ClinVar Miner

Variants in gene JPH2 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
162 42 0 12 11 0 2 22

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 2 0 0
uncertain significance 2 0 8 6
likely benign 0 8 0 12
benign 0 6 12 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_020433.4(JPH2):c.1015G>A (p.Gly339Ser) rs368290474
NM_020433.4(JPH2):c.1107T>C (p.Ser369=) rs148311735
NM_020433.4(JPH2):c.1137C>A (p.Ile379=) rs143158930
NM_020433.4(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.4(JPH2):c.128A>G (p.Asn43Ser) rs138992849
NM_020433.4(JPH2):c.1380G>A (p.Ala460=) rs531877510
NM_020433.4(JPH2):c.1424G>A (p.Arg475His) rs765754956
NM_020433.4(JPH2):c.1513G>A (p.Gly505Ser) rs140740776
NM_020433.4(JPH2):c.1704C>T (p.Ser568=) rs200892606
NM_020433.4(JPH2):c.1794C>A (p.Ser598=) rs369883442
NM_020433.4(JPH2):c.1852A>G (p.Thr618Ala) rs376612687
NM_020433.4(JPH2):c.1971G>A (p.Glu657=) rs142333841
NM_020433.4(JPH2):c.380-6C>T rs201197277
NM_020433.4(JPH2):c.380-9C>G rs111987307
NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_020433.4(JPH2):c.562C>T (p.Pro188Ser) rs574746149
NM_020433.4(JPH2):c.572C>G (p.Pro191Arg) rs554853074
NM_020433.4(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020433.4(JPH2):c.637C>T (p.Arg213Trp) rs767328866
NM_020433.4(JPH2):c.642G>A (p.Ala214=) rs587780956
NM_020433.4(JPH2):c.648G>A (p.Lys216=) rs796219248
NM_020433.4(JPH2):c.661T>C (p.Phe221Leu) rs558770240

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