ClinVar Miner

List of variants in gene FLCN reported as pathogenic by GeneDx

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Total variants: 63
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HGVS dbSNP
NM_144997.7(FLCN):c.1021del (p.Arg341fs) rs1060502368
NM_144997.7(FLCN):c.1062+2T>C rs886039370
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) rs398124524
NM_144997.7(FLCN):c.113del (p.Ser38fs) rs878855212
NM_144997.7(FLCN):c.1177-2A>G rs1057520528
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1179del (p.Met394fs) rs398124525
NM_144997.7(FLCN):c.1203dup (p.Ile402fs) rs398124526
NM_144997.7(FLCN):c.1219del (p.Ser407fs) rs878855213
NM_144997.7(FLCN):c.1227C>A (p.Tyr409Ter) rs561236067
NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter) rs561236067
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1285_1286insG (p.His429fs) rs1555607651
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1286dup (p.His429fs) rs879255675
NM_144997.7(FLCN):c.1300+2T>G rs1064793766
NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter) rs1266098984
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs) rs1085307771
NM_144997.7(FLCN):c.1379_1380del (p.Leu460fs) rs1064793128
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1433-2A>G rs398124528
NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter) rs886042033
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del) rs879255681
NM_144997.7(FLCN):c.1540A>T (p.Lys514Ter) rs886041478
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683
NM_144997.7(FLCN):c.158del (p.Gln53fs) rs1131690825
NM_144997.7(FLCN):c.1601del (p.Lys534fs) rs886039371
NM_144997.7(FLCN):c.171dup (p.Met58fs) rs886041203
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.233del (p.Lys78fs) rs1555611377
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.241_242del (p.Met81fs) rs1057518147
NM_144997.7(FLCN):c.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) rs398124535
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) rs754616167
NM_144997.7(FLCN):c.347dup (p.Leu117fs) rs776896550
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_144997.7(FLCN):c.49del (p.Arg17fs) rs758385503
NM_144997.7(FLCN):c.49dup (p.Arg17fs) rs758385503
NM_144997.7(FLCN):c.521_527del (p.Thr174fs) rs1085307478
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter) rs876658409
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_144997.7(FLCN):c.59del (p.Phe20fs) rs876658390
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs) rs879255661
NM_144997.7(FLCN):c.649C>T (p.Gln217Ter) rs1555609899
NM_144997.7(FLCN):c.708del (p.Asn236fs) rs886039369
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_144997.7(FLCN):c.779+1G>T rs758175953
NM_144997.7(FLCN):c.780-1G>T rs878855218
NM_144997.7(FLCN):c.780-2A>G rs1555609514
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter) rs879255668
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) rs398124542
NM_144997.7(FLCN):c.927dup (p.Ala310fs) rs879255669
NM_144997.7(FLCN):c.932_933del (p.Pro311fs) rs1555608614

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