ClinVar Miner

Variants in gene IQSEC2 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
215 22 0 11 16 0 3 30

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 0 3 2 0 0
likely pathogenic 3 0 0 0 1
uncertain significance 2 0 0 13 3
likely benign 0 0 13 0 8
benign 0 1 3 8 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) rs200629644
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) rs192071369
NM_001111125.3(IQSEC2):c.2459+3G>A rs1204856744
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629
NM_001111125.3(IQSEC2):c.3717_3719CCA[6] (p.His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr) rs1057521942
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) rs782713602

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