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
241 129 13 46 22 0 15 87

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 9 31 2 0 0
likely pathogenic 5 4 1 0 0
uncertain significance 6 8 0 13 3
likely benign 0 0 3 0 2
benign 1 0 3 9 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 15 0 10 12 0 1 23
not provided 0 121 0 10 6 0 6 21
Ceroid lipofuscinosis neuronal 5 0 6 3 9 0 0 2 14
Juvenile neuronal ceroid lipofuscinosis 0 3 3 7 0 0 1 11
Ceroid lipofuscinosis neuronal 2 0 9 2 7 0 0 0 9
Ceroid lipofuscinosis neuronal 1 0 0 3 4 0 0 0 6
Ceroid lipofuscinosis neuronal 6 0 6 1 3 0 0 2 5
Ceroid lipofuscinosis neuronal 8 0 3 0 3 0 0 2 5
Seizures 0 33 0 2 2 0 1 5
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 9 0 2 2 0 0 4
Ceroid lipofuscinosis neuronal 10 0 2 0 1 0 0 1 2
Inborn genetic diseases 0 6 0 0 0 0 2 2
Neuronal ceroid lipofuscinosis 450 5 0 1 0 0 1 2
Retinitis pigmentosa 0 0 0 0 0 0 2 2
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 0 0 1 0 0 0 0 1
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant; Ceroid lipofuscinosis neuronal 8 0 0 0 1 0 0 0 1
History of neurodevelopmental disorder 0 1 0 0 1 0 0 1
Neuronal Ceroid-Lipofuscinosis, Recessive 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_000086.2(CLN3):c.1158C>T (p.Gly386=) rs145340637
NM_000086.2(CLN3):c.1197+8T>C rs587780895
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.125+3G>A rs775577824
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.309G>A (p.Ala103=) rs774996613
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000310.3(PPT1):c.*3C>A rs150454815
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_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.182_183TC[1] (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.89+5G>C rs746085696
NM_001142604.2(PPT1):c.125-2957dup rs386833634
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.47_52GCGCGG[3] (p.16_17GA[3]) rs1409904698
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.3(CLN6):c.791_793CCT[1] (p.Ser265del) rs768422260
NM_018941.3(CLN8):c.200C>T (p.Ala67Val) rs373957283
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
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.703del (p.Val236fs) rs761621368
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.3(CLN8):c.792C>G (p.Asn264Lys) rs587779411

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