ClinVar Miner

Variants in gene TPP1 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
208 48 2 34 17 0 5 51

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 14 2 0 0
likely pathogenic 14 0 3 1 1
uncertain significance 2 3 0 15 7
likely benign 0 1 15 0 20
benign 0 1 7 20 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.3(TPP1):c.-40T>C rs200184958
NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.3(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.3(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.3(TPP1):c.1058C>A (p.Thr353Asn) rs145966505
NM_000391.3(TPP1):c.1076-18A>G rs78676565
NM_000391.3(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.3(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.3(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.3(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.3(TPP1):c.1266+5G>A rs1800753
NM_000391.3(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.3(TPP1):c.1426-10A>G rs200965587
NM_000391.3(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.3(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000391.3(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.3(TPP1):c.1551+1G>A rs786204553
NM_000391.3(TPP1):c.1552-9C>T rs369699167
NM_000391.3(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.3(TPP1):c.229G>C (p.Gly77Arg) rs121908195
NM_000391.3(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.3(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.3(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000391.3(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.509-1G>T rs56144125
NM_000391.3(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.3(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.3(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.3(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.3(TPP1):c.687+2T>G rs1057516945
NM_000391.3(TPP1):c.688-18C>T rs376868997
NM_000391.3(TPP1):c.688-7T>A rs375262484
NM_000391.3(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.3(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.3(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000391.3(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.3(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.3(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.3(TPP1):c.887-10A>G rs755445790
NM_000391.3(TPP1):c.887-18A>G rs935526225
NM_000391.3(TPP1):c.887-6delA rs35039601
NM_000391.3(TPP1):c.938_939delAT (p.Asn313Argfs) rs886041487

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