ClinVar Miner

Variants in gene FLCN with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
2017 239 6 53 44 0 7 94

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 19 4 0 0
likely pathogenic 19 0 3 0 0
uncertain significance 4 4 5 40 13
likely benign 0 0 40 0 34
benign 0 0 13 34 1

All variants with conflicting interpretations #

Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.871+36G>A rs3744124 0.07420
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_144997.7(FLCN):c.-176G>A rs117215381 0.00772
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_144997.7(FLCN):c.*17G>T rs115885284 0.00549
NM_144997.7(FLCN):c.1177-21G>A rs150687840 0.00276
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_144997.7(FLCN):c.871+16T>A rs116643153 0.00146
NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala) rs151312899 0.00080
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156 0.00053
NM_144997.7(FLCN):c.1155G>T (p.Gln385His) rs141250189 0.00038
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys) rs143183215 0.00037
NM_144997.7(FLCN):c.735A>C (p.Thr245=) rs150175875 0.00032
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_144997.7(FLCN):c.931C>T (p.Pro311Ser) rs140246224 0.00029
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_144997.7(FLCN):c.1326C>T (p.His442=) rs145004158 0.00023
NM_144997.7(FLCN):c.246C>T (p.Cys82=) rs150712346 0.00020
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00020
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_144997.7(FLCN):c.-431C>T rs138847774 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) rs138070947 0.00017
NM_144997.7(FLCN):c.1062+7G>A rs540198776 0.00016
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly) rs199786696 0.00016
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) rs200660337 0.00014
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu) rs138031155 0.00012
NM_144997.7(FLCN):c.1539-6C>T rs779028759 0.00009
NM_144997.7(FLCN):c.779+9C>T rs373504780 0.00009
NM_144997.7(FLCN):c.687C>T (p.Phe229=) rs754710935 0.00008
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys) rs143525924 0.00007
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg) rs786203348 0.00006
NM_144997.7(FLCN):c.444C>T (p.His148=) rs376825814 0.00006
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu) rs565447853 0.00005
NM_144997.7(FLCN):c.1300+14C>T rs200823760 0.00005
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His) rs770077517 0.00005
NM_144997.7(FLCN):c.1389C>T (p.Tyr463=) rs137852929 0.00005
NM_144997.7(FLCN):c.1692C>T (p.His564=) rs201810397 0.00005
NM_144997.7(FLCN):c.249+13G>C rs200103733 0.00005
NM_144997.7(FLCN):c.708C>T (p.Asn236=) rs750394475 0.00005
NM_144997.7(FLCN):c.1300+12C>T rs565983064 0.00004
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala) rs144883828 0.00004
NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu) rs756944795 0.00004
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln) rs777826268 0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144 0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys) rs558699420 0.00003
NM_144997.7(FLCN):c.779+5C>T rs745645385 0.00003
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.249+4A>G rs753648691 0.00002
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln) rs375352888 0.00001
NM_144997.7(FLCN):c.1160C>T (p.Ala387Val) rs1431737113 0.00001
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=) rs561236067 0.00001
NM_144997.7(FLCN):c.1312A>T (p.Ile438Phe) rs759743111 0.00001
NM_144997.7(FLCN):c.1415C>T (p.Pro472Leu) rs1180118315 0.00001
NM_144997.7(FLCN):c.1464G>A (p.Ala488=) rs747029882 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.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_144997.7(FLCN):c.257G>A (p.Arg86Gln) rs765550303 0.00001
NM_144997.7(FLCN):c.1063-2A>G rs2144871276
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1198G>T (p.Val400Phe) rs148257120
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter) rs1555611494
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1451A>G (p.Asn484Ser) rs1010980331
NM_144997.7(FLCN):c.1482C>T (p.Asn494=) rs1597578831
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.1616dup (p.Ala541fs) rs2144810362
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.1665_1666insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly556fs)
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.250-7T>C rs748857550
NM_144997.7(FLCN):c.31T>G (p.Cys11Gly) rs879255659
NM_144997.7(FLCN):c.396+1G>A rs2145009900
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.521_527del (p.Thr174fs) rs1085307478
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) rs876657646
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_144997.7(FLCN):c.779+6G>A rs778530618
NM_144997.7(FLCN):c.871+22C>T
Single allele

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