ClinVar Miner

Variants in gene PMM2 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 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
254 23 10 41 10 0 13 66

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 10 37 6 0 0
likely pathogenic 37 0 11 0 0
uncertain significance 6 11 0 8 3
likely benign 0 0 8 0 4
benign 0 0 3 4 0

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.1A>G (p.Met1Val) rs786204591
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter) rs1057516886
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808
NM_000303.3(PMM2):c.639+10G>A rs200593954
NM_000303.3(PMM2):c.640-15479C>T rs1258107584
NM_000303.3(PMM2):c.640-9T>G rs370160676
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.66+1G>T rs937726878
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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