ClinVar Miner

Variants with conflicting interpretations studied for FLNB-Related Spectrum Disorders

Minimum review status of the submission for FLNB-Related Spectrum Disorders: Collection method of the submission for FLNB-Related Spectrum Disorders:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
66 49 0 41 100 0 0 137

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.

All conditions
FLNB-Related Spectrum Disorders uncertain significance likely benign benign
uncertain significance 0 82 13
likely benign 8 0 36
benign 2 5 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
not provided 0 50 0 40 100 0 0 136
not specified 0 37 0 20 10 0 0 30
FLNB-related disorder 0 18 0 1 15 0 0 16

All variants with conflicting interpretations #

Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00966
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) rs146851485 0.00763
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_001457.4(FLNB):c.669G>A (p.Pro223=) rs140815373 0.00527
NM_001457.4(FLNB):c.5646G>A (p.Pro1882=) rs114882667 0.00522
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) rs111330368 0.00503
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) rs115747856 0.00488
NM_001457.4(FLNB):c.4671+11G>A rs115346578 0.00461
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569 0.00436
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165 0.00406
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035 0.00360
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=) rs77989135 0.00333
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468 0.00301
NM_001457.4(FLNB):c.292+14C>G rs200721532 0.00260
NM_001457.4(FLNB):c.4222+8A>G rs190025781 0.00257
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) rs111996979 0.00252
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) rs138220431 0.00237
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_001457.4(FLNB):c.6741G>A (p.Ser2247=) rs143400214 0.00141
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=) rs149070858 0.00140
NM_001457.4(FLNB):c.420G>A (p.Thr140=) rs192491895 0.00134
NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile) rs146499414 0.00133
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00124
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=) rs140993979 0.00111
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln) rs137885421 0.00107
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln) rs150747960 0.00098
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln) rs151259375 0.00091
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) rs376893941 0.00078
NM_001457.4(FLNB):c.5785G>A (p.Asp1929Asn) rs146685642 0.00076
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00072
NM_001457.4(FLNB):c.292+12G>C rs201148582 0.00064
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) rs143831841 0.00061
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser) rs146093652 0.00054
NM_001457.4(FLNB):c.6680C>G (p.Ser2227Cys) rs138327769 0.00050
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00046
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn) rs150445941 0.00046
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr) rs142114129 0.00044
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001457.4(FLNB):c.5134G>A (p.Val1712Met) rs138141099 0.00032
NM_001457.4(FLNB):c.7041C>A (p.Phe2347Leu) rs139325959 0.00031
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903 0.00031
NM_001457.4(FLNB):c.4390+8T>A rs377095569 0.00029
NM_001457.4(FLNB):c.6928A>G (p.Ile2310Val) rs143005300 0.00029
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile) rs202143851 0.00024
NM_001457.4(FLNB):c.5887+8A>G rs143066905 0.00023
NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr) rs201544295 0.00022
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met) rs2276742 0.00022
NM_001457.4(FLNB):c.6755A>T (p.Tyr2252Phe) rs200567066 0.00022
NM_001457.4(FLNB):c.4414G>A (p.Val1472Met) rs141098733 0.00021
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu) rs139124254 0.00019
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447 0.00019
NM_001457.4(FLNB):c.7183G>A (p.Glu2395Lys) rs142023538 0.00019
NM_001457.4(FLNB):c.2059G>A (p.Gly687Arg) rs148679414 0.00018
NM_001457.4(FLNB):c.1868A>T (p.Asp623Val) rs145314043 0.00015
NM_001457.4(FLNB):c.5532C>T (p.Ile1844=) rs202240037 0.00015
NM_001457.4(FLNB):c.1290C>G (p.Ile430Met) rs147854989 0.00014
NM_001457.4(FLNB):c.4590T>C (p.Tyr1530=) rs141477764 0.00014
NM_001457.4(FLNB):c.864C>T (p.Asp288=) rs141151998 0.00014
NM_001457.4(FLNB):c.1748-5C>G rs369919081 0.00013
NM_001457.4(FLNB):c.4873G>A (p.Ala1625Thr) rs200727113 0.00013
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys) rs138034708 0.00013
NM_001457.4(FLNB):c.7641C>T (p.Ile2547=) rs139582437 0.00013
NM_001457.4(FLNB):c.2931G>A (p.Leu977=) rs574484752 0.00012
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) rs200619215 0.00011
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser) rs374090457 0.00011
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu) rs201254275 0.00011
NM_001457.4(FLNB):c.3753T>C (p.Phe1251=) rs751650356 0.00011
NM_001457.4(FLNB):c.762G>A (p.Pro254=) rs371715057 0.00011
NM_001457.4(FLNB):c.2035C>T (p.Pro679Ser) rs144158201 0.00010
NM_001457.4(FLNB):c.6416G>A (p.Arg2139His) rs578244438 0.00010
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys) rs146963572 0.00009
NM_001457.4(FLNB):c.6210C>T (p.Ile2070=) rs538937637 0.00008
NM_001457.4(FLNB):c.6666C>T (p.Gly2222=) rs144628013 0.00007
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr) rs145891515 0.00006
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) rs145910735 0.00006
NM_001457.4(FLNB):c.3138C>T (p.His1046=) rs371901421 0.00006
NM_001457.4(FLNB):c.6829C>T (p.Leu2277=) rs150602768 0.00006
NM_001457.4(FLNB):c.7164C>T (p.Ser2388=) rs757418085 0.00006
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu) rs200622119 0.00005
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=) rs184065600 0.00005
NM_001457.4(FLNB):c.1451G>C (p.Ser484Thr) rs199589693 0.00004
NM_001457.4(FLNB):c.1692C>T (p.Val564=) rs749242473 0.00004
NM_001457.4(FLNB):c.2575+12C>T rs750560502 0.00004
NM_001457.4(FLNB):c.2935G>A (p.Val979Met) rs376511120 0.00004
NM_001457.4(FLNB):c.3898+7C>T rs369277252 0.00004
NM_001457.4(FLNB):c.5327T>C (p.Ile1776Thr) rs1343990349 0.00004
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_001457.4(FLNB):c.6531C>T (p.Thr2177=) rs778562859 0.00004
NM_001457.4(FLNB):c.7487C>T (p.Ser2496Leu) rs149182236 0.00004
NM_001457.4(FLNB):c.1278C>T (p.His426=) rs572259451 0.00003
NM_001457.4(FLNB):c.3289G>A (p.Val1097Ile) rs144874876 0.00003
NM_001457.4(FLNB):c.3608C>T (p.Thr1203Met) rs750177565 0.00003
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr) rs370716086 0.00003
NM_001457.4(FLNB):c.4062-8C>T rs369254062 0.00003
NM_001457.4(FLNB):c.4170C>T (p.Phe1390=) rs374070003 0.00003
NM_001457.4(FLNB):c.4185C>T (p.Tyr1395=) rs373754367 0.00003
NM_001457.4(FLNB):c.2529C>T (p.His843=) rs762942290 0.00002
NM_001457.4(FLNB):c.6108C>T (p.Ser2036=) rs767210448 0.00002
NM_001457.4(FLNB):c.7167C>T (p.Ala2389=) rs781119139 0.00002
NM_001457.4(FLNB):c.7749G>A (p.Leu2583=) rs535252967 0.00002
NM_001457.4(FLNB):c.9A>G (p.Val3=) rs199846967 0.00002
NM_001457.4(FLNB):c.1148-8T>G rs376416099 0.00001
NM_001457.4(FLNB):c.1384C>T (p.Leu462=) rs139725835 0.00001
NM_001457.4(FLNB):c.2136G>A (p.Lys712=) rs777288340 0.00001
NM_001457.4(FLNB):c.2187C>T (p.His729=) rs751586969 0.00001
NM_001457.4(FLNB):c.2297C>T (p.Thr766Met) rs758045039 0.00001
NM_001457.4(FLNB):c.2643C>T (p.Asn881=) rs774413686 0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) rs761698437 0.00001
NM_001457.4(FLNB):c.5729-4C>T rs116142791 0.00001
NM_001457.4(FLNB):c.5816C>T (p.Thr1939Met) rs372372509 0.00001
NM_001457.4(FLNB):c.5916C>T (p.Gly1972=) rs112942586 0.00001
NM_001457.4(FLNB):c.6226G>A (p.Ala2076Thr) rs141559684 0.00001
NM_001457.4(FLNB):c.6237C>T (p.His2079=) rs767109451 0.00001
NM_001457.4(FLNB):c.7065C>T (p.His2355=) rs886058766 0.00001
NM_001457.4(FLNB):c.7176G>A (p.Thr2392=) rs770144367 0.00001
NM_001457.4(FLNB):c.7182C>T (p.Leu2394=) rs113513946 0.00001
NM_001457.4(FLNB):c.865G>A (p.Val289Met) rs764368324 0.00001
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile) rs200902568
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu) rs200902568
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln) rs377737248
NM_001457.4(FLNB):c.1409G>A (p.Arg470Gln) rs750354519
NM_001457.4(FLNB):c.2130G>C (p.Pro710=) rs371850879
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001457.4(FLNB):c.3409G>A (p.Val1137Met) rs150475174
NM_001457.4(FLNB):c.4362G>C (p.Pro1454=) rs150844992
NM_001457.4(FLNB):c.5042C>G (p.Pro1681Arg) rs780823510
NM_001457.4(FLNB):c.6195G>T (p.Val2065=) rs778850530
NM_001457.4(FLNB):c.6634+11C>T rs374708033
NM_001457.4(FLNB):c.7662C>A (p.Thr2554=) rs200328630
NM_001457.4(FLNB):c.798C>T (p.Pro266=) rs1341441238
NM_001457.4(FLNB):c.825C>T (p.Ala275=) rs749545528

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