ClinVar Miner

Variants with conflicting interpretations studied for Nemaline myopathy 2

Coded as:
Minimum review status of the submission for Nemaline myopathy 2: Y axis collection method of the submission for Nemaline myopathy 2:
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
748 132 1 142 125 0 10 244

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
Nemaline myopathy 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 22 4 0 0
likely pathogenic 21 0 4 0 0
uncertain significance 3 5 0 45 2
likely benign 0 0 39 0 11
benign 0 0 42 102 0

Condition to condition summary #

Total conditions: 10
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 75 0 102 56 0 0 156
Nemaline Myopathy, Recessive 0 28 0 34 54 0 0 88
not provided 0 95 0 21 37 0 4 61
Nemaline myopathy 2 1079 22 1 14 2 0 6 23
Nemaline myopathy 0 8 0 7 0 0 0 7
Inborn genetic diseases 0 4 0 2 1 0 0 3
Congenital muscular dystrophy; Muscle weakness 0 0 0 0 1 0 0 1
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 1 0 1 0 0 0 1
Nemaline myopathy 2, autosomal recessive 0 0 0 0 0 0 1 1
Non-immune hydrops fetalis 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 244
Download table as spreadsheet
HGVS dbSNP
NM_001164507.1(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.1(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.1(NEB):c.10269G>A (p.Pro3423=) rs368719373
NM_001271208.1(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.1(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.1(NEB):c.10347+6C>T rs141088433
NM_001271208.1(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.1(NEB):c.10452+9A>G rs117270796
NM_001271208.1(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.1(NEB):c.11077-4G>T rs878924060
NM_001271208.1(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.1(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.1(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.1(NEB):c.11806-7C>A rs779713133
NM_001271208.1(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.1(NEB):c.12147G>A (p.Lys4049=) rs149639365
NM_001271208.1(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001271208.1(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305
NM_001271208.1(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.1(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001271208.1(NEB):c.12905A>T (p.Asn4302Ile) rs886038429
NM_001271208.1(NEB):c.13078C>G (p.Leu4360Val) rs761799512
NM_001271208.1(NEB):c.13081G>A (p.Glu4361Lys) rs202017360
NM_001271208.1(NEB):c.13368+6A>G rs886038433
NM_001271208.1(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001271208.1(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001271208.1(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.1(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001271208.1(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.1(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001271208.1(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001271208.1(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.1(NEB):c.1470C>T (p.Asp490=) rs778189876
NM_001271208.1(NEB):c.153_167dupTCTGGCACAGCCAGC (p.Ala61_Ser62insLeuAlaGlnProAla) rs757726895
NM_001271208.1(NEB):c.1570-2A>G rs1553603958
NM_001271208.1(NEB):c.16788C>T (p.Asn5596=) rs186902443
NM_001271208.1(NEB):c.16875C>T (p.Val5625=) rs757882235
NM_001271208.1(NEB):c.169_183dupCTGGCACAGCCAGCA (p.Ala61_Ser62insLeuAlaGlnProAla) rs377452683
NM_001271208.1(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.1(NEB):c.17304G>A (p.Leu5768=) rs35273905
NM_001271208.1(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.1(NEB):c.17510A>G (p.Lys5837Arg) rs201962649
NM_001271208.1(NEB):c.17838G>A (p.Gln5946=) rs376199241
NM_001271208.1(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.1(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.1(NEB):c.18783G>A (p.Gln6261=) rs148095660
NM_001271208.1(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.1(NEB):c.19219G>A (p.Glu6407Lys) rs144539316
NM_001271208.1(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.1(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.1(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.1(NEB):c.19665T>C (p.Ile6555=) rs150842230
NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.1(NEB):c.20466+7G>A rs201684605
NM_001271208.1(NEB):c.20671C>T (p.Leu6891Phe) rs182866658
NM_001271208.1(NEB):c.21173C>T (p.Thr7058Ile) rs200523155
NM_001271208.1(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.1(NEB):c.21596G>A (p.Arg7199His) rs16830171
NM_001271208.1(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.1(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.1(NEB):c.2211+5G>A rs797045736
NM_001271208.1(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.1(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.1(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.1(NEB):c.22695+2T>C rs200449517
NM_001271208.1(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.1(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.1(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.1(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.1(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.1(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.1(NEB):c.23483delT (p.Met7828Serfs) rs1553603690
NM_001271208.1(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.1(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.1(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.1(NEB):c.24072_24075delACCT (p.Pro8025Serfs) rs756384471
NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.1(NEB):c.24129_24133dup (p.Tyr8045Cysfs) rs772009599
NM_001271208.1(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.1(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.1(NEB):c.2416-6G>T rs185433570
NM_001271208.1(NEB):c.24161C>T (p.Pro8054Leu) rs189655274
NM_001271208.1(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.1(NEB):c.24219+1G>A rs755239192
NM_001271208.1(NEB):c.24313-7C>T rs113048349
NM_001271208.1(NEB):c.24314_24317dup (p.Leu8106Phefs) rs781667543
NM_001271208.1(NEB):c.24369G>A (p.Met8123Ile) rs144709880
NM_001271208.1(NEB):c.24444_24447delACCT (p.Pro8149Serfs) rs934111355
NM_001271208.1(NEB):c.24468_24469delAG (p.Arg8156Serfs) rs752582527
NM_001271208.1(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.1(NEB):c.24770_24771delTT (p.Phe8257Terfs) rs794727136
NM_001271208.1(NEB):c.24771delT (p.Phe8257Leufs) rs794727136
NM_001271208.1(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.1(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.1(NEB):c.25319delG (p.Gly8440Valfs) rs1553520266
NM_001271208.1(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.1(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.1(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.1(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.1(NEB):c.2604G>T (p.Leu868=) rs201698008
NM_001271208.1(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.1(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.1(NEB):c.294+2T>C rs773952935
NM_001271208.1(NEB):c.3255+1G>T rs375628303
NM_001271208.1(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.1(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.1(NEB):c.37-1G>A rs1428597732
NM_001271208.1(NEB):c.3801T>C (p.Asp1267=) rs182725059
NM_001271208.1(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.1(NEB):c.3879+8G>A rs376511134
NM_001271208.1(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.1(NEB):c.4221G>A (p.Gln1407=) rs6709752
NM_001271208.1(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.1(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.1(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.1(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.1(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.1(NEB):c.5718C>T (p.Ala1906=) rs115379999
NM_001271208.1(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.1(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.1(NEB):c.6088C>T (p.Leu2030Phe) rs200251444
NM_001271208.1(NEB):c.6166A>G (p.Arg2056Gly) rs115350357
NM_001271208.1(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.1(NEB):c.6615C>G (p.Arg2205=) rs200018782
NM_001271208.1(NEB):c.675G>A (p.Pro225=) rs138528093
NM_001271208.1(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.1(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.1(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.1(NEB):c.8031_8041delAAATAAACGAG (p.Lys2677Asnfs) rs398124172
NM_001271208.1(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.1(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.1(NEB):c.8553G>A (p.Gly2851=) rs200624735
NM_001271208.1(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.1(NEB):c.8643C>T (p.Ser2881=) rs150135749
NM_001271208.1(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.1(NEB):c.8801G>A (p.Arg2934His) rs200307392
NM_001271208.1(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
NM_001271208.1(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.1(NEB):c.9072G>A (p.Ala3024=) rs369897667
NM_001271208.1(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.1(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.1(NEB):c.9315C>A (p.Val3105=) rs371174518
NM_001271208.1(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.1(NEB):c.9354A>G (p.Thr3118=) rs187637065
NM_001271208.1(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_004543.4(NEB):c.10015G>A (p.Val3339Ile) rs139798654
NM_004543.4(NEB):c.10296G>A (p.Thr3432=) rs199789085
NM_004543.4(NEB):c.10419G>C (p.Met3473Ile) rs149025191
NM_004543.4(NEB):c.11000A>G (p.Asp3667Gly) rs35740585
NM_004543.4(NEB):c.11040T>C (p.Ile3680=) rs80320923
NM_004543.4(NEB):c.11659T>A (p.Ser3887Thr) rs35227368
NM_004543.4(NEB):c.12644A>G (p.Lys4215Arg) rs73967567
NM_004543.4(NEB):c.12C>T (p.Asp4=) rs117178114
NM_004543.4(NEB):c.13010A>G (p.Asn4337Ser) rs16830236
NM_004543.4(NEB):c.13328A>G (p.His4443Arg) rs34504204
NM_004543.4(NEB):c.13427G>A (p.Arg4476His) rs147159176
NM_004543.4(NEB):c.13452G>A (p.Lys4484=) rs145252235
NM_004543.4(NEB):c.13590G>C (p.Ala4530=) rs141338915
NM_004543.4(NEB):c.13894-10T>C rs4544436
NM_004543.4(NEB):c.13953G>T (p.Thr4651=) rs115631125
NM_004543.4(NEB):c.13999-6C>T rs145127681
NM_004543.4(NEB):c.14182_14183delGCinsAA (p.Ala4728Asn) rs796065338
NM_004543.4(NEB):c.14208C>T (p.Ser4736=) rs16830216
NM_004543.4(NEB):c.14629-6C>T rs11894996
NM_004543.4(NEB):c.14929C>T (p.Arg4977Cys) rs200239095
NM_004543.4(NEB):c.14995C>A (p.Leu4999Ile) rs202139330
NM_004543.4(NEB):c.15089A>T (p.Asp5030Val) rs2288200
NM_004543.4(NEB):c.15364-4T>A rs199791504
NM_004543.4(NEB):c.15495C>G (p.Gly5165=) rs16830192
NM_004543.4(NEB):c.15663C>T (p.Asp5221=) rs34555492
NM_004543.4(NEB):c.15941C>G (p.Ser5314Cys) rs62167164
NM_004543.4(NEB):c.16416C>T (p.Ser5472=) rs16830170
NM_004543.4(NEB):c.16443C>T (p.Asn5481=) rs149510427
NM_004543.4(NEB):c.16617C>T (p.Tyr5539=) rs34718443
NM_004543.4(NEB):c.1675-9T>G rs75118047
NM_004543.4(NEB):c.16753G>A (p.Asp5585Asn) rs35625617
NM_004543.4(NEB):c.16860A>G (p.Lys5620=) rs61730765
NM_004543.4(NEB):c.17169+7T>C rs762551492
NM_004543.4(NEB):c.17325C>T (p.Leu5775=) rs371431256
NM_004543.4(NEB):c.17775C>A (p.Ala5925=) rs185574478
NM_004543.4(NEB):c.177G>A (p.Gln59=) rs200990309
NM_004543.4(NEB):c.17910C>T (p.Ser5970=) rs370873040
NM_004543.4(NEB):c.17952G>A (p.Gly5984=) rs563896790
NM_004543.4(NEB):c.18024+2T>C rs112610938
NM_004543.4(NEB):c.18278C>T (p.Ser6093Leu) rs41270201
NM_004543.4(NEB):c.18392C>T (p.Thr6131Ile) rs34368668
NM_004543.4(NEB):c.18408G>A (p.Thr6136=) rs35808744
NM_004543.4(NEB):c.18546+10_18546+11del rs772001300
NM_004543.4(NEB):c.18952G>A (p.Ala6318Thr) rs199937246
NM_004543.4(NEB):c.19189A>G (p.Ile6397Val) rs551649582
NM_004543.4(NEB):c.19470A>G (p.Gln6490=) rs184319249
NM_004543.4(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_004543.4(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_004543.4(NEB):c.19827T>G (p.Ser6609=) rs13031275
NM_004543.4(NEB):c.19996G>A (p.Val6666Ile) rs117861109
NM_004543.4(NEB):c.2211+5G>T rs797045736
NM_004543.4(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_004543.4(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_004543.4(NEB):c.2784delT (p.Asp929Ilefs) rs786204430
NM_004543.4(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_004543.4(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_004543.4(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_004543.4(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_004543.4(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_004543.4(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_004543.4(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_004543.4(NEB):c.3775-6T>C rs80232472
NM_004543.4(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_004543.4(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_004543.4(NEB):c.3987+1G>A rs780022652
NM_004543.4(NEB):c.3987+1_3987+2delGTinsTG rs786204576
NM_004543.4(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_004543.4(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_004543.4(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_004543.4(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_004543.4(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_004543.4(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_004543.4(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_004543.4(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_004543.4(NEB):c.5763+4C>T rs78916288
NM_004543.4(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_004543.4(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_004543.4(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_004543.4(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_004543.4(NEB):c.612+8T>C rs113095802
NM_004543.4(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_004543.4(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_004543.4(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_004543.4(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_004543.4(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_004543.4(NEB):c.7432-2025_7536+372del
NM_004543.4(NEB):c.771T>C (p.Ala257=) rs4611637
NM_004543.4(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_004543.4(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_004543.4(NEB):c.8466C>T (p.His2822=) rs61730771
NM_004543.4(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_004543.4(NEB):c.863A>G (p.Lys288Arg) rs202035863
NM_004543.4(NEB):c.9136G>A (p.Gly3046Ser) rs75639119
NM_004543.4(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_004543.4(NEB):c.984C>T (p.Thr328=) rs199969138

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