ClinVar Miner

List of variants in gene NF2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP
NC_000022.10:g.(?_29999978)_(30000111_?)del
NC_000022.10:g.(?_29999978)_(30077600_?)del
NC_000022.10:g.(?_29999982)_(30000107_?)dup
NC_000022.10:g.(?_30032730)_(30035211_?)del
NC_000022.10:g.(?_30032730)_(30057338_?)del
NC_000022.10:g.(?_30035079)_(30035201_?)del
NC_000022.10:g.(?_30038185)_(30038280_?)del
NC_000022.10:g.(?_30050640)_(30050720_?)del
NC_000022.10:g.(?_30064316)_(30074318_?)del
NC_000022.10:g.(?_30064322)_(30067937_?)del
NC_000022.10:g.(?_30069248)_(30069485_?)del
NC_000022.10:g.(?_30077422)_(30077596_?)dup
NC_000022.10:g.(?_30090731)_(30090801_?)dup
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.3(NF2):c.1000-4G>A rs200113152
NM_000268.3(NF2):c.1000-7C>G rs776237839
NM_000268.3(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.3(NF2):c.1003G>T (p.Glu335Ter)
NM_000268.3(NF2):c.1012C>T (p.Arg338Cys) rs761795291
NM_000268.3(NF2):c.1013G>A (p.Arg338His) rs768053145
NM_000268.3(NF2):c.1018G>A (p.Ala340Thr) rs780430071
NM_000268.3(NF2):c.1018G>T (p.Ala340Ser) rs780430071
NM_000268.3(NF2):c.1020T>C (p.Ala340=) rs1556000130
NM_000268.3(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.3(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.3(NF2):c.1037G>A (p.Arg346Lys) rs1556000154
NM_000268.3(NF2):c.1052G>A (p.Arg351His) rs771675702
NM_000268.3(NF2):c.1053C>T (p.Arg351=) rs1179494821
NM_000268.3(NF2):c.1055C>T (p.Thr352Met)
NM_000268.3(NF2):c.1056G>A (p.Thr352=) rs145427713
NM_000268.3(NF2):c.1077G>A (p.Arg359=) rs878853923
NM_000268.3(NF2):c.107A>G (p.Asn36Ser) rs372279458
NM_000268.3(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.3(NF2):c.1113C>T (p.Asn371=) rs142459414
NM_000268.3(NF2):c.111C>T (p.Cys37=) rs1302428933
NM_000268.3(NF2):c.1122+1G>A rs1569304774
NM_000268.3(NF2):c.1123-6C>T rs147898623
NM_000268.3(NF2):c.1123-7C>G
NM_000268.3(NF2):c.1124T>C (p.Met375Thr) rs1556000763
NM_000268.3(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.3(NF2):c.1128G>C (p.Arg376=) rs757322524
NM_000268.3(NF2):c.1129T>G (p.Ser377Ala) rs1569305865
NM_000268.3(NF2):c.114+6C>G rs1060503671
NM_000268.3(NF2):c.1206C>T (p.Ala402=) rs137953976
NM_000268.3(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.3(NF2):c.1215T>G (p.Ala405=) rs772219612
NM_000268.3(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.3(NF2):c.1231C>T (p.Arg411Cys)
NM_000268.3(NF2):c.1232G>A (p.Arg411His) rs201214090
NM_000268.3(NF2):c.1248G>A (p.Ala416=) rs759993776
NM_000268.3(NF2):c.1252C>T (p.Arg418Cys)
NM_000268.3(NF2):c.1253G>A (p.Arg418His) rs548217466
NM_000268.3(NF2):c.1270C>A (p.Arg424Ser)
NM_000268.3(NF2):c.1270C>T (p.Arg424Cys)
NM_000268.3(NF2):c.1271G>T (p.Arg424Leu) rs751182657
NM_000268.3(NF2):c.1273C>T (p.Leu425=) rs142446775
NM_000268.3(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.3(NF2):c.1290G>A (p.Val430=) rs756041768
NM_000268.3(NF2):c.12C>T (p.Ala4=) rs144477078
NM_000268.3(NF2):c.1300G>A (p.Glu434Lys) rs992662337
NM_000268.3(NF2):c.1301A>G (p.Glu434Gly)
NM_000268.3(NF2):c.1303G>T (p.Val435Leu) rs772334382
NM_000268.3(NF2):c.1311A>G (p.Ala437=) rs144628209
NM_000268.3(NF2):c.1317G>A (p.Lys439=) rs1556000937
NM_000268.3(NF2):c.1323T>A (p.Ala441=) rs1556000942
NM_000268.3(NF2):c.1332_1333AG[1] (p.Glu445fs)
NM_000268.3(NF2):c.1340+6G>T
NM_000268.3(NF2):c.1340+8G>T rs370604189
NM_000268.3(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.3(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.3(NF2):c.1364A>G (p.Lys455Arg) rs1318882444
NM_000268.3(NF2):c.1385G>A (p.Arg462His) rs373650983
NM_000268.3(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.3(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.3(NF2):c.1391C>T (p.Ala464Val) rs776109136
NM_000268.3(NF2):c.1392G>A (p.Ala464=) rs375819833
NM_000268.3(NF2):c.1396C>G (p.Arg466Gly) rs74315504
NM_000268.3(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.3(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.3(NF2):c.1400G>A (p.Arg467Lys)
NM_000268.3(NF2):c.1416C>T (p.Leu472=) rs148776784
NM_000268.3(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.3(NF2):c.1445C>T (p.Pro482Leu) rs766339217
NM_000268.3(NF2):c.1446+1G>A
NM_000268.3(NF2):c.1446+5G>A rs367829184
NM_000268.3(NF2):c.1446+6C>A rs878853924
NM_000268.3(NF2):c.1446G>A (p.Pro482=) rs753751373
NM_000268.3(NF2):c.1450A>G (p.Met484Val) rs1182896077
NM_000268.3(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.3(NF2):c.1460T>C (p.Ile487Thr)
NM_000268.3(NF2):c.1468C>T (p.Pro490Ser)
NM_000268.3(NF2):c.1469C>T (p.Pro490Leu)
NM_000268.3(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.3(NF2):c.1484T>G (p.Ile495Arg) rs1556002511
NM_000268.3(NF2):c.1490G>C (p.Ser497Thr) rs900545157
NM_000268.3(NF2):c.1491C>T (p.Ser497=) rs1556002514
NM_000268.3(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.3(NF2):c.1500C>T (p.Leu500=) rs758182356
NM_000268.3(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.3(NF2):c.1502T>C (p.Ile501Thr) rs767682136
NM_000268.3(NF2):c.1511G>A (p.Ser504Asn)
NM_000268.3(NF2):c.1517C>G (p.Ser506Cys)
NM_000268.3(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.3(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.3(NF2):c.1548G>T (p.Arg516=) rs534398531
NM_000268.3(NF2):c.1557G>A (p.Met519Ile)
NM_000268.3(NF2):c.1575-5G>A rs199622889
NM_000268.3(NF2):c.1575A>G (p.Lys525=) rs1060503673
NM_000268.3(NF2):c.157A>G (p.Thr53Ala)
NM_000268.3(NF2):c.1586T>C (p.Met529Thr) rs780818183
NM_000268.3(NF2):c.15C>G (p.Ile5Met)
NM_000268.3(NF2):c.1611G>T (p.Glu537Asp)
NM_000268.3(NF2):c.1617C>T (p.Leu539=) rs1556003665
NM_000268.3(NF2):c.1619A>G (p.Asn540Ser)
NM_000268.3(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.3(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.3(NF2):c.1638C>T (p.Ile546=) rs774264046
NM_000268.3(NF2):c.1639G>A (p.Glu547Lys) rs199669486
NM_000268.3(NF2):c.1646T>A (p.Leu549Ter)
NM_000268.3(NF2):c.1656_1657AG[2] (p.Arg554fs)
NM_000268.3(NF2):c.1671T>C (p.Ala557=) rs759780271
NM_000268.3(NF2):c.1678A>G (p.Ile560Val)
NM_000268.3(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.3(NF2):c.1688A>G (p.Asn563Ser)
NM_000268.3(NF2):c.1693A>T (p.Asn565Tyr)
NM_000268.3(NF2):c.1698C>T (p.Ser566=) rs751987156
NM_000268.3(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.3(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.3(NF2):c.1701C>G (p.Asp567Glu) rs1049732514
NM_000268.3(NF2):c.1702A>G (p.Arg568Gly)
NM_000268.3(NF2):c.1702_1703del (p.Arg568fs)
NM_000268.3(NF2):c.170G>A (p.Arg57Gln) rs368773485
NM_000268.3(NF2):c.1722C>T (p.His574=) rs1041539951
NM_000268.3(NF2):c.1737+1G>T rs1556003799
NM_000268.3(NF2):c.1737G>A (p.Lys579=) rs1569312133
NM_000268.3(NF2):c.1738-4_1741delinsG rs1556008383
NM_000268.3(NF2):c.1739_1747delTCACCTTGC rs1060503674
NM_000268.3(NF2):c.1749G>A (p.Gln583=) rs201911915
NM_000268.3(NF2):c.1752C>T (p.Ser584=) rs370999558
NM_000268.3(NF2):c.1753G>A (p.Ala585Thr) rs145446060
NM_000268.3(NF2):c.1765G>A (p.Val589Met) rs1293851600
NM_000268.3(NF2):c.1774T>C (p.Phe592Leu) rs764972504
NM_000268.3(NF2):c.1783C>T (p.Leu595Phe)
NM_000268.3(NF2):c.196T>A (p.Tyr66Asn) rs772274240
NM_000268.3(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.3(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863
NM_000268.3(NF2):c.246G>A (p.Leu82=) rs371270318
NM_000268.3(NF2):c.255T>C (p.Asp85=) rs375802248
NM_000268.3(NF2):c.271C>A (p.Pro91Thr) rs1555987645
NM_000268.3(NF2):c.272C>A (p.Pro91Gln) rs1569281659
NM_000268.3(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.3(NF2):c.293C>A (p.Ala98Asp) rs1060503668
NM_000268.3(NF2):c.294C>G (p.Ala98=) rs1555987671
NM_000268.3(NF2):c.296A>G (p.Lys99Arg)
NM_000268.3(NF2):c.300T>A (p.Phe100Leu) rs1555987677
NM_000268.3(NF2):c.302A>T (p.Tyr101Phe) rs1240469044
NM_000268.3(NF2):c.305C>G (p.Pro102Arg)
NM_000268.3(NF2):c.325C>T (p.Leu109=) rs201603384
NM_000268.3(NF2):c.326T>C (p.Leu109Pro)
NM_000268.3(NF2):c.328G>C (p.Val110Leu)
NM_000268.3(NF2):c.343C>G (p.Gln115Glu)
NM_000268.3(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.3(NF2):c.347A>G (p.His116Arg)
NM_000268.3(NF2):c.354C>T (p.Phe118=) rs756564761
NM_000268.3(NF2):c.363+3A>T rs1060503669
NM_000268.3(NF2):c.364-9T>C rs767658752
NM_000268.3(NF2):c.370A>C (p.Lys124Gln)
NM_000268.3(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.3(NF2):c.3_14del (p.Met1_Ala4del) rs1351718417
NM_000268.3(NF2):c.400C>T (p.Pro134Ser) rs1555988776
NM_000268.3(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.3(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.3(NF2):c.436G>A (p.Val146Ile)
NM_000268.3(NF2):c.447+15_447+17del rs1555988797
NM_000268.3(NF2):c.448-4C>G rs760733256
NM_000268.3(NF2):c.448-5T>C rs878853928
NM_000268.3(NF2):c.457T>C (p.Tyr153His)
NM_000268.3(NF2):c.459C>T (p.Tyr153=) rs142972020
NM_000268.3(NF2):c.465C>T (p.Pro155=) rs374911526
NM_000268.3(NF2):c.478C>T (p.Arg160Trp) rs150667239
NM_000268.3(NF2):c.479G>A (p.Arg160Gln)
NM_000268.3(NF2):c.48G>A (p.Arg16=) rs774973059
NM_000268.3(NF2):c.495A>G (p.Gln165=)
NM_000268.3(NF2):c.497A>T (p.Glu166Val)
NM_000268.3(NF2):c.515G>A (p.Arg172Lys)
NM_000268.3(NF2):c.516+1G>A
NM_000268.3(NF2):c.516+2T>G rs1569293488
NM_000268.3(NF2):c.517-2A>G rs1060503670
NM_000268.3(NF2):c.517-4G>A rs1165155285
NM_000268.3(NF2):c.517-98_562del
NM_000268.3(NF2):c.521T>C (p.Ile174Thr) rs1346860299
NM_000268.3(NF2):c.543G>A (p.Pro181=) rs139838280
NM_000268.3(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.3(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.3(NF2):c.576C>T (p.Tyr192=) rs149803133
NM_000268.3(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.3(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.3(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.3(NF2):c.595G>A (p.Ala199Thr) rs1261707371
NM_000268.3(NF2):c.599+1G>T rs1555993352
NM_000268.3(NF2):c.599+3G>A rs768301915
NM_000268.3(NF2):c.600-6C>T rs749155274
NM_000268.3(NF2):c.602A>T (p.Asp201Val)
NM_000268.3(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.3(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000268.3(NF2):c.614T>C (p.Met205Thr) rs747871414
NM_000268.3(NF2):c.652G>A (p.Gly218Ser)
NM_000268.3(NF2):c.656_657insA (p.Asn220fs) rs1555994819
NM_000268.3(NF2):c.658A>T (p.Asn220Tyr)
NM_000268.3(NF2):c.662A>G (p.Tyr221Cys)
NM_000268.3(NF2):c.670A>G (p.Ile224Val)
NM_000268.3(NF2):c.675+1G>A rs1555994854
NM_000268.3(NF2):c.675G>T (p.Arg225=) rs1569295986
NM_000268.3(NF2):c.676-10G>A
NM_000268.3(NF2):c.676-2A>G rs1060503666
NM_000268.3(NF2):c.683A>G (p.Lys228Arg) rs145384260
NM_000268.3(NF2):c.685G>T (p.Gly229Cys)
NM_000268.3(NF2):c.69dup (p.Val24fs)
NM_000268.3(NF2):c.713C>T (p.Ala238Val)
NM_000268.3(NF2):c.726C>G (p.His242Gln)
NM_000268.3(NF2):c.736C>T (p.Pro246Ser) rs1569297802
NM_000268.3(NF2):c.749T>A (p.Leu250Gln) rs1432132718
NM_000268.3(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.3(NF2):c.758A>G (p.Lys253Arg)
NM_000268.3(NF2):c.770C>T (p.Pro257Leu)
NM_000268.3(NF2):c.771G>A (p.Pro257=) rs759032771
NM_000268.3(NF2):c.772T>G (p.Trp258Gly)
NM_000268.3(NF2):c.783C>T (p.Ile261=) rs765223726
NM_000268.3(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.3(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.3(NF2):c.798C>G (p.Tyr266Ter) rs917257652
NM_000268.3(NF2):c.798C>T (p.Tyr266=) rs917257652
NM_000268.3(NF2):c.810+8_810+9del rs760095910
NM_000268.3(NF2):c.810_810+2dup rs1569297926
NM_000268.3(NF2):c.849C>T (p.Phe283=) rs1555997567
NM_000268.3(NF2):c.851A>G (p.Lys284Arg)
NM_000268.3(NF2):c.861C>T (p.Ser287=) rs143160499
NM_000268.3(NF2):c.872G>A (p.Arg291His)
NM_000268.3(NF2):c.879T>C (p.Asn293=) rs151198477
NM_000268.3(NF2):c.882G>A (p.Lys294=) rs146166875
NM_000268.3(NF2):c.885+10G>C rs369317112
NM_000268.3(NF2):c.885+6T>C
NM_000268.3(NF2):c.903C>T (p.Ile301=) rs199957176
NM_000268.3(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.3(NF2):c.911A>G (p.His304Arg) rs1555998800
NM_000268.3(NF2):c.912T>C (p.His304=) rs200272173
NM_000268.3(NF2):c.932G>A (p.Arg311Lys) rs1169276398
NM_000268.3(NF2):c.947T>G (p.Leu316Trp) rs750633919
NM_000268.3(NF2):c.966A>G (p.Lys322=) rs746175548
NM_000268.3(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000268.3(NF2):c.983A>T (p.Glu328Val) rs200372028
NM_000268.3(NF2):c.999+1G>A rs1569302393
Single allele

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