ClinVar Miner

Variants in gene CLN3 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
210 32 10 24 14 0 7 49

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 12 0 0 0
likely pathogenic 12 8 6 1 0
uncertain significance 0 6 0 13 5
likely benign 0 1 13 0 12
benign 0 0 5 12 0

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_001042432.1(CLN3):c.*29A>G rs778438984
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.1054C>T (p.Gln352Ter) rs386833697
NM_001042432.1(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.1(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.1(CLN3):c.1197+8T>C rs587780895
NM_001042432.1(CLN3):c.1198-1G>T rs386833702
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.1211A>G (p.His404Arg) rs77595156
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.174C>T (p.Ala58=) rs138433617
NM_001042432.1(CLN3):c.233dupG (p.Thr80Asnfs) rs386833712
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.379delC (p.Arg127Glyfs) rs386833717
NM_001042432.1(CLN3):c.418G>A (p.Val140Ile) rs373034150
NM_001042432.1(CLN3):c.424delG (p.Val142Leufs) rs386833720
NM_001042432.1(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_001042432.1(CLN3):c.461-280_677+382del rs1555468634
NM_001042432.1(CLN3):c.461-280_677+383del rs1555468632
NM_001042432.1(CLN3):c.47-1G>A rs1555469477
NM_001042432.1(CLN3):c.516C>T (p.Leu172=) rs148846795
NM_001042432.1(CLN3):c.533+1G>C rs386833728
NM_001042432.1(CLN3):c.558_559delAG (p.Gly187Aspfs) rs386833729
NM_001042432.1(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.1(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.1(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.1(CLN3):c.622dupT (p.Ser208Phefs) rs386833736
NM_001042432.1(CLN3):c.677+8G>A rs368568189
NM_001042432.1(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_001042432.1(CLN3):c.790+3A>C rs386833738
NM_001042432.1(CLN3):c.831G>A (p.Val277=) rs1142183
NM_001042432.1(CLN3):c.837+5G>A rs756848924
NM_001042432.1(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.1(CLN3):c.906+2T>A rs771788391
NM_001042432.1(CLN3):c.944dupA (p.His315Glnfs) rs386833740
NM_001042432.1(CLN3):c.975G>A (p.Leu325=) rs150174473
NM_001042432.1(CLN3):c.988G>A (p.Val330Ile) rs386833744

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