ClinVar Miner

Variants with conflicting interpretations studied for Neuronal ceroid lipofuscinosis

Coded as:
Minimum review status of the submission for Neuronal ceroid lipofuscinosis: Y axis collection method of the submission for Neuronal ceroid lipofuscinosis:
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
186 123 8 96 63 0 10 144

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
Neuronal ceroid lipofuscinosis pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 6 18 1 0 0
likely pathogenic 1 2 0 0 0
uncertain significance 2 5 0 10 3
likely benign 0 0 25 0 24
benign 1 1 25 54 0

Condition to condition summary #

Total conditions: 18
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 42 0 69 19 0 0 85
not provided 0 104 0 18 29 0 3 49
Seizures 0 64 0 17 12 0 0 29
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 8 0 7 15 0 0 22
Neuronal Ceroid-Lipofuscinosis, Recessive 0 6 0 6 10 0 0 16
Ceroid lipofuscinosis neuronal 5 0 1 2 7 1 0 1 11
Ceroid lipofuscinosis neuronal 2 0 8 2 3 1 0 1 7
Ceroid lipofuscinosis neuronal 1 0 0 3 4 0 0 0 6
Ceroid lipofuscinosis neuronal 10 0 2 0 5 0 0 0 5
Ceroid lipofuscinosis neuronal 8 0 1 0 1 2 0 2 5
Juvenile neuronal ceroid lipofuscinosis 0 2 1 3 0 0 1 5
Ceroid lipofuscinosis neuronal 6 0 6 0 1 1 0 1 3
Ceroid lipofuscinosis neuronal 6; Adult neuronal ceroid lipofuscinosis 0 2 0 0 2 0 0 2
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant; Ceroid lipofuscinosis neuronal 8 0 0 0 0 2 0 0 2
Inborn genetic diseases 0 6 0 0 0 0 2 2
History of neurodevelopmental disorder 0 1 0 0 1 0 0 1
Neuronal ceroid lipofuscinosis 448 4 0 1 0 0 0 1
Retinitis pigmentosa 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 144
Download table as spreadsheet
HGVS dbSNP
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.169dupA (p.Met57Asnfs) rs386833634
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.3(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.3(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.3(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.3(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.3(TPP1):c.1266+5G>A rs1800753
NM_000391.3(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.3(TPP1):c.1426-10A>G rs200965587
NM_000391.3(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.3(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000391.3(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.3(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.3(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.3(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.3(TPP1):c.688-7T>A rs375262484
NM_000391.3(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.3(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.3(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_001042432.1(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_001042432.1(CLN3):c.1197+8T>C rs587780895
NM_001042432.1(CLN3):c.1209G>A (p.Glu403=) rs377369610
NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_001042432.1(CLN3):c.125+3G>A rs775577824
NM_001042432.1(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_001042432.1(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_001042432.1(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_001042432.1(CLN3):c.309G>A (p.Ala103=) rs774996613
NM_001042432.1(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_001042432.1(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_001042432.1(CLN3):c.327C>T (p.Leu109=) rs748293490
NM_001042432.1(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_001042432.1(CLN3):c.47-1G>A rs1555469477
NM_001042432.1(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) rs386833736
NM_001042432.1(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) rs386833740
NM_001042432.1(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_001909.4(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.4(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.4(CTSD):c.1071+7G>A rs374010531
NM_001909.4(CTSD):c.1072-7G>A rs149019571
NM_001909.4(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.4(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.4(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.4(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.4(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.4(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.4(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.4(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.4(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.4(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.4(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.4(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.4(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.4(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.4(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.4(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.4(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.4(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.4(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001909.4(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.4(CTSD):c.972+9C>T rs746243061
NM_006493.2(CLN5):c.1103_1106delAACA (p.Lys368Serfs) rs386833967
NM_006493.2(CLN5):c.1175_1176delAT (p.Tyr392Terfs) rs386833969
NM_006493.2(CLN5):c.1188T>C (p.Pro396=) rs36038805
NM_006493.2(CLN5):c.152C>T (p.Ala51Val) rs146993892
NM_006493.2(CLN5):c.225G>A (p.Trp75Ter) rs104894385
NM_006493.2(CLN5):c.234C>G (p.Ala78=) rs138037471
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.335G>A (p.Arg112His) rs104894386
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.2(CLN5):c.528T>G (p.Thr176=) rs34481987
NM_006493.2(CLN5):c.595C>T (p.Arg199Ter) rs546989392
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006493.2(CLN5):c.669dupC (p.Trp224Leufs) rs386833979
NM_006493.2(CLN5):c.789A>T (p.Val263=) rs751496223
NM_006493.2(CLN5):c.852G>A (p.Val284=) rs116531784
NM_006493.2(CLN5):c.924_925delAT (p.Phe309Serfs) rs786204644
NM_006493.3(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.3(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_017882.2(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.2(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.2(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.2(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.2(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.2(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.2(CLN6):c.298-6C>T rs117038427
NM_017882.2(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.2(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.2(CLN6):c.486+8C>T rs149692285
NM_017882.2(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.2(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.2(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.2(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.2(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.2(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.2(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017882.2(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.207G>A (p.Thr69=) rs368365607
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.246G>A (p.Leu82=) rs144015378
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018941.3(CLN8):c.290G>A (p.Arg97His) rs116605307
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018941.3(CLN8):c.703delC (p.Val236Serfs) rs761621368
NM_018941.3(CLN8):c.725C>T (p.Thr242Met) rs138821993
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_025219.2(DNAJC5):c.107+10C>T rs181906972
NM_025219.2(DNAJC5):c.132C>T (p.Pro44=) rs140948457
NM_025219.2(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.2(DNAJC5):c.282C>T (p.Asn94=) rs113207069
NM_025219.2(DNAJC5):c.339C>T (p.Cys113=) rs886043295
NM_025219.2(DNAJC5):c.419C>T (p.Ala140Val) rs144915847
NM_025219.2(DNAJC5):c.456C>T (p.Pro152=) rs140326040
NM_025219.2(DNAJC5):c.45A>G (p.Ser15=) rs144141585
NM_025219.2(DNAJC5):c.504C>T (p.Asp168=) rs886056935
NM_025219.2(DNAJC5):c.75C>T (p.Asn25=) rs189308547

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