ClinVar Miner

Variants in gene NPHS2 with conflicting interpretations

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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 per condition Variants with at least 2 submissions on the same condition 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 conflict
105 9 0 13 2 2 5 18

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 drug response risk factor
pathogenic 0 7 4 0 1 0 1
likely pathogenic 7 0 1 0 1 0 0
uncertain significance 4 1 0 0 2 1 1
likely benign 0 0 0 0 6 0 0
benign 1 1 2 6 0 0 0
drug response 0 0 1 0 0 0 0
risk factor 1 0 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
NM_014625.3(NPHS2):c.-51G>T rs12406197
NM_014625.3(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.3(NPHS2):c.182C>T (p.Ala61Val) rs201050491
NM_014625.3(NPHS2):c.288C>T (p.Ser96=) rs3738423
NM_014625.3(NPHS2):c.304G>A (p.Glu102Lys) rs1553315157
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.3(NPHS2):c.451+2T>A rs786204708
NM_014625.3(NPHS2):c.451+3dup rs542240453
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.3(NPHS2):c.503G>A (p.Arg168His) rs530318579
NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) rs778055996
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.709G>C (p.Glu237Gln) rs146906190
NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) rs748812981
NM_014625.3(NPHS2):c.725C>T (p.Ala242Val) rs61747727
NM_014625.3(NPHS2):c.87C>G (p.Ala29=) rs12123397

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