ClinVar Miner

Variants in gene MPV17 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
91 12 8 10 4 0 5 23

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 8 9 3 0 0
likely pathogenic 9 0 2 0 0
uncertain significance 3 2 0 4 0
likely benign 0 0 4 0 1
benign 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907
NM_002437.5(MPV17):c.186+2T>C rs147952488
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261
NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) rs267607262
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002437.5(MPV17):c.498C>A (p.Asn166Lys) rs121909722
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) rs267607260
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725

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