ClinVar Miner

Variants in gene CLN8 with conflicting interpretations

See also:
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
112 18 3 12 9 0 6 27

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 1 5 1 0 0
likely pathogenic 5 2 4 1 0
uncertain significance 1 4 0 8 3
likely benign 0 1 8 0 7
benign 0 0 3 7 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
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.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.3(CLN8):c.513C>G (p.Pro171=) rs376910635
NM_018941.3(CLN8):c.522C>T (p.Cys174=) rs148417620
NM_018941.3(CLN8):c.546G>A (p.Ala182=) rs144047076
NM_018941.3(CLN8):c.562_563delCT rs386834132
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.648C>T (p.Phe216=) rs564074916
NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) rs386834136
NM_018941.3(CLN8):c.66delG (p.Ile23Serfs) rs34238807
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018941.3(CLN8):c.703delC (p.Val236Serfs) rs761621368
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
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_018941.3(CLN8):c.88delG (p.Ala30Leufs) rs386834139

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.