ClinVar Miner

Variants in gene PKHD1 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
998 141 1 117 115 1 39 253

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 protective
pathogenic 0 58 11 0 0 1
likely pathogenic 58 0 33 3 1 1
uncertain significance 11 33 1 98 28 0
likely benign 0 3 98 0 59 0
benign 0 1 28 59 0 0
protective 1 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 253
Download table as spreadsheet
HGVS dbSNP
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) rs114237522
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=) rs199564783
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1234-10T>A rs4715272
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1234-5C>T rs116124750
NM_138694.4(PKHD1):c.1234-9T>C rs200707468
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666
NM_138694.4(PKHD1):c.130+9G>A rs367608402
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1737G>A (p.Thr579=) rs765871629
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=) rs142922408
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202
NM_138694.4(PKHD1):c.1964+17G>T rs201349527
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2279+13T>G rs188914598
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.2280-10C>T rs749295454
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980
NM_138694.4(PKHD1):c.2715+7del rs551015414
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=) rs138350291
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3628+9C>A rs552339299
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=) rs147584295
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met) rs147529495
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=) rs140674740
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=) rs571966529
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=) rs200864129
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=) rs535128714
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=) rs755566688
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.5752-9G>A rs184441390
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130
NM_138694.4(PKHD1):c.5877_5878CA[1] (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp) rs750190287
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.4(PKHD1):c.6795T>C (p.His2265=) rs186227053
NM_138694.4(PKHD1):c.6809-2A>T
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909
NM_138694.4(PKHD1):c.707+1G>A rs748365248
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483
NM_138694.4(PKHD1):c.7110-7T>A rs113034899
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=) rs200807210
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591
NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=) rs373409786
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.7734-6C>A rs367564272
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417
NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=) rs146083613
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912
NM_138694.4(PKHD1):c.8107+8T>G rs368339881
NM_138694.4(PKHD1):c.8173+12C>T rs368093611
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759
NM_138694.4(PKHD1):c.8440+10G>C rs376658460
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.8648_8650TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=) rs201670044
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.