Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)	SNV Germline	Chr16:2091861	Pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA119376	rs_199476098	3 SubmittersRCV000008684 RCV003993740
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)	SNV Germline	Chr4:88065479	Pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA123160	rs_121918040	6 SubmittersRCV000518276 RCV000654888 RCV000014473
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	SNV Germline	Chr4:88046712	Pathogenic	Polycystic kidney disease 2 Polycystic kidney disease Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA123164	rs_121918042	7 SubmittersRCV000014476 RCV001292355 RCV001659695 RCV003764572
NM_014714.4(IFT140):c.2399+1G>T	SNV Germline	Chr16:1557934	Pathogenic	Saldino-Mainzer syndrome Retinitis pigmentosa 80 Retinal dystrophy Saldino-Mainzer syndrome Retinitis pigmentosa 80 Condition: not provided IFT140-related disorder Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA129886	rs_376586707	9 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 RCV003993751
NM_000297.4(PKD2):c.709+1G>A	SNV Germline	Chr4:88019572	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA220617	rs_398123308	5 SubmittersRCV000078584 RCV001292113 RCV002470757 RCV003584550
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	SNV Germline	Chr6:52048558	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA224056	rs_398124478	17 SubmittersRCV000176433 RCV000788487 RCV001844805 RCV001262428
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)	SNV Germline	Chr11:68423568	Conflicting classifications of pathogenicity	Polycystic kidney disease, adult type not specified 9 conditions Condition: not provided Autosomal dominant osteopetrosis 1 Autosomal dominant polycystic kidney disease Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA210921	rs_61889560	16 SubmittersRCV000162089 RCV000174732 RCV000765011 RCV000767146 RCV001260288 RCV001844811 RCV002277317
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	SNV Germline	Chr16:2099955	Pathogenic/Likely pathogenic	Polycystic kidney disease, adult type Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA347279	rs_148812376	9 SubmittersRCV000192215 RCV000497386 RCV001254214
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)	SNV Germline	Chr4:88075633	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease PKD2-related disorder	Criteria Provided Conflicting Classifications	CA240436	rs_749666891	3 SubmittersRCV000174840 RCV002056924 RCV003975278
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)	SNV Germline	Chr4:88046767	Conflicting classifications of pathogenicity	not specified Condition: not provided Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Conflicting Classifications	CA350573	rs_75762896	12 SubmittersRCV000244662 RCV000712679 RCV001001706 RCV001080594 RCV001292488
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)	SNV Germline	Chr4:88067937	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease not specified Polycystic kidney disease 2 Polycystic kidney disease Joubert syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA348383	rs_2234917	12 SubmittersRCV000204140 RCV000253113 RCV001000584 RCV001292230 RCV001258257 RCV001705172
NM_000297.4(PKD2):c.1549-4T>C	SNV Germline	Chr4:88051987	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3003990	rs_374450718	3 SubmittersRCV000254194 RCV000725986 RCV002057336
NM_000297.4(PKD2):c.784G>A (p.Val262Met)	SNV Germline	Chr4:88036294	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 Polycystic kidney disease PKD2-related disorder	Criteria Provided Conflicting Classifications	CA3003802	rs_138132026	8 SubmittersRCV000384588 RCV000863295 RCV001088117 RCV001157035 RCV001292418 RCV003949899
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)	SNV Germline	Chr4:88067950	Conflicting classifications of pathogenicity	not specified Autosomal dominant polycystic kidney disease Condition: not provided Polycystic kidney disease 2 Polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3004246	rs_145343957	10 SubmittersRCV000405309 RCV001084804 RCV000755622 RCV001157152 RCV001292453
NM_000297.4(PKD2):c.1836T>C (p.Ala612=)	SNV Germline	Chr4:88056205	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3004060	rs_145952917	3 SubmittersRCV000376955 RCV001653681 RCV001861243
NM_000297.4(PKD2):c.2388A>G (p.Leu796=)	SNV Germline	Chr4:88067927	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease PKD2-related disorder	Criteria Provided Conflicting Classifications	CA3004237	rs_535577967	3 SubmittersRCV000352508 RCV003584590 RCV003932437
NM_000297.4(PKD2):c.2240+10A>G	SNV Germline	Chr4:88065505	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3004167	rs_201679112	2 SubmittersRCV000337403 RCV002061253
NM_000297.4(PKD2):c.2829C>T (p.Ser943=)	SNV Germline	Chr4:88075616	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA3004372	rs_138495345	2 SubmittersRCV000396174 RCV001094971
NM_000297.4(PKD2):c.356G>A (p.Arg119His)	SNV Germline	Chr4:88008089	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Polycystic kidney disease Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10621885	rs_748654180	5 SubmittersRCV000338456 RCV000499413 RCV001556063 RCV002523490
NM_000297.4(PKD2):c.1542C>T (p.Ile514=)	SNV Germline	Chr4:88046864	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3003963	rs_145716012	2 SubmittersRCV000379635 RCV003746515
NM_000297.4(PKD2):c.189C>T (p.Ala63=)	SNV Germline	Chr4:88007922	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10621927	rs_886059695	2 SubmittersRCV000283381 RCV002520285
NM_000297.4(PKD2):c.2241-9T>C	SNV Germline	Chr4:88065753	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10621930	rs_886059702	2 SubmittersRCV000405768 RCV001421071
NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln)	SNV Germline	Chr4:88075507	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3004345	rs_150947109	4 SubmittersRCV001000569 RCV001418742 RCV002523491
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	SNV Germline	Chr16:2103746	Pathogenic/Likely pathogenic	Hypertensive disorder Multiple renal cysts Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA16043505	rs_1057518897	16 SubmittersRCV000415041 RCV000518237 RCV000763371 RCV001254205 RCV001292353
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)	SNV Germline	Chr4:88038323	Pathogenic	Polycystic kidney disease 2 Condition: not provided Polycystic kidney disease Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA16609391	rs_200001068	11 SubmittersRCV000449565 RCV000681703 RCV001292151 RCV001861649
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)	SNV Germline	Chr4:88038380	Pathogenic	Autosomal dominant polycystic kidney disease Condition: not provided Polycystic kidney disease 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16611587	rs_1060503526	11 SubmittersRCV000456934 RCV000517676 RCV001000019 RCV003352876
NM_000297.4(PKD2):c.1319+1G>A	SNV Germline	Chr4:88043458	Pathogenic/Likely pathogenic	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Condition: not provided Inborn genetic diseases Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA357616589	rs_1131692280	8 SubmittersRCV000496001 RCV000542204 RCV000992621 RCV000622691 RCV001292205
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)	SNV Germline	Chr4:88008094	Conflicting classifications of pathogenicity	not specified Autosomal dominant polycystic kidney disease PKD2-related disorder	Criteria Provided Conflicting Classifications	CA3003723	rs_371898195	3 SubmittersRCV000501803 RCV000868775 RCV003915359
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	SNV Germline	Chr16:2108680	Pathogenic	Autosomal dominant polycystic kidney disease not specified Condition: not provided Renal cyst Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA394373464	rs_1555454411	9 SubmittersRCV000500237 RCV000508539 RCV000681684 RCV001526541 RCV002289687
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)	SNV Germline	Chr16:2116856	Pathogenic	Autosomal dominant polycystic kidney disease PKD1-related disorder	Criteria Provided Single Submitter	CA394391699	rs_750798165	2 SubmittersRCV000504528 RCV003403159
NM_000297.4(PKD2):c.595+15C>T	SNV Germline	Chr4:88008343	Conflicting classifications of pathogenicity	not specified Polycystic kidney disease Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3003733	rs_559555727	5 SubmittersRCV000507327 RCV001292346 RCV002056911 RCV001155351 RCV001561763
NM_001009944.3(PKD1):c.11713-1G>A	SNV Germline	Chr16:2091175	Pathogenic/Likely pathogenic	not specified Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394330362	rs_867092741	4 SubmittersRCV000508100 RCV000518635 RCV001254257
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)	SNV Germline	Chr16:2094013	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7829481	rs_201409107	6 SubmittersRCV000506256 RCV001729620 RCV001844834 RCV004023436
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)	SNV Germline	Chr16:2100465	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease, adult type Polycystic kidney disease Autosomal dominant polycystic kidney disease PKD1-related disorder	Criteria Provided Conflicting Classifications	CA7830069	rs_139945204	9 SubmittersRCV000710171 RCV000735684 RCV001292326 RCV001254209 RCV003409720
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	SNV Germline	Chr4:88038371	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 Polycystic kidney disease Inborn genetic diseases PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA357632796	rs_1553925453	12 SubmittersRCV000516923 RCV000654890 RCV001002478 RCV001292058 RCV002525062 RCV003403222
NM_000297.4(PKD2):c.1898+5G>A	SNV Germline	Chr4:88056272	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 2 Polycystic kidney disease Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA658657394	rs_1553926929	6 SubmittersRCV000517227 RCV001001334 RCV001292443 RCV002527509
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	SNV Germline	Chr4:88074903	Pathogenic	Condition: not provided Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA3004304	rs_755226061	15 SubmittersRCV000518186 RCV000763531 RCV001236356 RCV001292360
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)	SNV Germline	Chr16:2107983	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA7831358	rs_564570407	4 SubmittersRCV000516279 RCV001573533 RCV001254226
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)	SNV Germline	Chr16:2117043	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA276783285	rs_2855341	6 SubmittersRCV000518467 RCV001254311 RCV001292370 RCV002470893
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)	SNV Germline	Chr16:2135616	Conflicting classifications of pathogenicity	not specified Autosomal dominant polycystic kidney disease Condition: not provided PKD1-related disorder	Criteria Provided Conflicting Classifications	CA276756583	rs_972049140	4 SubmittersRCV000517600 RCV001254275 RCV001576333 RCV003925547
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)	SNV Germline	Chr4:88056143	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA357622723	rs_1553926905	5 SubmittersRCV000556150 RCV001292157 RCV001331141
NM_000297.4(PKD2):c.2019+1G>A	SNV Germline	Chr4:88058104	Pathogenic/Likely pathogenic	Autosomal dominant polycystic kidney disease Condition: not provided Polycystic kidney disease 2 PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA357623301	rs_1553927080	7 SubmittersRCV000540659 RCV000992623 RCV001280901 RCV003403342
NM_000297.4(PKD2):c.2241-14C>T	SNV Germline	Chr4:88065748	Conflicting classifications of pathogenicity	Hydrocele testis Multiple renal cysts Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3004184	rs_763507546	2 SubmittersRCV000626653 RCV003584675
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)	SNV Germline	Chr4:88074822	Pathogenic	Condition: not provided Polycystic kidney disease 2 Polycystic kidney disease Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA3004284	rs_369678636	7 SubmittersRCV000627205 RCV000763530 RCV001292154 RCV002529806
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)	SNV Germline	Chr4:88019499	Pathogenic	Autosomal dominant polycystic kidney disease Condition: not provided Polycystic kidney disease 2 Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA10575461	rs_1302726543	9 SubmittersRCV000654889 RCV000681770 RCV000763529 RCV001292056
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)	SNV Germline	Chr4:88043387	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1324209174	14 SubmittersRCV000681683 RCV001281322 RCV001861899 RCV001292055
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)	SNV Germline	Chr16:2106599	Pathogenic	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_2432403	5 SubmittersRCV000681700 RCV000763373 RCV001254314 RCV001292446
NM_000297.4(PKD2):c.1548+1G>A	SNV Germline	Chr4:88046871	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts		rs_752024467	3 SubmittersRCV000681723 RCV001868310 RCV002499203
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	SNV Germline	Chr16:2114843	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease Polycystic kidney disease Polycystic kidney disease 3 with or without polycystic liver disease	Criteria Provided Conflicting Classifications		rs_1616940	15 SubmittersRCV000681747 RCV001095631 RCV001254281 RCV001292243 RCV000761328
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	SNV Germline	Chr4:88038365	Pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 Polycystic kidney disease PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_749004212	6 SubmittersRCV000681764 RCV000703336 RCV001535902 RCV001292054 RCV003420205
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)	SNV Germline	Chr4:88046647	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_1391596181	1 SubmittersRCV000695442
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)	SNV Germline	Chr4:88038401	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200314088	4 SubmittersRCV000756541 RCV001157037 RCV001399177 RCV002536562
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)	SNV Germline	Chr4:88067946	Pathogenic	Polycystic kidney disease 2 Polycystic kidney disease Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_778235410	8 SubmittersRCV000756535 RCV001292538 RCV001249119 RCV002533792
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)	SNV Germline	Chr16:2113267	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1567208088	5 SubmittersRCV000757636 RCV001292068 RCV001254294
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	SNV Germline	Chr4:88038488	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 2 Polycystic kidney disease Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1578130676	10 SubmittersRCV000788690 RCV001000981 RCV001292537 RCV001869209
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	SNV Germline	Chr16:2092500	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1327414405	8 SubmittersRCV000788943 RCV001095597 RCV001254256 RCV001292160
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)	SNV Germline	Chr16:2110616	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease PKD1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1238351274	4 SubmittersRCV000788822 RCV001844846 RCV003892704
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)	SNV Germline	Chr16:2117579	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1060499699	3 SubmittersRCV000788499 RCV003994117
NM_000297.4(PKD2):c.441G>A (p.Ala147=)	SNV Germline	Chr4:88008174	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 PKD2-related disorder	Criteria Provided Conflicting Classifications		rs_866815144	3 SubmittersRCV000860625 RCV001155349 RCV003948043
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro)	SNV Germline	Chr4:88075516	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_144590958	2 SubmittersRCV000868499 RCV001414324
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)	SNV Germline	Chr4:88046687	Pathogenic	Condition: not provided Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1578135870	5 SubmittersRCV000992622 RCV002488093 RCV002549800 RCV003413781
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	SNV Germline	Chr16:2090191	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications		rs_1282668884	4 SubmittersRCV000992559 RCV001356997 RCV001292454 RCV001536035
NM_001009944.3(PKD1):c.11017-10C>A	SNV Germline	Chr16:2093103	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_555703777	5 SubmittersRCV000992548 RCV001292441 RCV002497287 RCV003229566
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)	SNV Germline	Chr4:88046642	Pathogenic/Likely pathogenic	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_886041114	7 SubmittersRCV001002301 RCV001221367 RCV003148910
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	SNV Germline	Chr16:2105411	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts		rs_1452322332	6 SubmittersRCV001091876 RCV001254251 RCV001292442 RCV001252966
NM_000297.4(PKD2):c.9C>T (p.Asn3=)	SNV Germline	Chr4:88007742	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Condition: not provided Autosomal dominant polycystic kidney disease PKD2-related disorder	Criteria Provided Conflicting Classifications		rs_773343245	4 SubmittersRCV001151506 RCV001356949 RCV002070836 RCV003963096
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys)	SNV Germline	Chr4:88074957	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_770609334	3 SubmittersRCV001157153 RCV001248566 RCV001655687
NM_000297.4(PKD2):c.752G>A (p.Arg251Gln)	SNV Germline	Chr4:88036262	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147000344	2 SubmittersRCV001241961 RCV002564014
NM_001009944.3(PKD1):c.11712+1G>C	SNV Germline	Chr16:2091422	Likely pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_2091571329	2 SubmittersRCV001249163 RCV001844854
NM_001009944.3(PKD1):c.7489+5G>A	SNV Germline	Chr16:2106393	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease PKD1-related disorder	Criteria Provided Conflicting Classifications		rs_2092337963	2 SubmittersRCV001249110 RCV003229568 RCV003963153
NM_000297.4(PKD2):c.2118+1G>C	SNV Germline	Chr4:88062005	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts		rs_1720594399	2 SubmittersRCV001254252 RCV002284477
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter)	SNV Germline	Chr16:2099890	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_1415277933	1 SubmittersRCV001254317
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter)	SNV Germline	Chr16:2108633	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_1054011070	1 SubmittersRCV001254253
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)	SNV Germline	Chr16:2108826	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_2092427197	1 SubmittersRCV001254227
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys)	SNV Germline	Chr16:2103833	Conflicting classifications of pathogenicity	Polycystic kidney disease, adult type PKD1-related disorder Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_202159463	3 SubmittersRCV001254607 RCV003918808 RCV003994247
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)	SNV Germline	Chr16:2113268	Conflicting classifications of pathogenicity	Polycystic kidney disease Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1163700577	4 SubmittersRCV001270439 RCV002471077 RCV003229569
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)	SNV Germline	Chr4:88008289	Pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_1726258048	2 SubmittersRCV001288349 RCV001844856
NM_000297.4(PKD2):c.733A>C (p.Asn245His)	SNV Germline	Chr4:88036243	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications		rs_200543024	3 SubmittersRCV001288351 RCV001871709 RCV002486084
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter)	SNV Germline	Chr16:2111439	Pathogenic	Polycystic kidney disease Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_2092501974	3 SubmittersRCV001292541 RCV002275340 RCV003994255
NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala)	SNV Germline	Chr4:88043291	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1331921848	3 SubmittersRCV001376138 RCV002550957 RCV004037625
NM_000297.4(PKD2):c.595+1G>A	SNV Germline	Chr4:88008329	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_1578111778	1 SubmittersRCV001385677
NM_000297.4(PKD2):c.595+2T>C	SNV Germline	Chr4:88008330	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_1018717398	1 SubmittersRCV001380588
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)	SNV Germline	Chr4:88038425	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts		rs_2110107236	2 SubmittersRCV001382094 RCV002488201
NM_000297.4(PKD2):c.710-1G>A	SNV Germline	Chr4:88036219	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2110104725	1 SubmittersRCV001844863
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)	SNV Germline	Chr6:52022821	Conflicting classifications of pathogenicity	Polycystic kidney disease 4 not specified Autosomal dominant polycystic kidney disease Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_367970695	6 SubmittersRCV001751808 RCV003323914 RCV001844868 RCV003329410 RCV003502598
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)	SNV Germline	Chr16:2108612	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_755972713	1 SubmittersRCV001844969
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)	SNV Germline	Chr16:2114184	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_763199691	1 SubmittersRCV001844970
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met)	SNV Germline	Chr16:2111302	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_541552030	1 SubmittersRCV001844973
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)	SNV Germline	Chr16:2109488	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	No Assertion Criteria Provided		rs_2151792059	2 SubmittersRCV001844975 RCV003333768
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)	SNV Germline	Chr16:2108776	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151788244	1 SubmittersRCV001844978
NM_001009944.3(PKD1):c.11016+1G>A	SNV Germline	Chr16:2093543	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151707040	1 SubmittersRCV001844980
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)	SNV Germline	Chr16:2100421	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2092047055	1 SubmittersRCV001844983
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)	SNV Germline	Chr16:2119316	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151826530	1 SubmittersRCV001844984
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)	SNV Germline	Chr16:2110102	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_534630703	1 SubmittersRCV001844989
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)	SNV Germline	Chr16:2097185	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Single Submitter		rs_1385274120	2 SubmittersRCV001844990 RCV002506716
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)	SNV Germline	Chr16:2097418	Likely pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Single Submitter		rs_2151726823	2 SubmittersRCV001844991 RCV003446858
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)	SNV Germline	Chr16:2103694	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_761060813	1 SubmittersRCV001844993
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)	SNV Germline	Chr16:2118352	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_1567218351	1 SubmittersRCV001844995
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)	SNV Germline	Chr16:2100267	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_1596513913	1 SubmittersRCV001844998
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)	SNV Germline	Chr16:2111421	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2092501507	1 SubmittersRCV001844999
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)	SNV Germline	Chr16:2091788	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151697614	1 SubmittersRCV001845002
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)	SNV Germline	Chr16:2091866	Likely pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Single Submitter		rs_2151698069	2 SubmittersRCV001845003 RCV002477881
NM_001009944.3(PKD1):c.9569-1G>C	SNV Germline	Chr16:2100310	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151741177	1 SubmittersRCV001845005
NM_001009944.3(PKD1):c.9398-2A>G	SNV Germline	Chr16:2100568	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151742515	1 SubmittersRCV001845006
NM_001009944.3(PKD1):c.7065+2T>G	SNV Germline	Chr16:2107881	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151783529	1 SubmittersRCV001845008
NM_001009944.3(PKD1):c.6915+1G>A	SNV Germline	Chr16:2108251	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151785467	1 SubmittersRCV001845009
NM_001009944.3(PKD1):c.359+3A>T	SNV Germline	Chr16:2119111	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151826018	1 SubmittersRCV001845010
NM_001009944.3(PKD1):c.11270-1G>A	SNV Germline	Chr16:2092189	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2151700092	1 SubmittersRCV001845012
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)	SNV Germline	Chr4:88068047	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_757682666	3 SubmittersRCV001845013 RCV002477882 RCV003984042
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)	SNV Germline	Chr4:88043241	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2110112018	1 SubmittersRCV001845014
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)	SNV Germline	Chr4:88061948	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_2110134005	1 SubmittersRCV001845018
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)	SNV Germline	Chr4:88038267	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided		rs_1727413505	1 SubmittersRCV001845020
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)	SNV Germline	Chr4:88046688	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_2110115819	1 SubmittersRCV001945143
NM_000297.4(PKD2):c.2399T>C (p.Met800Thr)	SNV Germline	Chr4:88067938	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376271163	2 SubmittersRCV001926922 RCV004044284
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn)	SNV Germline	Chr4:88038440	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter		rs_1485588385	1 SubmittersRCV002031774
NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile)	SNV Germline	Chr4:88043361	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148386297	2 SubmittersRCV001967316 RCV003167325
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)	SNV Germline	Chr4:88019502	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts		rs_2110089248	2 SubmittersRCV001958713 RCV002479589
NM_000297.4(PKD2):c.843G>A (p.Lys281=)	SNV Germline	Chr4:88036353	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Condition: not provided PKD2-related disorder	Criteria Provided Conflicting Classifications		rs_1727333486	3 SubmittersRCV002003620 RCV002463091 RCV003434379
NM_001009944.3(PKD1):c.11017-25A>C	SNV Germline	Chr16:2093118	Conflicting classifications of pathogenicity	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_2151704874	2 SubmittersRCV002273050 RCV003229570
NM_001009944.3(PKD1):c.11017-25A>G	SNV Germline	Chr16:2093118	Likely pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002471290 RCV003229571
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)	SNV Germline	Chr16:2115484	Conflicting classifications of pathogenicity	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV002468949 RCV003229573
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)	SNV Germline	Chr16:2097917	Pathogenic/Likely pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002471292 RCV003229574
NM_001009944.3(PKD1):c.215+2T>G	SNV Germline	Chr16:2135473	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV002463868
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)	SNV Germline	Chr4:88046843	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV002651834
NM_000297.4(PKD2):c.1095-2A>T	SNV Germline	Chr4:88043231	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV002594444
NM_000297.4(PKD2):c.2020-2A>G	SNV Germline	Chr4:88061904	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV002736013
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)	SNV Germline	Chr4:88056233	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease PKD2-related disorder Polycystic kidney disease 2	Criteria Provided Conflicting Classifications			3 SubmittersRCV002850961 RCV003427509 RCV003989789
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)	SNV Germline	Chr4:88007941	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV003007779
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)	SNV Germline	Chr4:88056144	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV003020531
NM_000297.4(PKD2):c.2118+2T>C	SNV Germline	Chr4:88062006	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV003584255
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)	SNV Germline	Chr4:88056212	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV003747172
NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter)	SNV Germline	Chr16:2103454	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications			2 SubmittersRCV003994731 RCV004565962

NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)

SNV
Germline

Chr16:2091861

Pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA119376

rs_199476098

3 SubmittersRCV000008684 RCV003993740

NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)

SNV
Germline

Chr4:88065479

Pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA123160

rs_121918040

6 SubmittersRCV000518276 RCV000654888 RCV000014473

NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)

SNV
Germline

Chr4:88046712

Pathogenic

Polycystic kidney disease 2
Polycystic kidney disease
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA123164

rs_121918042

7 SubmittersRCV000014476 RCV001292355 RCV001659695 RCV003764572

NM_014714.4(IFT140):c.2399+1G>T

SNV
Germline

Chr16:1557934

Pathogenic

Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Retinal dystrophy
Saldino-Mainzer syndrome
Retinitis pigmentosa 80
Condition: not provided
IFT140-related disorder
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA129886

rs_376586707

9 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 RCV003993751

NM_000297.4(PKD2):c.709+1G>A

SNV
Germline

Chr4:88019572

Pathogenic/Likely pathogenic

Condition: not provided
Polycystic kidney disease
Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA220617

rs_398123308

5 SubmittersRCV000078584 RCV001292113 RCV002470757 RCV003584550

NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)

SNV
Germline

Chr6:52048558

Pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA224056

rs_398124478

17 SubmittersRCV000176433 RCV000788487 RCV001844805 RCV001262428

NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)

SNV
Germline

Chr11:68423568

Conflicting classifications of pathogenicity

Polycystic kidney disease, adult type
not specified
9 conditions
Condition: not provided
Autosomal dominant osteopetrosis 1
Autosomal dominant polycystic kidney disease
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA210921

rs_61889560

16 SubmittersRCV000162089 RCV000174732 RCV000765011 RCV000767146 RCV001260288 RCV001844811 RCV002277317

NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)

SNV
Germline

Chr16:2099955

Pathogenic/Likely pathogenic

Polycystic kidney disease, adult type
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA347279

rs_148812376

9 SubmittersRCV000192215 RCV000497386 RCV001254214

NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)

SNV
Germline

Chr4:88075633

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease
PKD2-related disorder

Criteria Provided
Conflicting Classifications

CA240436

rs_749666891

3 SubmittersRCV000174840 RCV002056924 RCV003975278

NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)

SNV
Germline

Chr4:88046767

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA350573

rs_75762896

12 SubmittersRCV000244662 RCV000712679 RCV001001706 RCV001080594 RCV001292488

NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)

SNV
Germline

Chr4:88067937

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
not specified
Polycystic kidney disease 2
Polycystic kidney disease
Joubert syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348383

rs_2234917

12 SubmittersRCV000204140 RCV000253113 RCV001000584 RCV001292230 RCV001258257 RCV001705172

NM_000297.4(PKD2):c.1549-4T>C

SNV
Germline

Chr4:88051987

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3003990

rs_374450718

3 SubmittersRCV000254194 RCV000725986 RCV002057336

NM_000297.4(PKD2):c.784G>A (p.Val262Met)

SNV
Germline

Chr4:88036294

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
Polycystic kidney disease
PKD2-related disorder

Criteria Provided
Conflicting Classifications

CA3003802

rs_138132026

8 SubmittersRCV000384588 RCV000863295 RCV001088117 RCV001157035 RCV001292418 RCV003949899

NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)

SNV
Germline

Chr4:88067950

Conflicting classifications of pathogenicity

not specified
Autosomal dominant polycystic kidney disease
Condition: not provided
Polycystic kidney disease 2
Polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3004246

rs_145343957

10 SubmittersRCV000405309 RCV001084804 RCV000755622 RCV001157152 RCV001292453

NM_000297.4(PKD2):c.1836T>C (p.Ala612=)

SNV
Germline

Chr4:88056205

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3004060

rs_145952917

3 SubmittersRCV000376955 RCV001653681 RCV001861243

NM_000297.4(PKD2):c.2388A>G (p.Leu796=)

SNV
Germline

Chr4:88067927

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
PKD2-related disorder

Criteria Provided
Conflicting Classifications

CA3004237

rs_535577967

3 SubmittersRCV000352508 RCV003584590 RCV003932437

NM_000297.4(PKD2):c.2240+10A>G

SNV
Germline

Chr4:88065505

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3004167

rs_201679112

2 SubmittersRCV000337403 RCV002061253

NM_000297.4(PKD2):c.2829C>T (p.Ser943=)

SNV
Germline

Chr4:88075616

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA3004372

rs_138495345

2 SubmittersRCV000396174 RCV001094971

NM_000297.4(PKD2):c.356G>A (p.Arg119His)

SNV
Germline

Chr4:88008089

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Polycystic kidney disease
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10621885

rs_748654180

5 SubmittersRCV000338456 RCV000499413 RCV001556063 RCV002523490

NM_000297.4(PKD2):c.1542C>T (p.Ile514=)

SNV
Germline

Chr4:88046864

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3003963

rs_145716012

2 SubmittersRCV000379635 RCV003746515

NM_000297.4(PKD2):c.189C>T (p.Ala63=)

SNV
Germline

Chr4:88007922

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10621927

rs_886059695

2 SubmittersRCV000283381 RCV002520285

NM_000297.4(PKD2):c.2241-9T>C

SNV
Germline

Chr4:88065753

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10621930

rs_886059702

2 SubmittersRCV000405768 RCV001421071

NM_000297.4(PKD2):c.2720G>A (p.Arg907Gln)

SNV
Germline

Chr4:88075507

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3004345

rs_150947109

4 SubmittersRCV001000569 RCV001418742 RCV002523491

NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)

SNV
Germline

Chr16:2103746

Pathogenic/Likely pathogenic

Hypertensive disorder
Multiple renal cysts
Condition: not provided
Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease
Polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16043505

rs_1057518897

16 SubmittersRCV000415041 RCV000518237 RCV000763371 RCV001254205 RCV001292353

NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)

SNV
Germline

Chr4:88038323

Pathogenic

Polycystic kidney disease 2
Condition: not provided
Polycystic kidney disease
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16609391

rs_200001068

11 SubmittersRCV000449565 RCV000681703 RCV001292151 RCV001861649

NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)

SNV
Germline

Chr4:88038380

Pathogenic

Autosomal dominant polycystic kidney disease
Condition: not provided
Polycystic kidney disease 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16611587

rs_1060503526

11 SubmittersRCV000456934 RCV000517676 RCV001000019 RCV003352876

NM_000297.4(PKD2):c.1319+1G>A

SNV
Germline

Chr4:88043458

Pathogenic/Likely pathogenic

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Condition: not provided
Inborn genetic diseases
Polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA357616589

rs_1131692280

8 SubmittersRCV000496001 RCV000542204 RCV000992621 RCV000622691 RCV001292205

NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)

SNV
Germline

Chr4:88008094

Conflicting classifications of pathogenicity

not specified
Autosomal dominant polycystic kidney disease
PKD2-related disorder

Criteria Provided
Conflicting Classifications

CA3003723

rs_371898195

3 SubmittersRCV000501803 RCV000868775 RCV003915359

NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)

SNV
Germline

Chr16:2108680

Pathogenic

Autosomal dominant polycystic kidney disease
not specified
Condition: not provided
Renal cyst
Polycystic kidney disease, adult type

Criteria Provided
Multiple Submitters
No Conflicts

CA394373464

rs_1555454411

9 SubmittersRCV000500237 RCV000508539 RCV000681684 RCV001526541 RCV002289687

NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)

SNV
Germline

Chr16:2116856

Pathogenic

Autosomal dominant polycystic kidney disease
PKD1-related disorder

Criteria Provided
Single Submitter

CA394391699

rs_750798165

2 SubmittersRCV000504528 RCV003403159

NM_000297.4(PKD2):c.595+15C>T

SNV
Germline

Chr4:88008343

Conflicting classifications of pathogenicity

not specified
Polycystic kidney disease
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3003733

rs_559555727

5 SubmittersRCV000507327 RCV001292346 RCV002056911 RCV001155351 RCV001561763

NM_001009944.3(PKD1):c.11713-1G>A

SNV
Germline

Chr16:2091175

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394330362

rs_867092741

4 SubmittersRCV000508100 RCV000518635 RCV001254257

NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)

SNV
Germline

Chr16:2094013

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7829481

rs_201409107

6 SubmittersRCV000506256 RCV001729620 RCV001844834 RCV004023436

NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)

SNV
Germline

Chr16:2100465

Conflicting classifications of pathogenicity

Condition: not provided
Polycystic kidney disease, adult type
Polycystic kidney disease
Autosomal dominant polycystic kidney disease
PKD1-related disorder

Criteria Provided
Conflicting Classifications

CA7830069

rs_139945204

9 SubmittersRCV000710171 RCV000735684 RCV001292326 RCV001254209 RCV003409720

NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)

SNV
Germline

Chr4:88038371

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
Polycystic kidney disease
Inborn genetic diseases
PKD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA357632796

rs_1553925453

12 SubmittersRCV000516923 RCV000654890 RCV001002478 RCV001292058 RCV002525062 RCV003403222

NM_000297.4(PKD2):c.1898+5G>A

SNV
Germline

Chr4:88056272

Pathogenic/Likely pathogenic

Condition: not provided
Polycystic kidney disease 2
Polycystic kidney disease
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA658657394

rs_1553926929

6 SubmittersRCV000517227 RCV001001334 RCV001292443 RCV002527509

NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)

SNV
Germline

Chr4:88074903

Pathogenic

Condition: not provided
Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3004304

rs_755226061

15 SubmittersRCV000518186 RCV000763531 RCV001236356 RCV001292360

NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)

SNV
Germline

Chr16:2107983

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA7831358

rs_564570407

4 SubmittersRCV000516279 RCV001573533 RCV001254226

NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)

SNV
Germline

Chr16:2117043

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

CA276783285

rs_2855341

6 SubmittersRCV000518467 RCV001254311 RCV001292370 RCV002470893

NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)

SNV
Germline

Chr16:2135616

Conflicting classifications of pathogenicity

not specified
Autosomal dominant polycystic kidney disease
Condition: not provided
PKD1-related disorder

Criteria Provided
Conflicting Classifications

CA276756583

rs_972049140

4 SubmittersRCV000517600 RCV001254275 RCV001576333 RCV003925547

NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)

SNV
Germline

Chr4:88056143

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA357622723

rs_1553926905

5 SubmittersRCV000556150 RCV001292157 RCV001331141

NM_000297.4(PKD2):c.2019+1G>A

SNV
Germline

Chr4:88058104

Pathogenic/Likely pathogenic

Autosomal dominant polycystic kidney disease
Condition: not provided
Polycystic kidney disease 2
PKD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA357623301

rs_1553927080

7 SubmittersRCV000540659 RCV000992623 RCV001280901 RCV003403342

NM_000297.4(PKD2):c.2241-14C>T

SNV
Germline

Chr4:88065748

Conflicting classifications of pathogenicity

Hydrocele testis
Multiple renal cysts
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3004184

rs_763507546

2 SubmittersRCV000626653 RCV003584675

NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)

SNV
Germline

Chr4:88074822

Pathogenic

Condition: not provided
Polycystic kidney disease 2
Polycystic kidney disease
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3004284

rs_369678636

7 SubmittersRCV000627205 RCV000763530 RCV001292154 RCV002529806

NM_000297.4(PKD2):c.637C>T (p.Arg213Ter)

SNV
Germline

Chr4:88019499

Pathogenic

Autosomal dominant polycystic kidney disease
Condition: not provided
Polycystic kidney disease 2
Polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10575461

rs_1302726543

9 SubmittersRCV000654889 RCV000681770 RCV000763529 RCV001292056

NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)

SNV
Germline

Chr4:88043387

Pathogenic/Likely pathogenic

Condition: not provided
Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1324209174

14 SubmittersRCV000681683 RCV001281322 RCV001861899 RCV001292055

NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)

SNV
Germline

Chr16:2106599

Pathogenic

Condition: not provided
Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease
Polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2432403

5 SubmittersRCV000681700 RCV000763373 RCV001254314 RCV001292446

NM_000297.4(PKD2):c.1548+1G>A

SNV
Germline

Chr4:88046871

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_752024467

3 SubmittersRCV000681723 RCV001868310 RCV002499203

NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)

SNV
Germline

Chr16:2114843

Conflicting classifications of pathogenicity

Condition: not provided
Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease
Polycystic kidney disease
Polycystic kidney disease 3 with or without polycystic liver disease

Criteria Provided
Conflicting Classifications

rs_1616940

15 SubmittersRCV000681747 RCV001095631 RCV001254281 RCV001292243 RCV000761328

NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)

SNV
Germline

Chr4:88038365

Pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
Polycystic kidney disease
PKD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_749004212

6 SubmittersRCV000681764 RCV000703336 RCV001535902 RCV001292054 RCV003420205

NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)

SNV
Germline

Chr4:88046647

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_1391596181

1 SubmittersRCV000695442

NM_000297.4(PKD2):c.994T>G (p.Ser332Ala)

SNV
Germline

Chr4:88038401

Conflicting classifications of pathogenicity

Condition: not provided
Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200314088

4 SubmittersRCV000756541 RCV001157037 RCV001399177 RCV002536562

NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)

SNV
Germline

Chr4:88067946

Pathogenic

Polycystic kidney disease 2
Polycystic kidney disease
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_778235410

8 SubmittersRCV000756535 RCV001292538 RCV001249119 RCV002533792

NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)

SNV
Germline

Chr16:2113267

Conflicting classifications of pathogenicity

Condition: not provided
Polycystic kidney disease
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1567208088

5 SubmittersRCV000757636 RCV001292068 RCV001254294

NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)

SNV
Germline

Chr4:88038488

Pathogenic/Likely pathogenic

Condition: not provided
Polycystic kidney disease 2
Polycystic kidney disease
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1578130676

10 SubmittersRCV000788690 RCV001000981 RCV001292537 RCV001869209

NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)

SNV
Germline

Chr16:2092500

Conflicting classifications of pathogenicity

Condition: not provided
Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease
Polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1327414405

8 SubmittersRCV000788943 RCV001095597 RCV001254256 RCV001292160

NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)

SNV
Germline

Chr16:2110616

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease
PKD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1238351274

4 SubmittersRCV000788822 RCV001844846 RCV003892704

NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)

SNV
Germline

Chr16:2117579

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1060499699

3 SubmittersRCV000788499 RCV003994117

NM_000297.4(PKD2):c.441G>A (p.Ala147=)

SNV
Germline

Chr4:88008174

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
PKD2-related disorder

Criteria Provided
Conflicting Classifications

rs_866815144

3 SubmittersRCV000860625 RCV001155349 RCV003948043

NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro)

SNV
Germline

Chr4:88075516

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_144590958

2 SubmittersRCV000868499 RCV001414324

NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)

SNV
Germline

Chr4:88046687

Pathogenic

Condition: not provided
Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
PKD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1578135870

5 SubmittersRCV000992622 RCV002488093 RCV002549800 RCV003413781

NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)

SNV
Germline

Chr16:2090191

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

rs_1282668884

4 SubmittersRCV000992559 RCV001356997 RCV001292454 RCV001536035

NM_001009944.3(PKD1):c.11017-10C>A

SNV
Germline

Chr16:2093103

Pathogenic/Likely pathogenic

Condition: not provided
Polycystic kidney disease
Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_555703777

5 SubmittersRCV000992548 RCV001292441 RCV002497287 RCV003229566

NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)

SNV
Germline

Chr4:88046642

Pathogenic/Likely pathogenic

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_886041114

7 SubmittersRCV001002301 RCV001221367 RCV003148910

NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)

SNV
Germline

Chr16:2105411

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Multiple Submitters
No Conflicts

rs_1452322332

6 SubmittersRCV001091876 RCV001254251 RCV001292442 RCV001252966

NM_000297.4(PKD2):c.9C>T (p.Asn3=)

SNV
Germline

Chr4:88007742

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Condition: not provided
Autosomal dominant polycystic kidney disease
PKD2-related disorder

Criteria Provided
Conflicting Classifications

rs_773343245

4 SubmittersRCV001151506 RCV001356949 RCV002070836 RCV003963096

NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys)

SNV
Germline

Chr4:88074957

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770609334

3 SubmittersRCV001157153 RCV001248566 RCV001655687

NM_000297.4(PKD2):c.752G>A (p.Arg251Gln)

SNV
Germline

Chr4:88036262

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147000344

2 SubmittersRCV001241961 RCV002564014

NM_001009944.3(PKD1):c.11712+1G>C

SNV
Germline

Chr16:2091422

Likely pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_2091571329

2 SubmittersRCV001249163 RCV001844854

NM_001009944.3(PKD1):c.7489+5G>A

SNV
Germline

Chr16:2106393

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease
PKD1-related disorder

Criteria Provided
Conflicting Classifications

rs_2092337963

2 SubmittersRCV001249110 RCV003229568 RCV003963153

NM_000297.4(PKD2):c.2118+1G>C

SNV
Germline

Chr4:88062005

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1720594399

2 SubmittersRCV001254252 RCV002284477

NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter)

SNV
Germline

Chr16:2099890

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_1415277933

1 SubmittersRCV001254317

NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter)

SNV
Germline

Chr16:2108633

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_1054011070

1 SubmittersRCV001254253

NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)

SNV
Germline

Chr16:2108826

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_2092427197

1 SubmittersRCV001254227

NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys)

SNV
Germline

Chr16:2103833

Conflicting classifications of pathogenicity

Polycystic kidney disease, adult type
PKD1-related disorder
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_202159463

3 SubmittersRCV001254607 RCV003918808 RCV003994247

NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)

SNV
Germline

Chr16:2113268

Conflicting classifications of pathogenicity

Polycystic kidney disease
Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1163700577

4 SubmittersRCV001270439 RCV002471077 RCV003229569

NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)

SNV
Germline

Chr4:88008289

Pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_1726258048

2 SubmittersRCV001288349 RCV001844856

NM_000297.4(PKD2):c.733A>C (p.Asn245His)

SNV
Germline

Chr4:88036243

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

rs_200543024

3 SubmittersRCV001288351 RCV001871709 RCV002486084

NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter)

SNV
Germline

Chr16:2111439

Pathogenic

Polycystic kidney disease
Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2092501974

3 SubmittersRCV001292541 RCV002275340 RCV003994255

NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala)

SNV
Germline

Chr4:88043291

Conflicting classifications of pathogenicity

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1331921848

3 SubmittersRCV001376138 RCV002550957 RCV004037625

NM_000297.4(PKD2):c.595+1G>A

SNV
Germline

Chr4:88008329

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_1578111778

1 SubmittersRCV001385677

NM_000297.4(PKD2):c.595+2T>C

SNV
Germline

Chr4:88008330

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_1018717398

1 SubmittersRCV001380588

NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)

SNV
Germline

Chr4:88038425

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2110107236

2 SubmittersRCV001382094 RCV002488201

NM_000297.4(PKD2):c.710-1G>A

SNV
Germline

Chr4:88036219

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2110104725

1 SubmittersRCV001844863

NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)

SNV
Germline

Chr6:52022821

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
not specified
Autosomal dominant polycystic kidney disease
Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_367970695

6 SubmittersRCV001751808 RCV003323914 RCV001844868 RCV003329410 RCV003502598

NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)

SNV
Germline

Chr16:2108612

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_755972713

1 SubmittersRCV001844969

NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)

SNV
Germline

Chr16:2114184

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_763199691

1 SubmittersRCV001844970

NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met)

SNV
Germline

Chr16:2111302

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_541552030

1 SubmittersRCV001844973

NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)

SNV
Germline

Chr16:2109488

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

No Assertion Criteria Provided

rs_2151792059

2 SubmittersRCV001844975 RCV003333768

NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)

SNV
Germline

Chr16:2108776

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151788244

1 SubmittersRCV001844978

NM_001009944.3(PKD1):c.11016+1G>A

SNV
Germline

Chr16:2093543

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151707040

1 SubmittersRCV001844980

NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)

SNV
Germline

Chr16:2100421

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2092047055

1 SubmittersRCV001844983

NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)

SNV
Germline

Chr16:2119316

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151826530

1 SubmittersRCV001844984

NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)

SNV
Germline

Chr16:2110102

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_534630703

1 SubmittersRCV001844989

NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)

SNV
Germline

Chr16:2097185

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Single Submitter

rs_1385274120

2 SubmittersRCV001844990 RCV002506716

NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)

SNV
Germline

Chr16:2097418

Likely pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Single Submitter

rs_2151726823

2 SubmittersRCV001844991 RCV003446858

NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)

SNV
Germline

Chr16:2103694

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_761060813

1 SubmittersRCV001844993

NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)

SNV
Germline

Chr16:2118352

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_1567218351

1 SubmittersRCV001844995

NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)

SNV
Germline

Chr16:2100267

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_1596513913

1 SubmittersRCV001844998

NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)

SNV
Germline

Chr16:2111421

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2092501507

1 SubmittersRCV001844999

NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)

SNV
Germline

Chr16:2091788

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151697614

1 SubmittersRCV001845002

NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)

SNV
Germline

Chr16:2091866

Likely pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Single Submitter

rs_2151698069

2 SubmittersRCV001845003 RCV002477881

NM_001009944.3(PKD1):c.9569-1G>C

SNV
Germline

Chr16:2100310

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151741177

1 SubmittersRCV001845005

NM_001009944.3(PKD1):c.9398-2A>G

SNV
Germline

Chr16:2100568

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151742515

1 SubmittersRCV001845006

NM_001009944.3(PKD1):c.7065+2T>G

SNV
Germline

Chr16:2107881

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151783529

1 SubmittersRCV001845008

NM_001009944.3(PKD1):c.6915+1G>A

SNV
Germline

Chr16:2108251

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151785467

1 SubmittersRCV001845009

NM_001009944.3(PKD1):c.359+3A>T

SNV
Germline

Chr16:2119111

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151826018

1 SubmittersRCV001845010

NM_001009944.3(PKD1):c.11270-1G>A

SNV
Germline

Chr16:2092189

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2151700092

1 SubmittersRCV001845012

NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)

SNV
Germline

Chr4:88068047

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
PKD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_757682666

3 SubmittersRCV001845013 RCV002477882 RCV003984042

NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)

SNV
Germline

Chr4:88043241

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2110112018

1 SubmittersRCV001845014

NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)

SNV
Germline

Chr4:88061948

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_2110134005

1 SubmittersRCV001845018

NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)

SNV
Germline

Chr4:88038267

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

rs_1727413505

1 SubmittersRCV001845020

NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)

SNV
Germline

Chr4:88046688

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_2110115819

1 SubmittersRCV001945143

NM_000297.4(PKD2):c.2399T>C (p.Met800Thr)

SNV
Germline

Chr4:88067938

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376271163

2 SubmittersRCV001926922 RCV004044284

NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn)

SNV
Germline

Chr4:88038440

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

rs_1485588385

1 SubmittersRCV002031774

NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile)

SNV
Germline

Chr4:88043361

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148386297

2 SubmittersRCV001967316 RCV003167325

NM_000297.4(PKD2):c.640G>T (p.Glu214Ter)

SNV
Germline

Chr4:88019502

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2110089248

2 SubmittersRCV001958713 RCV002479589

NM_000297.4(PKD2):c.843G>A (p.Lys281=)

SNV
Germline

Chr4:88036353

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Condition: not provided
PKD2-related disorder

Criteria Provided
Conflicting Classifications

rs_1727333486

3 SubmittersRCV002003620 RCV002463091 RCV003434379

NM_001009944.3(PKD1):c.11017-25A>C

SNV
Germline

Chr16:2093118

Conflicting classifications of pathogenicity

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_2151704874

2 SubmittersRCV002273050 RCV003229570

NM_001009944.3(PKD1):c.11017-25A>G

SNV
Germline

Chr16:2093118

Likely pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002471290 RCV003229571

NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)

SNV
Germline

Chr16:2115484

Conflicting classifications of pathogenicity

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002468949 RCV003229573

NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)

SNV
Germline

Chr16:2097917

Pathogenic/Likely pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002471292 RCV003229574

NM_001009944.3(PKD1):c.215+2T>G

SNV
Germline

Chr16:2135473

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002463868

NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)

SNV
Germline

Chr4:88046843

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002651834

NM_000297.4(PKD2):c.1095-2A>T

SNV
Germline

Chr4:88043231

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002594444

NM_000297.4(PKD2):c.2020-2A>G

SNV
Germline

Chr4:88061904

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002736013

NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)

SNV
Germline

Chr4:88056233

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
PKD2-related disorder
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002850961 RCV003427509 RCV003989789

NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)

SNV
Germline

Chr4:88007941

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003007779

NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)

SNV
Germline

Chr4:88056144

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003020531

NM_000297.4(PKD2):c.2118+2T>C

SNV
Germline

Chr4:88062006

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003584255

NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)

SNV
Germline

Chr4:88056212

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003747172

NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter)

SNV
Germline

Chr16:2103454

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003994731 RCV004565962