ClinVar Miner

Variants in gene PKD2 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
183 17 0 15 5 0 2 22

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

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
NM_000297.3(PKD2):c.1094+3_1094+6delAAGT rs1553925470
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690
NM_000297.4(PKD2):c.1548+9G>C rs376901684
NM_000297.4(PKD2):c.1549-4T>C rs374450718
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.290_292AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453

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