ClinVar Miner

Variants in gene PKD1 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 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
654 105 0 48 4 0 6 57

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 10 1 1 1
likely pathogenic 10 0 4 0 0
uncertain significance 1 4 0 3 1
likely benign 1 0 3 0 38
benign 1 0 1 38 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_000296.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_000296.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_000296.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_000296.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_000296.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_000296.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_000296.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_000296.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_000296.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_000296.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_000296.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.2(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.2(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.2(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.2(PKD1):c.12139-5C>T rs146430229
NM_001009944.2(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.2(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.2(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.2(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.2(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.2(PKD1):c.182C>T (p.Pro61Leu) rs886038369
NM_001009944.2(PKD1):c.214C>T (p.Leu72=) rs972113626
NM_001009944.2(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.2(PKD1):c.2655C>T (p.Cys885=) rs142606648
NM_001009944.2(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.2(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.2(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.2(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.2(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.2(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275
NM_001009944.2(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.2(PKD1):c.5682C>T (p.Ala1894=) rs144634185
NM_001009944.2(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.2(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.2(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.2(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.2(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.2(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.2(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.2(PKD1):c.7327G>T (p.Gly2443Ter)
NM_001009944.2(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361
NM_001009944.2(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.2(PKD1):c.7863+13T>C rs115024665
NM_001009944.2(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.2(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.2(PKD1):c.8161+8G>A rs199569003
NM_001009944.2(PKD1):c.8298C>T (p.Ser2766=) rs145850037
NM_001009944.2(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.2(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.2(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043
NM_001009944.2(PKD1):c.8545delG (p.Ala2849Profs) rs1555451093
NM_001009944.2(PKD1):c.9270C>T (p.Val3090=) rs149056734
NM_001009944.2(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001009944.2(PKD1):c.9957C>T (p.Ser3319=) rs141101590
NM_001009944.3(PKD1):c.12003+14_12003+33del
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)

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