ClinVar Miner

Variants in gene PPT1 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
190 13 15 19 5 0 3 35

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 2 13 0 0 0
likely pathogenic 13 13 3 0 0
uncertain significance 0 3 0 3 2
likely benign 0 0 3 0 6
benign 0 0 2 6 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000310.3(PPT1):c.114delG (p.Trp38Cysfs) rs386833625
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.169dupA (p.Met57Asnfs) rs386833634
NM_000310.3(PPT1):c.175delG (p.Glu59Argfs) rs386833635
NM_000310.3(PPT1):c.255_257delCTT (p.Phe85del) rs386833637
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) rs386833641
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.363-18C>G rs143235344
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.398delT (p.Met133Argfs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) rs796052925
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.799-19A>C rs367820578
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902

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