ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NM_000268.3(NF2):c.1739_1747delTCACCTTGC rs1060503674
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.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu) rs754087071
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.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1060G>A (p.Asp354Asn) rs1435353346
NM_000268.4(NF2):c.107A>T (p.Asn36Ile) rs372279458
NM_000268.4(NF2):c.1092A>T (p.Lys364Asn) rs1601644296
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1163C>T (p.Ala388Val) rs587778553
NM_000268.4(NF2):c.1183G>T (p.Ala395Ser) rs1601648303
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090
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.1270C>A (p.Arg424Ser) rs763826793
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657
NM_000268.4(NF2):c.1303G>A (p.Val435Met) rs772334382
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys) rs145666157
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217
NM_000268.4(NF2):c.1450A>G (p.Met484Val) rs1182896077
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.1463C>T (p.Pro488Leu) rs1173959854
NM_000268.4(NF2):c.1465_1467del (p.Ala489del) rs1601658938
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1586T>C (p.Met529Thr) rs780818183
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486
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.1688A>G (p.Asn563Ser) rs768303416
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.16G>C (p.Ala6Pro) rs1601515753
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485
NM_000268.4(NF2):c.1721A>G (p.His574Arg) rs1601666509
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser) rs1601666549
NM_000268.4(NF2):c.1741A>C (p.Thr581Pro) rs1601688849
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600
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.196T>A (p.Tyr66Asn) rs772274240
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863
NM_000268.4(NF2):c.25A>G (p.Met9Val) rs1249717688
NM_000268.4(NF2):c.281T>G (p.Phe94Cys) rs1601583588
NM_000268.4(NF2):c.296A>G (p.Lys99Arg) rs181794923
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe) rs1240469044
NM_000268.4(NF2):c.334G>A (p.Glu112Lys) rs781593146
NM_000268.4(NF2):c.342_344ACA[1] (p.Gln115del) rs1601583772
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.361C>G (p.Gln121Glu) rs1006294051
NM_000268.4(NF2):c.364-5T>C rs1330676517
NM_000268.4(NF2):c.433G>A (p.Ala145Thr) rs1185977513
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.525T>A (p.Asn175Lys) rs1601613495
NM_000268.4(NF2):c.56C>G (p.Pro19Arg) rs1601515928
NM_000268.4(NF2):c.587G>A (p.Arg196Gln) rs749176138
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371
NM_000268.4(NF2):c.599+5G>A rs1601613749
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.619T>C (p.Tyr207His) rs1601618565
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys) rs746025177
NM_000268.4(NF2):c.676A>C (p.Asn226His) rs886057336
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260
NM_000268.4(NF2):c.691G>C (p.Glu231Gln) rs770019352
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572
NM_000268.4(NF2):c.71T>C (p.Val24Ala) rs773714780
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.766T>C (p.Phe256Leu) rs1474769404
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.794C>T (p.Ser265Leu) rs1601624241
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.831T>G (p.Asp277Glu) rs762883753
NM_000268.4(NF2):c.845T>C (p.Val282Ala) rs1601630493
NM_000268.4(NF2):c.872G>A (p.Arg291His) rs755200117
NM_000268.4(NF2):c.88G>A (p.Asp30Asn) rs1601516058
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_016418.5(NF2):c.1446+5G>A rs367829184
NM_016418.5(NF2):c.1574+4T>C rs1556002586
NM_016418.5(NF2):c.448-5T>C rs878853928
NM_016418.5(NF2):c.599+3G>A rs768301915

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