Variants in gene combination AXDND1, NPHS2 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: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
141	19	0	13	0	1	5	16

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	risk factor
pathogenic	0	9	3	0	0	1
likely pathogenic	9	0	4	0	0	1
uncertain significance	3	4	0	0	0	1
likely benign	0	0	0	0	4	0
benign	0	0	0	4	0	0
risk factor	1	1	1	0	0	0

All variants with conflicting interpretations #

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=)	rs3818587	0.08745
NM_014625.4(NPHS2):c.873+7A>G	rs115778946	0.03013
NM_014625.4(NPHS2):c.891G>A (p.Ala297=)	rs5005771	0.00589
NM_014625.4(NPHS2):c.873+10C>T	rs536934083	0.00019
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	rs369697947	0.00018
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	rs775006954	0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	rs200482683	0.00011
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)	rs780761368	0.00004
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	rs74315348	0.00001
NM_014625.4(NPHS2):c.873+2T>A	rs967339926	0.00001
NM_014625.4(NPHS2):c.1032del (p.Phe344fs)	rs1673229720
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	rs749740335
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)	rs1490010141
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)	rs1673254835
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)	rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)	rs776859868

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