ClinVar Miner

Variants in gene DNAI2 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
113 15 1 8 13 0 0 21

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 5 9
likely benign 0 0 5 0 7
benign 0 0 9 7 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=) rs34392071
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=) rs59499600
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=) rs2279122
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn) rs117932646
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589
NM_023036.6(DNAI2):c.234G>A (p.Glu78=) rs35985071
NM_023036.6(DNAI2):c.468-4G>T rs146462823
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010
NM_023036.6(DNAI2):c.747C>T (p.Gly249=) rs148488355
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154
NM_023036.6(DNAI2):c.759G>A (p.Ala253=) rs142656395
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter) rs137852998
NM_023036.6(DNAI2):c.834C>T (p.Thr278=) rs34159194
NM_023036.6(DNAI2):c.865-5A>G rs8076337
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr) rs145798624

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