ClinVar Miner

List of variants reported as uncertain significance for connective tissue neoplasm by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836
NM_000222.2(KIT):c.1553C>T (p.Pro518Leu) rs569408054
NM_000222.2(KIT):c.200C>G (p.Thr67Ser) rs144933028
NM_000222.2(KIT):c.2057G>A (p.Arg686His) rs143772138
NM_000222.2(KIT):c.2104C>G (p.Leu702Val) rs768847037
NM_000222.2(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.2(KIT):c.2836C>T (p.Arg946Ter) rs139000082
NM_000222.2(KIT):c.2863G>T (p.Val955Leu) rs1060502568
NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) rs773828910
NM_000222.2(KIT):c.2887A>G (p.Thr963Ala) rs773709702
NM_000222.2(KIT):c.2900C>G (p.Ser967Cys) rs1232060384
NM_000222.2(KIT):c.302A>G (p.His101Arg) rs1274601103
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517
NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3811A>G (p.Met1271Val) rs746583007
NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) rs1060500310
NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) rs786202492
NM_000267.3(NF1):c.4346G>A (p.Ser1449Asn) rs876660093
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) rs751904277
NM_000267.3(NF1):c.575G>A (p.Arg192Gln) rs587781670
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.845A>G (p.Gln282Arg) rs779034900
NM_000321.2(RB1):c.269G>T (p.Gly90Val) rs554727080
NM_000321.2(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000321.2(RB1):c.752G>A (p.Arg251Gln) rs772678500
NM_000321.2(RB1):c.850A>G (p.Asn284Asp) rs761609284
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-204A>G rs554351451
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660
NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val) rs374457534
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) rs201155045
NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg) rs370164300
NM_001145661.2(GATA2):c.182C>T (p.Ala61Val) rs375349195
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) rs753645971
NM_001145661.2(GATA2):c.829A>G (p.Ser277Gly) rs141800945
NM_001285829.1(CEBPA):c.-295C>A rs867113214
NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) rs72650673
NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg) rs749004431
NM_001754.4(RUNX1):c.787C>T (p.Pro263Ser) rs370315332
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147
NM_004364.4(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_004364.4(CEBPA):c.709C>A (p.Pro237Thr) rs921077083
NM_004364.4(CEBPA):c.724G>A (p.Gly242Ser) rs530569305
NM_005188.3(CBL):c.1463C>T (p.Ala488Val) rs377502790
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536
NM_022455.4(NSD1):c.1478C>T (p.Pro493Leu) rs140583358
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_172349.2(NSD1):c.31-22C>A rs144524958
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343

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