List of variants in gene FLCN reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 92

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HGVS	dbSNP	gnomAD frequency
NM_144997.7(FLCN):c.1433-2A>G	rs398124528	0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	rs398124529	0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	rs879255683	0.00001
NM_144997.7(FLCN):c.249+5G>A	rs1064793127	0.00001
NM_144997.7(FLCN):c.502C>T (p.Arg168Cys)	rs587778367	0.00001
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)	rs1407566775	0.00001
NM_144997.7(FLCN):c.779+1G>T	rs758175953	0.00001
GRCh37/hg19 17p11.2(chr17:17117620-17118776)x1
NC_000017.11:g.(?_17223916)_(17224149_?)del
NM_144997.7(FLCN):c.1059del (p.Arg353fs)
NM_144997.7(FLCN):c.1063-2A>G	rs2144871276
NM_144997.7(FLCN):c.1093_1113del (p.Ala365_Gly371del)	rs2144870247
NM_144997.7(FLCN):c.1140_1153del (p.Asp380fs)
NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)
NM_144997.7(FLCN):c.1176+1G>A
NM_144997.7(FLCN):c.1176+1G>C	rs1555607929
NM_144997.7(FLCN):c.1176+1G>T	rs1555607929
NM_144997.7(FLCN):c.1176+2T>A	rs2046947920
NM_144997.7(FLCN):c.1176G>A (p.Arg392=)
NM_144997.7(FLCN):c.1177-5_1177-3del	rs767671406
NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)
NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter)	rs748148728
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)	rs1555611494
NM_144997.7(FLCN):c.1287dup (p.Val430fs)
NM_144997.7(FLCN):c.1300+1G>A	rs879255676
NM_144997.7(FLCN):c.1300+1G>C	rs879255676
NM_144997.7(FLCN):c.1300+2T>A
NM_144997.7(FLCN):c.1300+5G>C	rs746264578
NM_144997.7(FLCN):c.1301-1G>A
NM_144997.7(FLCN):c.1301-1G>C	rs2046884079
NM_144997.7(FLCN):c.1301-2A>C
NM_144997.7(FLCN):c.1301-2A>G	rs1555607296
NM_144997.7(FLCN):c.1301-2del
NM_144997.7(FLCN):c.1301-7_1304del	rs878854340
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)	rs1131690841
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)	rs137852929
NM_144997.7(FLCN):c.1432+1G>A	rs755959303
NM_144997.7(FLCN):c.1432+1G>T
NM_144997.7(FLCN):c.1432+2T>C	rs1567807517
NM_144997.7(FLCN):c.1433-1_1433delinsTC
NM_144997.7(FLCN):c.1433-2A>C	rs398124528
NM_144997.7(FLCN):c.1498del (p.Val500fs)	rs1597578776
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)	rs879255681
NM_144997.7(FLCN):c.1538+2T>C	rs2144831005
NM_144997.7(FLCN):c.1539-1_1540del
NM_144997.7(FLCN):c.1539-2A>G	rs878855214
NM_144997.7(FLCN):c.1549del (p.Val517fs)	rs1597574368
NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs)	rs1057518043
NM_144997.7(FLCN):c.1584del (p.Glu530fs)	rs1131690827
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)	rs398124532
NM_144997.7(FLCN):c.1615dup (p.Leu539fs)
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)	rs2144810362
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	rs1131690833
NM_144997.7(FLCN):c.1716del (p.Thr573fs)	rs2046815679
NM_144997.7(FLCN):c.189del (p.Ala64fs)	rs876660611
NM_144997.7(FLCN):c.1_18delinsTGTTGCAG (p.Met1fs)
NM_144997.7(FLCN):c.249+1G>A
NM_144997.7(FLCN):c.249+1G>T	rs1060502369
NM_144997.7(FLCN):c.249+2del
NM_144997.7(FLCN):c.250-1G>A	rs786202081
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_144997.7(FLCN):c.250-94_258delinsATTGCTGCAGGGCACCCGGGATATA
NM_144997.7(FLCN):c.256_269del (p.Ser87fs)	rs2145014205
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)	rs754616167
NM_144997.7(FLCN):c.379dup (p.Arg127fs)	rs2145010446
NM_144997.7(FLCN):c.396+1G>A	rs2145009900
NM_144997.7(FLCN):c.397-1G>T	rs2144983515
NM_144997.7(FLCN):c.397-2A>G
NM_144997.7(FLCN):c.437A>T (p.Glu146Val)
NM_144997.7(FLCN):c.446del (p.Gly149fs)	rs727504645
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)	rs786203218
NM_144997.7(FLCN):c.470TCA[1] (p.Ile158del)
NM_144997.7(FLCN):c.521_527del (p.Thr174fs)	rs1085307478
NM_144997.7(FLCN):c.538A>C (p.Ile180Leu)
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro)	rs876657646
NM_144997.7(FLCN):c.59_60delinsAA (p.Phe20Ter)
NM_144997.7(FLCN):c.618+1G>A
NM_144997.7(FLCN):c.753G>A (p.Trp251Ter)
NM_144997.7(FLCN):c.761T>C (p.Leu254Pro)
NM_144997.7(FLCN):c.762_763delinsTT (p.His255Tyr)
NM_144997.7(FLCN):c.763C>T (p.His255Tyr)	rs879255664
NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)
NM_144997.7(FLCN):c.780-2A>G	rs1555609514
NM_144997.7(FLCN):c.792del (p.Cys265fs)	rs1567816339
NM_144997.7(FLCN):c.871+132G>T
NM_144997.7(FLCN):c.871+1G>T
NM_144997.7(FLCN):c.871+2T>C
NM_144997.7(FLCN):c.871+3_871+4delinsTCCAGAT	rs2047088558
NM_144997.7(FLCN):c.872-1G>T	rs1567813248
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)	rs1597618162
NM_144997.7(FLCN):c.931_932dup (p.Val312fs)
NM_144997.7(FLCN):c.932del (p.Pro311fs)	rs1555608617

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