ClinVar Miner

Variants with conflicting interpretations studied for Bardet-Biedl syndrome

Coded as:
Minimum review status of the submission for Bardet-Biedl syndrome: Y axis collection method of the submission for Bardet-Biedl syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
446 302 5 106 75 1 11 181

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
Bardet-Biedl syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 3 20 6 1 1 0
likely pathogenic 7 0 0 0 0 0
uncertain significance 2 0 0 43 30 1
likely benign 1 2 16 2 53 0
benign 1 1 19 55 0 0

Condition to condition summary #

Total conditions: 28
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 51 0 68 40 0 2 106
not provided 0 77 2 25 28 0 1 50
Bardet-Biedl syndrome 859 21 1 29 18 0 2 49
Bardet-Biedl syndrome 1 0 23 0 31 5 0 1 35
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 0 3 0 6 13 0 0 19
Bardet-Biedl syndrome 2 0 9 0 6 3 0 0 9
Bardet-Biedl syndrome 10 0 7 0 5 0 0 1 6
Bardet-Biedl syndrome 12 0 7 0 2 1 0 2 5
Bardet-Biedl syndrome 4 0 0 2 0 0 0 2 4
Joubert syndrome; Meckel-Gruber syndrome 0 2 0 0 3 0 0 3
Retinal dystrophy 0 0 0 1 0 0 1 2
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 0 2 0 1 1 0 0 2
Bardet-Biedl syndrome 1, modifier of 0 0 0 0 0 1 0 1
Bardet-Biedl syndrome 11 0 1 0 0 0 0 1 1
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 2 0 0 1 0 0 1
Bardet-Biedl syndrome 20 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 0 3 0 1 0 0 0 1
Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 0 0 0 1 0 0 0 1
Bardet-Biedl syndrome 8 0 1 0 0 0 0 1 1
Bardet-Biedl syndrome; McKusick Kaufman syndrome 0 0 0 1 0 0 0 1
Cone/cone-rod dystrophy 0 0 0 0 0 0 1 1
Joubert syndrome 5 0 0 0 1 0 0 0 1
Limb-Girdle Muscular Dystrophy, Recessive 0 32 0 0 1 0 0 1
McKusick Kaufman syndrome 0 36 0 1 0 0 0 1
Postaxial foot polydactyly; Truncal obesity; Intellectual disability, moderate 0 0 0 1 0 0 0 1
Retinitis Pigmentosa, Recessive 0 32 0 0 1 0 0 1
Retinitis pigmentosa 0 1 0 1 0 0 0 1
Sarcotubular myopathy 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 181
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_001178007.1(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_001178007.1(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_006642.4(SDCCAG8):c.267T>C (p.Ser89=) rs148818431
NM_006642.4(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.4(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_012210.3(TRIM32):c.1108delA (p.Met370Cysfs) rs759376012
NM_012210.3(TRIM32):c.1140C>T (p.Thr380=) rs142715198
NM_012210.3(TRIM32):c.1181G>A (p.Arg394His) rs121434447
NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835
NM_012210.3(TRIM32):c.1254G>A (p.Val418=) rs1661300
NM_012210.3(TRIM32):c.1326T>A (p.Ile442=) rs1372713940
NM_012210.3(TRIM32):c.6T>G (p.Ala2=) rs141352486
NM_012210.3(TRIM32):c.770C>G (p.Thr257Arg) rs3747834
NM_015910.6(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.6(WDPCP):c.1788C>T (p.Asp596=) rs185980830
NM_015910.6(WDPCP):c.1916-6C>T rs2421862
NM_015910.6(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.6(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.6(WDPCP):c.76-15T>A rs200557033
NM_015910.6(WDPCP):c.802G>A (p.Gly268Ser) rs17617459
NM_015910.6(WDPCP):c.985G>A (p.Val329Met) rs199959383
NM_017777.3(MKS1):c.-18C>G rs116514023
NM_017777.3(MKS1):c.1014G>A (p.Leu338=) rs201998680
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.1671G>C (p.Leu557=) rs11548967
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_017777.3(MKS1):c.27C>T (p.Asp9=) rs369488349
NM_017777.3(MKS1):c.644+8G>T rs370117125
NM_017777.3(MKS1):c.80+14C>G rs761061379
NM_017777.3(MKS1):c.858+9A>G rs3826300
NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_018848.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547
NM_018848.3(MKKS):c.1595G>T (p.Gly532Val) rs1545
NM_024296.4(CCDC28B):c.330C>T (p.Phe110=) rs41263993
NM_024649.4(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.4(BBS1):c.1072delT (p.Tyr358Ilefs) rs1057516533
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.4(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.4(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.4(BBS1):c.1474-8C>T rs398124402
NM_024649.4(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.4(BBS1):c.1695+10G>A rs200276861
NM_024649.4(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.4(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.4(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.4(BBS1):c.432+13C>T rs759287238
NM_024649.4(BBS1):c.432+1G>A rs587777829
NM_024649.4(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.4(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.4(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.4(BBS1):c.951+1G>A rs746875134
NM_024685.3(BBS10):c.1091delA (p.Asn364Thrfs) rs727503818
NM_024685.3(BBS10):c.2030delG (p.Gly677Valfs) rs1064796315
NM_024685.3(BBS10):c.728_731delAAGA (p.Lys243Ilefs) rs786204671
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_031885.3(BBS2):c.*13C>T rs141170836
NM_031885.3(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.3(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.3(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.3(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.3(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.3(BBS2):c.1659+3A>G rs6499838
NM_031885.3(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.3(BBS2):c.1770delT (p.Phe590Leufs) rs193922711
NM_031885.3(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.3(BBS2):c.1910+9T>G rs751604858
NM_031885.3(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.3(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.3(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.3(BBS2):c.534+1G>T rs773862084
NM_031885.3(BBS2):c.534+7G>C rs886052149
NM_031885.3(BBS2):c.612+12C>A rs77019529
NM_031885.3(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.3(BBS2):c.805-20A>G rs41280892
NM_031885.3(BBS2):c.865A>G (p.Ile289Val) rs150384293
NM_032146.5(ARL6):c.480-8C>T rs77010939
NM_033028.4(BBS4):c.*1G>C rs113678046
NM_033028.4(BBS4):c.-17C>T rs56368716
NM_033028.4(BBS4):c.-38C>A rs11637927
NM_033028.4(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.4(BBS4):c.1140G>A (p.Val380=) rs141511580
NM_033028.4(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.4(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.4(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.4(BBS4):c.1451-45T>C rs75847960
NM_033028.4(BBS4):c.157-2A>G rs113994192
NM_033028.4(BBS4):c.220+1G>C rs113994190
NM_033028.4(BBS4):c.24+8C>T rs200055760
NM_033028.4(BBS4):c.712-1G>A rs377031435
NM_033028.4(BBS4):c.77-220delA rs113994189
NM_144596.3(TTC8):c.-25G>A rs7145692
NM_144596.3(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.3(TTC8):c.1432-12T>C rs79747892
NM_144596.3(TTC8):c.284A>G (p.Lys95Arg) rs150880478
NM_144596.3(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152384.2(BBS5):c.584A>G (p.Asp195Gly) rs143191074
NM_152618.2(BBS12):c.1055A>C (p.Gln352Pro)
NM_152618.2(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.2(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs) rs587777803
NM_152618.2(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.2(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.2(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.2(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757
NM_152618.2(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.2(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.2(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.2(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.2(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.2(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.2(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152618.2(BBS12):c.378G>T (p.Glu126Asp) rs309369
NM_152618.2(BBS12):c.51A>G (p.Gln17=) rs17006077
NM_152618.2(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_170784.2(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_170784.2(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_176824.2(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_176824.2(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.2(BBS7):c.1512-7A>T rs115987385
NM_176824.2(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_198309.3(TTC8):c.1434G>C (p.Ala478=) rs142073418
NM_198309.3(TTC8):c.459G>A (p.Thr153=) rs119103286
NM_198428.2(BBS9):c.1017-6T>C rs61756571
NM_198428.2(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.2(BBS9):c.1110C>T (p.Asn370=) rs61753524
NM_198428.2(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.2(BBS9):c.1275+13G>T rs11981364
NM_198428.2(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.2(BBS9):c.1284C>T (p.Thr428=) rs6964382
NM_198428.2(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.2(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.2(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.2(BBS9):c.1694-6T>C rs28622379
NM_198428.2(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.2(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.2(BBS9):c.2105C>A (p.Thr702Asn) rs149362446
NM_198428.2(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.2(BBS9):c.2336T>A (p.Leu779Gln) rs142434516
NM_198428.2(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.2(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.2(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.2(BBS9):c.555C>T (p.Ala185=) rs35440033

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