454G>A (p.Asp152Asn)
NM_000268.4(NF2):c.460G>A (p.Asp154Asn)
NM_000268.4(NF2):c.462C>A (p.Asp154Glu)
NM_000268.4(NF2):c.467G>A (p.Ser156Asn) rs2146966627
NM_000268.4(NF2):c.477G>T (p.Lys159Asn)
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.497A>T (p.Glu166Val) rs779353677
NM_000268.4(NF2):c.499G>C (p.Glu167Gln) rs2066248439
NM_000268.4(NF2):c.49A>C (p.Lys17Gln) rs1006592023
NM_000268.4(NF2):c.50A>G (p.Lys17Arg) rs2064714998
NM_000268.4(NF2):c.515G>T (p.Arg172Met)
NM_000268.4(NF2):c.516G>T (p.Arg172Ser)
NM_000268.4(NF2):c.517-5G>A rs2146971836
NM_000268.4(NF2):c.525T>A (p.Asn175Lys) rs1601613495
NM_000268.4(NF2):c.541C>G (p.Pro181Ala)
NM_000268.4(NF2):c.545A>G (p.Glu182Gly) rs2066279652
NM_000268.4(NF2):c.547A>T (p.Met183Leu)
NM_000268.4(NF2):c.55C>T (p.Pro19Ser) rs1477242482
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.560G>T (p.Arg187Ile)
NM_000268.4(NF2):c.56C>G (p.Pro19Arg) rs1601515928
NM_000268.4(NF2):c.578C>G (p.Ala193Gly)
NM_000268.4(NF2):c.578C>T (p.Ala193Val)
NM_000268.4(NF2):c.582G>C (p.Glu194Asp)
NM_000268.4(NF2):c.583C>T (p.His195Tyr)
NM_000268.4(NF2):c.586C>G (p.Arg196Gly) rs1555993336
NM_000268.4(NF2):c.587G>A (p.Arg196Gln) rs749176138
NM_000268.4(NF2):c.590G>A (p.Gly197Asp)
NM_000268.4(NF2):c.590G>T (p.Gly197Val)
NM_000268.4(NF2):c.593G>A (p.Arg198Gln) rs2146973900
NM_000268.4(NF2):c.593G>C (p.Arg198Pro)
NM_000268.4(NF2):c.599+5G>A rs1601613749
NM_000268.4(NF2):c.59A>C (p.Lys20Thr)
NM_000268.4(NF2):c.602A>G (p.Asp201Gly) rs1601618525
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.619T>C (p.Tyr207His) rs1601618565
NM_000268.4(NF2):c.61A>G (p.Thr21Ala)
NM_000268.4(NF2):c.620A>G (p.Tyr207Cys)
NM_000268.4(NF2):c.625A>G (p.Lys209Glu)
NM_000268.4(NF2):c.638A>G (p.Asp213Gly)
NM_000268.4(NF2):c.641T>A (p.Leu214Gln)
NM_000268.4(NF2):c.644A>C (p.Glu215Ala)
NM_000268.4(NF2):c.652G>T (p.Gly218Cys) rs776818377
NM_000268.4(NF2):c.655G>T (p.Val219Leu)
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.672C>G (p.Ile224Met)
NM_000268.4(NF2):c.674G>C (p.Arg225Pro)
NM_000268.4(NF2):c.676A>C (p.Asn226His) rs886057336
NM_000268.4(NF2):c.678T>A (p.Asn226Lys)
NM_000268.4(NF2):c.685G>A (p.Gly229Ser)
NM_000268.4(NF2):c.691G>C (p.Glu231Gln) rs770019352
NM_000268.4(NF2):c.698T>C (p.Leu233Pro)
NM_000268.4(NF2):c.712G>T (p.Ala238Ser)
NM_000268.4(NF2):c.719G>A (p.Gly240Glu)
NM_000268.4(NF2):c.721C>A (p.Leu241Ile)
NM_000268.4(NF2):c.727A>G (p.Ile243Val)
NM_000268.4(NF2):c.730T>C (p.Tyr244His)
NM_000268.4(NF2):c.733G>A (p.Asp245Asn) rs2066468835
NM_000268.4(NF2):c.733G>T (p.Asp245Tyr)
NM_000268.4(NF2):c.734A>G (p.Asp245Gly)
NM_000268.4(NF2):c.740A>G (p.Glu247Gly)
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.754C>T (p.Pro252Ser)
NM_000268.4(NF2):c.764_766del (p.Ser255del)
NM_000268.4(NF2):c.766T>C (p.Phe256Leu) rs1474769404
NM_000268.4(NF2):c.766T>G (p.Phe256Val)
NM_000268.4(NF2):c.76A>T (p.Ile26Phe)
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.783C>G (p.Ile261Met)
NM_000268.4(NF2):c.794C>T (p.Ser265Leu) rs1601624241
NM_000268.4(NF2):c.805A>G (p.Lys269Glu)
NM_000268.4(NF2):c.815C>T (p.Thr272Ile) rs1555997534
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.829G>T (p.Asp277Tyr)
NM_000268.4(NF2):c.831T>G (p.Asp277Glu) rs762883753
NM_000268.4(NF2):c.841G>C (p.Asp281His)
NM_000268.4(NF2):c.842A>T (p.Asp281Val) rs2147033520
NM_000268.4(NF2):c.845T>C (p.Val282Ala) rs1601630493
NM_000268.4(NF2):c.865A>G (p.Lys289Glu)
NM_000268.4(NF2):c.871C>T (p.Arg291Cys)
NM_000268.4(NF2):c.875T>C (p.Val292Ala)
NM_000268.4(NF2):c.878A>G (p.Asn293Ser)
NM_000268.4(NF2):c.88G>A (p.Asp30Asn) rs1601516058
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.4(NF2):c.908A>C (p.Asn303Thr)
NM_000268.4(NF2):c.922A>G (p.Met308Val) rs2066686693
NM_000268.4(NF2):c.923T>C (p.Met308Thr) rs1462083103
NM_000268.4(NF2):c.926G>A (p.Arg309Lys)
NM_000268.4(NF2):c.949G>A (p.Glu317Lys)
NM_000268.4(NF2):c.951A>G (p.Glu317=) rs1601636972
NM_000268.4(NF2):c.953T>G (p.Val318Gly)
NM_000268.4(NF2):c.960G>C (p.Gln320His)
NM_000268.4(NF2):c.961A>C (p.Met321Leu)
NM_000268.4(NF2):c.962T>C (p.Met321Thr) rs2066688680
NM_000268.4(NF2):c.968C>G (p.Ala323Gly)
NM_000268.4(NF2):c.979G>A (p.Glu327Lys)
NM_000268.4(NF2):c.97A>T (p.Met33Leu)
NM_000268.4(NF2):c.988G>A (p.Ala330Thr)
NM_000268.4(NF2):c.991A>G (p.Arg331Gly) rs2147053223
NM_000268.4(NF2):c.999+5G>A

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.