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	4 SubmittersRCV000008684 RCV003993740
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)	SNV Germline	Chr4:88065479	Pathogenic	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123160	rs_121918040	10 SubmittersRCV000014473 RCV000654888 RCV000518276
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	11 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 Polycystic kidney disease Renal cyst Polycystic kidney disease 9, susceptibility to Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA129886	rs_376586707	13 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 RCV004760343 RCV004786282 RCV005255556 RCV003993751
NM_000297.4(PKD2):c.1899-6T>G	SNV Germline	Chr4:88057977	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA220614	rs_398123306	2 SubmittersRCV000078580 RCV001854384
NM_000297.4(PKD2):c.709+1G>A	SNV Germline	Chr4:88019572	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA220617	rs_398123308	6 SubmittersRCV000078584 RCV001292113 RCV003584550 RCV002470757
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	SNV Germline	Chr6:52048558	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided PKHD1-related disorder Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA224056	rs_398124478	20 SubmittersRCV000176433 RCV001262428 RCV000788487 RCV004748567 RCV001844805
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 Osteogenesis imperfecta Autosomal dominant osteopetrosis 1 Autosomal dominant polycystic kidney disease LRP5-related disorder	Criteria Provided Conflicting Classifications	CA210921	rs_61889560	17 SubmittersRCV000162089 RCV000174732 RCV000765011 RCV000767146 RCV002277317 RCV001260288 RCV001844811 RCV004724952
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 PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease	Criteria Provided Multiple Submitters No Conflicts	CA347279	rs_148812376	12 SubmittersRCV000192215 RCV000497386 RCV001254214 RCV005431518
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)	SNV Germline	Chr4:88075633	Conflicting classifications of pathogenicity	Condition: not provided PKD2-related disorder Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA240436	rs_749666891	3 SubmittersRCV000174840 RCV003975278 RCV002056924
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)	SNV Germline	Chr4:88046767	Conflicting classifications of pathogenicity	not specified Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Condition: not provided Polycystic kidney disease	Criteria Provided Conflicting Classifications	CA350573	rs_75762896	12 SubmittersRCV000244662 RCV001001706 RCV001080594 RCV000712679 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 Joubert syndrome 7 Polycystic kidney disease Condition: not provided Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA348383	rs_2234917	12 SubmittersRCV000204140 RCV000253113 RCV001258257 RCV001292230 RCV001705172 RCV001000584
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 Polycystic kidney disease Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 PKD2-related disorder	Criteria Provided Conflicting Classifications	CA3003802	rs_138132026	8 SubmittersRCV000384588 RCV000863295 RCV001292418 RCV001088117 RCV001157035 RCV003949899
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)	SNV Germline	Chr4:88067950	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA3004246	rs_145343957	10 SubmittersRCV000405309 RCV000755622 RCV001084804 RCV001292453 RCV001157152
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	4 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	Multiple renal cysts Hypertensive disorder 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	21 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 PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16609391	rs_200001068	16 SubmittersRCV000449565 RCV000681703 RCV001292151 RCV001861649 RCV004752900
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	14 SubmittersRCV000456934 RCV000517676 RCV001000019 RCV003352876
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)	SNV Germline	Chr16:2089956	Likely pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA16621682	rs_1064797205	3 SubmittersRCV000488250 RCV005250060 RCV005010402
NM_000297.4(PKD2):c.1319+1G>A	SNV Germline	Chr4:88043458	Pathogenic/Likely pathogenic	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Inborn genetic diseases Condition: not provided Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA357616589	rs_1131692280	12 SubmittersRCV000496001 RCV000542204 RCV000622691 RCV000992621 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.12010C>T (p.Gln4004Ter)	SNV Germline	Chr16:2090802	Pathogenic	Polycystic kidney disease Condition: not provided Polycystic kidney disease, adult type PKD1-related disorder Autosomal dominant polycystic kidney disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA7828876	rs_766551411	12 SubmittersRCV000504063 RCV000681726 RCV001536116 RCV004740271 RCV004760536 RCV004955549
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 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA394373464	rs_1555454411	15 SubmittersRCV000500237 RCV000508539 RCV000681684 RCV001526541 RCV002289687 RCV004955548
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)	SNV Germline	Chr16:2116856	Pathogenic	Autosomal dominant polycystic kidney disease PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease PKD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA394391699	rs_750798165	3 SubmittersRCV000504528 RCV005407657 RCV003403159
NM_000297.4(PKD2):c.595+15C>T	SNV Germline	Chr4:88008343	Conflicting classifications of pathogenicity	not specified Polycystic kidney disease 2 Condition: not provided Polycystic kidney disease Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3003733	rs_559555727	5 SubmittersRCV000507327 RCV001155351 RCV001561763 RCV001292346 RCV002056911
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	Polycystic kidney disease, adult type not specified Condition: not provided Polycystic kidney disease Autosomal dominant polycystic kidney disease PKD1-related disorder	Criteria Provided Conflicting Classifications	CA7830069	rs_139945204	11 SubmittersRCV000735684 RCV005407664 RCV000710171 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	15 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 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA3004304	rs_755226061	17 SubmittersRCV000518186 RCV000763531 RCV001236356 RCV001292360 RCV004659079
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	9 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 Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA276756583	rs_972049140	5 SubmittersRCV000517600 RCV001254275 RCV001576333 RCV003925547 RCV005398740
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)	SNV Germline	Chr4:88038464	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA100891463	rs_375164861	3 SubmittersRCV000527486 RCV000764555 RCV002527942
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357622723	rs_1553926905	7 SubmittersRCV000556150 RCV001292157 RCV001331141 RCV004592608
NM_000297.4(PKD2):c.2019+1G>A	SNV Germline	Chr4:88058104	Pathogenic	Autosomal dominant polycystic kidney disease Condition: not provided PKD2-related disorder Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA357623301	rs_1553927080	7 SubmittersRCV000540659 RCV000992623 RCV003403342 RCV001280901
NM_000297.4(PKD2):c.2241-14C>T	SNV Germline	Chr4:88065748	Conflicting classifications of pathogenicity	Multiple renal cysts Hydrocele testis 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 PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3004284	rs_369678636	9 SubmittersRCV000627205 RCV000763530 RCV001292154 RCV002529806 RCV004752975
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 Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA10575461	rs_1302726543	9 SubmittersRCV000654889 RCV000681770 RCV001292056 RCV000763529
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)	SNV Germline	Chr4:88043387	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease Biliary tract abnormality	Criteria Provided Multiple Submitters No Conflicts	CA357615936	rs_1324209174	19 SubmittersRCV000681683 RCV001292055 RCV001281322 RCV001861899 RCV005626151
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)	SNV Germline	Chr16:2106599	Pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease Polycystic kidney disease, adult type PKD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA276779725	rs_2432403	9 SubmittersRCV000681700 RCV001254314 RCV001292446 RCV000763373 RCV004740404
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	CA3003966	rs_752024467	4 SubmittersRCV000681723 RCV001868310 RCV002499203
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	SNV Germline	Chr16:2114843	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 3 with or without polycystic liver disease Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA276782871	rs_1616940	21 SubmittersRCV000681747 RCV000761328 RCV001095631 RCV001254281 RCV001292243
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)	SNV Germline	Chr4:88038365	Pathogenic	Condition: not provided Polycystic kidney disease 2 Polycystic kidney disease Autosomal dominant polycystic kidney disease PKD2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3003848	rs_749004212	7 SubmittersRCV000681764 RCV001535902 RCV001292054 RCV000703336 RCV003420205
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter)	SNV Germline	Chr4:88046647	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA357618391	rs_1391596181	1 SubmittersRCV000695442
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)	SNV Germline	Chr16:2106810	Pathogenic	Condition: not provided Polycystic kidney disease Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394371426	rs_1567186946	9 SubmittersRCV000712646 RCV001292115 RCV001281267 RCV005250103
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	CA3003856	rs_200314088	5 SubmittersRCV000756541 RCV001157037 RCV001399177 RCV002536562
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)	SNV Germline	Chr4:88067946	Pathogenic	Polycystic kidney disease 2 Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease PKD2-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA3004244	rs_778235410	11 SubmittersRCV000756535 RCV001249119 RCV002533792 RCV001292538 RCV004753027 RCV005463117
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)	SNV Germline	Chr16:2113267	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease	Criteria Provided Conflicting Classifications	CA394385763	rs_1567208088	5 SubmittersRCV000757636 RCV001254294 RCV001292068
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)	SNV Germline	Chr16:2118330	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA394394665	rs_1567218310	5 SubmittersRCV000757634 RCV001254297 RCV005021146
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)	SNV Germline	Chr16:1526057	Likely pathogenic	Condition: not provided Retinitis pigmentosa 80 Saldino-Mainzer syndrome Autosomal dominant polycystic kidney disease IFT140-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7813557	rs_144513458	4 SubmittersRCV000760741 RCV002500984 RCV005250107 RCV004753029
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)	SNV Germline	Chr4:88038488	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease PKD2-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA357633267	rs_1578130676	16 SubmittersRCV000788690 RCV001292537 RCV001000981 RCV001869209 RCV004753041 RCV005384849
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 Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA394379730	rs_1238351274	6 SubmittersRCV000788822 RCV001844846 RCV003892704 RCV005021189
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)	SNV Germline	Chr16:2117579	Conflicting classifications of pathogenicity	Condition: not provided PKD1-related disorder Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA394392620	rs_1060499699	8 SubmittersRCV000788499 RCV004740449 RCV003994117 RCV004594118
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)	SNV Germline	Chr16:2118018	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease Biliary tract abnormality	Criteria Provided Conflicting Classifications	CA394393654	rs_1232180956	8 SubmittersRCV000788578 RCV001292501 RCV001095567 RCV004760785 RCV005626213
NM_001009944.3(PKD1):c.1202-9G>A	SNV Germline	Chr16:2117681	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA915949032	rs_1596588606	5 SubmittersRCV000788955 RCV002501034 RCV005367552
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	CA100873246	rs_866815144	3 SubmittersRCV000860625 RCV001155349 RCV003948043
NM_000297.4(PKD2):c.2754C>T (p.Ser918=)	SNV Germline	Chr4:88075541	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA3004353	rs_748855749	2 SubmittersRCV002538924 RCV005036245
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	CA3004348	rs_144590958	2 SubmittersRCV000868499 RCV001414324
NM_000297.4(PKD2):c.531C>T (p.His177=)	SNV Germline	Chr4:88008264	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA100873335	rs_895731667	2 SubmittersRCV002539127 RCV004768728
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)	SNV Germline	Chr4:88046687	Pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease PKD2-related disorder Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA357618629	rs_1578135870	5 SubmittersRCV000992622 RCV002549800 RCV003413781 RCV002488093
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	SNV Germline	Chr16:2090191	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type PKD1-related disorder	Criteria Provided Conflicting Classifications	CA394322901	rs_1282668884	6 SubmittersRCV000992559 RCV001292454 RCV001356997 RCV001536035 RCV004740532
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 PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease PKD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA915948999	rs_555703777	8 SubmittersRCV000992548 RCV001292441 RCV002497287 RCV003229566 RCV005418948 RCV004740531
NM_001009944.3(PKD1):c.1723-1G>A	SNV Germline	Chr16:2116119	Pathogenic	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394391330	rs_1596582948	4 SubmittersRCV000992564 RCV001002438 RCV005359726
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	CA357618352	rs_886041114	8 SubmittersRCV001002301 RCV001221367 RCV003148910
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter)	SNV Germline	Chr4:88008028	Pathogenic/Likely pathogenic	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA357626067	rs_1578111378	3 SubmittersRCV001027652 RCV005093295
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)	SNV Germline	Chr4:88058072	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 PKD2-related disorder	Criteria Provided Conflicting Classifications	CA357623228	rs_1720430638	3 SubmittersRCV001039347 RCV002479250 RCV003405223
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	SNV Germline	Chr16:2105411	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease Polycystic kidney disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA394366122	rs_1452322332	7 SubmittersRCV001091876 RCV001252966 RCV001254251 RCV001292442 RCV005453166
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)	SNV Germline	Chr16:2105435	Pathogenic/Likely pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394366215	rs_778979740	3 SubmittersRCV001095592 RCV005250137
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	CA3003708	rs_773343245	4 SubmittersRCV001151506 RCV001356949 RCV002070836 RCV003963096
NM_000297.4(PKD2):c.945G>A (p.Leu315=)	SNV Germline	Chr4:88038352	Conflicting classifications of pathogenicity	Polycystic kidney disease 2 PKD2-related disorder Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3003846	rs_201789789	3 SubmittersRCV001157036 RCV003908408 RCV005093665
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	CA3004309	rs_770609334	3 SubmittersRCV001157153 RCV001248566 RCV001655687
NM_000297.4(PKD2):c.198C>A (p.Asp66Glu)	SNV Germline	Chr4:88007931	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA100873075	rs_988396505	4 SubmittersRCV001235036 RCV004960605 RCV005036513
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	CA3003794	rs_147000344	2 SubmittersRCV001241961 RCV002564014
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)	SNV Germline	Chr16:2112433	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	CA394383682	rs_2092538738	6 SubmittersRCV001249161 RCV001292117 RCV002273845 RCV005250164
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	CA394331628	rs_2091571329	2 SubmittersRCV001249163 RCV001844854
NM_001009944.3(PKD1):c.7489+5G>A	SNV Germline	Chr16:2106393	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease, adult type PKD1-related disorder Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA1139664384	rs_2092337963	4 SubmittersRCV001249110 RCV004594256 RCV003963153 RCV003229568
NM_001009944.3(PKD1):c.12444+1G>A	SNV Germline	Chr16:2090284	Pathogenic	Polycystic kidney disease, adult type Polycystic kidney disease Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394324476	rs_2091431794	4 SubmittersRCV001251474 RCV001292153 RCV004697092 RCV005250166
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	CA357623896	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	CA394352966	rs_1415277933	1 SubmittersRCV001254317
NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met)	SNV Germline	Chr16:2100258	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease not specified Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA7829997	rs_200214266	3 SubmittersRCV001254210 RCV005236739 RCV005360002
NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg)	SNV Germline	Chr16:2103850	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease PKD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7830611	rs_760592410	4 SubmittersRCV001254244 RCV001292271 RCV003908477 RCV004794520
NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys)	SNV Germline	Chr16:2106665	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA7831215	rs_538769374	2 SubmittersRCV001254300 RCV005014312
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter)	SNV Germline	Chr16:2108633	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA394373368	rs_1054011070	1 SubmittersRCV001254253
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)	SNV Germline	Chr16:2108826	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Condition: not provided PKD1-related disorder	Criteria Provided Conflicting Classifications	CA394373750	rs_2092427197	3 SubmittersRCV001254227 RCV004699240 RCV004740639
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys)	SNV Germline	Chr16:2103833	Conflicting classifications of pathogenicity	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease PKD1-related disorder	Criteria Provided Conflicting Classifications	CA7830604	rs_202159463	4 SubmittersRCV001254607 RCV003994247 RCV003918808
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA394385768	rs_1163700577	5 SubmittersRCV001270439 RCV002471077 RCV003229569 RCV005256760
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)	SNV Germline	Chr4:88008289	Pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA357627124	rs_1726258048	4 SubmittersRCV001288349 RCV001844856 RCV004789516
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 Inborn genetic diseases Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA3003789	rs_200543024	4 SubmittersRCV001288351 RCV001871709 RCV004960680 RCV002486084
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)	SNV Germline	Chr16:2109244	Pathogenic	Polycystic kidney disease Condition: not provided Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA394375036	rs_2092439541	4 SubmittersRCV001292111 RCV002274180 RCV005232244 RCV001535989
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	CA394382487	rs_2092501974	3 SubmittersRCV001292541 RCV002275340 RCV003994255
NM_000297.4(PKD2):c.2358+5G>A	SNV Germline	Chr4:88065884	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA1474588160	rs_1720774022	2 SubmittersRCV001323620 RCV002476522
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)	SNV Germline	Chr16:2109384	Conflicting classifications of pathogenicity	Polycystic kidney disease, adult type not specified Autosomal dominant polycystic kidney disease Condition: not provided PKD1-related disorder Hereditary ataxia	Criteria Provided Conflicting Classifications	CA7831859	rs_201991587	8 SubmittersRCV002499711 RCV003151306 RCV001355886 RCV001573466 RCV004728664 RCV005626414
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	CA357615518	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	CA357627250	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	CA357627252	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	CA357633020	rs_2110107236	3 SubmittersRCV001382094 RCV002488201
NM_000297.4(PKD2):c.1717-7C>T	SNV Germline	Chr4:88056079	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2 Kidney failure	Criteria Provided Conflicting Classifications	CA3004038	rs_201267638	3 SubmittersRCV001495187 RCV002495749 RCV005626432
NM_000297.4(PKD2):c.710-1G>A	SNV Germline	Chr4:88036219	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA357630870	rs_2110104725	1 SubmittersRCV001844863
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)	SNV Germline	Chr6:52022821	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 4 not specified Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA138944411	rs_367970695	7 SubmittersRCV001844868 RCV001751808 RCV003323914 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	CA394373321	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	CA7833078	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	CA7832608	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	CA394375927	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	CA394373652	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	CA394338406	rs_2151707040	1 SubmittersRCV001844980
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)	SNV Germline	Chr16:2100421	Likely pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Single Submitter	CA394355932	rs_2092047055	2 SubmittersRCV001844983 RCV005005988
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)	SNV Germline	Chr16:2119316	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA394396143	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	CA394378335	rs_534630703	1 SubmittersRCV001844989
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)	SNV Germline	Chr16:2097185	Pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394344432	rs_1385274120	3 SubmittersRCV002506716 RCV001844990
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	CA394346793	rs_2151726823	2 SubmittersRCV001844991 RCV003446858
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)	SNV Germline	Chr16:2118352	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA394394748	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	CA394355381	rs_1596513913	1 SubmittersRCV001844998
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)	SNV Germline	Chr16:2091788	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA394332405	rs_2151697614	1 SubmittersRCV001845002
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)	SNV Germline	Chr16:2091866	Likely pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA394333218	rs_2151698069	2 SubmittersRCV002477881 RCV001845003
NM_001009944.3(PKD1):c.9569-1G>C	SNV Germline	Chr16:2100310	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA394355635	rs_2151741177	1 SubmittersRCV001845005
NM_001009944.3(PKD1):c.9398-2A>G	SNV Germline	Chr16:2100568	Pathogenic/Likely pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA394356715	rs_2151742515	3 SubmittersRCV001845006 RCV004796648
NM_001009944.3(PKD1):c.7065+2T>G	SNV Germline	Chr16:2107881	Pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA394372306	rs_2151783529	1 SubmittersRCV001845008
NM_001009944.3(PKD1):c.6915+1G>A	SNV Germline	Chr16:2108251	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394372630	rs_2151785467	3 SubmittersRCV001845009 RCV005005989 RCV004720930
NM_001009944.3(PKD1):c.359+3A>T	SNV Germline	Chr16:2119111	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA2573054193	rs_2151826018	1 SubmittersRCV001845010
NM_001009944.3(PKD1):c.11270-1G>A	SNV Germline	Chr16:2092189	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA394335087	rs_2151700092	3 SubmittersRCV001845012 RCV004587193
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)	SNV Germline	Chr4:88068047	Pathogenic	Polycystic kidney disease 2 PKD2-related disorder Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA357627139	rs_757682666	3 SubmittersRCV002477882 RCV003984042 RCV001845013
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)	SNV Germline	Chr4:88043241	Likely pathogenic	Autosomal dominant polycystic kidney disease	No Assertion Criteria Provided	CA357615375	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	CA357623671	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	CA357632287	rs_1727413505	1 SubmittersRCV001845020
NM_001009944.3(PKD1):c.2853+1G>A	SNV Germline	Chr16:2114169	Pathogenic	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394386599	rs_2151812559	3 SubmittersRCV001726978 RCV002477903 RCV005361702
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)	SNV Germline	Chr16:2100280	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA394355458	rs_1422698524	3 SubmittersRCV001765459 RCV002506774 RCV003458176
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)	SNV Germline	Chr11:111837577	Conflicting classifications of pathogenicity	Condition: not provided ALG9 congenital disorder of glycosylation ALG9-associated autosomal dominant polycystic kidney disease Gillessen-Kaesbach-Nishimura syndrome ALG9 congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA382592688	rs_782775735	4 SubmittersRCV001771540 RCV002471150 RCV004785307 RCV005040363
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)	SNV Germline	Chr4:88046688	Pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA357618643	rs_2110115819	2 SubmittersRCV001945143 RCV004594606
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	CA3004241	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	CA357633064	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	CA3003905	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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357628347	rs_2110089248	4 SubmittersRCV001958713 RCV002479589 RCV004699588
NM_000297.4(PKD2):c.843G>A (p.Lys281=)	SNV Germline	Chr4:88036353	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease PKD2-related disorder Condition: not provided Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA440269264	rs_1727333486	6 SubmittersRCV002003620 RCV003434379 RCV002463091 RCV005042645
NM_000297.4(PKD2):c.710-11C>A	SNV Germline	Chr4:88036209	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA3003777	rs_764334983	3 SubmittersRCV002171141 RCV005032170
NM_001009944.3(PKD1):c.11017-25A>C	SNV Germline	Chr16:2093118	Likely pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA2573130392	rs_2151704874	2 SubmittersRCV002273050 RCV003229570
NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter)	SNV Germline	Chr16:2090562	Pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394326645	rs_2151682538	2 SubmittersRCV002273850 RCV005250240
NM_001009944.3(PKD1):c.11017-25A>G	SNV Germline	Chr16:2093118	Likely pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA2573050757	rs_2151704874	2 SubmittersRCV003229571 RCV002471290
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	CA394389749	rs_781018494	3 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	CA394348407	rs_373222937	2 SubmittersRCV002471292 RCV003229574
NM_001009944.3(PKD1):c.215+2T>G	SNV Germline	Chr16:2135473	Pathogenic/Likely pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Multiple Submitters No Conflicts	CA394282105	rs_2544960078	2 SubmittersRCV002463868 RCV005419462
NM_000297.4(PKD2):c.274C>T (p.Pro92Ser)	SNV Germline	Chr4:88008007	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease PKD2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA100873113	rs_940758517	3 SubmittersRCV003074890 RCV003898756 RCV004654121
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)	SNV Germline	Chr4:88046843	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA3003958	rs_747688660	1 SubmittersRCV002651834
NM_000297.4(PKD2):c.1095-2A>T	SNV Germline	Chr4:88043231	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA357615314	rs_2475915193	1 SubmittersRCV002594444
NM_000297.4(PKD2):c.2020-2A>G	SNV Germline	Chr4:88061904	Likely pathogenic	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA357623473	rs_2475970000	2 SubmittersRCV002736013 RCV005034394
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)	SNV Germline	Chr4:88056233	Conflicting classifications of pathogenicity	PKD2-related disorder Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA357622924	rs_2475954193	3 SubmittersRCV003427509 RCV002850961 RCV003989789
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)	SNV Germline	Chr4:88007941	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA357625720	rs_1726233533	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	CA357622726	rs_1445590170	1 SubmittersRCV003020531
NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)	SNV Germline	Chr4:88061928	Conflicting classifications of pathogenicity	Inborn genetic diseases Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA100880478	rs_199723110	3 SubmittersRCV002730045 RCV003746656 RCV005036628
NM_000297.4(PKD2):c.503T>C (p.Val168Ala)	SNV Germline	Chr4:88008236	Conflicting classifications of pathogenicity	Inborn genetic diseases Autosomal dominant polycystic kidney disease	Criteria Provided Conflicting Classifications	CA357626916	rs_2476358625	2 SubmittersRCV003255744 RCV005102598
NM_001009944.3(PKD1):c.7489+1G>A	SNV Germline	Chr16:2106397	Pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394369341	rs_2544779978	2 SubmittersRCV003327730 RCV005356399
NM_001009944.3(PKD1):c.7209+1G>C	SNV Germline	Chr16:2106804	Likely pathogenic	Condition: not provided Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA394371406	rs_2544784172	2 SubmittersRCV003456911 RCV005250310
NM_000297.4(PKD2):c.2118+2T>C	SNV Germline	Chr4:88062006	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter	CA357623906	rs_2475970459	1 SubmittersRCV003584255
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)	SNV Germline	Chr4:88056212	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA357622877	rs_1216272782	2 SubmittersRCV003747172 RCV004594707
NM_000297.4(PKD2):c.2729G>A (p.Arg910His)	SNV Germline	Chr4:88075516	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease not specified Polycystic kidney disease 2	Criteria Provided Conflicting Classifications	CA3004349	rs_144590958	3 SubmittersRCV003746127 RCV005407215 RCV005036943
NM_001009944.3(PKD1):c.529+5G>A	SNV Germline	Chr16:2118671	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA2579754022	rs_2544882689	2 SubmittersRCV003994659 RCV005414716
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	CA394362673	rs_901163374	2 SubmittersRCV003994731 RCV004565962
NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met)	SNV Germline	Chr16:2116578	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease not specified Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA7833454	rs_781572938	3 SubmittersRCV003994734 RCV005433501 RCV005006354
NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)	SNV Germline	Chr16:2100461	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV004764392
NM_000297.4(PKD2):c.354G>A (p.Trp118Ter)	SNV Germline	Chr4:88008087	Pathogenic	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004788586 RCV005250372
NM_001009944.3(PKD1):c.12003+1G>T	SNV Germline	Chr16:2090883	Pathogenic	Polycystic kidney disease, adult type Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005019885 RCV005365369
NM_000297.4(PKD2):c.2522+1G>A	SNV Germline	Chr4:88068062	Pathogenic/Likely pathogenic	Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005043056 RCV005112859
NM_000297.4(PKD2):c.2326C>T (p.Gln776Ter)	SNV Germline	Chr4:88065847	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005066731
NM_000297.4(PKD2):c.1044C>G (p.Tyr348Ter)	SNV Germline	Chr4:88038451	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005118531
NM_000297.4(PKD2):c.2236A>T (p.Lys746Ter)	SNV Germline	Chr4:88065491	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005135083
NM_000297.4(PKD2):c.2079G>A (p.Gln693=)	SNV Germline	Chr4:88061965	Conflicting classifications of pathogenicity	Autosomal dominant polycystic kidney disease Polycystic kidney disease 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV005192172 RCV005393000
NM_001009944.3(PKD1):c.6065C>A (p.Ser2022Ter)	SNV Germline	Chr16:2109102	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005250426
NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)	SNV Germline	Chr16:2115406	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005251015
NM_001009944.3(PKD1):c.11016+2T>C	SNV Germline	Chr16:2093542	Likely pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005362360
NM_001009944.3(PKD1):c.7210-2A>G	SNV Germline	Chr16:2106679	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005362472
NM_000297.4(PKD2):c.1548+2T>G	SNV Germline	Chr4:88046872	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005356629
NM_024740.2(ALG9):c.761G>A (p.Trp254Ter)	SNV Germline	Chr11:111853677	Pathogenic	Autosomal dominant polycystic kidney disease	Criteria Provided Single Submitter			1 SubmittersRCV005415317

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

4 SubmittersRCV000008684 RCV003993740

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

SNV
Germline

Chr4:88065479

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123160

rs_121918040

10 SubmittersRCV000014473 RCV000654888 RCV000518276

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

11 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
Polycystic kidney disease
Renal cyst
Polycystic kidney disease 9, susceptibility to
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA129886

rs_376586707

13 SubmittersRCV000024360 RCV000515584 RCV001075306 RCV001536095 RCV001818178 RCV003924859 RCV004760343 RCV004786282 RCV005255556 RCV003993751

NM_000297.4(PKD2):c.1899-6T>G

SNV
Germline

Chr4:88057977

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA220614

rs_398123306

2 SubmittersRCV000078580 RCV001854384

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

SNV
Germline

Chr4:88019572

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220617

rs_398123308

6 SubmittersRCV000078584 RCV001292113 RCV003584550 RCV002470757

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

SNV
Germline

Chr6:52048558

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Condition: not provided
PKHD1-related disorder
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA224056

rs_398124478

20 SubmittersRCV000176433 RCV001262428 RCV000788487 RCV004748567 RCV001844805

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
Osteogenesis imperfecta
Autosomal dominant osteopetrosis 1
Autosomal dominant polycystic kidney disease
LRP5-related disorder

Criteria Provided
Conflicting Classifications

CA210921

rs_61889560

17 SubmittersRCV000162089 RCV000174732 RCV000765011 RCV000767146 RCV002277317 RCV001260288 RCV001844811 RCV004724952

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
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Multiple Submitters
No Conflicts

CA347279

rs_148812376

12 SubmittersRCV000192215 RCV000497386 RCV001254214 RCV005431518

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

SNV
Germline

Chr4:88075633

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240436

rs_749666891

3 SubmittersRCV000174840 RCV003975278 RCV002056924

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

SNV
Germline

Chr4:88046767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350573

rs_75762896

12 SubmittersRCV000244662 RCV001001706 RCV001080594 RCV000712679 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
Joubert syndrome 7
Polycystic kidney disease
Condition: not provided
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA348383

rs_2234917

12 SubmittersRCV000204140 RCV000253113 RCV001258257 RCV001292230 RCV001705172 RCV001000584

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

Criteria Provided
Conflicting Classifications

CA3003802

rs_138132026

8 SubmittersRCV000384588 RCV000863295 RCV001292418 RCV001088117 RCV001157035 RCV003949899

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

SNV
Germline

Chr4:88067950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3004246

rs_145343957

10 SubmittersRCV000405309 RCV000755622 RCV001084804 RCV001292453 RCV001157152

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

4 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

Multiple renal cysts
Hypertensive disorder
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

21 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
PKD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16609391

rs_200001068

16 SubmittersRCV000449565 RCV000681703 RCV001292151 RCV001861649 RCV004752900

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

14 SubmittersRCV000456934 RCV000517676 RCV001000019 RCV003352876

NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro)

SNV
Germline

Chr16:2089956

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621682

rs_1064797205

3 SubmittersRCV000488250 RCV005250060 RCV005010402

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

SNV
Germline

Chr4:88043458

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357616589

rs_1131692280

12 SubmittersRCV000496001 RCV000542204 RCV000622691 RCV000992621 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.12010C>T (p.Gln4004Ter)

SNV
Germline

Chr16:2090802

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7828876

rs_766551411

12 SubmittersRCV000504063 RCV000681726 RCV001536116 RCV004740271 RCV004760536 RCV004955549

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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA394373464

rs_1555454411

15 SubmittersRCV000500237 RCV000508539 RCV000681684 RCV001526541 RCV002289687 RCV004955548

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

SNV
Germline

Chr16:2116856

Pathogenic

Autosomal dominant polycystic kidney disease
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
PKD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA394391699

rs_750798165

3 SubmittersRCV000504528 RCV005407657 RCV003403159

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

SNV
Germline

Chr4:88008343

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3003733

rs_559555727

5 SubmittersRCV000507327 RCV001155351 RCV001561763 RCV001292346 RCV002056911

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

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

Criteria Provided
Conflicting Classifications

CA7830069

rs_139945204

11 SubmittersRCV000735684 RCV005407664 RCV000710171 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

15 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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3004304

rs_755226061

17 SubmittersRCV000518186 RCV000763531 RCV001236356 RCV001292360 RCV004659079

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

9 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
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

CA276756583

rs_972049140

5 SubmittersRCV000517600 RCV001254275 RCV001576333 RCV003925547 RCV005398740

NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys)

SNV
Germline

Chr4:88038464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA100891463

rs_375164861

3 SubmittersRCV000527486 RCV000764555 RCV002527942

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357622723

rs_1553926905

7 SubmittersRCV000556150 RCV001292157 RCV001331141 RCV004592608

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

SNV
Germline

Chr4:88058104

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357623301

rs_1553927080

7 SubmittersRCV000540659 RCV000992623 RCV003403342 RCV001280901

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

SNV
Germline

Chr4:88065748

Conflicting classifications of pathogenicity

Multiple renal cysts
Hydrocele testis
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
PKD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3004284

rs_369678636

9 SubmittersRCV000627205 RCV000763530 RCV001292154 RCV002529806 RCV004752975

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
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10575461

rs_1302726543

9 SubmittersRCV000654889 RCV000681770 RCV001292056 RCV000763529

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

SNV
Germline

Chr4:88043387

Pathogenic/Likely pathogenic

Condition: not provided
Polycystic kidney disease
Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease
Biliary tract abnormality

Criteria Provided
Multiple Submitters
No Conflicts

CA357615936

rs_1324209174

19 SubmittersRCV000681683 RCV001292055 RCV001281322 RCV001861899 RCV005626151

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

SNV
Germline

Chr16:2106599

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276779725

rs_2432403

9 SubmittersRCV000681700 RCV001254314 RCV001292446 RCV000763373 RCV004740404

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

CA3003966

rs_752024467

4 SubmittersRCV000681723 RCV001868310 RCV002499203

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

SNV
Germline

Chr16:2114843

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276782871

rs_1616940

21 SubmittersRCV000681747 RCV000761328 RCV001095631 RCV001254281 RCV001292243

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

SNV
Germline

Chr4:88038365

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3003848

rs_749004212

7 SubmittersRCV000681764 RCV001535902 RCV001292054 RCV000703336 RCV003420205

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

SNV
Germline

Chr4:88046647

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

CA357618391

rs_1391596181

1 SubmittersRCV000695442

NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)

SNV
Germline

Chr16:2106810

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394371426

rs_1567186946

9 SubmittersRCV000712646 RCV001292115 RCV001281267 RCV005250103

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

CA3003856

rs_200314088

5 SubmittersRCV000756541 RCV001157037 RCV001399177 RCV002536562

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

SNV
Germline

Chr4:88067946

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3004244

rs_778235410

11 SubmittersRCV000756535 RCV001249119 RCV002533792 RCV001292538 RCV004753027 RCV005463117

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

SNV
Germline

Chr16:2113267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394385763

rs_1567208088

5 SubmittersRCV000757636 RCV001254294 RCV001292068

NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)

SNV
Germline

Chr16:2118330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394394665

rs_1567218310

5 SubmittersRCV000757634 RCV001254297 RCV005021146

NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)

SNV
Germline

Chr16:1526057

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7813557

rs_144513458

4 SubmittersRCV000760741 RCV002500984 RCV005250107 RCV004753029

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

SNV
Germline

Chr4:88038488

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357633267

rs_1578130676

16 SubmittersRCV000788690 RCV001292537 RCV001000981 RCV001869209 RCV004753041 RCV005384849

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
Polycystic kidney disease, adult type

Criteria Provided
Multiple Submitters
No Conflicts

CA394379730

rs_1238351274

6 SubmittersRCV000788822 RCV001844846 RCV003892704 RCV005021189

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

SNV
Germline

Chr16:2117579

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394392620

rs_1060499699

8 SubmittersRCV000788499 RCV004740449 RCV003994117 RCV004594118

NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)

SNV
Germline

Chr16:2118018

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394393654

rs_1232180956

8 SubmittersRCV000788578 RCV001292501 RCV001095567 RCV004760785 RCV005626213

NM_001009944.3(PKD1):c.1202-9G>A

SNV
Germline

Chr16:2117681

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA915949032

rs_1596588606

5 SubmittersRCV000788955 RCV002501034 RCV005367552

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

CA100873246

rs_866815144

3 SubmittersRCV000860625 RCV001155349 RCV003948043

NM_000297.4(PKD2):c.2754C>T (p.Ser918=)

SNV
Germline

Chr4:88075541

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA3004353

rs_748855749

2 SubmittersRCV002538924 RCV005036245

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

CA3004348

rs_144590958

2 SubmittersRCV000868499 RCV001414324

NM_000297.4(PKD2):c.531C>T (p.His177=)

SNV
Germline

Chr4:88008264

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA100873335

rs_895731667

2 SubmittersRCV002539127 RCV004768728

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

SNV
Germline

Chr4:88046687

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357618629

rs_1578135870

5 SubmittersRCV000992622 RCV002549800 RCV003413781 RCV002488093

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

SNV
Germline

Chr16:2090191

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394322901

rs_1282668884

6 SubmittersRCV000992559 RCV001292454 RCV001356997 RCV001536035 RCV004740532

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
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
PKD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA915948999

rs_555703777

8 SubmittersRCV000992548 RCV001292441 RCV002497287 RCV003229566 RCV005418948 RCV004740531

NM_001009944.3(PKD1):c.1723-1G>A

SNV
Germline

Chr16:2116119

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394391330

rs_1596582948

4 SubmittersRCV000992564 RCV001002438 RCV005359726

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

CA357618352

rs_886041114

8 SubmittersRCV001002301 RCV001221367 RCV003148910

NM_000297.4(PKD2):c.295G>T (p.Glu99Ter)

SNV
Germline

Chr4:88008028

Pathogenic/Likely pathogenic

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA357626067

rs_1578111378

3 SubmittersRCV001027652 RCV005093295

NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile)

SNV
Germline

Chr4:88058072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA357623228

rs_1720430638

3 SubmittersRCV001039347 RCV002479250 RCV003405223

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

SNV
Germline

Chr16:2105411

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394366122

rs_1452322332

7 SubmittersRCV001091876 RCV001252966 RCV001254251 RCV001292442 RCV005453166

NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)

SNV
Germline

Chr16:2105435

Pathogenic/Likely pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394366215

rs_778979740

3 SubmittersRCV001095592 RCV005250137

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

CA3003708

rs_773343245

4 SubmittersRCV001151506 RCV001356949 RCV002070836 RCV003963096

NM_000297.4(PKD2):c.945G>A (p.Leu315=)

SNV
Germline

Chr4:88038352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3003846

rs_201789789

3 SubmittersRCV001157036 RCV003908408 RCV005093665

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

CA3004309

rs_770609334

3 SubmittersRCV001157153 RCV001248566 RCV001655687

NM_000297.4(PKD2):c.198C>A (p.Asp66Glu)

SNV
Germline

Chr4:88007931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA100873075

rs_988396505

4 SubmittersRCV001235036 RCV004960605 RCV005036513

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

CA3003794

rs_147000344

2 SubmittersRCV001241961 RCV002564014

NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)

SNV
Germline

Chr16:2112433

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

CA394383682

rs_2092538738

6 SubmittersRCV001249161 RCV001292117 RCV002273845 RCV005250164

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

CA394331628

rs_2091571329

2 SubmittersRCV001249163 RCV001844854

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

SNV
Germline

Chr16:2106393

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1139664384

rs_2092337963

4 SubmittersRCV001249110 RCV004594256 RCV003963153 RCV003229568

NM_001009944.3(PKD1):c.12444+1G>A

SNV
Germline

Chr16:2090284

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394324476

rs_2091431794

4 SubmittersRCV001251474 RCV001292153 RCV004697092 RCV005250166

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

CA357623896

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

CA394352966

rs_1415277933

1 SubmittersRCV001254317

NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met)

SNV
Germline

Chr16:2100258

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
not specified
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

CA7829997

rs_200214266

3 SubmittersRCV001254210 RCV005236739 RCV005360002

NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg)

SNV
Germline

Chr16:2103850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7830611

rs_760592410

4 SubmittersRCV001254244 RCV001292271 RCV003908477 RCV004794520

NM_001009944.3(PKD1):c.7222C>T (p.Arg2408Cys)

SNV
Germline

Chr16:2106665

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

CA7831215

rs_538769374

2 SubmittersRCV001254300 RCV005014312

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

SNV
Germline

Chr16:2108633

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

CA394373368

rs_1054011070

1 SubmittersRCV001254253

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

SNV
Germline

Chr16:2108826

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394373750

rs_2092427197

3 SubmittersRCV001254227 RCV004699240 RCV004740639

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

SNV
Germline

Chr16:2103833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7830604

rs_202159463

4 SubmittersRCV001254607 RCV003994247 RCV003918808

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394385768

rs_1163700577

5 SubmittersRCV001270439 RCV002471077 RCV003229569 RCV005256760

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

SNV
Germline

Chr4:88008289

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357627124

rs_1726258048

4 SubmittersRCV001288349 RCV001844856 RCV004789516

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
Inborn genetic diseases
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA3003789

rs_200543024

4 SubmittersRCV001288351 RCV001871709 RCV004960680 RCV002486084

NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)

SNV
Germline

Chr16:2109244

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394375036

rs_2092439541

4 SubmittersRCV001292111 RCV002274180 RCV005232244 RCV001535989

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

CA394382487

rs_2092501974

3 SubmittersRCV001292541 RCV002275340 RCV003994255

NM_000297.4(PKD2):c.2358+5G>A

SNV
Germline

Chr4:88065884

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA1474588160

rs_1720774022

2 SubmittersRCV001323620 RCV002476522

NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)

SNV
Germline

Chr16:2109384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7831859

rs_201991587

8 SubmittersRCV002499711 RCV003151306 RCV001355886 RCV001573466 RCV004728664 RCV005626414

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

CA357615518

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

CA357627250

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

CA357627252

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

CA357633020

rs_2110107236

3 SubmittersRCV001382094 RCV002488201

NM_000297.4(PKD2):c.1717-7C>T

SNV
Germline

Chr4:88056079

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2
Kidney failure

Criteria Provided
Conflicting Classifications

CA3004038

rs_201267638

3 SubmittersRCV001495187 RCV002495749 RCV005626432

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

SNV
Germline

Chr4:88036219

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA357630870

rs_2110104725

1 SubmittersRCV001844863

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

SNV
Germline

Chr6:52022821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138944411

rs_367970695

7 SubmittersRCV001844868 RCV001751808 RCV003323914 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

CA394373321

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

CA7833078

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

CA7832608

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

CA394375927

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

CA394373652

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

CA394338406

rs_2151707040

1 SubmittersRCV001844980

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

SNV
Germline

Chr16:2100421

Likely pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Single Submitter

CA394355932

rs_2092047055

2 SubmittersRCV001844983 RCV005005988

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

SNV
Germline

Chr16:2119316

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA394396143

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

CA394378335

rs_534630703

1 SubmittersRCV001844989

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

SNV
Germline

Chr16:2097185

Pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394344432

rs_1385274120

3 SubmittersRCV002506716 RCV001844990

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

CA394346793

rs_2151726823

2 SubmittersRCV001844991 RCV003446858

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

SNV
Germline

Chr16:2118352

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA394394748

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

CA394355381

rs_1596513913

1 SubmittersRCV001844998

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

SNV
Germline

Chr16:2091788

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA394332405

rs_2151697614

1 SubmittersRCV001845002

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

SNV
Germline

Chr16:2091866

Likely pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

CA394333218

rs_2151698069

2 SubmittersRCV002477881 RCV001845003

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

SNV
Germline

Chr16:2100310

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA394355635

rs_2151741177

1 SubmittersRCV001845005

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

SNV
Germline

Chr16:2100568

Pathogenic/Likely pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Multiple Submitters
No Conflicts

CA394356715

rs_2151742515

3 SubmittersRCV001845006 RCV004796648

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

SNV
Germline

Chr16:2107881

Pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA394372306

rs_2151783529

1 SubmittersRCV001845008

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

SNV
Germline

Chr16:2108251

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394372630

rs_2151785467

3 SubmittersRCV001845009 RCV005005989 RCV004720930

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

SNV
Germline

Chr16:2119111

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA2573054193

rs_2151826018

1 SubmittersRCV001845010

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

SNV
Germline

Chr16:2092189

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Multiple Submitters
No Conflicts

CA394335087

rs_2151700092

3 SubmittersRCV001845012 RCV004587193

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

SNV
Germline

Chr4:88068047

Pathogenic

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

Criteria Provided
Single Submitter

CA357627139

rs_757682666

3 SubmittersRCV002477882 RCV003984042 RCV001845013

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

SNV
Germline

Chr4:88043241

Likely pathogenic

Autosomal dominant polycystic kidney disease

No Assertion Criteria Provided

CA357615375

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

CA357623671

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

CA357632287

rs_1727413505

1 SubmittersRCV001845020

NM_001009944.3(PKD1):c.2853+1G>A

SNV
Germline

Chr16:2114169

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394386599

rs_2151812559

3 SubmittersRCV001726978 RCV002477903 RCV005361702

NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)

SNV
Germline

Chr16:2100280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394355458

rs_1422698524

3 SubmittersRCV001765459 RCV002506774 RCV003458176

NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)

SNV
Germline

Chr11:111837577

Conflicting classifications of pathogenicity

Condition: not provided
ALG9 congenital disorder of glycosylation
ALG9-associated autosomal dominant polycystic kidney disease
Gillessen-Kaesbach-Nishimura syndrome
ALG9 congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA382592688

rs_782775735

4 SubmittersRCV001771540 RCV002471150 RCV004785307 RCV005040363

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

SNV
Germline

Chr4:88046688

Pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA357618643

rs_2110115819

2 SubmittersRCV001945143 RCV004594606

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

CA3004241

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

CA357633064

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

CA3003905

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357628347

rs_2110089248

4 SubmittersRCV001958713 RCV002479589 RCV004699588

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

SNV
Germline

Chr4:88036353

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA440269264

rs_1727333486

6 SubmittersRCV002003620 RCV003434379 RCV002463091 RCV005042645

NM_000297.4(PKD2):c.710-11C>A

SNV
Germline

Chr4:88036209

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA3003777

rs_764334983

3 SubmittersRCV002171141 RCV005032170

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

SNV
Germline

Chr16:2093118

Likely pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA2573130392

rs_2151704874

2 SubmittersRCV002273050 RCV003229570

NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter)

SNV
Germline

Chr16:2090562

Pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394326645

rs_2151682538

2 SubmittersRCV002273850 RCV005250240

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

SNV
Germline

Chr16:2093118

Likely pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Multiple Submitters
No Conflicts

CA2573050757

rs_2151704874

2 SubmittersRCV003229571 RCV002471290

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

CA394389749

rs_781018494

3 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

CA394348407

rs_373222937

2 SubmittersRCV002471292 RCV003229574

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

SNV
Germline

Chr16:2135473

Pathogenic/Likely pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Multiple Submitters
No Conflicts

CA394282105

rs_2544960078

2 SubmittersRCV002463868 RCV005419462

NM_000297.4(PKD2):c.274C>T (p.Pro92Ser)

SNV
Germline

Chr4:88008007

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
PKD2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA100873113

rs_940758517

3 SubmittersRCV003074890 RCV003898756 RCV004654121

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

SNV
Germline

Chr4:88046843

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

CA3003958

rs_747688660

1 SubmittersRCV002651834

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

SNV
Germline

Chr4:88043231

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

CA357615314

rs_2475915193

1 SubmittersRCV002594444

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

SNV
Germline

Chr4:88061904

Likely pathogenic

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA357623473

rs_2475970000

2 SubmittersRCV002736013 RCV005034394

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

SNV
Germline

Chr4:88056233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA357622924

rs_2475954193

3 SubmittersRCV003427509 RCV002850961 RCV003989789

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

SNV
Germline

Chr4:88007941

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

CA357625720

rs_1726233533

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

CA357622726

rs_1445590170

1 SubmittersRCV003020531

NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)

SNV
Germline

Chr4:88061928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA100880478

rs_199723110

3 SubmittersRCV002730045 RCV003746656 RCV005036628

NM_000297.4(PKD2):c.503T>C (p.Val168Ala)

SNV
Germline

Chr4:88008236

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal dominant polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA357626916

rs_2476358625

2 SubmittersRCV003255744 RCV005102598

NM_001009944.3(PKD1):c.7489+1G>A

SNV
Germline

Chr16:2106397

Pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394369341

rs_2544779978

2 SubmittersRCV003327730 RCV005356399

NM_001009944.3(PKD1):c.7209+1G>C

SNV
Germline

Chr16:2106804

Likely pathogenic

Condition: not provided
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394371406

rs_2544784172

2 SubmittersRCV003456911 RCV005250310

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

SNV
Germline

Chr4:88062006

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

CA357623906

rs_2475970459

1 SubmittersRCV003584255

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

SNV
Germline

Chr4:88056212

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA357622877

rs_1216272782

2 SubmittersRCV003747172 RCV004594707

NM_000297.4(PKD2):c.2729G>A (p.Arg910His)

SNV
Germline

Chr4:88075516

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
not specified
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

CA3004349

rs_144590958

3 SubmittersRCV003746127 RCV005407215 RCV005036943

NM_001009944.3(PKD1):c.529+5G>A

SNV
Germline

Chr16:2118671

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

CA2579754022

rs_2544882689

2 SubmittersRCV003994659 RCV005414716

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

CA394362673

rs_901163374

2 SubmittersRCV003994731 RCV004565962

NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met)

SNV
Germline

Chr16:2116578

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
not specified
Polycystic kidney disease, adult type

Criteria Provided
Conflicting Classifications

CA7833454

rs_781572938

3 SubmittersRCV003994734 RCV005433501 RCV005006354

NM_001009944.3(PKD1):c.9503T>C (p.Phe3168Ser)

SNV
Germline

Chr16:2100461

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV004764392

NM_000297.4(PKD2):c.354G>A (p.Trp118Ter)

SNV
Germline

Chr4:88008087

Pathogenic

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788586 RCV005250372

NM_001009944.3(PKD1):c.12003+1G>T

SNV
Germline

Chr16:2090883

Pathogenic

Polycystic kidney disease, adult type
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005019885 RCV005365369

NM_000297.4(PKD2):c.2522+1G>A

SNV
Germline

Chr4:88068062

Pathogenic/Likely pathogenic

Polycystic kidney disease 2
Autosomal dominant polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005043056 RCV005112859

NM_000297.4(PKD2):c.2326C>T (p.Gln776Ter)

SNV
Germline

Chr4:88065847

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005066731

NM_000297.4(PKD2):c.1044C>G (p.Tyr348Ter)

SNV
Germline

Chr4:88038451

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005118531

NM_000297.4(PKD2):c.2236A>T (p.Lys746Ter)

SNV
Germline

Chr4:88065491

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005135083

NM_000297.4(PKD2):c.2079G>A (p.Gln693=)

SNV
Germline

Chr4:88061965

Conflicting classifications of pathogenicity

Autosomal dominant polycystic kidney disease
Polycystic kidney disease 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005192172 RCV005393000

NM_001009944.3(PKD1):c.6065C>A (p.Ser2022Ter)

SNV
Germline

Chr16:2109102

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005250426

NM_001009944.3(PKD1):c.2069T>A (p.Val690Asp)

SNV
Germline

Chr16:2115406

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005251015

NM_001009944.3(PKD1):c.11016+2T>C

SNV
Germline

Chr16:2093542

Likely pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005362360

NM_001009944.3(PKD1):c.7210-2A>G

SNV
Germline

Chr16:2106679

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005362472

NM_000297.4(PKD2):c.1548+2T>G

SNV
Germline

Chr4:88046872

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005356629

NM_024740.2(ALG9):c.761G>A (p.Trp254Ter)

SNV
Germline

Chr11:111853677

Pathogenic

Autosomal dominant polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005415317