ClinVar Miner

List of variants in gene NOTCH2 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP
GRCh37/hg19 1p12-11.2(chr1:120524159-120611245)x1
NM_024408.4(NOTCH2):c.1003T>C (p.Cys335Arg) rs1557826752
NM_024408.4(NOTCH2):c.1017T>C (p.Ile339=) rs1553200135
NM_024408.4(NOTCH2):c.1019A>G (p.Asp340Gly) rs1557826735
NM_024408.4(NOTCH2):c.1066C>T (p.Arg356Cys)
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=) rs782178170
NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser) rs370349228
NM_024408.4(NOTCH2):c.1245T>C (p.Asp415=) rs782057759
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) rs1557825800
NM_024408.4(NOTCH2):c.1287T>C (p.His429=) rs377469966
NM_024408.4(NOTCH2):c.1465G>T (p.Val489Leu) rs1553199690
NM_024408.4(NOTCH2):c.1543C>G (p.Arg515Gly)
NM_024408.4(NOTCH2):c.1554C>T (p.Cys518=) rs138817140
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.1625T>G (p.Leu542Arg) rs1557824882
NM_024408.4(NOTCH2):c.1635A>G (p.Ala545=)
NM_024408.4(NOTCH2):c.1653G>A (p.Pro551=) rs187731832
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys) rs1475043862
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) rs781999109
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741
NM_024408.4(NOTCH2):c.1847G>T (p.Cys616Phe) rs1553199297
NM_024408.4(NOTCH2):c.1856A>G (p.Asp619Gly) rs1557824123
NM_024408.4(NOTCH2):c.1861C>T (p.Arg621Cys) rs781827529
NM_024408.4(NOTCH2):c.18del (p.Ala7fs) rs372504208
NM_024408.4(NOTCH2):c.2027-4A>G rs1553198270
NM_024408.4(NOTCH2):c.2055G>A (p.Glu685=) rs1557820492
NM_024408.4(NOTCH2):c.2102T>A (p.Val701Glu) rs1557820445
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val) rs1230128244
NM_024408.4(NOTCH2):c.2366-9T>C
NM_024408.4(NOTCH2):c.2369A>G (p.Tyr790Cys) rs782522898
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=) rs138943874
NM_024408.4(NOTCH2):c.2452A>G (p.Thr818Ala) rs1448849716
NM_024408.4(NOTCH2):c.2474A>G (p.Tyr825Cys) rs886044849
NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=)
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln) rs782269360
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser)
NM_024408.4(NOTCH2):c.2719G>A (p.Asp907Asn) rs1557817079
NM_024408.4(NOTCH2):c.2732A>G (p.Asp911Gly) rs1557817072
NM_024408.4(NOTCH2):c.2752+8T>C
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)
NM_024408.4(NOTCH2):c.2824A>G (p.Thr942Ala) rs372549390
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
NM_024408.4(NOTCH2):c.2949T>C (p.His983=) rs1557814141
NM_024408.4(NOTCH2):c.2982-2A>G rs1553196358
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu)
NM_024408.4(NOTCH2):c.3036G>C (p.Leu1012Phe) rs1553196348
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722
NM_024408.4(NOTCH2):c.3069C>T (p.Leu1023=) rs1557813791
NM_024408.4(NOTCH2):c.306G>A (p.Gln102=) rs1202841553
NM_024408.4(NOTCH2):c.3104T>C (p.Leu1035Pro)
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3198C>G (p.Leu1066=)
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=) rs61752485
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987
NM_024408.4(NOTCH2):c.3235G>A (p.Val1079Ile) rs368918146
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser)
NM_024408.4(NOTCH2):c.3492C>T (p.Cys1164=)
NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys) rs782318679
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)
NM_024408.4(NOTCH2):c.358A>C (p.Thr120Pro) rs148915663
NM_024408.4(NOTCH2):c.3657C>A (p.Gly1219=) rs797044688
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)
NM_024408.4(NOTCH2):c.3706C>T (p.Leu1236Phe) rs782493421
NM_024408.4(NOTCH2):c.3754T>A (p.Cys1252Ser) rs1553194817
NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=) rs143045192
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=) rs782723019
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn)
NM_024408.4(NOTCH2):c.3934C>T (p.Pro1312Ser) rs1557807220
NM_024408.4(NOTCH2):c.3984T>C (p.Gly1328=)
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=) rs1390174762
NM_024408.4(NOTCH2):c.4005+9C>T rs886043601
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)
NM_024408.4(NOTCH2):c.4029G>C (p.Gln1343His) rs1299994808
NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=) rs753043164
NM_024408.4(NOTCH2):c.4130G>T (p.Gly1377Val) rs758311065
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn) rs886044453
NM_024408.4(NOTCH2):c.415G>C (p.Gly139Arg) rs1131692007
NM_024408.4(NOTCH2):c.4162A>G (p.Ser1388Gly) rs1557806739
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)
NM_024408.4(NOTCH2):c.4177C>T (p.Arg1393Cys) rs760072707
NM_024408.4(NOTCH2):c.4178G>A (p.Arg1393His) rs587735797
NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=) rs1553194472
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=) rs149906722
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met) rs758275919
NM_024408.4(NOTCH2):c.4294G>A (p.Asp1432Asn)
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile) rs745861610
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4462G>C (p.Glu1488Gln) rs1131691315
NM_024408.4(NOTCH2):c.4512-9C>T
NM_024408.4(NOTCH2):c.4578G>A (p.Glu1526=)
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp) rs552225415
NM_024408.4(NOTCH2):c.4723A>G (p.Thr1575Ala) rs769788569
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His)
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419
NM_024408.4(NOTCH2):c.4860-3C>T
NM_024408.4(NOTCH2):c.4928C>T (p.Thr1643Met) rs891328437
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719
NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=) rs886042285
NM_024408.4(NOTCH2):c.4945C>T (p.Leu1649Phe)
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=) rs201233415
NM_024408.4(NOTCH2):c.5123C>T (p.Ser1708Phe) rs761415665
NM_024408.4(NOTCH2):c.5153G>A (p.Arg1718His) rs774915799
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051
NM_024408.4(NOTCH2):c.5172C>G (p.His1724Gln) rs1557804894
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His) rs1557804884
NM_024408.4(NOTCH2):c.5214-10A>G rs761995764
NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile) rs747138507
NM_024408.4(NOTCH2):c.5310+5G>A rs1557804679
NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys) rs587778576
NM_024408.4(NOTCH2):c.5329C>T (p.Leu1777Phe) rs886044556
NM_024408.4(NOTCH2):c.5348C>G (p.Pro1783Arg)
NM_024408.4(NOTCH2):c.5362C>G (p.Pro1788Ala) rs1557804176
NM_024408.4(NOTCH2):c.5407C>T (p.Pro1803Ser) rs1557804130
NM_024408.4(NOTCH2):c.5413C>T (p.Leu1805=) rs886042822
NM_024408.4(NOTCH2):c.5480-7C>T rs368724241
NM_024408.4(NOTCH2):c.5518G>A (p.Gly1840Ser) rs1064796810
NM_024408.4(NOTCH2):c.5630G>T (p.Gly1877Val) rs1557803723
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) rs748716440
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064
NM_024408.4(NOTCH2):c.5740C>T (p.Leu1914Phe) rs1557803661
NM_024408.4(NOTCH2):c.5781+10A>C rs369586235
NM_024408.4(NOTCH2):c.5782-10C>T rs1220746088
NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser) rs373667418
NM_024408.4(NOTCH2):c.5834C>T (p.Thr1945Ile) rs1553193826
NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=)
NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=) rs587718458
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=) rs563486507
NM_024408.4(NOTCH2):c.5959G>T (p.Val1987Phe) rs1553193743
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp)
NM_024408.4(NOTCH2):c.6026A>G (p.Lys2009Arg) rs1557802966
NM_024408.4(NOTCH2):c.6027+10G>T rs774867522
NM_024408.4(NOTCH2):c.6027G>A (p.Lys2009=) rs1557802955
NM_024408.4(NOTCH2):c.6028-4G>A rs372465730
NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=)
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896
NM_024408.4(NOTCH2):c.6103A>C (p.Asn2035His) rs745697811
NM_024408.4(NOTCH2):c.6104A>G (p.Asn2035Ser) rs756949183
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.4(NOTCH2):c.6124A>G (p.Met2042Val) rs1244625283
NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly)
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)
NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln) rs192122939
NM_024408.4(NOTCH2):c.6152G>C (p.Arg2051Pro)
NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=) rs143282787
NM_024408.4(NOTCH2):c.6182T>C (p.Leu2061Pro) rs1553193616
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=)
NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) rs757880322
NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=)
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140
NM_024408.4(NOTCH2):c.6344G>A (p.Ser2115Asn) rs1557802288
NM_024408.4(NOTCH2):c.6345C>T (p.Ser2115=)
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg) rs148393324
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610
NM_024408.4(NOTCH2):c.6412A>G (p.Lys2138Glu)
NM_024408.4(NOTCH2):c.6464A>C (p.Glu2155Ala) rs886043600
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) rs1470762283
NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro) rs886042848
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val)
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)
NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=) rs1314464356
NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr) rs1557802029
NM_024408.4(NOTCH2):c.6703A>G (p.Ser2235Gly) rs886044626
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277
NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val) rs145628676
NM_024408.4(NOTCH2):c.6837T>A (p.His2279Gln) rs886044699
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=) rs886044699
NM_024408.4(NOTCH2):c.6859A>T (p.Arg2287Trp) rs1430185090
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430
NM_024408.4(NOTCH2):c.6921C>T (p.Phe2307=) rs886043678
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) rs373527990
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453
NM_024408.4(NOTCH2):c.6962C>T (p.Ala2321Val) rs1177513541
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578
NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser) rs1278379367
NM_024408.4(NOTCH2):c.6997G>A (p.Ala2333Thr) rs143506822
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val)
NM_024408.4(NOTCH2):c.7174T>C (p.Tyr2392His) rs778456880
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671
NM_024408.4(NOTCH2):c.7224C>G (p.Leu2408=) rs147795348
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) rs369912969
NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser)
NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=)
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)
NM_024408.4(NOTCH2):c.7356G>C (p.Gln2452His) rs1352825600
NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=) rs759456867
NM_024408.4(NOTCH2):c.7391_7393ACA[2] (p.Asn2466del) rs1288820640
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) rs771638958
NM_024408.4(NOTCH2):c.7416A>C (p.Ter2472Cys) rs1276272666
NM_024408.4(NOTCH2):c.752-12_752-10del rs1557834122
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser) rs1202374604
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)
NM_024408.4(NOTCH2):c.875-9C>G rs1324363153
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899
NM_024408.4(NOTCH2):c.965A>G (p.Tyr322Cys) rs1557826779
NM_024408.4(NOTCH2):c.975A>G (p.Val325=) rs886044854

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