ClinVar Miner

Variants in gene PKD2 with conflicting interpretations

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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
700 46 0 26 6 0 5 35

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 13 0 0 0
likely pathogenic 13 0 5 0 0
uncertain significance 0 5 0 4 3
likely benign 0 0 4 0 13
benign 0 0 3 13 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) rs555242193 0.00017
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000297.4(PKD2):c.1549-4T>C rs374450718 0.00007
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) rs749666891
NM_000297.4(PKD2):c.596-59A>G
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867

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