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
880 137 1 85 35 1 22 136

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 39 6 0 0 1
likely pathogenic 39 0 17 2 1 0
uncertain significance 6 17 1 26 13 0
likely benign 0 2 26 0 46 0
benign 0 1 13 46 0 0
protective 1 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 136
Download table as spreadsheet
HGVS dbSNP
NM_138694.3(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.3(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.3(PKHD1):c.10036_10045del10 (p.Cys3346Glnfs) rs1554216571
NM_138694.3(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.3(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.3(PKHD1):c.10452dupT (p.Leu3485Serfs) rs771623148
NM_138694.3(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478
NM_138694.3(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.3(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.3(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.3(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.3(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.3(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.3(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536
NM_138694.3(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.3(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.3(PKHD1):c.1234-10T>A rs4715272
NM_138694.3(PKHD1):c.1234-10_1234-9delTTinsAC rs1554217929
NM_138694.3(PKHD1):c.1234-5C>T rs116124750
NM_138694.3(PKHD1):c.130+9G>A rs367608402
NM_138694.3(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.3(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.3(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.3(PKHD1):c.1964+17G>T rs201349527
NM_138694.3(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.3(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.3(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.3(PKHD1):c.2162C>T (p.Thr721Met) rs140608845
NM_138694.3(PKHD1):c.2194G>T (p.Val732Phe) rs201432731
NM_138694.3(PKHD1):c.2243C>T (p.Ala748Val) rs141622697
NM_138694.3(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.3(PKHD1):c.2279+13T>G rs188914598
NM_138694.3(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.3(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.3(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.3(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.3(PKHD1):c.2507T>C (p.Val836Ala)
NM_138694.3(PKHD1):c.2715+7delG rs551015414
NM_138694.3(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.3(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421
NM_138694.3(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.3(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.3(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_138694.3(PKHD1):c.325G>A (p.Ala109Thr) rs143979330
NM_138694.3(PKHD1):c.3303A>G (p.Thr1101=) rs148335285
NM_138694.3(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.3(PKHD1):c.3528dupC (p.Ser1177Leufs) rs797044713
NM_138694.3(PKHD1):c.3537T>C (p.Asn1179=) rs141574387
NM_138694.3(PKHD1):c.353delG (p.Ser118Ilefs) rs398124483
NM_138694.3(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481
NM_138694.3(PKHD1):c.3694_3725del32 (p.Val1232Asnfs) rs1057516762
NM_138694.3(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.3(PKHD1):c.3761_3762delCCinsG (p.Ala1254Glyfs) rs398124484
NM_138694.3(PKHD1):c.3766delC (p.Gln1256Argfs) rs746972457
NM_138694.3(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.3(PKHD1):c.3804C>T (p.Ala1268=) rs201769990
NM_138694.3(PKHD1):c.3984C>T (p.Val1328=) rs182468850
NM_138694.3(PKHD1):c.4141delG (p.Val1381Cysfs) rs778537772
NM_138694.3(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.3(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.3(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.3(PKHD1):c.449-9_449-7delTTC rs545812620
NM_138694.3(PKHD1):c.4733delA (p.Tyr1578Phefs) rs727504087
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.3(PKHD1):c.4920A>G (p.Val1640=) rs142465959
NM_138694.3(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.3(PKHD1):c.5112C>T (p.Cys1704=) rs202010726
NM_138694.3(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.3(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.3(PKHD1):c.5235C>T (p.Phe1745=) rs187667255
NM_138694.3(PKHD1):c.5236+14A>G rs12210725
NM_138694.3(PKHD1):c.5236+1G>A rs398124487
NM_138694.3(PKHD1):c.5358C>T (p.Ser1786=) rs78543922
NM_138694.3(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.3(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.3(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.3(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.3(PKHD1):c.5879_5880delCA (p.Thr1960Lysfs) rs771180444
NM_138694.3(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.3(PKHD1):c.6184C>T (p.Leu2062=) rs116156469
NM_138694.3(PKHD1):c.6211A>C (p.Asn2071His) rs143832120
NM_138694.3(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.3(PKHD1):c.6333-8_6333-7delTT rs138161138
NM_138694.3(PKHD1):c.652G>A (p.Glu218Lys) rs149522482
NM_138694.3(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.3(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.3(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.3(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.3(PKHD1):c.707+1G>A rs748365248
NM_138694.3(PKHD1):c.7110-7T>A rs113034899
NM_138694.3(PKHD1):c.711_714delAATG (p.Met238Serfs) rs786204588
NM_138694.3(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755
NM_138694.3(PKHD1):c.7350+653A>G rs1240212722
NM_138694.3(PKHD1):c.7482A>T (p.Gly2494=) rs199996156
NM_138694.3(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857
NM_138694.3(PKHD1):c.7873T>C (p.Leu2625=) rs140033417
NM_138694.3(PKHD1):c.7912-5T>G rs371510537
NM_138694.3(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.3(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.3(PKHD1):c.8022G>T (p.Leu2674=) rs755688912
NM_138694.3(PKHD1):c.8173+12C>T rs368093611
NM_138694.3(PKHD1):c.8174-10dupT rs566540835
NM_138694.3(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.3(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759
NM_138694.3(PKHD1):c.8521A>G (p.Met2841Val) rs113562492
NM_138694.3(PKHD1):c.8555-2A>G rs1020621286
NM_138694.3(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.3(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.3(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.3(PKHD1):c.8673C>G (p.Arg2891=) rs116098879
NM_138694.3(PKHD1):c.8677dup (p.His2893Profs) rs1554221465
NM_138694.3(PKHD1):c.881-1G>A rs1554220431
NM_138694.3(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500
NM_138694.3(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706
NM_138694.3(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.3(PKHD1):c.9363T>C (p.Asn3121=) rs183674012
NM_138694.3(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.3(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_138694.3(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244
NM_138694.3(PKHD1):c.9492C>T (p.Ser3164=) rs17752991
NM_138694.3(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.3(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593
NM_138694.3(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_138694.3(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577
NM_138694.3(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.3(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878
NM_138694.3(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_138694.3(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_170724.2(PKHD1):c.544G>A (p.Ala182Thr) rs142346881

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