ClinVar Miner

Variants in gene PCCA 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
111 15 2 20 7 0 5 30

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 11 2 1 1
likely pathogenic 11 0 3 1 0
uncertain significance 2 3 0 7 1
likely benign 1 1 7 0 9
benign 1 0 1 9 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000282.3(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.3(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.3(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.3(PCCA):c.1284+1G>A rs752761437
NM_000282.3(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.3(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.3(PCCA):c.1429+7A>G rs16957276
NM_000282.3(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.3(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.3(PCCA):c.1747-1G>C rs879253803
NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.3(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.3(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.3(PCCA):c.2040+11dupT rs779884567
NM_000282.3(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.3(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.3(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.3(PCCA):c.231+15C>T rs202049874
NM_000282.3(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.3(PCCA):c.300+20G>T rs371217257
NM_000282.3(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.3(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.3(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.3(PCCA):c.722delG (p.Gly241Valfs) rs745571507
NM_000282.3(PCCA):c.775_779delCTAAT (p.Leu259Argfs) rs794726976
NM_000282.3(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.3(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.3(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.3(PCCA):c.937C>T (p.Arg313Ter) rs138149179

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