ClinVar Miner

Variants in gene NAGLU 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
135 16 0 15 4 0 5 23

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 0 13 3 0 0
likely pathogenic 13 0 3 0 0
uncertain significance 3 3 0 2 2
likely benign 0 0 2 0 2
benign 0 0 2 2 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000263.3(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.3(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.3(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.3(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.3(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.3(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.3(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.3(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.3(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.3(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.3(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.3(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.3(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.3(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.3(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.3(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.3(NAGLU):c.383+1G>T rs727504028
NM_000263.3(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.3(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.3(NAGLU):c.764+19C>G rs77738617
NM_000263.3(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052
NM_000263.3(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.3(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595

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