ClinVar Miner

Variants with conflicting interpretations studied for Jeune thoracic dystrophy

Coded as:
Minimum review status of the submission for Jeune thoracic dystrophy: Y axis collection method of the submission for Jeune thoracic dystrophy:
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
168 254 1 67 36 0 28 124

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
Jeune thoracic dystrophy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 12 17 1 1
likely pathogenic 3 0 2 0 0
uncertain significance 12 6 0 17 22
likely benign 1 0 7 0 39
benign 1 0 12 31 0

Condition to condition summary #

Total conditions: 22
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 30 0 50 28 0 3 78
not provided 0 37 0 16 14 0 14 40
Jeune thoracic dystrophy 498 10 0 18 13 0 7 38
Short Rib Polydactyly Syndrome 0 134 0 14 11 0 2 27
Jeune thoracic dystrophy; Nephronophthisis 0 4 0 8 5 0 0 13
Short-rib thoracic dysplasia 3 with or without polydactyly 0 4 0 3 0 0 3 6
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 0 2 0 3 2 0 0 5
Short-rib polydactyly syndrome type III 0 10 0 1 0 0 4 5
Chondroectodermal dysplasia 0 0 0 1 0 0 1 2
DYNC2H1-Related Disorders 0 0 0 1 0 0 1 2
Type IV short rib polydactyly syndrome 0 0 0 0 0 0 2 2
Clinodactyly of the 5th finger; Anomalous origin of coronary artery from the pulmonary artery; Cough 0 0 0 0 1 0 1 1
Cranioectodermal dysplasia 2 0 0 1 0 0 0 0 1
Joubert syndrome 0 78 0 0 0 0 1 1
Narrow chest; Intrauterine growth retardation; Bowing of the long bones 0 0 0 1 0 0 0 1
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 2 0 1 0 0 0 1
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY 0 0 0 1 0 0 0 1
Short rib polydactyly syndrome 5 0 0 0 1 0 0 0 1
Short rib-polydactyly syndrome, Majewski type 0 1 0 0 0 0 1 1
Short-rib polydactyly syndrome type I 0 0 0 0 0 0 1 1
WDR19-Related Disorders 0 0 0 0 0 0 1 1
WDR35-Related Disorders 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 124
Download table as spreadsheet
HGVS dbSNP
NM_001006657.1(WDR35):c.1922T>G (p.Leu641Ter) rs199952377
NM_001006657.1(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_001080463.1(DYNC2H1):c.10064-7T>A rs376067770
NM_001080463.1(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182
NM_001080463.1(DYNC2H1):c.10343T>C (p.Leu3448Pro) rs771487311
NM_001080463.1(DYNC2H1):c.10482A>G (p.Gln3494=) rs75143468
NM_001080463.1(DYNC2H1):c.10500C>G (p.Leu3500=) rs151056947
NM_001080463.1(DYNC2H1):c.10594C>T (p.Arg3532Ter) rs181011657
NM_001080463.1(DYNC2H1):c.10855G>C (p.Asp3619His) rs116872934
NM_001080463.1(DYNC2H1):c.10866G>A (p.Pro3622=) rs187451323
NM_001080463.1(DYNC2H1):c.10885C>A (p.Arg3629=) rs117178504
NM_001080463.1(DYNC2H1):c.11259C>T (p.Ser3753=) rs78599571
NM_001080463.1(DYNC2H1):c.11284A>G (p.Met3762Val) rs137853026
NM_001080463.1(DYNC2H1):c.11724C>T (p.Asn3908=) rs144624858
NM_001080463.1(DYNC2H1):c.11747-10A>T rs185916947
NM_001080463.1(DYNC2H1):c.12028G>A (p.Ala4010Thr) rs61737514
NM_001080463.1(DYNC2H1):c.12275G>A (p.Arg4092His) rs115480556
NM_001080463.1(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435
NM_001080463.1(DYNC2H1):c.12431C>G (p.Pro4144Arg) rs761765709
NM_001080463.1(DYNC2H1):c.12460C>T (p.Arg4154Cys) rs755441612
NM_001080463.1(DYNC2H1):c.12478-6C>T rs11225812
NM_001080463.1(DYNC2H1):c.12664A>C (p.Ile4222Leu) rs142920070
NM_001080463.1(DYNC2H1):c.12886G>C (p.Gly4296Arg) rs144717489
NM_001080463.1(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001080463.1(DYNC2H1):c.1540C>T (p.Arg514Ter)
NM_001080463.1(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001080463.1(DYNC2H1):c.195+7T>C rs112718117
NM_001080463.1(DYNC2H1):c.2040dup (p.Ala681Cysfs) rs1555042801
NM_001080463.1(DYNC2H1):c.21C>T (p.Asp7=) rs17301028
NM_001080463.1(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
NM_001080463.1(DYNC2H1):c.27G>T (p.Arg9=) rs113537035
NM_001080463.1(DYNC2H1):c.2818+13T>C rs150786504
NM_001080463.1(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001080463.1(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001080463.1(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509
NM_001080463.1(DYNC2H1):c.3097-4A>G rs368802969
NM_001080463.1(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720
NM_001080463.1(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001080463.1(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062
NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001080463.1(DYNC2H1):c.3735C>T (p.Ala1245=) rs377584612
NM_001080463.1(DYNC2H1):c.3744+9C>T rs142483417
NM_001080463.1(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750
NM_001080463.1(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001080463.1(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941
NM_001080463.1(DYNC2H1):c.4162_4170dup (p.Thr1390_Leu1391insValThrThr) rs1555051720
NM_001080463.1(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001080463.1(DYNC2H1):c.5558+4A>G rs11225578
NM_001080463.1(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294
NM_001080463.1(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001080463.1(DYNC2H1):c.624_625delGTinsAA (p.Phe209Ile) rs431905498
NM_001080463.1(DYNC2H1):c.645A>G (p.Leu215=) rs116666272
NM_001080463.1(DYNC2H1):c.6478-6C>T rs114254215
NM_001080463.1(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
NM_001080463.1(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001080463.1(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001080463.1(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340
NM_001080463.1(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613
NM_001080463.1(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
NM_001080463.1(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005
NM_001080463.1(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001080463.1(DYNC2H1):c.7540+14G>A rs115273161
NM_001080463.1(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443
NM_001080463.1(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001080463.1(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001080463.1(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001080463.1(DYNC2H1):c.9231+12G>A rs369045696
NM_001080463.1(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001080463.1(DYNC2H1):c.9353+7G>A rs78309870
NM_001080463.1(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001080463.1(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001080463.1(DYNC2H1):c.9886G>C (p.Glu3296Gln) rs200326353
NM_001080463.1(DYNC2H1):c.9960T>C (p.Ala3320=) rs192003811
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001143779.1(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_002296.3(LBR):c.1535G>A (p.Arg512Gln) rs754049402
NM_014714.3(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_015531.5(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399
NM_018051.4(WDR60):c.1777C>T (p.Arg593Trp) rs776300442
NM_020800.2(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
NM_020800.2(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.2(IFT80):c.1926+13T>C rs3737214
NM_020800.2(IFT80):c.2224-10delT rs58665245
NM_020800.2(IFT80):c.2224-10dupT rs58665245
NM_020800.2(IFT80):c.371-10C>A rs188321058
NM_020800.2(IFT80):c.462G>A (p.Ala154=) rs34182424
NM_020800.2(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020800.2(IFT80):c.897G>A (p.Val299=) rs145776235
NM_024753.4(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024753.4(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649
NM_024753.4(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900
NM_024753.4(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538
NM_024753.4(TTC21B):c.1650A>G (p.Glu550=) rs145926679
NM_024753.4(TTC21B):c.1695C>T (p.Tyr565=) rs6750044
NM_024753.4(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507
NM_024753.4(TTC21B):c.1870A>G (p.Ile624Val) rs77106136
NM_024753.4(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_024753.4(TTC21B):c.2175T>C (p.Phe725=) rs10176588
NM_024753.4(TTC21B):c.2211+13A>G rs73969727
NM_024753.4(TTC21B):c.2334C>T (p.Tyr778=) rs79656636
NM_024753.4(TTC21B):c.2385G>C (p.Leu795=) rs80225158
NM_024753.4(TTC21B):c.2569-5dupT rs144600502
NM_024753.4(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.4(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.4(TTC21B):c.601G>A (p.Val201Met) rs1432273
NM_024753.4(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.4(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024753.4(TTC21B):c.826A>G (p.Thr276Ala) rs7592429
NM_024753.4(TTC21B):c.838A>G (p.Met280Val) rs112868646
NM_025132.3(WDR19):c.-9A>G rs60800612
NM_025132.3(WDR19):c.1198C>T (p.Leu400=) rs199765304
NM_025132.3(WDR19):c.1357-10T>C rs16995189
NM_025132.3(WDR19):c.1595T>C (p.Ile532Thr) rs749672769
NM_025132.3(WDR19):c.2361C>T (p.Phe787=) rs200133722
NM_025132.3(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086
NM_025132.3(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209
NM_025132.3(WDR19):c.852A>G (p.Ser284=) rs17584431
NM_025132.3(WDR19):c.910G>A (p.Val304Ile) rs75964850
NM_025132.4(WDR19):c.781dup (p.Thr261Asnfs) rs748656635
NM_052844.3(WDR34):c.1177G>A (p.Gly393Ser) rs587777096
NM_147127.4(EVC2):c.3360+1G>A rs1553815019
NM_147127.4(EVC2):c.619G>T (p.Asp207Tyr) rs761707323

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