Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	SNV Germline	Chr6:52083201	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Colorectal cancer, protection against Condition: not provided Polycystic kidney disease Oligohydramnios Periportal fibrosis Polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4 PKHD1-related disorder Inborn genetic diseases See cases Renal cyst	Criteria Provided Multiple Submitters No Conflicts	CA129366	rs_137852944	48 SubmittersRCV000004324 RCV000023566 RCV000082517 RCV000414898 RCV000626993 RCV000845138 RCV001535891 RCV003415647 RCV004018552 RCV004584312 RCV005624669
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)	SNV Germline	Chr6:52024819	Pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA253009	rs_28937907	1 SubmittersRCV000004325
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	SNV Germline	Chr6:52024589	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 See cases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA234572	rs_137852946	12 SubmittersRCV000004327 RCV000153715 RCV001849254 RCV004584313 RCV004748495
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)	SNV Germline	Chr6:51847871	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253011	rs_137852947	9 SubmittersRCV000004328 RCV003137490 RCV004589495 RCV004748496
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)	SNV Germline	Chr6:51659468	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253013	rs_137852948	7 SubmittersRCV000004329 RCV000623522 RCV003460425 RCV003415648
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	SNV Germline	Chr6:52058349	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Autosomal dominant polycystic liver disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA253014	rs_137852949	13 SubmittersRCV000004330 RCV000723837 RCV000845135 RCV002496252
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)	SNV Germline	Chr6:51659714	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA253016	rs_137852950	5 SubmittersRCV000004331 RCV000788517 RCV003460426
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)	SNV Germline	Chr6:51744510	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA224050	rs_398124475	6 SubmittersRCV000179585 RCV000790800 RCV004566956
NM_138694.4(PKHD1):c.1964+17G>T	SNV Germline	Chr6:52054021	Conflicting classifications of pathogenicity	not specified Condition: not provided PKHD1-related disorder Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA149495	rs_201349527	5 SubmittersRCV000082532 RCV000588326 RCV003891579 RCV001512862
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_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)	SNV Germline	Chr6:52046144	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA224059	rs_398124480	5 SubmittersRCV000176504 RCV002490727 RCV002514445
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)	SNV Germline	Chr6:52042908	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA224064	rs_138989655	7 SubmittersRCV000082544 RCV000306360 RCV001449949
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)	SNV Germline	Chr6:52033153	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA224066	rs_200986136	6 SubmittersRCV000488108 RCV001488784 RCV002513851 RCV003133132 RCV004748568
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)	SNV Germline	Chr6:52028179	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA224068	rs_141574387	9 SubmittersRCV000082546 RCV000860578 RCV001588907 RCV005357526
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)	SNV Germline	Chr6:52025506	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA224075	rs_138242579	8 SubmittersRCV000082552 RCV001158630 RCV001578915 RCV002513852 RCV003894941
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)	SNV Germline	Chr6:52025467	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA149510	rs_116809571	11 SubmittersRCV000082553 RCV000229420 RCV000224846 RCV005430487
NM_138694.4(PKHD1):c.528-18A>T	SNV Germline	Chr6:52072207	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA224081	rs_200804428	2 SubmittersRCV000082559 RCV001485042
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)	SNV Germline	Chr6:52010329	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA224082	rs_149553146	8 SubmittersRCV000082562 RCV000671325 RCV003945030 RCV005394351
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)	SNV Germline	Chr6:52071040	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA224086	rs_144025892	7 SubmittersRCV000082566 RCV000327475 RCV001449950
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	SNV Germline	Chr6:51883163	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA224091	rs_398124492	5 SubmittersRCV000082569 RCV001004196 RCV002272061
NM_138694.4(PKHD1):c.7912-5T>G	SNV Germline	Chr6:51847975	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA224095	rs_371510537	11 SubmittersRCV000206771 RCV000487822 RCV001731369 RCV003974991
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	SNV Germline	Chr6:51791331	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Caroli disease Autosomal dominant polycystic liver disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA224098	rs_147222255	18 SubmittersRCV000082581 RCV000473573 RCV000659055 RCV001507100 RCV001844807 RCV003935071 RCV005430488
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)	SNV Germline	Chr6:51791269	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA224100	rs_398124495	8 SubmittersRCV000179135 RCV000790666 RCV003407467 RCV005430121
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)	SNV Germline	Chr6:51791268	Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA224101	rs_398124496	2 SubmittersRCV000179136 RCV001854440
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	SNV Germline	Chr6:51791251	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA224103	rs_398124497	7 SubmittersRCV000082584 RCV000531951 RCV003398682 RCV002470760
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	SNV Germline	Chr6:52083223	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA224105	rs_398124498	7 SubmittersRCV000177400 RCV001035923 RCV003129775 RCV003398683
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)	SNV Germline	Chr6:51753327	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA224108	rs_398124500	7 SubmittersRCV000169555 RCV000790758 RCV003474684
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	SNV Germline	Chr6:51748401	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA224110	rs_139306706	11 SubmittersRCV000253968 RCV000860694 RCV001449653 RCV001705803 RCV003891580
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	SNV Germline	Chr6:52062655	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA224114	rs_398124503	10 SubmittersRCV000174804 RCV000790671 RCV001580453 RCV004748570
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	SNV Germline	Chr6:51746853	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease Polycystic kidney disease 4 Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA234561	rs_148932323	14 SubmittersRCV000153703 RCV000169100 RCV000489179 RCV001292034 RCV001449953 RCV001844809 RCV003907452
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)	SNV Germline	Chr6:52035671	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA234574	rs_727504088	4 SubmittersRCV000153719 RCV000765889 RCV002516089 RCV005042297
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)	SNV Germline	Chr6:52053238	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA234582	rs_727504092	4 SubmittersRCV000153723 RCV001379301 RCV005042298
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)	SNV Germline	Chr6:51747897	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA234565	rs_146649803	9 SubmittersRCV000153706 RCV000200664 RCV000780600 RCV003416003 RCV003474810
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter)	SNV Germline	Chr6:51909466	Pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA234569	rs_368263958	2 SubmittersRCV000178448 RCV001384543
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)	SNV Germline	Chr6:52050256	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA234578	rs_727504090	5 SubmittersRCV000153721 RCV000765890 RCV001331698
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)	SNV Germline	Chr6:51747828	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Autosomal dominant polycystic liver disease Polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA234563	rs_146519878	9 SubmittersRCV000153705 RCV000196023 RCV001572539 RCV001844810 RCV001292125 RCV003937433
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)	SNV Germline	Chr6:52043721	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA234576	rs_727504089	10 SubmittersRCV000176696 RCV001781495 RCV000790818 RCV003917507
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)	SNV Germline	Chr6:52054077	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA234584	rs_138968608	7 SubmittersRCV000153724 RCV001079254 RCV003965145 RCV002516090 RCV003150954
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)	SNV Germline	Chr6:52079920	Pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Abnormal intrahepatic bile duct morphology See cases Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA234592	rs_727504096	10 SubmittersRCV000179011 RCV000796722 RCV000626995 RCV004584358 RCV003474811
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	SNV Germline	Chr6:51748201	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA180301	rs_45503297	15 SubmittersRCV000153707 RCV000169053 RCV001706025 RCV001292335 RCV001449939
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)	SNV Germline	Chr6:52028309	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease Polycystic kidney disease 4 Caroli disease	Criteria Provided Conflicting Classifications	CA180312	rs_41273726	16 SubmittersRCV000153718 RCV000168029 RCV000224414 RCV001291851 RCV001449932 RCV001507102
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)	SNV Germline	Chr6:51659200	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Biliary tract abnormality	Criteria Provided Conflicting Classifications	CA234559	rs_78518523	13 SubmittersRCV000153701 RCV000723889 RCV001164890 RCV001810428 RCV003945211 RCV005621889
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)	SNV Germline	Chr6:51906246	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA180308	rs_140065359	8 SubmittersRCV000153712 RCV000336710 RCV001292179 RCV001555451
NM_138694.4(PKHD1):c.8303-1G>A	SNV Germline	Chr6:51791374	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA334735	rs_786204241	1 SubmittersRCV000168405
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	SNV Germline	Chr6:52024940	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Abnormal intrahepatic bile duct morphology Condition: not provided Polycystic kidney disease 4 Polycystic kidney disease PKHD1-related disorder Caroli disease Autosomal dominant polycystic liver disease Renal cyst	Criteria Provided Multiple Submitters No Conflicts	CA334736	rs_200391019	32 SubmittersRCV000168407 RCV000626996 RCV000479548 RCV001331702 RCV001292108 RCV003398859 RCV001507098 RCV001844812 RCV005625351
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)	SNV Germline	Chr6:51632706	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA273916	rs_746471701	4 SubmittersRCV000169068 RCV003462264
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	SNV Germline	Chr6:51659682	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274092	rs_148617572	12 SubmittersRCV000169255 RCV000726420 RCV001331692 RCV003937523
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	SNV Germline	Chr6:51748297	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274366	rs_786204688	9 SubmittersRCV000169496 RCV000724686 RCV002272153 RCV004748616
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)	SNV Germline	Chr6:51775841	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Condition: not provided Polycystic kidney disease	Criteria Provided Conflicting Classifications	CA203171	rs_113562492	10 SubmittersRCV000169052 RCV000179159 RCV001527869 RCV001292233
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	SNV Germline	Chr6:51847966	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease Condition: not provided Abnormality of the genitourinary system Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA274412	rs_181208607	12 SubmittersRCV000169564 RCV000415427 RCV001091108 RCV001814084 RCV001374661
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	SNV Germline	Chr6:51903601	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273991	rs_200179145	19 SubmittersRCV000169149 RCV000494184 RCV001291886 RCV001542752 RCV004748614
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)	SNV Germline	Chr6:52028349	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274186	rs_142107837	7 SubmittersRCV000169334 RCV002492692 RCV001843489
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)	SNV Germline	Chr6:52043636	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Renal cyst Ventricular hypertrophy Polycystic kidney disease Polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA274389	rs_786204707	5 SubmittersRCV000169522 RCV000415273 RCV000626994 RCV005603604
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)	SNV Germline	Chr6:52050157	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274068	rs_745770404	11 SubmittersRCV000169230 RCV001283774 RCV003927564 RCV005623309
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	SNV Germline	Chr6:52054122	Pathogenic	Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA274375	rs_786204696	5 SubmittersRCV000169507 RCV001844813 RCV003398869
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)	SNV Germline	Chr6:52055593	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274378	rs_749293235	8 SubmittersRCV000169512 RCV003152689 RCV004748617
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)	SNV Germline	Chr6:52058355	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA274284	rs_754392766	8 SubmittersRCV000169415 RCV000725681 RCV002498843
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)	SNV Germline	Chr6:52058377	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA274453	rs_786204749	5 SubmittersRCV000169599 RCV003462270
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_138694.4(PKHD1):c.1849T>C (p.Tyr617His)	SNV Germline	Chr6:52054153	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA241995	rs_141177165	5 SubmittersRCV000176124 RCV001082977 RCV004748632
NM_138694.4(PKHD1):c.2279+13T>G	SNV Germline	Chr6:52050144	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications	CA242234	rs_188914598	9 SubmittersRCV000724186 RCV001160100 RCV000249026
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)	SNV Germline	Chr6:52050269	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 not specified Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA242235	rs_794727366	9 SubmittersRCV000176334 RCV002272158 RCV003317127 RCV003502520
NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=)	SNV Germline	Chr6:52042872	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA242803	rs_754425809	2 SubmittersRCV000176776 RCV002056955
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	SNV Germline	Chr6:52043102	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 Autosomal dominant polycystic liver disease	Criteria Provided Multiple Submitters No Conflicts	CA275144	rs_773136605	11 SubmittersRCV000176777 RCV000724042 RCV001198369 RCV001844815
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)	SNV Germline	Chr6:52035697	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder not specified	Criteria Provided Conflicting Classifications	CA242990	rs_794727466	6 SubmittersRCV000176895 RCV001276778 RCV004748633 RCV004689656
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)	SNV Germline	Chr6:52033152	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA243064	rs_201123815	5 SubmittersRCV000176952 RCV004020100 RCV002517706 RCV002485152
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	SNV Germline	Chr6:52024750	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA244193	rs_794727566	7 SubmittersRCV000177676 RCV000394147 RCV001781535
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)	SNV Germline	Chr6:51960010	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided not specified Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA244856	rs_150838488	11 SubmittersRCV000274741 RCV000724484 RCV001844070 RCV005042382 RCV003947510
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)	SNV Germline	Chr6:51912453	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA202674	rs_147487242	10 SubmittersRCV000177959 RCV000857781 RCV000354123 RCV005361075
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)	SNV Germline	Chr6:51912482	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA244961	rs_148817026	3 SubmittersRCV000177960 RCV001086667
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)	SNV Germline	Chr6:52082515	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified PKHD1-related disorder Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA245465	rs_141790557	9 SubmittersRCV000406304 RCV000178381 RCV003927661 RCV001706142 RCV005365104
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	SNV Germline	Chr6:51903997	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease not specified PKHD1-related disorder Renal cyst Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA275271	rs_142526715	17 SubmittersRCV000224543 RCV000765886 RCV001844816 RCV002282003 RCV003917663 RCV005625381 RCV005361076
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)	SNV Germline	Chr6:51885888	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA275278	rs_794727680	3 SubmittersRCV000178588 RCV003462287 RCV003611503
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)	SNV Germline	Chr6:51883136	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA245788	rs_147851214	8 SubmittersRCV000178612 RCV000291419 RCV003937615
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)	SNV Germline	Chr6:51867921	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified PKHD1-related disorder Inborn genetic diseases Polycystic kidney disease 4 Autosomal dominant polycystic liver disease	Criteria Provided Conflicting Classifications	CA245849	rs_150046042	13 SubmittersRCV000178676 RCV000806672 RCV001358740 RCV003977466 RCV003352795 RCV005396547 RCV001844817
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)	SNV Germline	Chr6:52079965	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA203131	rs_143979330	6 SubmittersRCV000179009 RCV000288301 RCV001292146 RCV003955075
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)	SNV Germline	Chr6:51791265	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA246375	rs_794727759	7 SubmittersRCV000336528 RCV003474935 RCV000790749
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)	SNV Germline	Chr6:51748253	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA246494	rs_183674012	6 SubmittersRCV000179215 RCV001083480
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	SNV Germline	Chr6:51659907	Pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA275361	rs_781368899	16 SubmittersRCV000627228 RCV000844922 RCV000845132 RCV002267610
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)	SNV Germline	Chr6:51659382	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA246897	rs_148300854	5 SubmittersRCV000179596 RCV001407262 RCV003129797
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)	SNV Germline	Chr6:51658996	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA246899	rs_146224907	4 SubmittersRCV000179597 RCV001086146
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	SNV Germline	Chr6:51619279	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA246986	rs_143616240	12 SubmittersRCV000179675 RCV000674658 RCV000589131 RCV003319328 RCV003937626
NM_138694.4(PKHD1):c.449-6A>T	SNV Germline	Chr6:52073547	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA247375	rs_200204976	3 SubmittersRCV000180000 RCV001277915
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)	SNV Germline	Chr6:52071021	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA248265	rs_149522482	8 SubmittersRCV000180702 RCV000633437 RCV001810434 RCV001844818 RCV003917687
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	SNV Germline	Chr6:51619196	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA338262	rs_199900211	8 SubmittersRCV000198885 RCV000730606 RCV003967536 RCV003129804
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)	SNV Germline	Chr6:51648091	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA337383	rs_41273722	10 SubmittersRCV000251856 RCV001545553 RCV001162836 RCV003891772 RCV005361162
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	SNV Germline	Chr6:51772763	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA337220	rs_150925674	14 SubmittersRCV000197457 RCV000254142 RCV000590788 RCV005361124
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)	SNV Germline	Chr6:52043720	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA337273	rs_201753421	4 SubmittersRCV000197522 RCV003133173
NM_138694.4(PKHD1):c.6462T>G (p.Val2154=)	SNV Germline	Chr6:51911827	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10581262	rs_878852998	2 SubmittersRCV000224422 RCV002516220
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)	SNV Germline	Chr6:51748354	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease	Criteria Provided Conflicting Classifications	CA3851421	rs_201066635	5 SubmittersRCV000224584 RCV000707695 RCV001844820
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)	SNV Germline	Chr6:52043103	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Polycystic kidney disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA3853086	rs_139815340	11 SubmittersRCV000225884 RCV000250293 RCV001449647 RCV001706278
NM_138694.4(PKHD1):c.8173+12C>T	SNV Germline	Chr6:51836392	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851719	rs_368093611	4 SubmittersRCV000246958 RCV000357751 RCV005430287
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)	SNV Germline	Chr6:51847860	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851768	rs_755688912	3 SubmittersRCV000250865 RCV000726606 RCV001083857
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)	SNV Germline	Chr6:51906249	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852185	rs_34796823	5 SubmittersRCV000251887 RCV000725284 RCV001089375
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)	SNV Germline	Chr6:52024685	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852608	rs_45517932	11 SubmittersRCV000253664 RCV000558453 RCV000987715 RCV005361496
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)	SNV Germline	Chr6:52026027	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3852838	rs_138388301	10 SubmittersRCV000252548 RCV000335297 RCV000726130
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)	SNV Germline	Chr6:52050193	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853298	rs_141622697	6 SubmittersRCV000254512 RCV001086206 RCV000725680 RCV003891982
NM_138694.4(PKHD1):c.130+9G>A	SNV Germline	Chr6:52083169	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3854034	rs_367608402	4 SubmittersRCV000250803 RCV000727487 RCV001088979
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)	SNV Germline	Chr6:52058363	Likely pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA10588926	rs_886039888	1 SubmittersRCV000256369
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)	SNV Germline	Chr6:52083179	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3854036	rs_201195801	5 SubmittersRCV000398350 RCV005355586 RCV001242776
NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys)	SNV Germline	Chr6:52069471	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10603998	rs_886042259	2 SubmittersRCV000396836 RCV001855094
NM_138694.4(PKHD1):c.3009T>C (p.Gly1003=)	SNV Germline	Chr6:52042947	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10604158	rs_886042383	2 SubmittersRCV000302159 RCV002059106
NM_138694.4(PKHD1):c.1796C>T (p.Pro599Leu)	SNV Germline	Chr6:52055627	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853444	rs_199941159	3 SubmittersRCV000340678 RCV001453273
NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro)	SNV Germline	Chr6:52028343	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852958	rs_144365187	5 SubmittersRCV000311356 RCV002059116 RCV004748688 RCV005031852
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=)	SNV Germline	Chr6:52025772	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852791	rs_147584295	3 SubmittersRCV000327301 RCV001078983
NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His)	SNV Germline	Chr6:52025270	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852704	rs_147098776	4 SubmittersRCV000292605 RCV001454131 RCV005031854 RCV004725139
NM_138694.4(PKHD1):c.9186T>C (p.Asn3062=)	SNV Germline	Chr6:51748430	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851435	rs_755873874	2 SubmittersRCV000359263 RCV002518895
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)	SNV Germline	Chr6:52050171	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853292	rs_375603741	6 SubmittersRCV000343380 RCV001083769 RCV001449587 RCV003977763
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)	SNV Germline	Chr6:52050192	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10605002	rs_886043022	3 SubmittersRCV000339635 RCV002487223 RCV002518960
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)	SNV Germline	Chr6:51748138	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851385	rs_147351244	8 SubmittersRCV000317863 RCV000392284 RCV003441833 RCV003920094 RCV005355593
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)	SNV Germline	Chr6:51906336	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852197	rs_148497044	4 SubmittersRCV000316786 RCV001081137 RCV003920096
NM_138694.4(PKHD1):c.707+1G>A	SNV Germline	Chr6:52070405	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853807	rs_748365248	5 SubmittersRCV000300283 RCV000725728 RCV001810443
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	SNV Germline	Chr6:52024676	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3852602	rs_141103838	13 SubmittersRCV000373143 RCV000414198 RCV001580479 RCV003391047 RCV005238846
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	SNV Germline	Chr6:52082399	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853985	rs_370277502	12 SubmittersRCV000337196 RCV001535928 RCV001004221 RCV005452971 RCV003417901
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)	SNV Germline	Chr6:51909466	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852238	rs_368263958	4 SubmittersRCV000350995 RCV000819334 RCV002487239
NM_138694.4(PKHD1):c.8814G>A (p.Thr2938=)	SNV Germline	Chr6:51753337	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851512	rs_755169390	2 SubmittersRCV000331782 RCV001473903
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)	SNV Germline	Chr6:52033091	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3852983	rs_148335285	7 SubmittersRCV000337623 RCV000394496 RCV003957472 RCV001706416
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)	SNV Germline	Chr6:52025553	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852752	rs_577832997	4 SubmittersRCV000390756 RCV000725949 RCV001276777
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)	SNV Germline	Chr6:51638955	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 not specified	Criteria Provided Conflicting Classifications	CA3850859	rs_149427926	6 SubmittersRCV000273670 RCV001079830 RCV005396892 RCV005431596
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)	SNV Germline	Chr6:52025518	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852742	rs_753307105	9 SubmittersRCV000328052 RCV000675159 RCV003391051 RCV003475914
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=)	SNV Germline	Chr6:51748619	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851462	rs_777095602	3 SubmittersRCV000294978 RCV002055071 RCV004748694
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)	SNV Germline	Chr6:51659119	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications	CA3850972	rs_142855690	8 SubmittersRCV000356617 RCV001449929 RCV001086169 RCV001193196
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)	SNV Germline	Chr6:51619470	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3850679	rs_35403035	4 SubmittersRCV000349865 RCV001272766 RCV003897628
NM_138694.4(PKHD1):c.8440+10G>C	SNV Germline	Chr6:51791226	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851635	rs_376658460	3 SubmittersRCV000321489 RCV001087959
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)	SNV Germline	Chr6:52025801	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3852799	rs_373255125	8 SubmittersRCV000264443 RCV000374359 RCV002470838 RCV003949917 RCV005462935
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)	SNV Germline	Chr6:51867955	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851883	rs_771563591	4 SubmittersRCV000316134 RCV001086866 RCV003897635
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)	SNV Germline	Chr6:52053242	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853363	rs_199635188	4 SubmittersRCV000320537 RCV000393707 RCV004748699
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)	SNV Germline	Chr6:51856060	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851843	rs_200204857	8 SubmittersRCV000528475 RCV000336713 RCV001084453 RCV001844822 RCV003940059
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)	SNV Germline	Chr6:52050242	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant polycystic liver disease Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853307	rs_201432731	9 SubmittersRCV000405708 RCV001844823 RCV000549371 RCV003910015 RCV005430289
NM_138694.4(PKHD1):c.2607C>T (p.Asn869=)	SNV Germline	Chr6:52045074	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853160	rs_147051973	2 SubmittersRCV000393196 RCV001444750
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)	SNV Germline	Chr6:51619506	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3850687	rs_149111536	7 SubmittersRCV000280002 RCV001082489 RCV003940068
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)	SNV Germline	Chr6:52017532	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852504	rs_137925439	6 SubmittersRCV000322539 RCV000381594
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln)	SNV Germline	Chr6:52025641	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852766	rs_139063552	7 SubmittersRCV000340674 RCV000402008 RCV002502151 RCV004021291 RCV004748701
NM_138694.4(PKHD1):c.281+3A>G	SNV Germline	Chr6:52082389	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3853983	rs_79803080	7 SubmittersRCV000332244 RCV000542647 RCV003910033 RCV001753747
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)	SNV Germline	Chr6:52025363	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852721	rs_146745096	7 SubmittersRCV000350289 RCV000765888 RCV003409420 RCV005033849
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=)	SNV Germline	Chr6:52024611	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852593	rs_148790132	3 SubmittersRCV000374476 RCV001081485
NM_138694.4(PKHD1):c.2280-9G>A	SNV Germline	Chr6:52048628	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853262	rs_376576760	2 SubmittersRCV000282414 RCV001470522
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)	SNV Germline	Chr6:52043131	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853094	rs_142205860	7 SubmittersRCV000266382 RCV000304554 RCV003417914 RCV005033850
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=)	SNV Germline	Chr6:52045044	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853155	rs_147915980	3 SubmittersRCV000396651 RCV001424165 RCV003920164
NM_138694.4(PKHD1):c.11818A>T (p.Asn3940Tyr)	SNV Germline	Chr6:51619488	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3850684	rs_757479262	2 SubmittersRCV000381345 RCV002059281
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)	SNV Germline	Chr6:51868063	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851902	rs_200679577	7 SubmittersRCV000331367 RCV000372441 RCV005396904 RCV003949957
NM_138694.4(PKHD1):c.642G>A (p.Gln214=)	SNV Germline	Chr6:52071031	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853837	rs_762584715	4 SubmittersRCV000310909 RCV001458615 RCV003897657 RCV005365229
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=)	SNV Germline	Chr6:51619462	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3850676	rs_199564783	3 SubmittersRCV000367616 RCV001086135
NM_138694.4(PKHD1):c.270A>G (p.Thr90=)	SNV Germline	Chr6:52082403	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10606957	rs_886044598	2 SubmittersRCV000373343 RCV001437607
NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp)	SNV Germline	Chr6:52053123	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853345	rs_199858063	5 SubmittersRCV000345048 RCV001493846 RCV005033855
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)	SNV Germline	Chr6:52064996	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853697	rs_140781915	5 SubmittersRCV000328110 RCV001034258 RCV004748703
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)	SNV Germline	Chr6:52050167	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853291	rs_777183511	9 SubmittersRCV000288236 RCV000317551 RCV001844826 RCV003469249 RCV004748704
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)	SNV Germline	Chr6:52056715	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Inborn genetic diseases Polycystic kidney disease 4 Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853487	rs_142896856	10 SubmittersRCV000361497 RCV000377159 RCV004021315 RCV001336939 RCV001844827 RCV004748706
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=)	SNV Germline	Chr6:52053125	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853346	rs_147826962	3 SubmittersRCV000292867 RCV001495667 RCV003897661
NM_138694.4(PKHD1):c.723G>A (p.Lys241=)	SNV Germline	Chr6:52069512	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10607079	rs_886044700	2 SubmittersRCV000335168 RCV001859736
NM_138694.4(PKHD1):c.11507-5C>T	SNV Germline	Chr6:51632728	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10622427	rs_886061609	2 SubmittersRCV000336640
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	SNV Germline	Chr6:51747911	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851350	rs_759568939	8 SubmittersRCV000265753 RCV004591130 RCV001526423
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)	SNV Germline	Chr6:51748214	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851394	rs_143737660	8 SubmittersRCV000591117 RCV000372328 RCV000781720 RCV001449936
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)	SNV Germline	Chr6:51747902	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3851349	rs_754654892	4 SubmittersRCV000360404 RCV001551259
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	SNV Germline	Chr6:51753281	Pathogenic	Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided Polycystic kidney disease Polycystic kidney disease 4 Biliary tract abnormality	Criteria Provided Multiple Submitters No Conflicts	CA3851503	rs_760222236	12 SubmittersRCV000390646 RCV003409556 RCV000521323 RCV001292483 RCV002502379 RCV005621938
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)	SNV Germline	Chr6:51847814	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10624394	rs_886061616	9 SubmittersRCV000299549 RCV000522783 RCV002504175 RCV003912528
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)	SNV Germline	Chr6:52046133	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3853201	rs_9474136	5 SubmittersRCV000375174 RCV001550907 RCV002509372
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)	SNV Germline	Chr6:52053137	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853350	rs_746441159	4 SubmittersRCV000595453 RCV000388330
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)	SNV Germline	Chr6:52053210	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 Hereditary disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853359	rs_200497761	8 SubmittersRCV000348938 RCV000596106 RCV001336940 RCV001824136 RCV003418076
NM_138694.4(PKHD1):c.1693+10G>A	SNV Germline	Chr6:52056688	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10624397	rs_886061621	2 SubmittersRCV000304404
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)	SNV Germline	Chr6:52082398	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853984	rs_145886657	9 SubmittersRCV000345554 RCV000598489 RCV003418077
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)	SNV Germline	Chr6:52082481	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3854001	rs_148089143	4 SubmittersRCV000339591 RCV003897802
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)	SNV Germline	Chr6:51748123	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851383	rs_199621305	7 SubmittersRCV000281542 RCV000592543 RCV003902391
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=)	SNV Germline	Chr6:51830982	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3851702	rs_759658629	3 SubmittersRCV000398092 RCV000734061
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=)	SNV Germline	Chr6:51883222	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3851995	rs_199559837	3 SubmittersRCV000382346 RCV000598017
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr)	SNV Germline	Chr6:51911814	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3852254	rs_750822014	4 SubmittersRCV000404946 RCV005033898 RCV005384705
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)	SNV Germline	Chr6:52024698	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852614	rs_202010726	6 SubmittersRCV000380232 RCV000733100 RCV003932475 RCV001507321
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)	SNV Germline	Chr6:52043665	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided not specified PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853120	rs_200511208	6 SubmittersRCV000323980 RCV000591055 RCV003114511 RCV003932476
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys)	SNV Germline	Chr6:52054042	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3853389	rs_200918134	3 SubmittersRCV000290453 RCV002524496 RCV004772904
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)	SNV Germline	Chr6:52054154	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853410	rs_776570716	3 SubmittersRCV000390760
NM_138694.4(PKHD1):c.1233+1G>A	SNV Germline	Chr6:52059927	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10627219	rs_886061623	4 SubmittersRCV000315696 RCV003225063
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)	SNV Germline	Chr6:52065027	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3853704	rs_779418460	4 SubmittersRCV000275791 RCV004649142
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)	SNV Germline	Chr6:52082523	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3854012	rs_529214120	4 SubmittersRCV000299889 RCV003970044
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=)	SNV Germline	Chr6:51867961	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851884	rs_779757789	3 SubmittersRCV000389455 RCV004748745
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)	SNV Germline	Chr6:51959949	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852419	rs_376709130	6 SubmittersRCV000367037 RCV000596174 RCV005365259 RCV003922578
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=)	SNV Germline	Chr6:52022880	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA10627252	rs_886061618	2 SubmittersRCV000270611
NM_138694.4(PKHD1):c.3629-15G>A	SNV Germline	Chr6:52026196	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852874	rs_375870003	2 SubmittersRCV000352601
NM_138694.4(PKHD1):c.708-4G>A	SNV Germline	Chr6:52069531	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853797	rs_748018742	2 SubmittersRCV000293518
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)	SNV Germline	Chr6:51748665	Likely pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA10654916	rs_1057516201	1 SubmittersRCV000408884
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)	SNV Germline	Chr6:51648115	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16041022	rs_199839578	10 SubmittersRCV000411765 RCV002504202 RCV005398497
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)	SNV Germline	Chr6:51659417	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA16041025	rs_1057516345	2 SubmittersRCV000410089 RCV005430293
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	SNV Germline	Chr6:51746818	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851295	rs_757099749	4 SubmittersRCV000410535 RCV002505992
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)	SNV Germline	Chr6:51747898	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041031	rs_1057516577	7 SubmittersRCV000411085 RCV000727620 RCV003463795
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)	SNV Germline	Chr6:51747933	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041032	rs_1057516445	3 SubmittersRCV000411250 RCV005430299
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)	SNV Germline	Chr6:51867900	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA16041041	rs_1057516751	2 SubmittersRCV000412217 RCV005430319
NM_138694.4(PKHD1):c.7350+1G>T	SNV Germline	Chr6:51883092	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041042	rs_1057516588	4 SubmittersRCV000411686 RCV002488838
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)	SNV Germline	Chr6:51903683	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA16041045	rs_1057516441	2 SubmittersRCV000409558 RCV005430298
NM_138694.4(PKHD1):c.5752-2A>G	SNV Germline	Chr6:51960028	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041049	rs_1057516407	5 SubmittersRCV000409067 RCV001332899
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)	SNV Germline	Chr6:52017497	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3852499	rs_777999875	7 SubmittersRCV000411938 RCV002488836
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	SNV Germline	Chr6:52017525	Pathogenic	Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3852502	rs_774759689	7 SubmittersRCV000410933 RCV001844829 RCV003463799 RCV005411419
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	SNV Germline	Chr6:52024928	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3852648	rs_267601070	6 SubmittersRCV000410465 RCV003463803
NM_138694.4(PKHD1):c.3229-2A>C	SNV Germline	Chr6:52033167	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041062	rs_1057516872	4 SubmittersRCV000410242 RCV002502426
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)	SNV Germline	Chr6:52050172	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041067	rs_1057517158	6 SubmittersRCV000408967 RCV000598488 RCV004748747 RCV003463802
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)	SNV Germline	Chr6:52069487	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA16041071	rs_1057516768	2 SubmittersRCV000411384 RCV005430320
NM_138694.4(PKHD1):c.603-2A>G	SNV Germline	Chr6:52071072	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853845	rs_757521428	6 SubmittersRCV000411920 RCV003475940
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)	SNV Germline	Chr6:51748040	Conflicting classifications of pathogenicity	Condition: not provided PKHD1-related disorder Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851368	rs_201670044	4 SubmittersRCV000415965 RCV003950325 RCV001272768
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)	SNV Germline	Chr6:52058493	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853582	rs_149781976	14 SubmittersRCV000415990 RCV000669988 RCV001844830 RCV003922678 RCV005430532
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	SNV Germline	Chr6:51748086	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided PKHD1-related disorder Biliary tract abnormality	Criteria Provided Conflicting Classifications	CA3851379	rs_200511261	11 SubmittersRCV000502876 RCV001336942 RCV000444254 RCV003418109 RCV005625589
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	SNV Germline	Chr6:51934319	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3852378	rs_180675584	9 SubmittersRCV000440845 RCV001004198 RCV001775118 RCV004748752
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	SNV Germline	Chr6:52046182	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Biliary tract abnormality	Criteria Provided Conflicting Classifications	CA3853210	rs_199531851	9 SubmittersRCV000432815 RCV001004207 RCV003152602 RCV005625590
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys)	SNV Germline	Chr6:51746721	Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16605053	rs_1057524563	2 SubmittersRCV000444258 RCV001828451
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)	SNV Germline	Chr6:52042976	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853068	rs_757854282	3 SubmittersRCV000449535 RCV005044652
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)	SNV Germline	Chr6:51619200	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided not specified Inborn genetic diseases Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3850617	rs_201210830	7 SubmittersRCV000457190 RCV000592520 RCV001193199 RCV003243135 RCV005044665
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)	SNV Germline	Chr6:51883179	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Autosomal dominant polycystic liver disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851986	rs_201881567	15 SubmittersRCV000457585 RCV000729736 RCV001844833 RCV003334387 RCV003942478
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)	SNV Germline	Chr6:51903686	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3852124	rs_751084512	3 SubmittersRCV000474720 RCV002481410
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	SNV Germline	Chr6:52071009	Pathogenic/Likely pathogenic	Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder See cases Biliary tract abnormality	Criteria Provided Multiple Submitters No Conflicts	CA3853831	rs_369925690	25 SubmittersRCV001262841 RCV000467466 RCV000681918 RCV003401465 RCV003985354 RCV005625611
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)	SNV Germline	Chr6:51649171	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3850924	rs_557211301	5 SubmittersRCV000463053 RCV001357091 RCV003932735
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)	SNV Germline	Chr6:52026006	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852834	rs_201769990	5 SubmittersRCV000464682 RCV000730656 RCV003960062
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)	SNV Germline	Chr6:52050167	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Autosomal dominant polycystic liver disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3853290	rs_777183511	5 SubmittersRCV000472049 RCV002481409 RCV001844832 RCV005411438
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)	SNV Germline	Chr6:51746842	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16612174	rs_1060501356	2 SubmittersRCV000476666 RCV005044666
NM_138694.4(PKHD1):c.8555-2A>C	SNV Germline	Chr6:51772791	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA138907851	rs_1020621286	7 SubmittersRCV000492982 RCV001004192 RCV001775124 RCV003419833
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	SNV Germline	Chr6:51748320	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA3851414	rs_757946548	5 SubmittersRCV000498382 RCV003464070 RCV001829415
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)	SNV Germline	Chr6:51959953	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA364421541	rs_1210846081	6 SubmittersRCV000500109 RCV002506218 RCV001291854
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_138694.4(PKHD1):c.7351-1G>C	SNV Germline	Chr6:51870640	Pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA364419866	rs_1554282540	1 SubmittersRCV000505653
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)	SNV Germline	Chr6:52071011	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	No Assertion Criteria Provided	CA364433270	rs_1554223332	2 SubmittersRCV000505612 RCV005430543
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)	SNV Germline	Chr6:51746794	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Autosomal dominant polycystic liver disease Polycystic kidney disease 4 Inborn genetic diseases PKHD1-related disorder Renal cyst	Criteria Provided Conflicting Classifications	CA3851291	rs_45627337	12 SubmittersRCV000509311 RCV000594183 RCV001844835 RCV002470891 RCV002527385 RCV004748796 RCV005625653
NM_001377.3(DYNC2H1):c.10042+2T>G	SNV Germline	Chr11:103245376	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Asphyxiating thoracic dystrophy 3 Autosomal recessive polycystic kidney disease Jeune thoracic dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382246199	rs_1261505725	6 SubmittersRCV000516017 RCV001291173 RCV001328199 RCV001857881 RCV003159657
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	SNV Germline	Chr16:2100560	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease, adult type Polycystic kidney disease PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease	Criteria Provided Conflicting Classifications	CA394356683	rs_1555449635	8 SubmittersRCV000516248 RCV001095636 RCV001292225 RCV005407672
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)	SNV Germline	Chr16:2108418	Conflicting classifications of pathogenicity	not specified Condition: not provided Polycystic kidney disease, adult type Polycystic kidney disease PKD1-related disorder PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease	Criteria Provided Conflicting Classifications	CA7831481	rs_139971481	10 SubmittersRCV000517469 RCV000658732 RCV000989454 RCV001292268 RCV004740300 RCV005407671
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)	SNV Germline	Chr6:52024575	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852583	rs_187667255	4 SubmittersRCV000597437 RCV001082991 RCV003925601
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)	SNV Germline	Chr6:52025611	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852760	rs_191201723	8 SubmittersRCV000529518 RCV000733218 RCV003476228
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)	SNV Germline	Chr6:52043635	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364442529	rs_1344820986	8 SubmittersRCV000548550 RCV001535924 RCV003925600
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)	SNV Germline	Chr6:51632618	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364420082	rs_1554167673	3 SubmittersRCV000546671 RCV004568753
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser)	SNV Germline	Chr6:51659498	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364433489	rs_1554183398	1 SubmittersRCV000557856
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly)	SNV Germline	Chr6:51934247	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364417853	rs_1554144359	1 SubmittersRCV000550974
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)	SNV Germline	Chr6:51748063	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive polycystic kidney disease PKHD1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3851373	rs_145651593	8 SubmittersRCV000592975 RCV000780599 RCV001087159 RCV003962477 RCV002527687
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln)	SNV Germline	Chr6:52042975	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA138961789	rs_753169961	5 SubmittersRCV000526795 RCV000733108 RCV004023792
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)	SNV Germline	Chr6:52062660	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA138918438	rs_778329699	5 SubmittersRCV000545902 RCV001755812 RCV002483376
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	SNV Germline	Chr6:51659952	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4 Biliary tract abnormality	Criteria Provided Multiple Submitters No Conflicts	CA3851135	rs_201082169	13 SubmittersRCV000578239 RCV001249102 RCV003420014 RCV002470913 RCV005625689
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)	SNV Germline	Chr6:51830957	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851697	rs_764880309	9 SubmittersRCV000588557 RCV000765885 RCV003465327
NM_138694.4(PKHD1):c.11507-11C>T	SNV Germline	Chr6:51632734	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3850796	rs_201478327	5 SubmittersRCV000586413 RCV001162834 RCV001555004 RCV005357779
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)	SNV Germline	Chr6:51847870	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA138910869	rs_778592523	5 SubmittersRCV000588359 RCV001246327 RCV002506403 RCV004955675
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)	SNV Germline	Chr6:52053236	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA364444545	rs_1554214097	3 SubmittersRCV000590035 RCV001834859
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)	SNV Germline	Chr6:52025971	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3852825	rs_374233100	4 SubmittersRCV001274854 RCV000587125 RCV002483572 RCV004024688
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)	SNV Germline	Chr6:51906241	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852183	rs_146102132	5 SubmittersRCV001479944 RCV000593640 RCV003160006 RCV003915687
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)	SNV Germline	Chr6:51659267	Conflicting classifications of pathogenicity	Condition: not provided PKHD1-related disorder Autosomal recessive polycystic kidney disease Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3851006	rs_149163661	9 SubmittersRCV000595376 RCV003925761 RCV000816584 RCV002532360 RCV003151109
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	SNV Germline	Chr6:52017512	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852501	rs_201105958	12 SubmittersRCV000592600 RCV000723529 RCV004748832 RCV003471950
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)	SNV Germline	Chr6:51659124	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3850975	rs_114237522	5 SubmittersRCV001086538 RCV000592223 RCV003945382
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)	SNV Germline	Chr6:52054089	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Inborn genetic diseases Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853396	rs_181546197	6 SubmittersRCV001163765 RCV000592067 RCV004024712 RCV003133389 RCV003905514
NM_138694.4(PKHD1):c.602+1G>A	SNV Germline	Chr6:52072114	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364434554	rs_1554223950	4 SubmittersRCV000597077 RCV001378086 RCV003471952
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)	SNV Germline	Chr6:52050219	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853301	rs_373367366	4 SubmittersRCV000597237 RCV002491181 RCV002531000
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)	SNV Germline	Chr6:52066009	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853741	rs_375145340	6 SubmittersRCV000592287 RCV001860162 RCV003465335 RCV003403388
NM_138694.4(PKHD1):c.9696T>C (p.Ala3232=)	SNV Germline	Chr6:51747920	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA138895910	rs_368588369	2 SubmittersRCV000595260 RCV001413548
NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp)	SNV Germline	Chr6:52026107	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Inborn genetic diseases Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852860	rs_376121326	4 SubmittersRCV001453690 RCV000591315 RCV002532394 RCV005392151
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)	SNV Germline	Chr6:52071015	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853833	rs_199897497	7 SubmittersRCV000593464 RCV001163885 RCV005044880 RCV003935596
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)	SNV Germline	Chr6:51659772	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851095	rs_562503637	6 SubmittersRCV000595378 RCV001034151 RCV003989565 RCV003409859
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)	SNV Germline	Chr6:52050268	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA3853311	rs_150597050	7 SubmittersRCV000591411 RCV000860742 RCV001449937 RCV003431134
NM_138694.4(PKHD1):c.624T>C (p.His208=)	SNV Germline	Chr6:52071049	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853840	rs_767511678	4 SubmittersRCV000592399 RCV001088951 RCV003915703
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)	SNV Germline	Chr6:52050181	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853294	rs_200654041	6 SubmittersRCV000592931 RCV001163477 RCV005034163
NM_138694.4(PKHD1):c.6795T>C (p.His2265=)	SNV Germline	Chr6:51906228	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852179	rs_186227053	2 SubmittersRCV000594096 RCV001089233
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)	SNV Germline	Chr6:52025972	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852826	rs_144042993	7 SubmittersRCV000595392 RCV000802278 RCV002531030 RCV004748835
NM_138694.4(PKHD1):c.1737G>A (p.Thr579=)	SNV Germline	Chr6:52055686	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853458	rs_765871629	2 SubmittersRCV000594152 RCV001087669
NM_138694.4(PKHD1):c.5752-9G>A	SNV Germline	Chr6:51960035	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852428	rs_184441390	3 SubmittersRCV000591074 RCV001089421
NM_138694.4(PKHD1):c.5586G>A (p.Ser1862=)	SNV Germline	Chr6:52017424	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450417480	rs_1372900985	2 SubmittersRCV000592262 RCV003611521
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)	SNV Germline	Chr6:52079956	Conflicting classifications of pathogenicity	Condition: not provided not specified Polycystic kidney disease Autosomal dominant polycystic liver disease Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853963	rs_149841071	10 SubmittersRCV000595963 RCV001290597 RCV001292159 RCV001844839 RCV000671191 RCV005044887
NM_138694.4(PKHD1):c.2448C>T (p.Leu816=)	SNV Germline	Chr6:52046148	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853203	rs_771790015	2 SubmittersRCV000596189 RCV001476854
NM_138694.4(PKHD1):c.881-1G>A	SNV Germline	Chr6:52065051	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364429821	rs_1554220431	7 SubmittersRCV000594446 RCV000726993 RCV001580522
NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=)	SNV Germline	Chr6:51855917	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851808	rs_146083613	2 SubmittersRCV000593498 RCV001452817
NM_138694.4(PKHD1):c.778+10C>G	SNV Germline	Chr6:52069447	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA658796776	rs_1365502451	3 SubmittersRCV000596343 RCV001455456 RCV003900326
NM_138694.4(PKHD1):c.2217G>T (p.Pro739=)	SNV Germline	Chr6:52050219	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853302	rs_373367366	3 SubmittersRCV000596653 RCV001445253 RCV005034166
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=)	SNV Germline	Chr6:51830976	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851701	rs_149310653	3 SubmittersRCV000594681 RCV001087255 RCV003915715
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	SNV Germline	Chr6:51867879	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Autosomal dominant polycystic liver disease	Criteria Provided Conflicting Classifications	CA3851871	rs_752994816	9 SubmittersRCV000592239 RCV000668244 RCV001810463 RCV001844840
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)	SNV Germline	Chr6:52024617	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852594	rs_146531432	5 SubmittersRCV000594808 RCV001083334 RCV003962691
NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp)	SNV Germline	Chr6:51836457	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851730	rs_201254195	4 SubmittersRCV000591619 RCV001455016 RCV002532508 RCV005034167
NM_138694.4(PKHD1):c.4380C>T (p.Asn1460=)	SNV Germline	Chr6:52025430	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852731	rs_371934160	2 SubmittersRCV000592318 RCV001393955
NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=)	SNV Germline	Chr6:51847925	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851779	rs_556212333	2 SubmittersRCV000591999 RCV001477670
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)	SNV Germline	Chr6:52079957	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853964	rs_145815264	4 SubmittersRCV000597760 RCV001080377
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=)	SNV Germline	Chr6:51934189	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852359	rs_373208457	3 SubmittersRCV000596253 RCV001438016 RCV003900338
NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=)	SNV Germline	Chr6:51619105	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3850597	rs_750988521	2 SubmittersRCV000596589 RCV001472732
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)	SNV Germline	Chr6:51887151	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3852058	rs_76260483	7 SubmittersRCV000593964 RCV000860707 RCV003133390 RCV003927931 RCV004721471
NM_138694.4(PKHD1):c.1234-9T>C	SNV Germline	Chr6:52058610	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853605	rs_200707468	6 SubmittersRCV000594972 RCV001087022
NM_138694.4(PKHD1):c.8798-7G>A	SNV Germline	Chr6:51753360	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA658796772	rs_1554220805	2 SubmittersRCV000593024 RCV001414200
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)	SNV Germline	Chr6:51619108	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3850599	rs_147051900	4 SubmittersRCV000598127 RCV001083955 RCV003952995
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)	SNV Germline	Chr6:52050274	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3853314	rs_140608845	6 SubmittersRCV000595818 RCV000633433 RCV003927935 RCV004760640
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)	SNV Germline	Chr6:51632623	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3850780	rs_752509045	4 SubmittersRCV000597922 RCV001272767 RCV003945430
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)	SNV Germline	Chr6:51659233	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA450612759	rs_1290859259	3 SubmittersRCV000592861 RCV002532612 RCV003900349
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr)	SNV Germline	Chr6:52025360	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852720	rs_144905283	5 SubmittersRCV000592486 RCV001400967 RCV004748845
NM_138694.4(PKHD1):c.2280-10C>T	SNV Germline	Chr6:52048629	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications	CA3853263	rs_749295454	4 SubmittersRCV000593882 RCV001082366 RCV001174910
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=)	SNV Germline	Chr6:52024998	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852667	rs_780533224	3 SubmittersRCV000594435 RCV001407345
NM_138694.4(PKHD1):c.8107+8T>G	SNV Germline	Chr6:51847767	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851754	rs_368339881	4 SubmittersRCV000597059 RCV001086655
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)	SNV Germline	Chr6:52024939	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852650	rs_190396031	6 SubmittersRCV000596307 RCV001088747 RCV002470925 RCV003953000
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)	SNV Germline	Chr6:52058528	Conflicting classifications of pathogenicity	Inborn genetic diseases Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3853588	rs_146789444	6 SubmittersRCV004024858 RCV000765892 RCV003927945 RCV000597573
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)	SNV Germline	Chr6:52025976	Conflicting classifications of pathogenicity	PKHD1-related disorder Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852828	rs_145960781	4 SubmittersRCV003915738 RCV000592266 RCV001084430
NM_138694.4(PKHD1):c.7734-6C>A	SNV Germline	Chr6:51856076	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851847	rs_367564272	4 SubmittersRCV000591197 RCV001174777 RCV001088505
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)	SNV Germline	Chr6:51791341	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851659	rs_144106341	5 SubmittersRCV000595130 RCV001085949 RCV003420049
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)	SNV Germline	Chr6:51659216	Conflicting classifications of pathogenicity	Polycystic kidney disease 4 Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3850991	rs_371329493	5 SubmittersRCV005392159 RCV000596248 RCV001159983 RCV002532684
NM_138694.4(PKHD1):c.708-5C>T	SNV Germline	Chr6:52069532	Conflicting classifications of pathogenicity	Condition: not provided PKHD1-related disorder Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853798	rs_371844893	4 SubmittersRCV000592255 RCV003900360 RCV005034180 RCV001428619
NM_138694.4(PKHD1):c.2141-4C>G	SNV Germline	Chr6:52050299	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA138967898	rs_1042054004	3 SubmittersRCV000599094 RCV001276780
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)	SNV Germline	Chr6:51748470	Likely pathogenic	Inborn genetic diseases Polycystic kidney disease Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851440	rs_367678592	7 SubmittersRCV000624573 RCV001292490 RCV001377108 RCV005409688 RCV003471977
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)	SNV Germline	Chr6:51830878	Likely pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA364423006	rs_1554263076	1 SubmittersRCV000625613
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)	SNV Germline	Chr6:51747970	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851359	rs_758732107	2 SubmittersRCV000633429 RCV003459514
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)	SNV Germline	Chr6:51856068	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851845	rs_78361537	6 SubmittersRCV000633430 RCV000731742 RCV005034207 RCV004748870
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)	SNV Germline	Chr6:51870560	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA364419539	rs_1366295189	5 SubmittersRCV000633422 RCV000731567 RCV002477389
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)	SNV Germline	Chr6:52084911	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3854076	rs_750588859	5 SubmittersRCV000633432 RCV001569911 RCV003432661 RCV005034208
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	SNV Germline	Chr6:51791359	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3851664	rs_747322128	11 SubmittersRCV000633431 RCV000681915 RCV002499047 RCV003392471
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)	SNV Germline	Chr6:52028253	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364440564	rs_1554200780	2 SubmittersRCV000633434 RCV002499048
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)	SNV Germline	Chr6:52060038	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853636	rs_376040501	12 SubmittersRCV000633428 RCV000681916 RCV001784205 RCV004748869
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	SNV Germline	Chr6:51619425	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3850669	rs_144193508	9 SubmittersRCV000665966 RCV001784237 RCV002245081
NM_138694.4(PKHD1):c.11785+1G>T	SNV Germline	Chr6:51626996	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364418276	rs_1488844530	2 SubmittersRCV000670802 RCV005430681
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)	SNV Germline	Chr6:51748245	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364421229	rs_373241537	3 SubmittersRCV000666787 RCV005430448
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)	SNV Germline	Chr6:51753258	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851498	rs_770068023	3 SubmittersRCV000672675 RCV005430740
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)	SNV Germline	Chr6:51775810	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364437636	rs_1554232224	4 SubmittersRCV000667214 RCV003387905
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)	SNV Germline	Chr6:51934134	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852352	rs_369626030	5 SubmittersRCV000670644 RCV003472125
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)	SNV Germline	Chr6:52022858	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3852544	rs_770522674	9 SubmittersRCV000664790 RCV002305527 RCV002507150 RCV004748888
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)	SNV Germline	Chr6:52069498	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA138921720	rs_1037991711	2 SubmittersRCV000667175 RCV005430558
NM_138694.4(PKHD1):c.282-2A>T	SNV Germline	Chr6:52080010	Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364439816	rs_1554227278	4 SubmittersRCV000667904 RCV000998621 RCV003465479
NM_138694.4(PKHD1):c.53-2A>G	SNV Germline	Chr6:52083257	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	No Assertion Criteria Provided	CA364441045	rs_1554228601	2 SubmittersRCV005606700 RCV005430820
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)	SNV Germline	Chr6:51649177	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 not specified	Criteria Provided Conflicting Classifications	CA364426388	rs_1554176504	4 SubmittersRCV000669544 RCV005046883 RCV004702289
NM_138694.4(PKHD1):c.9998+1G>T	SNV Germline	Chr6:51746720	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364419178	rs_1554217691	3 SubmittersRCV000671557 RCV003459627
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	SNV Germline	Chr6:51748246	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364421233	rs_1554218666	6 SubmittersRCV000670899 RCV003465502
NM_138694.4(PKHD1):c.11665+1G>A	SNV Germline	Chr6:51632564	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3850767	rs_759851475	7 SubmittersRCV000671482 RCV001784270
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)	SNV Germline	Chr6:51649111	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364425853	rs_1229349983	4 SubmittersRCV000675040 RCV003465541
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)	SNV Germline	Chr6:51747987	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA3851361	rs_141081295	7 SubmittersRCV000664770 RCV003129981 RCV004719925
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)	SNV Germline	Chr6:51748557	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851455	rs_757148837	3 SubmittersRCV000674611 RCV004568567
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)	SNV Germline	Chr6:52024681	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Renal cyst Condition: not provided not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852607	rs_749294509	6 SubmittersRCV000665691 RCV001526534 RCV003442011 RCV001293534 RCV005430418
NM_138694.4(PKHD1):c.7912-1G>A	SNV Germline	Chr6:51847971	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364429636	rs_1160209891	2 SubmittersRCV000666936 RCV005430455
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)	SNV Germline	Chr6:51627042	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3850719	rs_761704401	6 SubmittersRCV000670650 RCV003392511 RCV003459618
NM_138694.4(PKHD1):c.2822-1G>C	SNV Germline	Chr6:52043135	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364442491	rs_1554208257	3 SubmittersRCV000671833 RCV003459631
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)	SNV Germline	Chr6:52065000	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA3853700	rs_890884615	2 SubmittersRCV000670400 RCV005430667
NM_138694.4(PKHD1):c.7486+1G>T	SNV Germline	Chr6:51870503	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364419285	rs_1554282419	2 SubmittersRCV000672762 RCV005430742
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)	SNV Germline	Chr6:51744483	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 not specified	Criteria Provided Conflicting Classifications	CA3851258	rs_777377414	5 SubmittersRCV000673683 RCV000788834 RCV003459642 RCV003330894
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)	SNV Germline	Chr6:52084923	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364441137	rs_1554229312	4 SubmittersRCV000673461 RCV004568554
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)	SNV Germline	Chr6:51887175	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852065	rs_141360909	8 SubmittersRCV000665022 RCV000727569 RCV004748889 RCV005430399
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)	SNV Germline	Chr6:52084933	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3854082	rs_376987651	4 SubmittersRCV000665223 RCV001292012 RCV002477480
NM_138694.4(PKHD1):c.6809-2A>G	SNV Germline	Chr6:51904044	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364430858	rs_1340926191	4 SubmittersRCV000670931 RCV002499176
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)	SNV Germline	Chr6:52017489	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA138936187	rs_913487671	4 SubmittersRCV000666915 RCV003403545 RCV005430453
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)	SNV Germline	Chr6:52017562	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364426119	rs_1554194511	3 SubmittersRCV000665876 RCV005430422
NM_138694.4(PKHD1):c.8555-2A>G	SNV Germline	Chr6:51772791	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364435817	rs_1020621286	2 SubmittersRCV000669137 RCV004568521
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)	SNV Germline	Chr6:52025393	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364433310	rs_1554198717	3 SubmittersRCV000671958 RCV005046894
NM_138694.4(PKHD1):c.7350+653A>G	SNV Germline	Chr6:51882440	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA658822578	rs_1240212722	8 SubmittersRCV000667179 RCV002272320 RCV005415584
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)	SNV Germline	Chr6:51903693	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3852126	rs_776060304	7 SubmittersRCV000674293 RCV001565179 RCV003411585 RCV003472168
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)	SNV Germline	Chr6:52043020	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853073	rs_747895516	4 SubmittersRCV000668499 RCV003459597
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)	SNV Germline	Chr6:52043102	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364442421	rs_773136605	2 SubmittersRCV000664542 RCV005430386
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)	SNV Germline	Chr6:51934157	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA364417659	rs_1554144226	6 SubmittersRCV000667357 RCV003442013 RCV005208145
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	SNV Germline	Chr6:52050220	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853303	rs_758352210	6 SubmittersRCV000664559 RCV003472063
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)	SNV Germline	Chr6:52026063	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3852850	rs_748540413	7 SubmittersRCV000667920 RCV003236830 RCV003459590 RCV003918107
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)	SNV Germline	Chr6:52058438	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853568	rs_750730042	6 SubmittersRCV000666503 RCV003459579
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)	SNV Germline	Chr6:52058438	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA138916776	rs_750730042	8 SubmittersRCV000671679 RCV002509503 RCV001784272
NM_138694.4(PKHD1):c.707+2T>C	SNV Germline	Chr6:52070404	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364432788	rs_1554222939	2 SubmittersRCV000665516 RCV005430410
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)	SNV Germline	Chr6:52062542	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364428421	rs_1554219429	3 SubmittersRCV000665124 RCV004568489
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)	SNV Germline	Chr6:52065011	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364429585	rs_1288017883	3 SubmittersRCV000667097 RCV005430555
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)	SNV Germline	Chr6:52066046	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853750	rs_754448530	3 SubmittersRCV000666991 RCV002499157
NM_138694.4(PKHD1):c.53-1G>A	SNV Germline	Chr6:52083256	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3854051	rs_775511838	6 SubmittersRCV000666433 RCV002499152
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)	SNV Germline	Chr6:52079950	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA364439597	rs_1554227215	2 SubmittersRCV000677707
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)	SNV Germline	Chr16:2092492	Pathogenic	Condition: not provided Polycystic kidney disease, adult type Polycystic kidney disease PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease	Criteria Provided Multiple Submitters No Conflicts	CA394336136	rs_1167476946	7 SubmittersRCV000681771 RCV001283789 RCV001291995 RCV005407879
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)	SNV Germline	Chr6:52044979	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Caroli disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3853146	rs_764696718	6 SubmittersRCV000700684 RCV001810482 RCV001507099 RCV002469268
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	SNV Germline	Chr6:51747897	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA138895870	rs_146649803	7 SubmittersRCV000694411 RCV002493192
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)	SNV Germline	Chr6:51906282	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852189	rs_750190287	4 SubmittersRCV000728703 RCV001085990 RCV004748905
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)	SNV Germline	Chr6:52076296	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853934	rs_141093030	5 SubmittersRCV000700536 RCV001759393 RCV002485720
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)	SNV Germline	Chr6:51659724	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851085	rs_748863662	4 SubmittersRCV000706858 RCV005046968
NM_138694.4(PKHD1):c.5751+1G>A	SNV Germline	Chr6:52010308	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA138929931	rs_775638588	4 SubmittersRCV000685078 RCV002493135 RCV003332226
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)	SNV Germline	Chr6:51659916	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851129	rs_147612089	7 SubmittersRCV000727592 RCV000814275 RCV003151141 RCV002535047 RCV003953290
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)	SNV Germline	Chr6:51748247	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851398	rs_745523374	6 SubmittersRCV000727601 RCV001165018 RCV001579056 RCV003892600
NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr)	SNV Germline	Chr6:51748462	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851439	rs_765526	3 SubmittersRCV000728276 RCV001469642
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)	SNV Germline	Chr6:51883135	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851977	rs_771622189	4 SubmittersRCV000728325 RCV001431382 RCV003918189 RCV005036046
NM_138694.4(PKHD1):c.4554A>G (p.Val1518=)	SNV Germline	Chr6:52025256	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450614420	rs_1562163878	2 SubmittersRCV000728578 RCV001412222
NM_138694.4(PKHD1):c.3628+9C>A	SNV Germline	Chr6:52027820	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852888	rs_552339299	5 SubmittersRCV000728652 RCV001088265 RCV003892606
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)	SNV Germline	Chr6:52058578	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853596	rs_374650666	4 SubmittersRCV000728709 RCV001081968
NM_138694.4(PKHD1):c.5130G>T (p.Pro1710=)	SNV Germline	Chr6:52024680	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852605	rs_769591140	2 SubmittersRCV000728778 RCV001460800
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	SNV Germline	Chr6:51659052	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA501157	rs_769559267	11 SubmittersRCV000728802 RCV001004187 RCV001844843 RCV003465658
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)	SNV Germline	Chr6:52059960	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3853623	rs_192769565	5 SubmittersRCV000728806 RCV000813285 RCV003130027 RCV004026954
NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys)	SNV Germline	Chr6:51746781	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851289	rs_763499782	5 SubmittersRCV000728890 RCV001435317 RCV004026957 RCV004748926 RCV005036053
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)	SNV Germline	Chr6:51747954	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3851356	rs_145141656	7 SubmittersRCV000729058 RCV001239749 RCV002485863 RCV004026962
NM_138694.4(PKHD1):c.1512+9C>G	SNV Germline	Chr6:52058314	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853543	rs_774440496	2 SubmittersRCV000729337 RCV001401864
NM_138694.4(PKHD1):c.7906C>T (p.Leu2636=)	SNV Germline	Chr6:51855898	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851803	rs_568173041	2 SubmittersRCV000729370 RCV001446101
NM_138694.4(PKHD1):c.1693+9C>T	SNV Germline	Chr6:52056689	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853483	rs_753648991	2 SubmittersRCV000729585 RCV001458179
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	SNV Germline	Chr6:51748509	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA138896669	rs_893497345	10 SubmittersRCV000729595 RCV001281214 RCV001526419
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)	SNV Germline	Chr6:51659875	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications	CA3851121	rs_372394177	4 SubmittersRCV000729602 RCV001084412 RCV002222618
NM_138694.4(PKHD1):c.977-7C>G	SNV Germline	Chr6:52062667	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA138918441	rs_1054774956	4 SubmittersRCV000729652 RCV001244705 RCV003908033
NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=)	SNV Germline	Chr6:52028305	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852945	rs_138350291	2 SubmittersRCV000729744 RCV001086178
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)	SNV Germline	Chr6:51659715	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851083	rs_553752644	4 SubmittersRCV000729759 RCV001085424 RCV004748929
NM_138694.4(PKHD1):c.8886C>T (p.Asp2962=)	SNV Germline	Chr6:51753265	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851501	rs_138464473	2 SubmittersRCV000729762 RCV001487514
NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn)	SNV Germline	Chr6:51659612	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851062	rs_200244173	5 SubmittersRCV000729843 RCV003344027 RCV005092137 RCV005036059
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)	SNV Germline	Chr6:51659158	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications	CA450612757	rs_1303599332	3 SubmittersRCV000729845 RCV002067101 RCV001779069
NM_138694.4(PKHD1):c.7626T>C (p.Ser2542=)	SNV Germline	Chr6:51867970	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851887	rs_544539357	2 SubmittersRCV000729925 RCV001481278
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)	SNV Germline	Chr6:52024956	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852654	rs_140674740	4 SubmittersRCV000730273 RCV001085506 RCV003947924
NM_138694.4(PKHD1):c.6564C>T (p.Ile2188=)	SNV Germline	Chr6:51909401	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852230	rs_767464690	2 SubmittersRCV000730299 RCV001444373
NM_138694.4(PKHD1):c.12094C>T (p.Pro4032Ser)	SNV Germline	Chr6:51619212	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3850619	rs_756859994	3 SubmittersRCV000730452 RCV001396667 RCV004649303
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)	SNV Germline	Chr6:52055590	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853430	rs_142922408	3 SubmittersRCV000730531 RCV001087302 RCV003965523
NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=)	SNV Germline	Chr6:51619093	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450410778	rs_1406924877	2 SubmittersRCV000730659 RCV002535160
NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu)	SNV Germline	Chr6:52025857	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852805	rs_200733734	5 SubmittersRCV000730746 RCV001418303 RCV003420301 RCV005357970
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=)	SNV Germline	Chr6:52010354	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852450	rs_755566688	3 SubmittersRCV000730764 RCV001087402
NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu)	SNV Germline	Chr6:52028264	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3852934	rs_574099162	4 SubmittersRCV000730876 RCV001453752 RCV004649304
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)	SNV Germline	Chr6:51855994	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851831	rs_201091083	5 SubmittersRCV000730885 RCV000862301 RCV003938109
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)	SNV Germline	Chr6:51885912	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852027	rs_368101035	4 SubmittersRCV000730934 RCV001469182 RCV003947926
NM_138694.4(PKHD1):c.868G>A (p.Val290Ile)	SNV Germline	Chr6:52065988	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853737	rs_773123823	4 SubmittersRCV000731006 RCV002060998 RCV004800562 RCV005036063
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)	SNV Germline	Chr6:51619159	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA450410823	rs_1561967407	3 SubmittersRCV000731123 RCV001494344 RCV003983190
NM_138694.4(PKHD1):c.8970T>C (p.Asn2990=)	SNV Germline	Chr6:51748646	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450614196	rs_1293255485	2 SubmittersRCV000731173 RCV002067113
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)	SNV Germline	Chr6:52024677	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852603	rs_144841026	3 SubmittersRCV000731259 RCV001494248 RCV003965528
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)	SNV Germline	Chr6:52017490	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852498	rs_535128714	4 SubmittersRCV000731260 RCV001087601 RCV001507322 RCV004748938
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)	SNV Germline	Chr6:51791312	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851654	rs_777017196	3 SubmittersRCV000731738 RCV001451525 RCV003892640
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)	SNV Germline	Chr6:52046133	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853202	rs_9474136	4 SubmittersRCV000731927 RCV001160097
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)	SNV Germline	Chr6:51747953	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851355	rs_371508721	4 SubmittersRCV000731936 RCV001086246 RCV003928238
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)	SNV Germline	Chr6:52022922	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852552	rs_200864129	3 SubmittersRCV000732041 RCV001078822
NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His)	SNV Germline	Chr6:51748045	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851369	rs_372102850	5 SubmittersRCV000732167 RCV001470943 RCV003165982 RCV005046994
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)	SNV Germline	Chr6:52046152	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853205	rs_145789167	6 SubmittersRCV000732312 RCV001160098 RCV002535265 RCV005392340
NM_138694.4(PKHD1):c.7758T>C (p.Tyr2586=)	SNV Germline	Chr6:51856046	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851839	rs_769256062	2 SubmittersRCV000732379 RCV002061009
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)	SNV Germline	Chr6:52055658	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853454	rs_137972270	4 SubmittersRCV000732510 RCV001158858 RCV005046996
NM_138694.4(PKHD1):c.4341G>A (p.Leu1447=)	SNV Germline	Chr6:52025469	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450614612	rs_1562165566	2 SubmittersRCV000732561 RCV002535279
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)	SNV Germline	Chr6:51883159	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851983	rs_200807210	3 SubmittersRCV000732563 RCV001079187
NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=)	SNV Germline	Chr6:51867931	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851878	rs_373409786	2 SubmittersRCV000732889 RCV001088194
NM_138694.4(PKHD1):c.10524C>A (p.Val3508=)	SNV Germline	Chr6:51659602	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450613163	rs_1562042503	2 SubmittersRCV000732919 RCV001459282
NM_138694.4(PKHD1):c.3393G>A (p.Ala1131=)	SNV Germline	Chr6:52028323	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450615178	rs_1562177292	2 SubmittersRCV000733075 RCV001449132
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	SNV Germline	Chr6:51627035	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3850716	rs_760426769	5 SubmittersRCV000733087 RCV001004184 RCV002485925 RCV003892657
NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=)	SNV Germline	Chr6:51775896	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA138908801	rs_974957771	2 SubmittersRCV000733145 RCV001504049
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)	SNV Germline	Chr6:52058580	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853598	rs_138672830	6 SubmittersRCV000733367 RCV001088603 RCV005036069 RCV002535325 RCV004748950
NM_138694.4(PKHD1):c.7956G>T (p.Leu2652=)	SNV Germline	Chr6:51847926	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851780	rs_375920156	2 SubmittersRCV000733392 RCV001453287
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)	SNV Germline	Chr6:52025975	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852827	rs_201611688	6 SubmittersRCV000733515 RCV000863592 RCV003938122 RCV005357976
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)	SNV Germline	Chr6:52065983	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853736	rs_769773725	4 SubmittersRCV000733844 RCV001437834 RCV003892665
NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His)	SNV Germline	Chr6:52017599	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852515	rs_151160618	6 SubmittersRCV000734169 RCV001475419 RCV002535370 RCV005047006 RCV004748955
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)	SNV Germline	Chr6:52066025	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853744	rs_142678486	3 SubmittersRCV000734196 RCV001465273 RCV003918225
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)	SNV Germline	Chr6:51748271	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851405	rs_760710708	5 SubmittersRCV000734373 RCV001089295 RCV003928247
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)	SNV Germline	Chr6:52044984	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA450420402	rs_1562217633	4 SubmittersRCV000734458 RCV000820942 RCV003965550
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)	SNV Germline	Chr6:52025982	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450614914	rs_1373102999	3 SubmittersRCV000734496 RCV001078959
NM_138694.4(PKHD1):c.5787C>T (p.Ser1929=)	SNV Germline	Chr6:51959991	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA450416438	rs_1561990875	2 SubmittersRCV000734497 RCV001400195
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)	SNV Germline	Chr6:52025263	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852703	rs_200278368	4 SubmittersRCV000734548 RCV001034185 RCV001449925
NM_138694.4(PKHD1):c.2610T>C (p.Leu870=)	SNV Germline	Chr6:52045071	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA138963565	rs_368451393	2 SubmittersRCV000734585 RCV001487748
NM_138694.4(PKHD1):c.3432C>T (p.His1144=)	SNV Germline	Chr6:52028284	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852939	rs_376881116	3 SubmittersRCV000734593 RCV001455470
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)	SNV Germline	Chr6:52062654	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853666	rs_770494581	7 SubmittersRCV000734720 RCV001332901 RCV001004214
NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=)	SNV Germline	Chr6:51748334	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851418	rs_113402912	3 SubmittersRCV000734723 RCV001419871 RCV005036075
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)	SNV Germline	Chr6:51659595	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851058	rs_112030234	6 SubmittersRCV000734724 RCV001033975 RCV003243285 RCV003424325
NM_138694.4(PKHD1):c.5283T>G (p.Ser1761=)	SNV Germline	Chr6:52022898	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852546	rs_759156564	2 SubmittersRCV000734939 RCV001427804
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)	SNV Germline	Chr6:52024944	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852651	rs_571966529	3 SubmittersRCV001086403 RCV000735023 RCV003955483
NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser)	SNV Germline	Chr6:51911810	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852253	rs_577306911	3 SubmittersRCV000735073 RCV001499167 RCV005047010
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)	SNV Germline	Chr6:52025544	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852748	rs_146468152	4 SubmittersRCV000735119 RCV001079793 RCV003908061
NM_138694.4(PKHD1):c.9829+1G>A	SNV Germline	Chr6:51747786	Likely pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA364419908	rs_1273202231	1 SubmittersRCV000766230
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	SNV Germline	Chr6:52046089	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3853194	rs_199568593	15 SubmittersRCV000788709 RCV000779513 RCV001810485 RCV004748964
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)	SNV Germline	Chr6:51659361	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364432355	rs_780182068	4 SubmittersRCV000781731 RCV003472319
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)	SNV Germline	Chr6:51659382	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851024	rs_148300854	3 SubmittersRCV000781724 RCV002501020
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)	SNV Germline	Chr6:51659776	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA364436139	rs_765652131	2 SubmittersRCV000781723
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)	SNV Germline	Chr6:51746721	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364419182	rs_1057524563	4 SubmittersRCV000781721 RCV002469287 RCV003461059
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)	SNV Germline	Chr6:52055649	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853450	rs_779050294	7 SubmittersRCV000781727 RCV001507664 RCV002477789
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)	SNV Germline	Chr6:52071028	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364433410	rs_557437764	1 SubmittersRCV000781728
NM_138694.4(PKHD1):c.8951-13C>T	SNV Germline	Chr6:51748678	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3851470	rs_112249812	4 SubmittersRCV001158304 RCV000781729 RCV001574413
NM_138694.4(PKHD1):c.8642+1G>A	SNV Germline	Chr6:51772701	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364434739	rs_1485161784	5 SubmittersRCV000781719 RCV003461058
NM_138694.4(PKHD1):c.390+1G>T	SNV Germline	Chr6:52079899	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853953	rs_752327566	8 SubmittersRCV000780595 RCV000788977 RCV001810486
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)	SNV Germline	Chr16:2108511	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease, adult type	Criteria Provided Conflicting Classifications	CA394373142	rs_1567191874	5 SubmittersRCV000785952 RCV000992593 RCV005012305
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)	SNV Germline	Chr6:51753287	Likely pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA364426973	rs_1582469538	1 SubmittersRCV000786871
NM_138694.4(PKHD1):c.8798-2A>T	SNV Germline	Chr6:51753355	Pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided	CA364427322	rs_1582470309	1 SubmittersRCV000786959
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	SNV Germline	Chr6:51775844	Pathogenic/Likely pathogenic	Autosomal dominant polycystic liver disease Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3851606	rs_200432861	7 SubmittersRCV001844847 RCV000788914 RCV003472329 RCV001004194 RCV004748966
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)	SNV Germline	Chr6:52025480	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA364434012	rs_1581808463	3 SubmittersRCV000788601 RCV001220463
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	SNV Germline	Chr6:52028249	Pathogenic/Likely pathogenic	Polycystic kidney disease Condition: not provided Autosomal dominant polycystic liver disease Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Biliary tract abnormality	Criteria Provided Multiple Submitters No Conflicts	CA501158	rs_367707903	11 SubmittersRCV001027935 RCV000788447 RCV001844845 RCV001004206 RCV001810487 RCV003396367 RCV005626211
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	SNV Germline	Chr6:52043092	Conflicting classifications of pathogenicity	Condition: not provided PKHD1-related disorder Autosomal recessive polycystic kidney disease Polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3853085	rs_777158800	6 SubmittersRCV000788922 RCV003928273 RCV001035971 RCV001292497
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)	SNV Germline	Chr6:52062521	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA364428295	rs_1582038191	4 SubmittersRCV000788572 RCV000813103 RCV005036121
NM_138694.4(PKHD1):c.11175-12T>C	SNV Germline	Chr6:51649232	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA825711049	rs_1424171216	2 SubmittersRCV000788882 RCV003611534
NM_138694.4(PKHD1):c.778+1G>C	SNV Germline	Chr6:52069456	Likely pathogenic	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA3853780	rs_753471298	5 SubmittersRCV000788835 RCV003472328 RCV001229792
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)	SNV Germline	Chr6:51638903	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA364421770	rs_1385935333	4 SubmittersRCV000799470 RCV001262018
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)	SNV Germline	Chr6:51747997	Pathogenic/Likely pathogenic	Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364420683	rs_1242089464	6 SubmittersRCV001353367 RCV000814732 RCV004702447 RCV004748981
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)	SNV Germline	Chr6:51748613	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364424247	rs_775628123	2 SubmittersRCV000821994 RCV003461276
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)	SNV Germline	Chr6:52055675	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA138916092	rs_369292828	7 SubmittersRCV000809918 RCV005036182 RCV003117601 RCV005251226
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)	SNV Germline	Chr6:52073520	Pathogenic	Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Single Submitter	CA364436302	rs_1278235097	3 SubmittersRCV000794343 RCV004748968
NM_138694.4(PKHD1):c.11398+2T>C	SNV Germline	Chr6:51648029	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3850881	rs_754038777	3 SubmittersRCV000812342 RCV002470987
NM_138694.4(PKHD1):c.6809-2A>T	SNV Germline	Chr6:51904044	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364430851	rs_1340926191	4 SubmittersRCV000804473 RCV002290976
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)	SNV Germline	Chr6:51885919	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852029	rs_371830478	4 SubmittersRCV000861090 RCV003975368 RCV005036243
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)	SNV Germline	Chr6:51934321	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852379	rs_200730851	4 SubmittersRCV000864081 RCV004749485
NM_138694.4(PKHD1):c.5534A>G (p.Gln1845Arg)	SNV Germline	Chr6:52017476	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3852496	rs_566044331	3 SubmittersRCV000863874 RCV003965675 RCV004588308
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)	SNV Germline	Chr6:52055607	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3853438	rs_560133266	6 SubmittersRCV000861182 RCV003480882 RCV003965634 RCV005036244 RCV003259003
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=)	SNV Germline	Chr6:52024650	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852598	rs_754333450	2 SubmittersRCV000864476
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)	SNV Germline	Chr6:52044978	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3853145	rs_199768081	3 SubmittersRCV000864517 RCV001091110
NM_138694.4(PKHD1):c.11175-10T>G	SNV Germline	Chr6:51649230	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3850932	rs_373424543	3 SubmittersRCV000867555 RCV001358162 RCV005036246
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)	SNV Germline	Chr6:51934177	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852357	rs_774944622	3 SubmittersRCV000875591
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)	SNV Germline	Chr6:52082465	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853996	rs_781485593	4 SubmittersRCV000872201 RCV003948183
NM_138694.4(PKHD1):c.5601-8C>T	SNV Germline	Chr6:52010467	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852466	rs_578030952	4 SubmittersRCV000874147 RCV003955716
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)	SNV Germline	Chr6:51627087	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364418904	rs_1295732689	3 SubmittersRCV000984960 RCV003132130
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)	SNV Unknown	Chr6:52046072	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364443165	rs_1203260419	1 SubmittersRCV000987717
NM_138694.4(PKHD1):c.1693+2T>G	SNV Unknown	Chr6:52056696	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364424849	rs_1581999471	1 SubmittersRCV000987718
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)	SNV Germline	Chr6:52059981	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA364427532	rs_1582024305	3 SubmittersRCV000987719 RCV004702555 RCV005047160
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)	SNV Germline	Chr6:51830924	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364423592	rs_794727756	3 SubmittersRCV000991309 RCV002505501
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_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)	SNV Germline	Chr6:52025623	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA364435183	rs_1581809655	5 SubmittersRCV000995603 RCV004526792 RCV005047175
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)	SNV Unknown	Chr6:52043006	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364442210	rs_1581910796	1 SubmittersRCV001002793
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	SNV Germline	Chr6:51632619	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3850778	rs_754626014	4 SubmittersRCV001004185 RCV002505537
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)	SNV Germline	Chr6:51753216	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851491	rs_765020336	5 SubmittersRCV001004189 RCV002471011
NM_138694.4(PKHD1):c.8174-2A>T	SNV Germline	Chr6:51830991	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter	CA364424049	rs_1582925274	2 SubmittersRCV003611544 RCV002290985
NM_138694.4(PKHD1):c.5751+3A>G	SNV Germline	Chr6:52010306	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA915944271	rs_1581726525	5 SubmittersRCV001004199 RCV002471012
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)	SNV Germline	Chr6:52010310	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 not specified	Criteria Provided Conflicting Classifications	CA364422442	rs_1412045164	4 SubmittersRCV001004200 RCV001786423 RCV003467571 RCV004800658
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)	SNV Germline	Chr6:52025590	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364434847	rs_1464962854	4 SubmittersRCV001004203 RCV003473546
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)	SNV Germline	Chr6:52025663	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364435578	rs_1226122841	1 SubmittersRCV001004204
NM_138694.4(PKHD1):c.2140+1G>A	SNV Germline	Chr6:52053075	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364443963	rs_1554213853	1 SubmittersRCV001004208
NM_138694.4(PKHD1):c.1836+1G>A	SNV Germline	Chr6:52055586	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3853427	rs_780898021	4 SubmittersRCV001004210 RCV002290987 RCV005626296
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)	SNV Germline	Chr6:52055724	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364424834	rs_1581992845	1 SubmittersRCV001004211
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)	SNV Germline	Chr6:52056938	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364425214	rs_1582002018	1 SubmittersRCV001004212
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)	SNV Germline	Chr6:52065033	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364429723	rs_1582053820	4 SubmittersRCV001004215 RCV002466599 RCV003461307
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)	SNV Germline	Chr6:52069504	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364432004	rs_1582085757	1 SubmittersRCV001004216
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)	SNV Germline	Chr6:52071006	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3853829	rs_749454235	5 SubmittersRCV001004217 RCV002290520 RCV003461308
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)	SNV Germline	Chr6:52073516	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364436283	rs_1350620976	5 SubmittersRCV001004218 RCV003325530 RCV003461309
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter)	SNV Germline	Chr6:51638880	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364421655	rs_1768958447	2 SubmittersRCV001050582
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)	SNV Germline	Chr6:51659220	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3850992	rs_765934021	3 SubmittersRCV001048012 RCV004794481
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)	SNV Germline	Chr6:51659712	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364435670	rs_1772510920	2 SubmittersRCV001052108
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys)	SNV Germline	Chr6:51754910	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851549	rs_148990124	3 SubmittersRCV001067523 RCV005622062
NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro)	SNV Germline	Chr6:51775865	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364438101	rs_1790936941	1 SubmittersRCV001066753
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)	SNV Germline	Chr6:51836436	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851727	rs_371665285	4 SubmittersRCV001036025 RCV002269330 RCV005036303
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)	SNV Germline	Chr6:51836455	Pathogenic	Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364426150	rs_1473182306	3 SubmittersRCV001070589 RCV001844851 RCV003469264
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter)	SNV Germline	Chr6:51885905	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364423520	rs_1436814142	2 SubmittersRCV001060122
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)	SNV Germline	Chr6:51903669	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA450415337	rs_373795139	3 SubmittersRCV001067958 RCV002482118
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter)	SNV Germline	Chr6:51909397	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA364435089	rs_1782629977	1 SubmittersRCV001037607
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)	SNV Germline	Chr6:51934185	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA364417720	rs_1413693039	5 SubmittersRCV001052236 RCV003473648 RCV003396673
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)	SNV Germline	Chr6:51959948	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3852418	rs_774290802	7 SubmittersRCV001069479 RCV002497474 RCV003151279
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)	SNV Germline	Chr6:51960011	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364421795	rs_1313206550	2 SubmittersRCV001036123 RCV002481854

NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)

SNV
Germline

Chr6:52083201

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Colorectal cancer, protection against
Condition: not provided
Polycystic kidney disease
Oligohydramnios
Periportal fibrosis
Polycystic kidney disease
Autosomal dominant polycystic liver disease
Polycystic kidney disease 4
PKHD1-related disorder
Inborn genetic diseases
See cases
Renal cyst

Criteria Provided
Multiple Submitters
No Conflicts

CA129366

rs_137852944

48 SubmittersRCV000004324 RCV000023566 RCV000082517 RCV000414898 RCV000626993 RCV000845138 RCV001535891 RCV003415647 RCV004018552 RCV004584312 RCV005624669

NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)

SNV
Germline

Chr6:52024819

Pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA253009

rs_28937907

1 SubmittersRCV000004325

NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)

SNV
Germline

Chr6:52024589

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234572

rs_137852946

12 SubmittersRCV000004327 RCV000153715 RCV001849254 RCV004584313 RCV004748495

NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)

SNV
Germline

Chr6:51847871

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253011

rs_137852947

9 SubmittersRCV000004328 RCV003137490 RCV004589495 RCV004748496

NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)

SNV
Germline

Chr6:51659468

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253013

rs_137852948

7 SubmittersRCV000004329 RCV000623522 RCV003460425 RCV003415648

NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)

SNV
Germline

Chr6:52058349

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253014

rs_137852949

13 SubmittersRCV000004330 RCV000723837 RCV000845135 RCV002496252

NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)

SNV
Germline

Chr6:51659714

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253016

rs_137852950

5 SubmittersRCV000004331 RCV000788517 RCV003460426

NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)

SNV
Germline

Chr6:51744510

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224050

rs_398124475

6 SubmittersRCV000179585 RCV000790800 RCV004566956

NM_138694.4(PKHD1):c.1964+17G>T

SNV
Germline

Chr6:52054021

Conflicting classifications of pathogenicity

not specified
Condition: not provided
PKHD1-related disorder
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA149495

rs_201349527

5 SubmittersRCV000082532 RCV000588326 RCV003891579 RCV001512862

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_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)

SNV
Germline

Chr6:52046144

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224059

rs_398124480

5 SubmittersRCV000176504 RCV002490727 RCV002514445

NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)

SNV
Germline

Chr6:52042908

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224064

rs_138989655

7 SubmittersRCV000082544 RCV000306360 RCV001449949

NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys)

SNV
Germline

Chr6:52033153

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA224066

rs_200986136

6 SubmittersRCV000488108 RCV001488784 RCV002513851 RCV003133132 RCV004748568

NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)

SNV
Germline

Chr6:52028179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224068

rs_141574387

9 SubmittersRCV000082546 RCV000860578 RCV001588907 RCV005357526

NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)

SNV
Germline

Chr6:52025506

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA224075

rs_138242579

8 SubmittersRCV000082552 RCV001158630 RCV001578915 RCV002513852 RCV003894941

NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)

SNV
Germline

Chr6:52025467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA149510

rs_116809571

11 SubmittersRCV000082553 RCV000229420 RCV000224846 RCV005430487

NM_138694.4(PKHD1):c.528-18A>T

SNV
Germline

Chr6:52072207

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA224081

rs_200804428

2 SubmittersRCV000082559 RCV001485042

NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)

SNV
Germline

Chr6:52010329

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224082

rs_149553146

8 SubmittersRCV000082562 RCV000671325 RCV003945030 RCV005394351

NM_138694.4(PKHD1):c.633G>A (p.Gly211=)

SNV
Germline

Chr6:52071040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224086

rs_144025892

7 SubmittersRCV000082566 RCV000327475 RCV001449950

NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)

SNV
Germline

Chr6:51883163

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224091

rs_398124492

5 SubmittersRCV000082569 RCV001004196 RCV002272061

NM_138694.4(PKHD1):c.7912-5T>G

SNV
Germline

Chr6:51847975

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224095

rs_371510537

11 SubmittersRCV000206771 RCV000487822 RCV001731369 RCV003974991

NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)

SNV
Germline

Chr6:51791331

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224098

rs_147222255

18 SubmittersRCV000082581 RCV000473573 RCV000659055 RCV001507100 RCV001844807 RCV003935071 RCV005430488

NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)

SNV
Germline

Chr6:51791269

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224100

rs_398124495

8 SubmittersRCV000179135 RCV000790666 RCV003407467 RCV005430121

NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)

SNV
Germline

Chr6:51791268

Likely pathogenic

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA224101

rs_398124496

2 SubmittersRCV000179136 RCV001854440

NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)

SNV
Germline

Chr6:51791251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224103

rs_398124497

7 SubmittersRCV000082584 RCV000531951 RCV003398682 RCV002470760

NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)

SNV
Germline

Chr6:52083223

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224105

rs_398124498

7 SubmittersRCV000177400 RCV001035923 RCV003129775 RCV003398683

NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)

SNV
Germline

Chr6:51753327

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224108

rs_398124500

7 SubmittersRCV000169555 RCV000790758 RCV003474684

NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)

SNV
Germline

Chr6:51748401

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224110

rs_139306706

11 SubmittersRCV000253968 RCV000860694 RCV001449653 RCV001705803 RCV003891580

NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)

SNV
Germline

Chr6:52062655

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224114

rs_398124503

10 SubmittersRCV000174804 RCV000790671 RCV001580453 RCV004748570

NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)

SNV
Germline

Chr6:51746853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234561

rs_148932323

14 SubmittersRCV000153703 RCV000169100 RCV000489179 RCV001292034 RCV001449953 RCV001844809 RCV003907452

NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)

SNV
Germline

Chr6:52035671

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA234574

rs_727504088

4 SubmittersRCV000153719 RCV000765889 RCV002516089 RCV005042297

NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)

SNV
Germline

Chr6:52053238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234582

rs_727504092

4 SubmittersRCV000153723 RCV001379301 RCV005042298

NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)

SNV
Germline

Chr6:51747897

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234565

rs_146649803

9 SubmittersRCV000153706 RCV000200664 RCV000780600 RCV003416003 RCV003474810

NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter)

SNV
Germline

Chr6:51909466

Pathogenic

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA234569

rs_368263958

2 SubmittersRCV000178448 RCV001384543

NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)

SNV
Germline

Chr6:52050256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234578

rs_727504090

5 SubmittersRCV000153721 RCV000765890 RCV001331698

NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)

SNV
Germline

Chr6:51747828

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234563

rs_146519878

9 SubmittersRCV000153705 RCV000196023 RCV001572539 RCV001844810 RCV001292125 RCV003937433

NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)

SNV
Germline

Chr6:52043721

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA234576

rs_727504089

10 SubmittersRCV000176696 RCV001781495 RCV000790818 RCV003917507

NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)

SNV
Germline

Chr6:52054077

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA234584

rs_138968608

7 SubmittersRCV000153724 RCV001079254 RCV003965145 RCV002516090 RCV003150954

NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)

SNV
Germline

Chr6:52079920

Pathogenic

Condition: not provided
Autosomal recessive polycystic kidney disease
Abnormal intrahepatic bile duct morphology
See cases
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA234592

rs_727504096

10 SubmittersRCV000179011 RCV000796722 RCV000626995 RCV004584358 RCV003474811

NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)

SNV
Germline

Chr6:51748201

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA180301

rs_45503297

15 SubmittersRCV000153707 RCV000169053 RCV001706025 RCV001292335 RCV001449939

NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)

SNV
Germline

Chr6:52028309

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA180312

rs_41273726

16 SubmittersRCV000153718 RCV000168029 RCV000224414 RCV001291851 RCV001449932 RCV001507102

NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)

SNV
Germline

Chr6:51659200

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder
Biliary tract abnormality

Criteria Provided
Conflicting Classifications

CA234559

rs_78518523

13 SubmittersRCV000153701 RCV000723889 RCV001164890 RCV001810428 RCV003945211 RCV005621889

NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)

SNV
Germline

Chr6:51906246

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA180308

rs_140065359

8 SubmittersRCV000153712 RCV000336710 RCV001292179 RCV001555451

NM_138694.4(PKHD1):c.8303-1G>A

SNV
Germline

Chr6:51791374

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA334735

rs_786204241

1 SubmittersRCV000168405

NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)

SNV
Germline

Chr6:52024940

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Abnormal intrahepatic bile duct morphology
Condition: not provided
Polycystic kidney disease 4
Polycystic kidney disease
PKHD1-related disorder
Caroli disease
Autosomal dominant polycystic liver disease
Renal cyst

Criteria Provided
Multiple Submitters
No Conflicts

CA334736

rs_200391019

32 SubmittersRCV000168407 RCV000626996 RCV000479548 RCV001331702 RCV001292108 RCV003398859 RCV001507098 RCV001844812 RCV005625351

NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)

SNV
Germline

Chr6:51632706

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA273916

rs_746471701

4 SubmittersRCV000169068 RCV003462264

NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)

SNV
Germline

Chr6:51659682

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274092

rs_148617572

12 SubmittersRCV000169255 RCV000726420 RCV001331692 RCV003937523

NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)

SNV
Germline

Chr6:51748297

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274366

rs_786204688

9 SubmittersRCV000169496 RCV000724686 RCV002272153 RCV004748616

NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)

SNV
Germline

Chr6:51775841

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA203171

rs_113562492

10 SubmittersRCV000169052 RCV000179159 RCV001527869 RCV001292233

NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)

SNV
Germline

Chr6:51847966

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease
Condition: not provided
Abnormality of the genitourinary system
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA274412

rs_181208607

12 SubmittersRCV000169564 RCV000415427 RCV001091108 RCV001814084 RCV001374661

NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)

SNV
Germline

Chr6:51903601

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273991

rs_200179145

19 SubmittersRCV000169149 RCV000494184 RCV001291886 RCV001542752 RCV004748614

NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)

SNV
Germline

Chr6:52028349

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274186

rs_142107837

7 SubmittersRCV000169334 RCV002492692 RCV001843489

NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)

SNV
Germline

Chr6:52043636

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Renal cyst
Ventricular hypertrophy
Polycystic kidney disease
Polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA274389

rs_786204707

5 SubmittersRCV000169522 RCV000415273 RCV000626994 RCV005603604

NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)

SNV
Germline

Chr6:52050157

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274068

rs_745770404

11 SubmittersRCV000169230 RCV001283774 RCV003927564 RCV005623309

NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)

SNV
Germline

Chr6:52054122

Pathogenic

Autosomal recessive polycystic kidney disease
Autosomal dominant polycystic liver disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA274375

rs_786204696

5 SubmittersRCV000169507 RCV001844813 RCV003398869

NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)

SNV
Germline

Chr6:52055593

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274378

rs_749293235

8 SubmittersRCV000169512 RCV003152689 RCV004748617

NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)

SNV
Germline

Chr6:52058355

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274284

rs_754392766

8 SubmittersRCV000169415 RCV000725681 RCV002498843

NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)

SNV
Germline

Chr6:52058377

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA274453

rs_786204749

5 SubmittersRCV000169599 RCV003462270

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_138694.4(PKHD1):c.1849T>C (p.Tyr617His)

SNV
Germline

Chr6:52054153

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241995

rs_141177165

5 SubmittersRCV000176124 RCV001082977 RCV004748632

NM_138694.4(PKHD1):c.2279+13T>G

SNV
Germline

Chr6:52050144

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA242234

rs_188914598

9 SubmittersRCV000724186 RCV001160100 RCV000249026

NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)

SNV
Germline

Chr6:52050269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242235

rs_794727366

9 SubmittersRCV000176334 RCV002272158 RCV003317127 RCV003502520

NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=)

SNV
Germline

Chr6:52042872

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA242803

rs_754425809

2 SubmittersRCV000176776 RCV002056955

NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)

SNV
Germline

Chr6:52043102

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275144

rs_773136605

11 SubmittersRCV000176777 RCV000724042 RCV001198369 RCV001844815

NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)

SNV
Germline

Chr6:52035697

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA242990

rs_794727466

6 SubmittersRCV000176895 RCV001276778 RCV004748633 RCV004689656

NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)

SNV
Germline

Chr6:52033152

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA243064

rs_201123815

5 SubmittersRCV000176952 RCV004020100 RCV002517706 RCV002485152

NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)

SNV
Germline

Chr6:52024750

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA244193

rs_794727566

7 SubmittersRCV000177676 RCV000394147 RCV001781535

NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)

SNV
Germline

Chr6:51960010

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA244856

rs_150838488

11 SubmittersRCV000274741 RCV000724484 RCV001844070 RCV005042382 RCV003947510

NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)

SNV
Germline

Chr6:51912453

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202674

rs_147487242

10 SubmittersRCV000177959 RCV000857781 RCV000354123 RCV005361075

NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)

SNV
Germline

Chr6:51912482

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA244961

rs_148817026

3 SubmittersRCV000177960 RCV001086667

NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)

SNV
Germline

Chr6:52082515

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245465

rs_141790557

9 SubmittersRCV000406304 RCV000178381 RCV003927661 RCV001706142 RCV005365104

NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)

SNV
Germline

Chr6:51903997

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA275271

rs_142526715

17 SubmittersRCV000224543 RCV000765886 RCV001844816 RCV002282003 RCV003917663 RCV005625381 RCV005361076

NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)

SNV
Germline

Chr6:51885888

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275278

rs_794727680

3 SubmittersRCV000178588 RCV003462287 RCV003611503

NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)

SNV
Germline

Chr6:51883136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA245788

rs_147851214

8 SubmittersRCV000178612 RCV000291419 RCV003937615

NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)

SNV
Germline

Chr6:51867921

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified
PKHD1-related disorder
Inborn genetic diseases
Polycystic kidney disease 4
Autosomal dominant polycystic liver disease

Criteria Provided
Conflicting Classifications

CA245849

rs_150046042

13 SubmittersRCV000178676 RCV000806672 RCV001358740 RCV003977466 RCV003352795 RCV005396547 RCV001844817

NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)

SNV
Germline

Chr6:52079965

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
Polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA203131

rs_143979330

6 SubmittersRCV000179009 RCV000288301 RCV001292146 RCV003955075

NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)

SNV
Germline

Chr6:51791265

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA246375

rs_794727759

7 SubmittersRCV000336528 RCV003474935 RCV000790749

NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)

SNV
Germline

Chr6:51748253

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA246494

rs_183674012

6 SubmittersRCV000179215 RCV001083480

NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)

SNV
Germline

Chr6:51659907

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275361

rs_781368899

16 SubmittersRCV000627228 RCV000844922 RCV000845132 RCV002267610

NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys)

SNV
Germline

Chr6:51659382

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246897

rs_148300854

5 SubmittersRCV000179596 RCV001407262 RCV003129797

NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)

SNV
Germline

Chr6:51658996

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA246899

rs_146224907

4 SubmittersRCV000179597 RCV001086146

NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)

SNV
Germline

Chr6:51619279

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246986

rs_143616240

12 SubmittersRCV000179675 RCV000674658 RCV000589131 RCV003319328 RCV003937626

NM_138694.4(PKHD1):c.449-6A>T

SNV
Germline

Chr6:52073547

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA247375

rs_200204976

3 SubmittersRCV000180000 RCV001277915

NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)

SNV
Germline

Chr6:52071021

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248265

rs_149522482

8 SubmittersRCV000180702 RCV000633437 RCV001810434 RCV001844818 RCV003917687

NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)

SNV
Germline

Chr6:51619196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA338262

rs_199900211

8 SubmittersRCV000198885 RCV000730606 RCV003967536 RCV003129804

NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)

SNV
Germline

Chr6:51648091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337383

rs_41273722

10 SubmittersRCV000251856 RCV001545553 RCV001162836 RCV003891772 RCV005361162

NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)

SNV
Germline

Chr6:51772763

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337220

rs_150925674

14 SubmittersRCV000197457 RCV000254142 RCV000590788 RCV005361124

NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)

SNV
Germline

Chr6:52043720

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA337273

rs_201753421

4 SubmittersRCV000197522 RCV003133173

NM_138694.4(PKHD1):c.6462T>G (p.Val2154=)

SNV
Germline

Chr6:51911827

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10581262

rs_878852998

2 SubmittersRCV000224422 RCV002516220

NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)

SNV
Germline

Chr6:51748354

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Autosomal dominant polycystic liver disease

Criteria Provided
Conflicting Classifications

CA3851421

rs_201066635

5 SubmittersRCV000224584 RCV000707695 RCV001844820

NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)

SNV
Germline

Chr6:52043103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853086

rs_139815340

11 SubmittersRCV000225884 RCV000250293 RCV001449647 RCV001706278

NM_138694.4(PKHD1):c.8173+12C>T

SNV
Germline

Chr6:51836392

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851719

rs_368093611

4 SubmittersRCV000246958 RCV000357751 RCV005430287

NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)

SNV
Germline

Chr6:51847860

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851768

rs_755688912

3 SubmittersRCV000250865 RCV000726606 RCV001083857

NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)

SNV
Germline

Chr6:51906249

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852185

rs_34796823

5 SubmittersRCV000251887 RCV000725284 RCV001089375

NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)

SNV
Germline

Chr6:52024685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852608

rs_45517932

11 SubmittersRCV000253664 RCV000558453 RCV000987715 RCV005361496

NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)

SNV
Germline

Chr6:52026027

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3852838

rs_138388301

10 SubmittersRCV000252548 RCV000335297 RCV000726130

NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)

SNV
Germline

Chr6:52050193

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
Condition: not provided
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853298

rs_141622697

6 SubmittersRCV000254512 RCV001086206 RCV000725680 RCV003891982

NM_138694.4(PKHD1):c.130+9G>A

SNV
Germline

Chr6:52083169

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3854034

rs_367608402

4 SubmittersRCV000250803 RCV000727487 RCV001088979

NM_138694.4(PKHD1):c.1472A>C (p.His491Pro)

SNV
Germline

Chr6:52058363

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA10588926

rs_886039888

1 SubmittersRCV000256369

NM_138694.4(PKHD1):c.129T>C (p.Asp43=)

SNV
Germline

Chr6:52083179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3854036

rs_201195801

5 SubmittersRCV000398350 RCV005355586 RCV001242776

NM_138694.4(PKHD1):c.764A>G (p.Tyr255Cys)

SNV
Germline

Chr6:52069471

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10603998

rs_886042259

2 SubmittersRCV000396836 RCV001855094

NM_138694.4(PKHD1):c.3009T>C (p.Gly1003=)

SNV
Germline

Chr6:52042947

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10604158

rs_886042383

2 SubmittersRCV000302159 RCV002059106

NM_138694.4(PKHD1):c.1796C>T (p.Pro599Leu)

SNV
Germline

Chr6:52055627

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853444

rs_199941159

3 SubmittersRCV000340678 RCV001453273

NM_138694.4(PKHD1):c.3373A>C (p.Thr1125Pro)

SNV
Germline

Chr6:52028343

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852958

rs_144365187

5 SubmittersRCV000311356 RCV002059116 RCV004748688 RCV005031852

NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=)

SNV
Germline

Chr6:52025772

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852791

rs_147584295

3 SubmittersRCV000327301 RCV001078983

NM_138694.4(PKHD1):c.4540G>C (p.Asp1514His)

SNV
Germline

Chr6:52025270

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852704

rs_147098776

4 SubmittersRCV000292605 RCV001454131 RCV005031854 RCV004725139

NM_138694.4(PKHD1):c.9186T>C (p.Asn3062=)

SNV
Germline

Chr6:51748430

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851435

rs_755873874

2 SubmittersRCV000359263 RCV002518895

NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)

SNV
Germline

Chr6:52050171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853292

rs_375603741

6 SubmittersRCV000343380 RCV001083769 RCV001449587 RCV003977763

NM_138694.4(PKHD1):c.2244G>A (p.Ala748=)

SNV
Germline

Chr6:52050192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10605002

rs_886043022

3 SubmittersRCV000339635 RCV002487223 RCV002518960

NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)

SNV
Germline

Chr6:51748138

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851385

rs_147351244

8 SubmittersRCV000317863 RCV000392284 RCV003441833 RCV003920094 RCV005355593

NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)

SNV
Germline

Chr6:51906336

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852197

rs_148497044

4 SubmittersRCV000316786 RCV001081137 RCV003920096

NM_138694.4(PKHD1):c.707+1G>A

SNV
Germline

Chr6:52070405

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853807

rs_748365248

5 SubmittersRCV000300283 RCV000725728 RCV001810443

NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)

SNV
Germline

Chr6:52024676

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852602

rs_141103838

13 SubmittersRCV000373143 RCV000414198 RCV001580479 RCV003391047 RCV005238846

NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)

SNV
Germline

Chr6:52082399

Conflicting classifications of pathogenicity

Condition: not provided
Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853985

rs_370277502

12 SubmittersRCV000337196 RCV001535928 RCV001004221 RCV005452971 RCV003417901

NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)

SNV
Germline

Chr6:51909466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852238

rs_368263958

4 SubmittersRCV000350995 RCV000819334 RCV002487239

NM_138694.4(PKHD1):c.8814G>A (p.Thr2938=)

SNV
Germline

Chr6:51753337

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851512

rs_755169390

2 SubmittersRCV000331782 RCV001473903

NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)

SNV
Germline

Chr6:52033091

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3852983

rs_148335285

7 SubmittersRCV000337623 RCV000394496 RCV003957472 RCV001706416

NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)

SNV
Germline

Chr6:52025553

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852752

rs_577832997

4 SubmittersRCV000390756 RCV000725949 RCV001276777

NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)

SNV
Germline

Chr6:51638955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850859

rs_149427926

6 SubmittersRCV000273670 RCV001079830 RCV005396892 RCV005431596

NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)

SNV
Germline

Chr6:52025518

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852742

rs_753307105

9 SubmittersRCV000328052 RCV000675159 RCV003391051 RCV003475914

NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=)

SNV
Germline

Chr6:51748619

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851462

rs_777095602

3 SubmittersRCV000294978 RCV002055071 RCV004748694

NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)

SNV
Germline

Chr6:51659119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850972

rs_142855690

8 SubmittersRCV000356617 RCV001449929 RCV001086169 RCV001193196

NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)

SNV
Germline

Chr6:51619470

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850679

rs_35403035

4 SubmittersRCV000349865 RCV001272766 RCV003897628

NM_138694.4(PKHD1):c.8440+10G>C

SNV
Germline

Chr6:51791226

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851635

rs_376658460

3 SubmittersRCV000321489 RCV001087959

NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)

SNV
Germline

Chr6:52025801

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852799

rs_373255125

8 SubmittersRCV000264443 RCV000374359 RCV002470838 RCV003949917 RCV005462935

NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)

SNV
Germline

Chr6:51867955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851883

rs_771563591

4 SubmittersRCV000316134 RCV001086866 RCV003897635

NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)

SNV
Germline

Chr6:52053242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853363

rs_199635188

4 SubmittersRCV000320537 RCV000393707 RCV004748699

NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)

SNV
Germline

Chr6:51856060

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive polycystic kidney disease
Autosomal dominant polycystic liver disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3851843

rs_200204857

8 SubmittersRCV000528475 RCV000336713 RCV001084453 RCV001844822 RCV003940059

NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)

SNV
Germline

Chr6:52050242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853307

rs_201432731

9 SubmittersRCV000405708 RCV001844823 RCV000549371 RCV003910015 RCV005430289

NM_138694.4(PKHD1):c.2607C>T (p.Asn869=)

SNV
Germline

Chr6:52045074

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853160

rs_147051973

2 SubmittersRCV000393196 RCV001444750

NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)

SNV
Germline

Chr6:51619506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850687

rs_149111536

7 SubmittersRCV000280002 RCV001082489 RCV003940068

NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)

SNV
Germline

Chr6:52017532

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852504

rs_137925439

6 SubmittersRCV000322539 RCV000381594

NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln)

SNV
Germline

Chr6:52025641

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
Polycystic kidney disease 4
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852766

rs_139063552

7 SubmittersRCV000340674 RCV000402008 RCV002502151 RCV004021291 RCV004748701

NM_138694.4(PKHD1):c.281+3A>G

SNV
Germline

Chr6:52082389

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3853983

rs_79803080

7 SubmittersRCV000332244 RCV000542647 RCV003910033 RCV001753747

NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)

SNV
Germline

Chr6:52025363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852721

rs_146745096

7 SubmittersRCV000350289 RCV000765888 RCV003409420 RCV005033849

NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=)

SNV
Germline

Chr6:52024611

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852593

rs_148790132

3 SubmittersRCV000374476 RCV001081485

NM_138694.4(PKHD1):c.2280-9G>A

SNV
Germline

Chr6:52048628

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853262

rs_376576760

2 SubmittersRCV000282414 RCV001470522

NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)

SNV
Germline

Chr6:52043131

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853094

rs_142205860

7 SubmittersRCV000266382 RCV000304554 RCV003417914 RCV005033850

NM_138694.4(PKHD1):c.2637G>A (p.Thr879=)

SNV
Germline

Chr6:52045044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853155

rs_147915980

3 SubmittersRCV000396651 RCV001424165 RCV003920164

NM_138694.4(PKHD1):c.11818A>T (p.Asn3940Tyr)

SNV
Germline

Chr6:51619488

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3850684

rs_757479262

2 SubmittersRCV000381345 RCV002059281

NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)

SNV
Germline

Chr6:51868063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851902

rs_200679577

7 SubmittersRCV000331367 RCV000372441 RCV005396904 RCV003949957

NM_138694.4(PKHD1):c.642G>A (p.Gln214=)

SNV
Germline

Chr6:52071031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853837

rs_762584715

4 SubmittersRCV000310909 RCV001458615 RCV003897657 RCV005365229

NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=)

SNV
Germline

Chr6:51619462

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3850676

rs_199564783

3 SubmittersRCV000367616 RCV001086135

NM_138694.4(PKHD1):c.270A>G (p.Thr90=)

SNV
Germline

Chr6:52082403

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10606957

rs_886044598

2 SubmittersRCV000373343 RCV001437607

NM_138694.4(PKHD1):c.2093G>A (p.Gly698Asp)

SNV
Germline

Chr6:52053123

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853345

rs_199858063

5 SubmittersRCV000345048 RCV001493846 RCV005033855

NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)

SNV
Germline

Chr6:52064996

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853697

rs_140781915

5 SubmittersRCV000328110 RCV001034258 RCV004748703

NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)

SNV
Germline

Chr6:52050167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853291

rs_777183511

9 SubmittersRCV000288236 RCV000317551 RCV001844826 RCV003469249 RCV004748704

NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)

SNV
Germline

Chr6:52056715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853487

rs_142896856

10 SubmittersRCV000361497 RCV000377159 RCV004021315 RCV001336939 RCV001844827 RCV004748706

NM_138694.4(PKHD1):c.2091G>A (p.Thr697=)

SNV
Germline

Chr6:52053125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853346

rs_147826962

3 SubmittersRCV000292867 RCV001495667 RCV003897661

NM_138694.4(PKHD1):c.723G>A (p.Lys241=)

SNV
Germline

Chr6:52069512

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10607079

rs_886044700

2 SubmittersRCV000335168 RCV001859736

NM_138694.4(PKHD1):c.11507-5C>T

SNV
Germline

Chr6:51632728

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10622427

rs_886061609

2 SubmittersRCV000336640

NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)

SNV
Germline

Chr6:51747911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851350

rs_759568939

8 SubmittersRCV000265753 RCV004591130 RCV001526423

NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)

SNV
Germline

Chr6:51748214

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851394

rs_143737660

8 SubmittersRCV000591117 RCV000372328 RCV000781720 RCV001449936

NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)

SNV
Germline

Chr6:51747902

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3851349

rs_754654892

4 SubmittersRCV000360404 RCV001551259

NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)

SNV
Germline

Chr6:51753281

Pathogenic

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Condition: not provided
Polycystic kidney disease
Polycystic kidney disease 4
Biliary tract abnormality

Criteria Provided
Multiple Submitters
No Conflicts

CA3851503

rs_760222236

12 SubmittersRCV000390646 RCV003409556 RCV000521323 RCV001292483 RCV002502379 RCV005621938

NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)

SNV
Germline

Chr6:51847814

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10624394

rs_886061616

9 SubmittersRCV000299549 RCV000522783 RCV002504175 RCV003912528

NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)

SNV
Germline

Chr6:52046133

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3853201

rs_9474136

5 SubmittersRCV000375174 RCV001550907 RCV002509372

NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)

SNV
Germline

Chr6:52053137

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853350

rs_746441159

4 SubmittersRCV000595453 RCV000388330

NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)

SNV
Germline

Chr6:52053210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853359

rs_200497761

8 SubmittersRCV000348938 RCV000596106 RCV001336940 RCV001824136 RCV003418076

NM_138694.4(PKHD1):c.1693+10G>A

SNV
Germline

Chr6:52056688

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10624397

rs_886061621

2 SubmittersRCV000304404

NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)

SNV
Germline

Chr6:52082398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853984

rs_145886657

9 SubmittersRCV000345554 RCV000598489 RCV003418077

NM_138694.4(PKHD1):c.192C>T (p.Asn64=)

SNV
Germline

Chr6:52082481

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3854001

rs_148089143

4 SubmittersRCV000339591 RCV003897802

NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)

SNV
Germline

Chr6:51748123

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851383

rs_199621305

7 SubmittersRCV000281542 RCV000592543 RCV003902391

NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=)

SNV
Germline

Chr6:51830982

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3851702

rs_759658629

3 SubmittersRCV000398092 RCV000734061

NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=)

SNV
Germline

Chr6:51883222

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3851995

rs_199559837

3 SubmittersRCV000382346 RCV000598017

NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr)

SNV
Germline

Chr6:51911814

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852254

rs_750822014

4 SubmittersRCV000404946 RCV005033898 RCV005384705

NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)

SNV
Germline

Chr6:52024698

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3852614

rs_202010726

6 SubmittersRCV000380232 RCV000733100 RCV003932475 RCV001507321

NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)

SNV
Germline

Chr6:52043665

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
not specified
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853120

rs_200511208

6 SubmittersRCV000323980 RCV000591055 RCV003114511 RCV003932476

NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys)

SNV
Germline

Chr6:52054042

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3853389

rs_200918134

3 SubmittersRCV000290453 RCV002524496 RCV004772904

NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)

SNV
Germline

Chr6:52054154

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853410

rs_776570716

3 SubmittersRCV000390760

NM_138694.4(PKHD1):c.1233+1G>A

SNV
Germline

Chr6:52059927

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10627219

rs_886061623

4 SubmittersRCV000315696 RCV003225063

NM_138694.4(PKHD1):c.904G>A (p.Val302Met)

SNV
Germline

Chr6:52065027

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3853704

rs_779418460

4 SubmittersRCV000275791 RCV004649142

NM_138694.4(PKHD1):c.150T>G (p.Leu50=)

SNV
Germline

Chr6:52082523

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3854012

rs_529214120

4 SubmittersRCV000299889 RCV003970044

NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=)

SNV
Germline

Chr6:51867961

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3851884

rs_779757789

3 SubmittersRCV000389455 RCV004748745

NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)

SNV
Germline

Chr6:51959949

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852419

rs_376709130

6 SubmittersRCV000367037 RCV000596174 RCV005365259 RCV003922578

NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=)

SNV
Germline

Chr6:52022880

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA10627252

rs_886061618

2 SubmittersRCV000270611

NM_138694.4(PKHD1):c.3629-15G>A

SNV
Germline

Chr6:52026196

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852874

rs_375870003

2 SubmittersRCV000352601

NM_138694.4(PKHD1):c.708-4G>A

SNV
Germline

Chr6:52069531

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853797

rs_748018742

2 SubmittersRCV000293518

NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala)

SNV
Germline

Chr6:51748665

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA10654916

rs_1057516201

1 SubmittersRCV000408884

NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)

SNV
Germline

Chr6:51648115

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16041022

rs_199839578

10 SubmittersRCV000411765 RCV002504202 RCV005398497

NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)

SNV
Germline

Chr6:51659417

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA16041025

rs_1057516345

2 SubmittersRCV000410089 RCV005430293

NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)

SNV
Germline

Chr6:51746818

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851295

rs_757099749

4 SubmittersRCV000410535 RCV002505992

NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)

SNV
Germline

Chr6:51747898

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041031

rs_1057516577

7 SubmittersRCV000411085 RCV000727620 RCV003463795

NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)

SNV
Germline

Chr6:51747933

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16041032

rs_1057516445

3 SubmittersRCV000411250 RCV005430299

NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)

SNV
Germline

Chr6:51867900

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA16041041

rs_1057516751

2 SubmittersRCV000412217 RCV005430319

NM_138694.4(PKHD1):c.7350+1G>T

SNV
Germline

Chr6:51883092

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16041042

rs_1057516588

4 SubmittersRCV000411686 RCV002488838

NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)

SNV
Germline

Chr6:51903683

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA16041045

rs_1057516441

2 SubmittersRCV000409558 RCV005430298

NM_138694.4(PKHD1):c.5752-2A>G

SNV
Germline

Chr6:51960028

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16041049

rs_1057516407

5 SubmittersRCV000409067 RCV001332899

NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)

SNV
Germline

Chr6:52017497

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3852499

rs_777999875

7 SubmittersRCV000411938 RCV002488836

NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)

SNV
Germline

Chr6:52017525

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852502

rs_774759689

7 SubmittersRCV000410933 RCV001844829 RCV003463799 RCV005411419

NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)

SNV
Germline

Chr6:52024928

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3852648

rs_267601070

6 SubmittersRCV000410465 RCV003463803

NM_138694.4(PKHD1):c.3229-2A>C

SNV
Germline

Chr6:52033167

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16041062

rs_1057516872

4 SubmittersRCV000410242 RCV002502426

NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)

SNV
Germline

Chr6:52050172

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041067

rs_1057517158

6 SubmittersRCV000408967 RCV000598488 RCV004748747 RCV003463802

NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)

SNV
Germline

Chr6:52069487

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA16041071

rs_1057516768

2 SubmittersRCV000411384 RCV005430320

NM_138694.4(PKHD1):c.603-2A>G

SNV
Germline

Chr6:52071072

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853845

rs_757521428

6 SubmittersRCV000411920 RCV003475940

NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)

SNV
Germline

Chr6:51748040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851368

rs_201670044

4 SubmittersRCV000415965 RCV003950325 RCV001272768

NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)

SNV
Germline

Chr6:52058493

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853582

rs_149781976

14 SubmittersRCV000415990 RCV000669988 RCV001844830 RCV003922678 RCV005430532

NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)

SNV
Germline

Chr6:51748086

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Condition: not provided
PKHD1-related disorder
Biliary tract abnormality

Criteria Provided
Conflicting Classifications

CA3851379

rs_200511261

11 SubmittersRCV000502876 RCV001336942 RCV000444254 RCV003418109 RCV005625589

NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)

SNV
Germline

Chr6:51934319

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852378

rs_180675584

9 SubmittersRCV000440845 RCV001004198 RCV001775118 RCV004748752

NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)

SNV
Germline

Chr6:52046182

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Biliary tract abnormality

Criteria Provided
Conflicting Classifications

CA3853210

rs_199531851

9 SubmittersRCV000432815 RCV001004207 RCV003152602 RCV005625590

NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys)

SNV
Germline

Chr6:51746721

Likely pathogenic

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16605053

rs_1057524563

2 SubmittersRCV000444258 RCV001828451

NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)

SNV
Germline

Chr6:52042976

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853068

rs_757854282

3 SubmittersRCV000449535 RCV005044652

NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)

SNV
Germline

Chr6:51619200

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
not specified
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3850617

rs_201210830

7 SubmittersRCV000457190 RCV000592520 RCV001193199 RCV003243135 RCV005044665

NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)

SNV
Germline

Chr6:51883179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851986

rs_201881567

15 SubmittersRCV000457585 RCV000729736 RCV001844833 RCV003334387 RCV003942478

NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)

SNV
Germline

Chr6:51903686

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3852124

rs_751084512

3 SubmittersRCV000474720 RCV002481410

NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)

SNV
Germline

Chr6:52071009

Pathogenic/Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease
Condition: not provided
PKHD1-related disorder
See cases
Biliary tract abnormality

Criteria Provided
Multiple Submitters
No Conflicts

CA3853831

rs_369925690

25 SubmittersRCV001262841 RCV000467466 RCV000681918 RCV003401465 RCV003985354 RCV005625611

NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)

SNV
Germline

Chr6:51649171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850924

rs_557211301

5 SubmittersRCV000463053 RCV001357091 RCV003932735

NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)

SNV
Germline

Chr6:52026006

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852834

rs_201769990

5 SubmittersRCV000464682 RCV000730656 RCV003960062

NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)

SNV
Germline

Chr6:52050167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853290

rs_777183511

5 SubmittersRCV000472049 RCV002481409 RCV001844832 RCV005411438

NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn)

SNV
Germline

Chr6:51746842

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16612174

rs_1060501356

2 SubmittersRCV000476666 RCV005044666

NM_138694.4(PKHD1):c.8555-2A>C

SNV
Germline

Chr6:51772791

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138907851

rs_1020621286

7 SubmittersRCV000492982 RCV001004192 RCV001775124 RCV003419833

NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)

SNV
Germline

Chr6:51748320

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3851414

rs_757946548

5 SubmittersRCV000498382 RCV003464070 RCV001829415

NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)

SNV
Germline

Chr6:51959953

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364421541

rs_1210846081

6 SubmittersRCV000500109 RCV002506218 RCV001291854

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_138694.4(PKHD1):c.7351-1G>C

SNV
Germline

Chr6:51870640

Pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA364419866

rs_1554282540

1 SubmittersRCV000505653

NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)

SNV
Germline

Chr6:52071011

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

No Assertion Criteria Provided

CA364433270

rs_1554223332

2 SubmittersRCV000505612 RCV005430543

NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)

SNV
Germline

Chr6:51746794

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
Autosomal dominant polycystic liver disease
Polycystic kidney disease 4
Inborn genetic diseases
PKHD1-related disorder
Renal cyst

Criteria Provided
Conflicting Classifications

CA3851291

rs_45627337

12 SubmittersRCV000509311 RCV000594183 RCV001844835 RCV002470891 RCV002527385 RCV004748796 RCV005625653

NM_001377.3(DYNC2H1):c.10042+2T>G

SNV
Germline

Chr11:103245376

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Asphyxiating thoracic dystrophy 3
Autosomal recessive polycystic kidney disease
Jeune thoracic dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382246199

rs_1261505725

6 SubmittersRCV000516017 RCV001291173 RCV001328199 RCV001857881 RCV003159657

NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)

SNV
Germline

Chr16:2100560

Conflicting classifications of pathogenicity

Condition: not provided
Polycystic kidney disease, adult type
Polycystic kidney disease
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Conflicting Classifications

CA394356683

rs_1555449635

8 SubmittersRCV000516248 RCV001095636 RCV001292225 RCV005407672

NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)

SNV
Germline

Chr16:2108418

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Polycystic kidney disease, adult type
Polycystic kidney disease
PKD1-related disorder
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Conflicting Classifications

CA7831481

rs_139971481

10 SubmittersRCV000517469 RCV000658732 RCV000989454 RCV001292268 RCV004740300 RCV005407671

NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)

SNV
Germline

Chr6:52024575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852583

rs_187667255

4 SubmittersRCV000597437 RCV001082991 RCV003925601

NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)

SNV
Germline

Chr6:52025611

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852760

rs_191201723

8 SubmittersRCV000529518 RCV000733218 RCV003476228

NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)

SNV
Germline

Chr6:52043635

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364442529

rs_1344820986

8 SubmittersRCV000548550 RCV001535924 RCV003925600

NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter)

SNV
Germline

Chr6:51632618

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364420082

rs_1554167673

3 SubmittersRCV000546671 RCV004568753

NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser)

SNV
Germline

Chr6:51659498

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364433489

rs_1554183398

1 SubmittersRCV000557856

NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly)

SNV
Germline

Chr6:51934247

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364417853

rs_1554144359

1 SubmittersRCV000550974

NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)

SNV
Germline

Chr6:51748063

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3851373

rs_145651593

8 SubmittersRCV000592975 RCV000780599 RCV001087159 RCV003962477 RCV002527687

NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln)

SNV
Germline

Chr6:52042975

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA138961789

rs_753169961

5 SubmittersRCV000526795 RCV000733108 RCV004023792

NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)

SNV
Germline

Chr6:52062660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138918438

rs_778329699

5 SubmittersRCV000545902 RCV001755812 RCV002483376

NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)

SNV
Germline

Chr6:51659952

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided
PKHD1-related disorder
Polycystic kidney disease 4
Biliary tract abnormality

Criteria Provided
Multiple Submitters
No Conflicts

CA3851135

rs_201082169

13 SubmittersRCV000578239 RCV001249102 RCV003420014 RCV002470913 RCV005625689

NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)

SNV
Germline

Chr6:51830957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851697

rs_764880309

9 SubmittersRCV000588557 RCV000765885 RCV003465327

NM_138694.4(PKHD1):c.11507-11C>T

SNV
Germline

Chr6:51632734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850796

rs_201478327

5 SubmittersRCV000586413 RCV001162834 RCV001555004 RCV005357779

NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)

SNV
Germline

Chr6:51847870

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA138910869

rs_778592523

5 SubmittersRCV000588359 RCV001246327 RCV002506403 RCV004955675

NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)

SNV
Germline

Chr6:52053236

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA364444545

rs_1554214097

3 SubmittersRCV000590035 RCV001834859

NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)

SNV
Germline

Chr6:52025971

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852825

rs_374233100

4 SubmittersRCV001274854 RCV000587125 RCV002483572 RCV004024688

NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)

SNV
Germline

Chr6:51906241

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852183

rs_146102132

5 SubmittersRCV001479944 RCV000593640 RCV003160006 RCV003915687

NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)

SNV
Germline

Chr6:51659267

Conflicting classifications of pathogenicity

Condition: not provided
PKHD1-related disorder
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3851006

rs_149163661

9 SubmittersRCV000595376 RCV003925761 RCV000816584 RCV002532360 RCV003151109

NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)

SNV
Germline

Chr6:52017512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852501

rs_201105958

12 SubmittersRCV000592600 RCV000723529 RCV004748832 RCV003471950

NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)

SNV
Germline

Chr6:51659124

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850975

rs_114237522

5 SubmittersRCV001086538 RCV000592223 RCV003945382

NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)

SNV
Germline

Chr6:52054089

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
Inborn genetic diseases
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853396

rs_181546197

6 SubmittersRCV001163765 RCV000592067 RCV004024712 RCV003133389 RCV003905514

NM_138694.4(PKHD1):c.602+1G>A

SNV
Germline

Chr6:52072114

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364434554

rs_1554223950

4 SubmittersRCV000597077 RCV001378086 RCV003471952

NM_138694.4(PKHD1):c.2217G>A (p.Pro739=)

SNV
Germline

Chr6:52050219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853301

rs_373367366

4 SubmittersRCV000597237 RCV002491181 RCV002531000

NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)

SNV
Germline

Chr6:52066009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853741

rs_375145340

6 SubmittersRCV000592287 RCV001860162 RCV003465335 RCV003403388

NM_138694.4(PKHD1):c.9696T>C (p.Ala3232=)

SNV
Germline

Chr6:51747920

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA138895910

rs_368588369

2 SubmittersRCV000595260 RCV001413548

NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp)

SNV
Germline

Chr6:52026107

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3852860

rs_376121326

4 SubmittersRCV001453690 RCV000591315 RCV002532394 RCV005392151

NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)

SNV
Germline

Chr6:52071015

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853833

rs_199897497

7 SubmittersRCV000593464 RCV001163885 RCV005044880 RCV003935596

NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)

SNV
Germline

Chr6:51659772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851095

rs_562503637

6 SubmittersRCV000595378 RCV001034151 RCV003989565 RCV003409859

NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)

SNV
Germline

Chr6:52050268

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853311

rs_150597050

7 SubmittersRCV000591411 RCV000860742 RCV001449937 RCV003431134

NM_138694.4(PKHD1):c.624T>C (p.His208=)

SNV
Germline

Chr6:52071049

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853840

rs_767511678

4 SubmittersRCV000592399 RCV001088951 RCV003915703

NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)

SNV
Germline

Chr6:52050181

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853294

rs_200654041

6 SubmittersRCV000592931 RCV001163477 RCV005034163

NM_138694.4(PKHD1):c.6795T>C (p.His2265=)

SNV
Germline

Chr6:51906228

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852179

rs_186227053

2 SubmittersRCV000594096 RCV001089233

NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)

SNV
Germline

Chr6:52025972

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852826

rs_144042993

7 SubmittersRCV000595392 RCV000802278 RCV002531030 RCV004748835

NM_138694.4(PKHD1):c.1737G>A (p.Thr579=)

SNV
Germline

Chr6:52055686

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853458

rs_765871629

2 SubmittersRCV000594152 RCV001087669

NM_138694.4(PKHD1):c.5752-9G>A

SNV
Germline

Chr6:51960035

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852428

rs_184441390

3 SubmittersRCV000591074 RCV001089421

NM_138694.4(PKHD1):c.5586G>A (p.Ser1862=)

SNV
Germline

Chr6:52017424

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450417480

rs_1372900985

2 SubmittersRCV000592262 RCV003611521

NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)

SNV
Germline

Chr6:52079956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853963

rs_149841071

10 SubmittersRCV000595963 RCV001290597 RCV001292159 RCV001844839 RCV000671191 RCV005044887

NM_138694.4(PKHD1):c.2448C>T (p.Leu816=)

SNV
Germline

Chr6:52046148

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853203

rs_771790015

2 SubmittersRCV000596189 RCV001476854

NM_138694.4(PKHD1):c.881-1G>A

SNV
Germline

Chr6:52065051

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364429821

rs_1554220431

7 SubmittersRCV000594446 RCV000726993 RCV001580522

NM_138694.4(PKHD1):c.7887C>T (p.Asn2629=)

SNV
Germline

Chr6:51855917

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851808

rs_146083613

2 SubmittersRCV000593498 RCV001452817

NM_138694.4(PKHD1):c.778+10C>G

SNV
Germline

Chr6:52069447

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658796776

rs_1365502451

3 SubmittersRCV000596343 RCV001455456 RCV003900326

NM_138694.4(PKHD1):c.2217G>T (p.Pro739=)

SNV
Germline

Chr6:52050219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853302

rs_373367366

3 SubmittersRCV000596653 RCV001445253 RCV005034166

NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=)

SNV
Germline

Chr6:51830976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851701

rs_149310653

3 SubmittersRCV000594681 RCV001087255 RCV003915715

NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)

SNV
Germline

Chr6:51867879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851871

rs_752994816

9 SubmittersRCV000592239 RCV000668244 RCV001810463 RCV001844840

NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)

SNV
Germline

Chr6:52024617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852594

rs_146531432

5 SubmittersRCV000594808 RCV001083334 RCV003962691

NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp)

SNV
Germline

Chr6:51836457

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851730

rs_201254195

4 SubmittersRCV000591619 RCV001455016 RCV002532508 RCV005034167

NM_138694.4(PKHD1):c.4380C>T (p.Asn1460=)

SNV
Germline

Chr6:52025430

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852731

rs_371934160

2 SubmittersRCV000592318 RCV001393955

NM_138694.4(PKHD1):c.7957C>T (p.Leu2653=)

SNV
Germline

Chr6:51847925

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851779

rs_556212333

2 SubmittersRCV000591999 RCV001477670

NM_138694.4(PKHD1):c.333C>T (p.Phe111=)

SNV
Germline

Chr6:52079957

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853964

rs_145815264

4 SubmittersRCV000597760 RCV001080377

NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=)

SNV
Germline

Chr6:51934189

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852359

rs_373208457

3 SubmittersRCV000596253 RCV001438016 RCV003900338

NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=)

SNV
Germline

Chr6:51619105

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3850597

rs_750988521

2 SubmittersRCV000596589 RCV001472732

NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)

SNV
Germline

Chr6:51887151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852058

rs_76260483

7 SubmittersRCV000593964 RCV000860707 RCV003133390 RCV003927931 RCV004721471

NM_138694.4(PKHD1):c.1234-9T>C

SNV
Germline

Chr6:52058610

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853605

rs_200707468

6 SubmittersRCV000594972 RCV001087022

NM_138694.4(PKHD1):c.8798-7G>A

SNV
Germline

Chr6:51753360

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA658796772

rs_1554220805

2 SubmittersRCV000593024 RCV001414200

NM_138694.4(PKHD1):c.12198C>T (p.His4066=)

SNV
Germline

Chr6:51619108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850599

rs_147051900

4 SubmittersRCV000598127 RCV001083955 RCV003952995

NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)

SNV
Germline

Chr6:52050274

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3853314

rs_140608845

6 SubmittersRCV000595818 RCV000633433 RCV003927935 RCV004760640

NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)

SNV
Germline

Chr6:51632623

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850780

rs_752509045

4 SubmittersRCV000597922 RCV001272767 RCV003945430

NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)

SNV
Germline

Chr6:51659233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA450612759

rs_1290859259

3 SubmittersRCV000592861 RCV002532612 RCV003900349

NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr)

SNV
Germline

Chr6:52025360

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852720

rs_144905283

5 SubmittersRCV000592486 RCV001400967 RCV004748845

NM_138694.4(PKHD1):c.2280-10C>T

SNV
Germline

Chr6:52048629

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA3853263

rs_749295454

4 SubmittersRCV000593882 RCV001082366 RCV001174910

NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=)

SNV
Germline

Chr6:52024998

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852667

rs_780533224

3 SubmittersRCV000594435 RCV001407345

NM_138694.4(PKHD1):c.8107+8T>G

SNV
Germline

Chr6:51847767

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851754

rs_368339881

4 SubmittersRCV000597059 RCV001086655

NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)

SNV
Germline

Chr6:52024939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852650

rs_190396031

6 SubmittersRCV000596307 RCV001088747 RCV002470925 RCV003953000

NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)

SNV
Germline

Chr6:52058528

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3853588

rs_146789444

6 SubmittersRCV004024858 RCV000765892 RCV003927945 RCV000597573

NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)

SNV
Germline

Chr6:52025976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852828

rs_145960781

4 SubmittersRCV003915738 RCV000592266 RCV001084430

NM_138694.4(PKHD1):c.7734-6C>A

SNV
Germline

Chr6:51856076

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851847

rs_367564272

4 SubmittersRCV000591197 RCV001174777 RCV001088505

NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)

SNV
Germline

Chr6:51791341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851659

rs_144106341

5 SubmittersRCV000595130 RCV001085949 RCV003420049

NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)

SNV
Germline

Chr6:51659216

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3850991

rs_371329493

5 SubmittersRCV005392159 RCV000596248 RCV001159983 RCV002532684

NM_138694.4(PKHD1):c.708-5C>T

SNV
Germline

Chr6:52069532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853798

rs_371844893

4 SubmittersRCV000592255 RCV003900360 RCV005034180 RCV001428619

NM_138694.4(PKHD1):c.2141-4C>G

SNV
Germline

Chr6:52050299

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA138967898

rs_1042054004

3 SubmittersRCV000599094 RCV001276780

NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg)

SNV
Germline

Chr6:51748470

Likely pathogenic

Inborn genetic diseases
Polycystic kidney disease
Autosomal recessive polycystic kidney disease
Condition: not provided
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851440

rs_367678592

7 SubmittersRCV000624573 RCV001292490 RCV001377108 RCV005409688 RCV003471977

NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val)

SNV
Germline

Chr6:51830878

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA364423006

rs_1554263076

1 SubmittersRCV000625613

NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)

SNV
Germline

Chr6:51747970

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851359

rs_758732107

2 SubmittersRCV000633429 RCV003459514

NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)

SNV
Germline

Chr6:51856068

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851845

rs_78361537

6 SubmittersRCV000633430 RCV000731742 RCV005034207 RCV004748870

NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)

SNV
Germline

Chr6:51870560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364419539

rs_1366295189

5 SubmittersRCV000633422 RCV000731567 RCV002477389

NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)

SNV
Germline

Chr6:52084911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3854076

rs_750588859

5 SubmittersRCV000633432 RCV001569911 RCV003432661 RCV005034208

NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)

SNV
Germline

Chr6:51791359

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3851664

rs_747322128

11 SubmittersRCV000633431 RCV000681915 RCV002499047 RCV003392471

NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)

SNV
Germline

Chr6:52028253

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364440564

rs_1554200780

2 SubmittersRCV000633434 RCV002499048

NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)

SNV
Germline

Chr6:52060038

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853636

rs_376040501

12 SubmittersRCV000633428 RCV000681916 RCV001784205 RCV004748869

NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)

SNV
Germline

Chr6:51619425

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3850669

rs_144193508

9 SubmittersRCV000665966 RCV001784237 RCV002245081

NM_138694.4(PKHD1):c.11785+1G>T

SNV
Germline

Chr6:51626996

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364418276

rs_1488844530

2 SubmittersRCV000670802 RCV005430681

NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)

SNV
Germline

Chr6:51748245

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364421229

rs_373241537

3 SubmittersRCV000666787 RCV005430448

NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)

SNV
Germline

Chr6:51753258

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851498

rs_770068023

3 SubmittersRCV000672675 RCV005430740

NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)

SNV
Germline

Chr6:51775810

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364437636

rs_1554232224

4 SubmittersRCV000667214 RCV003387905

NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)

SNV
Germline

Chr6:51934134

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3852352

rs_369626030

5 SubmittersRCV000670644 RCV003472125

NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)

SNV
Germline

Chr6:52022858

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852544

rs_770522674

9 SubmittersRCV000664790 RCV002305527 RCV002507150 RCV004748888

NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)

SNV
Germline

Chr6:52069498

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA138921720

rs_1037991711

2 SubmittersRCV000667175 RCV005430558

NM_138694.4(PKHD1):c.282-2A>T

SNV
Germline

Chr6:52080010

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364439816

rs_1554227278

4 SubmittersRCV000667904 RCV000998621 RCV003465479

NM_138694.4(PKHD1):c.53-2A>G

SNV
Germline

Chr6:52083257

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

No Assertion Criteria Provided

CA364441045

rs_1554228601

2 SubmittersRCV005606700 RCV005430820

NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)

SNV
Germline

Chr6:51649177

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
not specified

Criteria Provided
Conflicting Classifications

CA364426388

rs_1554176504

4 SubmittersRCV000669544 RCV005046883 RCV004702289

NM_138694.4(PKHD1):c.9998+1G>T

SNV
Germline

Chr6:51746720

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364419178

rs_1554217691

3 SubmittersRCV000671557 RCV003459627

NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)

SNV
Germline

Chr6:51748246

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364421233

rs_1554218666

6 SubmittersRCV000670899 RCV003465502

NM_138694.4(PKHD1):c.11665+1G>A

SNV
Germline

Chr6:51632564

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3850767

rs_759851475

7 SubmittersRCV000671482 RCV001784270

NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)

SNV
Germline

Chr6:51649111

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364425853

rs_1229349983

4 SubmittersRCV000675040 RCV003465541

NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)

SNV
Germline

Chr6:51747987

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851361

rs_141081295

7 SubmittersRCV000664770 RCV003129981 RCV004719925

NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)

SNV
Germline

Chr6:51748557

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851455

rs_757148837

3 SubmittersRCV000674611 RCV004568567

NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)

SNV
Germline

Chr6:52024681

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852607

rs_749294509

6 SubmittersRCV000665691 RCV001526534 RCV003442011 RCV001293534 RCV005430418

NM_138694.4(PKHD1):c.7912-1G>A

SNV
Germline

Chr6:51847971

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364429636

rs_1160209891

2 SubmittersRCV000666936 RCV005430455

NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)

SNV
Germline

Chr6:51627042

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3850719

rs_761704401

6 SubmittersRCV000670650 RCV003392511 RCV003459618

NM_138694.4(PKHD1):c.2822-1G>C

SNV
Germline

Chr6:52043135

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364442491

rs_1554208257

3 SubmittersRCV000671833 RCV003459631

NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)

SNV
Germline

Chr6:52065000

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA3853700

rs_890884615

2 SubmittersRCV000670400 RCV005430667

NM_138694.4(PKHD1):c.7486+1G>T

SNV
Germline

Chr6:51870503

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364419285

rs_1554282419

2 SubmittersRCV000672762 RCV005430742

NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)

SNV
Germline

Chr6:51744483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851258

rs_777377414

5 SubmittersRCV000673683 RCV000788834 RCV003459642 RCV003330894

NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)

SNV
Germline

Chr6:52084923

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364441137

rs_1554229312

4 SubmittersRCV000673461 RCV004568554

NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)

SNV
Germline

Chr6:51887175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852065

rs_141360909

8 SubmittersRCV000665022 RCV000727569 RCV004748889 RCV005430399

NM_138694.4(PKHD1):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:52084933

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3854082

rs_376987651

4 SubmittersRCV000665223 RCV001292012 RCV002477480

NM_138694.4(PKHD1):c.6809-2A>G

SNV
Germline

Chr6:51904044

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364430858

rs_1340926191

4 SubmittersRCV000670931 RCV002499176

NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)

SNV
Germline

Chr6:52017489

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA138936187

rs_913487671

4 SubmittersRCV000666915 RCV003403545 RCV005430453

NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)

SNV
Germline

Chr6:52017562

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364426119

rs_1554194511

3 SubmittersRCV000665876 RCV005430422

NM_138694.4(PKHD1):c.8555-2A>G

SNV
Germline

Chr6:51772791

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364435817

rs_1020621286

2 SubmittersRCV000669137 RCV004568521

NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)

SNV
Germline

Chr6:52025393

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364433310

rs_1554198717

3 SubmittersRCV000671958 RCV005046894

NM_138694.4(PKHD1):c.7350+653A>G

SNV
Germline

Chr6:51882440

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA658822578

rs_1240212722

8 SubmittersRCV000667179 RCV002272320 RCV005415584

NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)

SNV
Germline

Chr6:51903693

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852126

rs_776060304

7 SubmittersRCV000674293 RCV001565179 RCV003411585 RCV003472168

NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)

SNV
Germline

Chr6:52043020

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853073

rs_747895516

4 SubmittersRCV000668499 RCV003459597

NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)

SNV
Germline

Chr6:52043102

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364442421

rs_773136605

2 SubmittersRCV000664542 RCV005430386

NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)

SNV
Germline

Chr6:51934157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364417659

rs_1554144226

6 SubmittersRCV000667357 RCV003442013 RCV005208145

NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)

SNV
Germline

Chr6:52050220

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853303

rs_758352210

6 SubmittersRCV000664559 RCV003472063

NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)

SNV
Germline

Chr6:52026063

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852850

rs_748540413

7 SubmittersRCV000667920 RCV003236830 RCV003459590 RCV003918107

NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)

SNV
Germline

Chr6:52058438

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853568

rs_750730042

6 SubmittersRCV000666503 RCV003459579

NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)

SNV
Germline

Chr6:52058438

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138916776

rs_750730042

8 SubmittersRCV000671679 RCV002509503 RCV001784272

NM_138694.4(PKHD1):c.707+2T>C

SNV
Germline

Chr6:52070404

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364432788

rs_1554222939

2 SubmittersRCV000665516 RCV005430410

NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)

SNV
Germline

Chr6:52062542

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364428421

rs_1554219429

3 SubmittersRCV000665124 RCV004568489

NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)

SNV
Germline

Chr6:52065011

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364429585

rs_1288017883

3 SubmittersRCV000667097 RCV005430555

NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)

SNV
Germline

Chr6:52066046

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853750

rs_754448530

3 SubmittersRCV000666991 RCV002499157

NM_138694.4(PKHD1):c.53-1G>A

SNV
Germline

Chr6:52083256

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3854051

rs_775511838

6 SubmittersRCV000666433 RCV002499152

NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)

SNV
Germline

Chr6:52079950

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364439597

rs_1554227215

2 SubmittersRCV000677707

NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)

SNV
Germline

Chr16:2092492

Pathogenic

Condition: not provided
Polycystic kidney disease, adult type
Polycystic kidney disease
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394336136

rs_1167476946

7 SubmittersRCV000681771 RCV001283789 RCV001291995 RCV005407879

NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)

SNV
Germline

Chr6:52044979

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853146

rs_764696718

6 SubmittersRCV000700684 RCV001810482 RCV001507099 RCV002469268

NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)

SNV
Germline

Chr6:51747897

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA138895870

rs_146649803

7 SubmittersRCV000694411 RCV002493192

NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)

SNV
Germline

Chr6:51906282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852189

rs_750190287

4 SubmittersRCV000728703 RCV001085990 RCV004748905

NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)

SNV
Germline

Chr6:52076296

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853934

rs_141093030

5 SubmittersRCV000700536 RCV001759393 RCV002485720

NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)

SNV
Germline

Chr6:51659724

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851085

rs_748863662

4 SubmittersRCV000706858 RCV005046968

NM_138694.4(PKHD1):c.5751+1G>A

SNV
Germline

Chr6:52010308

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138929931

rs_775638588

4 SubmittersRCV000685078 RCV002493135 RCV003332226

NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)

SNV
Germline

Chr6:51659916

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3851129

rs_147612089

7 SubmittersRCV000727592 RCV000814275 RCV003151141 RCV002535047 RCV003953290

NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)

SNV
Germline

Chr6:51748247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851398

rs_745523374

6 SubmittersRCV000727601 RCV001165018 RCV001579056 RCV003892600

NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr)

SNV
Germline

Chr6:51748462

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851439

rs_765526

3 SubmittersRCV000728276 RCV001469642

NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)

SNV
Germline

Chr6:51883135

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851977

rs_771622189

4 SubmittersRCV000728325 RCV001431382 RCV003918189 RCV005036046

NM_138694.4(PKHD1):c.4554A>G (p.Val1518=)

SNV
Germline

Chr6:52025256

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450614420

rs_1562163878

2 SubmittersRCV000728578 RCV001412222

NM_138694.4(PKHD1):c.3628+9C>A

SNV
Germline

Chr6:52027820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852888

rs_552339299

5 SubmittersRCV000728652 RCV001088265 RCV003892606

NM_138694.4(PKHD1):c.1257C>T (p.Val419=)

SNV
Germline

Chr6:52058578

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853596

rs_374650666

4 SubmittersRCV000728709 RCV001081968

NM_138694.4(PKHD1):c.5130G>T (p.Pro1710=)

SNV
Germline

Chr6:52024680

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852605

rs_769591140

2 SubmittersRCV000728778 RCV001460800

NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)

SNV
Germline

Chr6:51659052

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA501157

rs_769559267

11 SubmittersRCV000728802 RCV001004187 RCV001844843 RCV003465658

NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)

SNV
Germline

Chr6:52059960

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3853623

rs_192769565

5 SubmittersRCV000728806 RCV000813285 RCV003130027 RCV004026954

NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys)

SNV
Germline

Chr6:51746781

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851289

rs_763499782

5 SubmittersRCV000728890 RCV001435317 RCV004026957 RCV004748926 RCV005036053

NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)

SNV
Germline

Chr6:51747954

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3851356

rs_145141656

7 SubmittersRCV000729058 RCV001239749 RCV002485863 RCV004026962

NM_138694.4(PKHD1):c.1512+9C>G

SNV
Germline

Chr6:52058314

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853543

rs_774440496

2 SubmittersRCV000729337 RCV001401864

NM_138694.4(PKHD1):c.7906C>T (p.Leu2636=)

SNV
Germline

Chr6:51855898

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851803

rs_568173041

2 SubmittersRCV000729370 RCV001446101

NM_138694.4(PKHD1):c.1693+9C>T

SNV
Germline

Chr6:52056689

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853483

rs_753648991

2 SubmittersRCV000729585 RCV001458179

NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)

SNV
Germline

Chr6:51748509

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138896669

rs_893497345

10 SubmittersRCV000729595 RCV001281214 RCV001526419

NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)

SNV
Germline

Chr6:51659875

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA3851121

rs_372394177

4 SubmittersRCV000729602 RCV001084412 RCV002222618

NM_138694.4(PKHD1):c.977-7C>G

SNV
Germline

Chr6:52062667

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138918441

rs_1054774956

4 SubmittersRCV000729652 RCV001244705 RCV003908033

NM_138694.4(PKHD1):c.3411G>A (p.Thr1137=)

SNV
Germline

Chr6:52028305

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852945

rs_138350291

2 SubmittersRCV000729744 RCV001086178

NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)

SNV
Germline

Chr6:51659715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851083

rs_553752644

4 SubmittersRCV000729759 RCV001085424 RCV004748929

NM_138694.4(PKHD1):c.8886C>T (p.Asp2962=)

SNV
Germline

Chr6:51753265

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851501

rs_138464473

2 SubmittersRCV000729762 RCV001487514

NM_138694.4(PKHD1):c.10514G>A (p.Ser3505Asn)

SNV
Germline

Chr6:51659612

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851062

rs_200244173

5 SubmittersRCV000729843 RCV003344027 RCV005092137 RCV005036059

NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)

SNV
Germline

Chr6:51659158

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA450612757

rs_1303599332

3 SubmittersRCV000729845 RCV002067101 RCV001779069

NM_138694.4(PKHD1):c.7626T>C (p.Ser2542=)

SNV
Germline

Chr6:51867970

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851887

rs_544539357

2 SubmittersRCV000729925 RCV001481278

NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)

SNV
Germline

Chr6:52024956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852654

rs_140674740

4 SubmittersRCV000730273 RCV001085506 RCV003947924

NM_138694.4(PKHD1):c.6564C>T (p.Ile2188=)

SNV
Germline

Chr6:51909401

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852230

rs_767464690

2 SubmittersRCV000730299 RCV001444373

NM_138694.4(PKHD1):c.12094C>T (p.Pro4032Ser)

SNV
Germline

Chr6:51619212

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3850619

rs_756859994

3 SubmittersRCV000730452 RCV001396667 RCV004649303

NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)

SNV
Germline

Chr6:52055590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853430

rs_142922408

3 SubmittersRCV000730531 RCV001087302 RCV003965523

NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=)

SNV
Germline

Chr6:51619093

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450410778

rs_1406924877

2 SubmittersRCV000730659 RCV002535160

NM_138694.4(PKHD1):c.3953A>T (p.His1318Leu)

SNV
Germline

Chr6:52025857

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852805

rs_200733734

5 SubmittersRCV000730746 RCV001418303 RCV003420301 RCV005357970

NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=)

SNV
Germline

Chr6:52010354

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852450

rs_755566688

3 SubmittersRCV000730764 RCV001087402

NM_138694.4(PKHD1):c.3452C>T (p.Pro1151Leu)

SNV
Germline

Chr6:52028264

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852934

rs_574099162

4 SubmittersRCV000730876 RCV001453752 RCV004649304

NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)

SNV
Germline

Chr6:51855994

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3851831

rs_201091083

5 SubmittersRCV000730885 RCV000862301 RCV003938109

NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)

SNV
Germline

Chr6:51885912

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852027

rs_368101035

4 SubmittersRCV000730934 RCV001469182 RCV003947926

NM_138694.4(PKHD1):c.868G>A (p.Val290Ile)

SNV
Germline

Chr6:52065988

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853737

rs_773123823

4 SubmittersRCV000731006 RCV002060998 RCV004800562 RCV005036063

NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)

SNV
Germline

Chr6:51619159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA450410823

rs_1561967407

3 SubmittersRCV000731123 RCV001494344 RCV003983190

NM_138694.4(PKHD1):c.8970T>C (p.Asn2990=)

SNV
Germline

Chr6:51748646

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450614196

rs_1293255485

2 SubmittersRCV000731173 RCV002067113

NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)

SNV
Germline

Chr6:52024677

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852603

rs_144841026

3 SubmittersRCV000731259 RCV001494248 RCV003965528

NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)

SNV
Germline

Chr6:52017490

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852498

rs_535128714

4 SubmittersRCV000731260 RCV001087601 RCV001507322 RCV004748938

NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)

SNV
Germline

Chr6:51791312

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851654

rs_777017196

3 SubmittersRCV000731738 RCV001451525 RCV003892640

NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)

SNV
Germline

Chr6:52046133

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3853202

rs_9474136

4 SubmittersRCV000731927 RCV001160097

NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)

SNV
Germline

Chr6:51747953

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851355

rs_371508721

4 SubmittersRCV000731936 RCV001086246 RCV003928238

NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)

SNV
Germline

Chr6:52022922

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852552

rs_200864129

3 SubmittersRCV000732041 RCV001078822

NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His)

SNV
Germline

Chr6:51748045

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851369

rs_372102850

5 SubmittersRCV000732167 RCV001470943 RCV003165982 RCV005046994

NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)

SNV
Germline

Chr6:52046152

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853205

rs_145789167

6 SubmittersRCV000732312 RCV001160098 RCV002535265 RCV005392340

NM_138694.4(PKHD1):c.7758T>C (p.Tyr2586=)

SNV
Germline

Chr6:51856046

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851839

rs_769256062

2 SubmittersRCV000732379 RCV002061009

NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)

SNV
Germline

Chr6:52055658

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853454

rs_137972270

4 SubmittersRCV000732510 RCV001158858 RCV005046996

NM_138694.4(PKHD1):c.4341G>A (p.Leu1447=)

SNV
Germline

Chr6:52025469

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450614612

rs_1562165566

2 SubmittersRCV000732561 RCV002535279

NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)

SNV
Germline

Chr6:51883159

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851983

rs_200807210

3 SubmittersRCV000732563 RCV001079187

NM_138694.4(PKHD1):c.7665C>T (p.Ser2555=)

SNV
Germline

Chr6:51867931

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851878

rs_373409786

2 SubmittersRCV000732889 RCV001088194

NM_138694.4(PKHD1):c.10524C>A (p.Val3508=)

SNV
Germline

Chr6:51659602

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450613163

rs_1562042503

2 SubmittersRCV000732919 RCV001459282

NM_138694.4(PKHD1):c.3393G>A (p.Ala1131=)

SNV
Germline

Chr6:52028323

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450615178

rs_1562177292

2 SubmittersRCV000733075 RCV001449132

NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)

SNV
Germline

Chr6:51627035

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3850716

rs_760426769

5 SubmittersRCV000733087 RCV001004184 RCV002485925 RCV003892657

NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=)

SNV
Germline

Chr6:51775896

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA138908801

rs_974957771

2 SubmittersRCV000733145 RCV001504049

NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)

SNV
Germline

Chr6:52058580

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853598

rs_138672830

6 SubmittersRCV000733367 RCV001088603 RCV005036069 RCV002535325 RCV004748950

NM_138694.4(PKHD1):c.7956G>T (p.Leu2652=)

SNV
Germline

Chr6:51847926

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851780

rs_375920156

2 SubmittersRCV000733392 RCV001453287

NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)

SNV
Germline

Chr6:52025975

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3852827

rs_201611688

6 SubmittersRCV000733515 RCV000863592 RCV003938122 RCV005357976

NM_138694.4(PKHD1):c.873C>T (p.Thr291=)

SNV
Germline

Chr6:52065983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853736

rs_769773725

4 SubmittersRCV000733844 RCV001437834 RCV003892665

NM_138694.4(PKHD1):c.5411G>A (p.Arg1804His)

SNV
Germline

Chr6:52017599

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852515

rs_151160618

6 SubmittersRCV000734169 RCV001475419 RCV002535370 RCV005047006 RCV004748955

NM_138694.4(PKHD1):c.831C>T (p.Ile277=)

SNV
Germline

Chr6:52066025

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853744

rs_142678486

3 SubmittersRCV000734196 RCV001465273 RCV003918225

NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)

SNV
Germline

Chr6:51748271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851405

rs_760710708

5 SubmittersRCV000734373 RCV001089295 RCV003928247

NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)

SNV
Germline

Chr6:52044984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA450420402

rs_1562217633

4 SubmittersRCV000734458 RCV000820942 RCV003965550

NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)

SNV
Germline

Chr6:52025982

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450614914

rs_1373102999

3 SubmittersRCV000734496 RCV001078959

NM_138694.4(PKHD1):c.5787C>T (p.Ser1929=)

SNV
Germline

Chr6:51959991

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450416438

rs_1561990875

2 SubmittersRCV000734497 RCV001400195

NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)

SNV
Germline

Chr6:52025263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852703

rs_200278368

4 SubmittersRCV000734548 RCV001034185 RCV001449925

NM_138694.4(PKHD1):c.2610T>C (p.Leu870=)

SNV
Germline

Chr6:52045071

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA138963565

rs_368451393

2 SubmittersRCV000734585 RCV001487748

NM_138694.4(PKHD1):c.3432C>T (p.His1144=)

SNV
Germline

Chr6:52028284

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852939

rs_376881116

3 SubmittersRCV000734593 RCV001455470

NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)

SNV
Germline

Chr6:52062654

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853666

rs_770494581

7 SubmittersRCV000734720 RCV001332901 RCV001004214

NM_138694.4(PKHD1):c.9282C>T (p.Asn3094=)

SNV
Germline

Chr6:51748334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851418

rs_113402912

3 SubmittersRCV000734723 RCV001419871 RCV005036075

NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)

SNV
Germline

Chr6:51659595

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3851058

rs_112030234

6 SubmittersRCV000734724 RCV001033975 RCV003243285 RCV003424325

NM_138694.4(PKHD1):c.5283T>G (p.Ser1761=)

SNV
Germline

Chr6:52022898

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852546

rs_759156564

2 SubmittersRCV000734939 RCV001427804

NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)

SNV
Germline

Chr6:52024944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852651

rs_571966529

3 SubmittersRCV001086403 RCV000735023 RCV003955483

NM_138694.4(PKHD1):c.6479A>G (p.Asn2160Ser)

SNV
Germline

Chr6:51911810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852253

rs_577306911

3 SubmittersRCV000735073 RCV001499167 RCV005047010

NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)

SNV
Germline

Chr6:52025544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852748

rs_146468152

4 SubmittersRCV000735119 RCV001079793 RCV003908061

NM_138694.4(PKHD1):c.9829+1G>A

SNV
Germline

Chr6:51747786

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA364419908

rs_1273202231

1 SubmittersRCV000766230

NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)

SNV
Germline

Chr6:52046089

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853194

rs_199568593

15 SubmittersRCV000788709 RCV000779513 RCV001810485 RCV004748964

NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)

SNV
Germline

Chr6:51659361

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364432355

rs_780182068

4 SubmittersRCV000781731 RCV003472319

NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)

SNV
Germline

Chr6:51659382

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851024

rs_148300854

3 SubmittersRCV000781724 RCV002501020

NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)

SNV
Germline

Chr6:51659776

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364436139

rs_765652131

2 SubmittersRCV000781723

NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)

SNV
Germline

Chr6:51746721

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364419182

rs_1057524563

4 SubmittersRCV000781721 RCV002469287 RCV003461059

NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)

SNV
Germline

Chr6:52055649

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853450

rs_779050294

7 SubmittersRCV000781727 RCV001507664 RCV002477789

NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)

SNV
Germline

Chr6:52071028

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364433410

rs_557437764

1 SubmittersRCV000781728

NM_138694.4(PKHD1):c.8951-13C>T

SNV
Germline

Chr6:51748678

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3851470

rs_112249812

4 SubmittersRCV001158304 RCV000781729 RCV001574413

NM_138694.4(PKHD1):c.8642+1G>A

SNV
Germline

Chr6:51772701

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364434739

rs_1485161784

5 SubmittersRCV000781719 RCV003461058

NM_138694.4(PKHD1):c.390+1G>T

SNV
Germline

Chr6:52079899

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853953

rs_752327566

8 SubmittersRCV000780595 RCV000788977 RCV001810486

NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)

SNV
Germline

Chr16:2108511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394373142

rs_1567191874

5 SubmittersRCV000785952 RCV000992593 RCV005012305

NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)

SNV
Germline

Chr6:51753287

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA364426973

rs_1582469538

1 SubmittersRCV000786871

NM_138694.4(PKHD1):c.8798-2A>T

SNV
Germline

Chr6:51753355

Pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA364427322

rs_1582470309

1 SubmittersRCV000786959

NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)

SNV
Germline

Chr6:51775844

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3851606

rs_200432861

7 SubmittersRCV001844847 RCV000788914 RCV003472329 RCV001004194 RCV004748966

NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)

SNV
Germline

Chr6:52025480

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364434012

rs_1581808463

3 SubmittersRCV000788601 RCV001220463

NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)

SNV
Germline

Chr6:52028249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA501158

rs_367707903

11 SubmittersRCV001027935 RCV000788447 RCV001844845 RCV001004206 RCV001810487 RCV003396367 RCV005626211

NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)

SNV
Germline

Chr6:52043092

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853085

rs_777158800

6 SubmittersRCV000788922 RCV003928273 RCV001035971 RCV001292497

NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)

SNV
Germline

Chr6:52062521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364428295

rs_1582038191

4 SubmittersRCV000788572 RCV000813103 RCV005036121

NM_138694.4(PKHD1):c.11175-12T>C

SNV
Germline

Chr6:51649232

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA825711049

rs_1424171216

2 SubmittersRCV000788882 RCV003611534

NM_138694.4(PKHD1):c.778+1G>C

SNV
Germline

Chr6:52069456

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853780

rs_753471298

5 SubmittersRCV000788835 RCV003472328 RCV001229792

NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)

SNV
Germline

Chr6:51638903

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA364421770

rs_1385935333

4 SubmittersRCV000799470 RCV001262018

NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)

SNV
Germline

Chr6:51747997

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364420683

rs_1242089464

6 SubmittersRCV001353367 RCV000814732 RCV004702447 RCV004748981

NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)

SNV
Germline

Chr6:51748613

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364424247

rs_775628123

2 SubmittersRCV000821994 RCV003461276

NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)

SNV
Germline

Chr6:52055675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138916092

rs_369292828

7 SubmittersRCV000809918 RCV005036182 RCV003117601 RCV005251226

NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)

SNV
Germline

Chr6:52073520

Pathogenic

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Single Submitter

CA364436302

rs_1278235097

3 SubmittersRCV000794343 RCV004748968

NM_138694.4(PKHD1):c.11398+2T>C

SNV
Germline

Chr6:51648029

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3850881

rs_754038777

3 SubmittersRCV000812342 RCV002470987

NM_138694.4(PKHD1):c.6809-2A>T

SNV
Germline

Chr6:51904044

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364430851

rs_1340926191

4 SubmittersRCV000804473 RCV002290976

NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)

SNV
Germline

Chr6:51885919

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3852029

rs_371830478

4 SubmittersRCV000861090 RCV003975368 RCV005036243

NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)

SNV
Germline

Chr6:51934321

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852379

rs_200730851

4 SubmittersRCV000864081 RCV004749485

NM_138694.4(PKHD1):c.5534A>G (p.Gln1845Arg)

SNV
Germline

Chr6:52017476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852496

rs_566044331

3 SubmittersRCV000863874 RCV003965675 RCV004588308

NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)

SNV
Germline

Chr6:52055607

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
PKHD1-related disorder
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3853438

rs_560133266

6 SubmittersRCV000861182 RCV003480882 RCV003965634 RCV005036244 RCV003259003

NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=)

SNV
Germline

Chr6:52024650

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852598

rs_754333450

2 SubmittersRCV000864476

NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)

SNV
Germline

Chr6:52044978

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3853145

rs_199768081

3 SubmittersRCV000864517 RCV001091110

NM_138694.4(PKHD1):c.11175-10T>G

SNV
Germline

Chr6:51649230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850932

rs_373424543

3 SubmittersRCV000867555 RCV001358162 RCV005036246

NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)

SNV
Germline

Chr6:51934177

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852357

rs_774944622

3 SubmittersRCV000875591

NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)

SNV
Germline

Chr6:52082465

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853996

rs_781485593

4 SubmittersRCV000872201 RCV003948183

NM_138694.4(PKHD1):c.5601-8C>T

SNV
Germline

Chr6:52010467

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852466

rs_578030952

4 SubmittersRCV000874147 RCV003955716

NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)

SNV
Germline

Chr6:51627087

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364418904

rs_1295732689

3 SubmittersRCV000984960 RCV003132130

NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)

SNV
Unknown

Chr6:52046072

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443165

rs_1203260419

1 SubmittersRCV000987717

NM_138694.4(PKHD1):c.1693+2T>G

SNV
Unknown

Chr6:52056696

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364424849

rs_1581999471

1 SubmittersRCV000987718

NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)

SNV
Germline

Chr6:52059981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364427532

rs_1582024305

3 SubmittersRCV000987719 RCV004702555 RCV005047160

NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)

SNV
Germline

Chr6:51830924

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364423592

rs_794727756

3 SubmittersRCV000991309 RCV002505501

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_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)

SNV
Germline

Chr6:52025623

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA364435183

rs_1581809655

5 SubmittersRCV000995603 RCV004526792 RCV005047175

NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)

SNV
Unknown

Chr6:52043006

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364442210

rs_1581910796

1 SubmittersRCV001002793

NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)

SNV
Germline

Chr6:51632619

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3850778

rs_754626014

4 SubmittersRCV001004185 RCV002505537

NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)

SNV
Germline

Chr6:51753216

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851491

rs_765020336

5 SubmittersRCV001004189 RCV002471011

NM_138694.4(PKHD1):c.8174-2A>T

SNV
Germline

Chr6:51830991

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

CA364424049

rs_1582925274

2 SubmittersRCV003611544 RCV002290985

NM_138694.4(PKHD1):c.5751+3A>G

SNV
Germline

Chr6:52010306

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA915944271

rs_1581726525

5 SubmittersRCV001004199 RCV002471012

NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)

SNV
Germline

Chr6:52010310

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364422442

rs_1412045164

4 SubmittersRCV001004200 RCV001786423 RCV003467571 RCV004800658

NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)

SNV
Germline

Chr6:52025590

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364434847

rs_1464962854

4 SubmittersRCV001004203 RCV003473546

NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)

SNV
Germline

Chr6:52025663

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435578

rs_1226122841

1 SubmittersRCV001004204

NM_138694.4(PKHD1):c.2140+1G>A

SNV
Germline

Chr6:52053075

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443963

rs_1554213853

1 SubmittersRCV001004208

NM_138694.4(PKHD1):c.1836+1G>A

SNV
Germline

Chr6:52055586

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853427

rs_780898021

4 SubmittersRCV001004210 RCV002290987 RCV005626296

NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)

SNV
Germline

Chr6:52055724

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364424834

rs_1581992845

1 SubmittersRCV001004211

NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)

SNV
Germline

Chr6:52056938

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425214

rs_1582002018

1 SubmittersRCV001004212

NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)

SNV
Germline

Chr6:52065033

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364429723

rs_1582053820

4 SubmittersRCV001004215 RCV002466599 RCV003461307

NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter)

SNV
Germline

Chr6:52069504

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364432004

rs_1582085757

1 SubmittersRCV001004216

NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)

SNV
Germline

Chr6:52071006

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853829

rs_749454235

5 SubmittersRCV001004217 RCV002290520 RCV003461308

NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)

SNV
Germline

Chr6:52073516

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364436283

rs_1350620976

5 SubmittersRCV001004218 RCV003325530 RCV003461309

NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter)

SNV
Germline

Chr6:51638880

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364421655

rs_1768958447

2 SubmittersRCV001050582

NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)

SNV
Germline

Chr6:51659220

Pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3850992

rs_765934021

3 SubmittersRCV001048012 RCV004794481

NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)

SNV
Germline

Chr6:51659712

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435670

rs_1772510920

2 SubmittersRCV001052108

NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys)

SNV
Germline

Chr6:51754910

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851549

rs_148990124

3 SubmittersRCV001067523 RCV005622062

NM_138694.4(PKHD1):c.8497T>C (p.Ser2833Pro)

SNV
Germline

Chr6:51775865

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364438101

rs_1790936941

1 SubmittersRCV001066753

NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)

SNV
Germline

Chr6:51836436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851727

rs_371665285

4 SubmittersRCV001036025 RCV002269330 RCV005036303

NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)

SNV
Germline

Chr6:51836455

Pathogenic

Autosomal recessive polycystic kidney disease
Autosomal dominant polycystic liver disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364426150

rs_1473182306

3 SubmittersRCV001070589 RCV001844851 RCV003469264

NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter)

SNV
Germline

Chr6:51885905

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364423520

rs_1436814142

2 SubmittersRCV001060122

NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)

SNV
Germline

Chr6:51903669

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA450415337

rs_373795139

3 SubmittersRCV001067958 RCV002482118

NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter)

SNV
Germline

Chr6:51909397

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435089

rs_1782629977

1 SubmittersRCV001037607

NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)

SNV
Germline

Chr6:51934185

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA364417720

rs_1413693039

5 SubmittersRCV001052236 RCV003473648 RCV003396673

NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)

SNV
Germline

Chr6:51959948

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852418

rs_774290802

7 SubmittersRCV001069479 RCV002497474 RCV003151279

NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)

SNV
Germline

Chr6:51960011

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364421795

rs_1313206550

2 SubmittersRCV001036123 RCV002481854

NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter)

SNV
Germline

Chr6:52024878

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364430553

rs_779028446

1 SubmittersRCV001034834

NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter)

SNV
Germline

Chr6:52025267

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364432533

rs_1433540169

2 SubmittersRCV001070680 RCV004570305

NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter)

SNV
Germline

Chr6:52028243

Pathogenic

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364440521

rs_1802523270

2 SubmittersRCV001508190 RCV001062632

NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr6:52046033

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443076

rs_1805754682

1 SubmittersRCV001044857

NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)

SNV
Germline

Chr6:52058426

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853565

rs_776845008

3 SubmittersRCV001055749 RCV005036354

NM_138694.4(PKHD1):c.6866-1G>C

SNV
Germline

Chr6:51903728

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364430258

rs_1781631365

1 SubmittersRCV001064967

NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)

SNV
Germline

Chr6:51619405

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3850660

rs_751385266

2 SubmittersRCV001159867

NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)

SNV
Germline

Chr6:51659243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850998

rs_147700643

4 SubmittersRCV001159984 RCV003992452 RCV003945879

NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg)

SNV
Germline

Chr6:51775859

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851610

rs_771108371

2 SubmittersRCV001163037

NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=)

SNV
Germline

Chr6:51903669

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852120

rs_373795139

2 SubmittersRCV001165235

NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)

SNV
Germline

Chr6:51909324

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852215

rs_778124617

3 SubmittersRCV001165237

NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=)

SNV
Germline

Chr6:52025919

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852814

rs_775529923

2 SubmittersRCV001161850

NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly)

SNV
Germline

Chr6:52026049

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852847

rs_148901752

4 SubmittersRCV001163375 RCV003928762 RCV004777976

NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)

SNV
Germline

Chr6:52045043

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853154

rs_752646435

5 SubmittersRCV001158738 RCV002480565

NM_138694.4(PKHD1):c.888A>G (p.Pro296=)

SNV
Germline

Chr6:52065043

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450421170

rs_76012218

2 SubmittersRCV001163579

NM_138694.4(PKHD1):c.11507-8C>T

SNV
Germline

Chr6:51632731

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3850795

rs_755710579

3 SubmittersRCV001162833 RCV003953549

NM_138694.4(PKHD1):c.7733+15C>A

SNV
Germline

Chr6:51867848

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851866

rs_771759749

2 SubmittersRCV001158419

NM_138694.4(PKHD1):c.7215+13G>T

SNV
Germline

Chr6:51885854

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852016

rs_562612275

2 SubmittersRCV001163154

NM_138694.4(PKHD1):c.5381-12T>C

SNV
Germline

Chr6:52017641

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852523

rs_143682303

2 SubmittersRCV001163263

NM_138694.4(PKHD1):c.281+13G>A

SNV
Germline

Chr6:52082379

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA1139659620

rs_1812167147

2 SubmittersRCV001158955

NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)

SNV
Germline

Chr6:52056701

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3853485

rs_765251347

9 SubmittersRCV001174805 RCV002471039 RCV004749614

NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr)

SNV
Germline

Chr6:52073532

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

CA364436371

rs_1810936262

1 SubmittersRCV001175221

NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)

SNV
Germline

Chr6:52072157

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435191

rs_1810710453

2 SubmittersRCV001194457

NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter)

SNV
Germline

Chr6:51847909

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429285

rs_1482563973

2 SubmittersRCV001221862

NM_138694.4(PKHD1):c.6893G>T (p.Arg2298Ile)

SNV
Germline

Chr6:51903700

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364430028

rs_1781623229

1 SubmittersRCV001219862

NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)

SNV
Germline

Chr6:52035701

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA138955134

rs_755183117

8 SubmittersRCV001222497 RCV001780149

NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)

SNV
Germline

Chr6:51904011

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364430562

rs_1583295819

5 SubmittersRCV001209271 RCV002051922

NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter)

SNV
Germline

Chr6:51959994

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364421712

rs_1791760028

1 SubmittersRCV001213042

NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter)

SNV
Germline

Chr6:52050179

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364443731

rs_1806573538

2 SubmittersRCV001211325 RCV005036468

NM_138694.4(PKHD1):c.1118+1G>T

SNV
Germline

Chr6:52062518

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364428281

rs_1808826795

2 SubmittersRCV001202003

NM_138694.4(PKHD1):c.8440+1G>A

SNV
Germline

Chr6:51791235

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441213

rs_1793689014

1 SubmittersRCV001218758

NM_138694.4(PKHD1):c.6808+1G>T

SNV
Germline

Chr6:51906214

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364432273

rs_1217968843

4 SubmittersRCV001223409 RCV004749627 RCV003469389

NM_138694.4(PKHD1):c.5380+2T>G

SNV
Germline

Chr6:52022799

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364427384

rs_1801591463

1 SubmittersRCV001218723

NM_138694.4(PKHD1):c.3561-1G>A

SNV
Germline

Chr6:52027897

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364440152

rs_1802457333

2 SubmittersRCV001219795 RCV001780143

NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter)

SNV
Germline

Chr6:51649172

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364426347

rs_778676351

1 SubmittersRCV001225449

NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)

SNV
Germline

Chr6:51911906

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364438707

rs_1783006864

3 SubmittersRCV001229987 RCV002491733 RCV004727011

NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)

SNV
Germline

Chr6:52024741

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364428820

rs_1801882752

3 SubmittersRCV001233821 RCV002497800

NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)

SNV
Germline

Chr6:52058325

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853544

rs_759322460

4 SubmittersRCV001238235 RCV003469446

NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)

SNV
Germline

Chr6:51746806

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3851293

rs_145745489

3 SubmittersRCV001247450 RCV003128756

NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly)

SNV
Germline

Chr6:51870521

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3851929

rs_746000400

5 SubmittersRCV001246937 RCV002504362 RCV004034877

NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter)

SNV
Germline

Chr6:52044968

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364442749

rs_1805547113

2 SubmittersRCV001243159

NM_138694.4(PKHD1):c.2280-2A>G

SNV
Germline

Chr6:52048621

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853259

rs_780675990

4 SubmittersRCV001245610 RCV003399012 RCV003989655

NM_138694.4(PKHD1):c.1964+1G>T

SNV
Germline

Chr6:52054037

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364422501

rs_1385712943

7 SubmittersRCV001248507 RCV001331697 RCV004778030

NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala)

SNV
Germline

Chr6:51791364

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364416579

rs_1793719203

1 SubmittersRCV001281212

NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)

SNV
Germline

Chr6:51847870

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
not specified

Criteria Provided
Conflicting Classifications

CA364429200

rs_778592523

3 SubmittersRCV001281211 RCV003469482 RCV004526097

NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro)

SNV
Germline

Chr6:51868004

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364418823

rs_1775360219

1 SubmittersRCV001281209

NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)

SNV
Germline

Chr6:51959875

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA364421240

rs_1791737049

2 SubmittersRCV001281208 RCV003132358

NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu)

SNV
Germline

Chr6:52066014

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364431006

rs_1809634616

1 SubmittersRCV001281213

NM_138694.4(PKHD1):c.790G>A (p.Val264Met)

SNV
Germline

Chr6:52066066

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364431253

rs_1809647915

1 SubmittersRCV001281210

NM_138694.4(PKHD1):c.6332+2T>A

SNV
Germline

Chr6:51912364

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364439118

rs_1783090781

5 SubmittersRCV001251457 RCV003399026 RCV004570644 RCV005245513 RCV005411699

NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro)

SNV
Unknown

Chr6:52033107

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441423

rs_1803322601

1 SubmittersRCV001257503

NM_138694.4(PKHD1):c.7721T>G (p.Met2574Arg)

SNV
Unknown

Chr6:51867875

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364418137

rs_768265052

1 SubmittersRCV001257504

NM_138694.4(PKHD1):c.880+1G>A

SNV
Germline

Chr6:52065975

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364430752

rs_1582064292

3 SubmittersRCV001257506 RCV004570650

NM_138694.4(PKHD1):c.2747A>C (p.His916Pro)

SNV
Germline

Chr6:52043699

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364442669

rs_1805300035

1 SubmittersRCV001257509

NM_138694.4(PKHD1):c.1001T>A (p.Val334Asp)

SNV
Germline

Chr6:52062636

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364428880

rs_1384539153

1 SubmittersRCV001257510

NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)

SNV
Germline

Chr6:52050266

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA364443895

rs_1806602099

2 SubmittersRCV001257511 RCV003235520

NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser)

SNV
Germline

Chr6:52033030

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441168

rs_1803308145

1 SubmittersRCV001257512

NM_138694.4(PKHD1):c.390+1G>A

SNV
Germline

Chr6:52079899

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364439345

rs_752327566

3 SubmittersRCV001257513 RCV003469487

NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)

SNV
Germline

Chr6:51649158

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA364426251

rs_1320401077

3 SubmittersRCV001257514 RCV002261328

NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)

SNV
Germline

Chr6:51934296

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364417956

rs_1583446897

5 SubmittersRCV001292352 RCV002504426 RCV004699281 RCV001863170

NM_138694.4(PKHD1):c.1694-2A>G

SNV
Germline

Chr6:52055731

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364424847

rs_1807619777

2 SubmittersRCV002017996 RCV005032106

NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)

SNV
Germline

Chr6:51748464

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364423467

rs_1374086784

5 SubmittersRCV001830113 RCV003320820 RCV004570671

NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)

SNV
Germline

Chr6:51659238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850996

rs_145219220

5 SubmittersRCV001306457 RCV002499580 RCV004749649 RCV005603715

NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)

SNV
Germline

Chr6:51791357

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851663

rs_374869252

3 SubmittersRCV001295962 RCV002480948

NM_138694.4(PKHD1):c.10157-2A>G

SNV
Germline

Chr6:51659971

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437730

rs_2150418852

1 SubmittersRCV001379991

NM_138694.4(PKHD1):c.9830-2A>G

SNV
Germline

Chr6:51746891

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA138895101

rs_890681861

4 SubmittersRCV001379513 RCV002504635

NM_138694.4(PKHD1):c.9830-2A>C

SNV
Germline

Chr6:51746891

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364419835

rs_890681861

1 SubmittersRCV001379520

NM_138694.4(PKHD1):c.9371A>G (p.His3124Arg)

SNV
Germline

Chr6:51748245

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA3851397

rs_373241537

1 SubmittersRCV001379393

NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly)

SNV
Germline

Chr6:51791358

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364416568

rs_1471306684

2 SubmittersRCV001378594 RCV005232300

NM_138694.4(PKHD1):c.8173+2T>G

SNV
Germline

Chr6:51836402

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425675

rs_2151549200

1 SubmittersRCV001379980

NM_138694.4(PKHD1):c.6683-2A>C

SNV
Germline

Chr6:51906342

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364433356

rs_2127637373

1 SubmittersRCV001379562

NM_138694.4(PKHD1):c.2592+1G>C

SNV
Germline

Chr6:52046003

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853178

rs_758812102

4 SubmittersRCV001379064 RCV002504634

NM_138694.4(PKHD1):c.1965-2A>T

SNV
Germline

Chr6:52053253

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364444630

rs_2128203974

2 SubmittersRCV001377496

NM_138694.4(PKHD1):c.977-1G>A

SNV
Germline

Chr6:52062661

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364428990

rs_1808864196

1 SubmittersRCV001377311

NM_138694.4(PKHD1):c.602+2T>A

SNV
Germline

Chr6:52072113

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364434527

rs_2128231798

1 SubmittersRCV001377956

NM_138694.4(PKHD1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:52084932

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441158

rs_2128246846

1 SubmittersRCV001377569

NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter)

SNV
Germline

Chr6:51632664

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420255

rs_1409782065

1 SubmittersRCV001390659

NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter)

SNV
Germline

Chr6:51638952

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364422037

rs_1215290114

3 SubmittersRCV001385038 RCV003469711

NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter)

SNV
Germline

Chr6:51659565

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364434044

rs_2150415240

1 SubmittersRCV001387380

NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter)

SNV
Germline

Chr6:51744407

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364418070

rs_2150962096

2 SubmittersRCV001390998 RCV005040271

NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter)

SNV
Germline

Chr6:51748636

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364424358

rs_2150987482

1 SubmittersRCV001382195

NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)

SNV
Germline

Chr6:51753288

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364426978

rs_1229564017

4 SubmittersRCV001386809 RCV002471106

NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter)

SNV
Germline

Chr6:51830968

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364423911

rs_2151512212

2 SubmittersRCV001381569 RCV003469662

NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter)

SNV
Germline

Chr6:51836449

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364426098

rs_2151549840

1 SubmittersRCV001385597

NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter)

SNV
Germline

Chr6:52010365

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364422762

rs_2128117147

2 SubmittersRCV001383342

NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys)

SNV
Germline

Chr6:52042966

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA364442129

rs_2128182593

2 SubmittersRCV001384608 RCV003492252

NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter)

SNV
Germline

Chr6:52053224

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364444498

rs_2128203862

2 SubmittersRCV001390455 RCV002493935

NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr6:52072170

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364435362

rs_2128231908

2 SubmittersRCV001382258 RCV002504639

NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter)

SNV
Germline

Chr6:52073506

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364436195

rs_1210505160

1 SubmittersRCV001389535

NM_138694.4(PKHD1):c.5838C>A (p.Val1946=)

SNV
Germline

Chr6:51959940

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3852414

rs_769415024

2 SubmittersRCV001415253 RCV005432704

NM_138694.4(PKHD1):c.5777G>A (p.Arg1926Gln)

SNV
Germline

Chr6:51960001

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3852423

rs_199598712

2 SubmittersRCV001406849 RCV004793481

NM_138694.4(PKHD1):c.3511C>G (p.Leu1171Val)

SNV
Germline

Chr6:52028205

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852922

rs_554000894

2 SubmittersRCV001401139 RCV002552730

NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu)

SNV
Germline

Chr6:52025799

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852797

rs_760893545

3 SubmittersRCV001424675 RCV002555126

NM_138694.4(PKHD1):c.7285G>A (p.Val2429Ile)

SNV
Germline

Chr6:51883158

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3851982

rs_148284341

3 SubmittersRCV001463421 RCV005038232 RCV005385104

NM_138694.4(PKHD1):c.5218G>A (p.Ala1740Thr)

SNV
Germline

Chr6:52024592

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852590

rs_762972952

2 SubmittersRCV001462996 RCV002560381

NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg)

SNV
Germline

Chr6:52056748

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3853494

rs_145163993

4 SubmittersRCV001470961 RCV002561952 RCV005038234 RCV003481110

NM_138694.4(PKHD1):c.1425C>T (p.Asn475=)

SNV
Germline

Chr6:52058410

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853562

rs_200745148

3 SubmittersRCV001451992 RCV003326575 RCV005038227

NM_138694.4(PKHD1):c.6710G>A (p.Arg2237Lys)

SNV
Germline

Chr6:51906313

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852193

rs_144673879

2 SubmittersRCV001487484 RCV002562714

NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)

SNV
Germline

Chr6:51659089

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450612690

rs_1204544455

2 SubmittersRCV001579051 RCV003771758

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_138694.4(PKHD1):c.7658A>G (p.Asn2553Ser)

SNV
Germline

Chr6:51867938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851880

rs_576001667

3 SubmittersRCV001774405 RCV002074018 RCV005038302

NM_138694.4(PKHD1):c.8554+1G>A

SNV
Germline

Chr6:51775807

Pathogenic/Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364437619

rs_1790925351

4 SubmittersRCV001784844 RCV002544253

NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)

SNV
Germline

Chr6:52024817

Pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364430209

rs_2128141956

2 SubmittersRCV001784845 RCV001885167

NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter)

SNV
Germline

Chr6:52043102

Pathogenic/Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364442420

rs_773136605

2 SubmittersRCV001782639 RCV002544268

NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys)

SNV
Germline

Chr6:51627045

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850721

rs_151198392

3 SubmittersRCV001794671 RCV002074119 RCV003931336

NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)

SNV
Germline

Chr6:51883179

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3851987

rs_201881567

3 SubmittersRCV004699625 RCV002492293 RCV002015121

NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe)

SNV
Germline

Chr6:52025518

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364434264

rs_753307105

1 SubmittersRCV001979670

NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter)

SNV
Germline

Chr6:51748027

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364420743

rs_2150982651

2 SubmittersRCV001923013 RCV005031873

NM_138694.4(PKHD1):c.11507-1G>A

SNV
Germline

Chr6:51632724

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420490

rs_2150304734

1 SubmittersRCV002019008

NM_138694.4(PKHD1):c.1694-1G>C

SNV
Germline

Chr6:52055730

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364424845

rs_398124477

1 SubmittersRCV001993682

NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter)

SNV
Germline

Chr6:51659150

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364430825

rs_1562040106

1 SubmittersRCV001941681

NM_138694.4(PKHD1):c.7912-1G>C

SNV
Germline

Chr6:51847971

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429630

rs_1160209891

1 SubmittersRCV001941791

NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter)

SNV
Germline

Chr6:51911953

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364439017

rs_2127664665

1 SubmittersRCV001950797

NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter)

SNV
Germline

Chr6:52079953

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364439603

rs_2128240429

1 SubmittersRCV001935706

NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter)

SNV
Germline

Chr6:51934236

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364417830

rs_2127768828

1 SubmittersRCV001982499

NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter)

SNV
Germline

Chr6:51904012

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA3852154

rs_758404336

1 SubmittersRCV001905031

NM_138694.4(PKHD1):c.8069G>T (p.Trp2690Leu)

SNV
Germline

Chr6:51847813

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3851759

rs_768660365

3 SubmittersRCV002033181 RCV004749748 RCV004782798

NM_138694.4(PKHD1):c.2141-1G>A

SNV
Germline

Chr6:52050296

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443954

rs_2128197058

1 SubmittersRCV002011200

NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser)

SNV
Germline

Chr6:51934272

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA364417904

rs_375949362

2 SubmittersRCV001976134 RCV004956041

NM_138694.4(PKHD1):c.3365-3C>T

SNV
Germline

Chr6:52028354

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
not specified

Criteria Provided
Conflicting Classifications

CA2573140952

rs_2128153381

3 SubmittersRCV002006205 RCV003464361 RCV005419300

NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)

SNV
Germline

Chr6:52048555

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3853247

rs_371928571

3 SubmittersRCV001960120 RCV002484648

NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu)

SNV
Germline

Chr6:51791250

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441291

rs_2151261317

1 SubmittersRCV001977086

NM_138694.4(PKHD1):c.3098-1G>A

SNV
Germline

Chr6:52035722

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441892

rs_2128169165

1 SubmittersRCV002001331

NM_138694.4(PKHD1):c.10157-1G>T

SNV
Germline

Chr6:51659970

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437715

rs_2150418842

1 SubmittersRCV002027401

NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter)

SNV
Germline

Chr6:51748397

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364422790

rs_761075492

1 SubmittersRCV002037844

NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter)

SNV
Germline

Chr6:51754799

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364427930

rs_2151020303

1 SubmittersRCV001994761

NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter)

SNV
Germline

Chr6:52017508

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425681

rs_1800728912

1 SubmittersRCV002035240

NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)

SNV
Germline

Chr6:52024972

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3852661

rs_375437755

3 SubmittersRCV002007186 RCV003464283

NM_138694.4(PKHD1):c.5381-9T>G

SNV
Germline

Chr6:52017638

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA567295851

rs_1332944383

1 SubmittersRCV002014738

NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn)

SNV
Germline

Chr6:51847970

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851784

rs_749431123

3 SubmittersRCV001876876 RCV003107870 RCV002490052

NM_138694.4(PKHD1):c.6121+1G>T

SNV
Germline

Chr6:51934109

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364417559

rs_2127767937

1 SubmittersRCV002040437

NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter)

SNV
Germline

Chr6:51638887

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364421693

rs_2150329160

2 SubmittersRCV001939596 RCV002471203

NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter)

SNV
Germline

Chr6:51885933

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364423748

rs_757590581

2 SubmittersRCV001939645 RCV003464303

NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr)

SNV
Germline

Chr6:52028333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852954

rs_78624439

4 SubmittersRCV002000742 RCV003475268 RCV003234151

NM_138694.4(PKHD1):c.11310+1G>C

SNV
Germline

Chr6:51649084

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364425650

rs_1365407882

4 SubmittersRCV002031165 RCV003408098 RCV003464400 RCV004801135

NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)

SNV
Germline

Chr6:52071009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138924757

rs_369925690

4 SubmittersRCV001864514 RCV003475134 RCV004785355

NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter)

SNV
Germline

Chr6:52065991

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364430852

rs_2128223979

1 SubmittersRCV001960527

NM_138694.4(PKHD1):c.6491-2A>G

SNV
Germline

Chr6:51909476

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435952

rs_2127653183

1 SubmittersRCV002041581

NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys)

SNV
Germline

Chr6:52053248

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364444600

rs_1209068432

1 SubmittersRCV001879271

NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly)

SNV
Germline

Chr6:51748155

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA364421012

rs_1477456222

4 SubmittersRCV001953441 RCV004690199 RCV005032011 RCV003893017

NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter)

SNV
Germline

Chr6:51868082

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851906

rs_769645972

3 SubmittersRCV001935120 RCV002507000

NM_138694.4(PKHD1):c.1693+1G>T

SNV
Germline

Chr6:52056697

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364424854

rs_2128209217

2 SubmittersRCV001995839 RCV003464357

NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)

SNV
Germline

Chr6:51748152

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138896240

rs_957419550

4 SubmittersRCV002033050 RCV003470946 RCV003154203

NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg)

SNV
Germline

Chr6:51747951

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3851354

rs_777989032

3 SubmittersRCV001952938 RCV005042569 RCV004043179

NM_138694.4(PKHD1):c.779-2A>G

SNV
Germline

Chr6:52066079

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364431338

rs_2128224166

1 SubmittersRCV002019355

NM_138694.4(PKHD1):c.9460G>A (p.Asp3154Asn)

SNV
Germline

Chr6:51748156

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364421016

rs_2150983772

1 SubmittersRCV001878117

NM_138694.4(PKHD1):c.8797+1G>A

SNV
Germline

Chr6:51754783

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364427886

rs_2151020151

1 SubmittersRCV002005937

NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)

SNV
Germline

Chr6:51775844

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851607

rs_200432861

2 SubmittersRCV002035133 RCV002489923

NM_138694.4(PKHD1):c.106A>G (p.Thr36Ala)

SNV
Germline

Chr6:52083202

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364440930

rs_758858303

1 SubmittersRCV002020866

NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter)

SNV
Germline

Chr6:52053157

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364444239

rs_2128203606

1 SubmittersRCV002047463

NM_138694.4(PKHD1):c.9999-1G>A

SNV
Germline

Chr6:51744543

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364418776

rs_2150963039

2 SubmittersRCV001999422 RCV003492721

NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter)

SNV
Germline

Chr6:52053249

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364444608

rs_2128203970

1 SubmittersRCV001891180

NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)

SNV
Germline

Chr6:51830955

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364423814

rs_2151512054

2 SubmittersRCV001892922 RCV002478273

NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn)

SNV
Germline

Chr6:52053109

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364444066

rs_2128203385

3 SubmittersRCV001949634 RCV004571747 RCV004785416

NM_138694.4(PKHD1):c.2821+2T>C

SNV
Germline

Chr6:52043623

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364442498

rs_1394431107

2 SubmittersRCV002003770 RCV003471232

NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter)

SNV
Germline

Chr6:51870595

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364419696

rs_1231660958

2 SubmittersRCV001863701 RCV005038371

NM_138694.4(PKHD1):c.11174+2T>C

SNV
Germline

Chr6:51658950

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364429623

rs_2150410774

2 SubmittersRCV001977315 RCV005603753

NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter)

SNV
Germline

Chr6:52022859

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364427610

rs_2128138552

1 SubmittersRCV001955055

NM_138694.4(PKHD1):c.3366C>T (p.Gly1122=)

SNV
Germline

Chr6:52028350

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3852962

rs_145979687

3 SubmittersRCV001866938 RCV003968597 RCV005361764

NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter)

SNV
Germline

Chr6:51870517

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364419356

rs_2151777194

2 SubmittersRCV001916469 RCV005038496

NM_138694.4(PKHD1):c.1187G>A (p.Ser396Asn)

SNV
Germline

Chr6:52059974

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853627

rs_772507975

4 SubmittersRCV002085212 RCV003418368 RCV004045708 RCV005032155

NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr)

SNV
Germline

Chr6:52050161

Conflicting classifications of pathogenicity

PKHD1-related disorder
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853287

rs_550730673

3 SubmittersRCV003408133 RCV002127545 RCV005042731

NM_138694.4(PKHD1):c.10153G>A (p.Ala3385Thr)

SNV
Germline

Chr6:51744388

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851240

rs_200762675

2 SubmittersRCV005032171 RCV002101740

NM_138694.4(PKHD1):c.3342C>T (p.Ser1114=)

SNV
Germline

Chr6:52033052

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA450419862

rs_2128163307

2 SubmittersRCV002192357 RCV004794576

NM_138694.4(PKHD1):c.11870G>A (p.Arg3957His)

SNV
Germline

Chr6:51619436

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3850670

rs_372357820

3 SubmittersRCV002098743 RCV005042725

NM_138694.4(PKHD1):c.4558G>A (p.Val1520Met)

SNV
Germline

Chr6:52025252

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852700

rs_201858937

5 SubmittersRCV002146475 RCV003916325 RCV005042744 RCV004729097

NM_138694.4(PKHD1):c.4039G>A (p.Val1347Met)

SNV
Germline

Chr6:52025771

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified
PKHD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3852790

rs_201087689

4 SubmittersRCV002104043 RCV002282689 RCV004749855 RCV003443007

NM_138694.4(PKHD1):c.8797+20G>T

SNV
Germline

Chr6:51754764

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851530

rs_766264473

2 SubmittersRCV002131626 RCV005042743

NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)

SNV
Germline

Chr6:51659945

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA364437544

rs_1772559884

2 SubmittersRCV002238677 RCV003611571

NM_001037160.3(CYS1):c.318+5G>A

SNV
Germline

Chr2:10079901

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA754159877

rs_1201981092

1 SubmittersRCV002260544

NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)

SNV
Germline

Chr6:52025645

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA364435407

rs_2128144732

2 SubmittersRCV002266158 RCV003502614

NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)

SNV
Germline

Chr6:51847918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851778

rs_748196998

5 SubmittersRCV002273390 RCV003096155 RCV003235695 RCV003471302

NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)

SNV
Germline

Chr6:52072156

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364435187

rs_2128231878

2 SubmittersRCV002282947

NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)

SNV
Germline

Chr6:51748084

Likely pathogenic

See cases
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364420855

rs_2533812777

3 SubmittersRCV004584511 RCV003502617

NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)

SNV
Germline

Chr6:52058563

Pathogenic/Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364427180

rs_1230558010

2 SubmittersRCV002308131 RCV003099151

NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)

SNV
Germline

Chr6:52043676

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364442614

rs_1421561848

4 SubmittersRCV002464897 RCV002471293 RCV005608717

NM_138694.4(PKHD1):c.977-2A>G

SNV
Germline

Chr6:52062662

Pathogenic/Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364428992

rs_2533444880

4 SubmittersRCV002471641 RCV005098452

NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)

SNV
Germline

Chr16:2103412

Pathogenic

Polycystic kidney disease, adult type
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394362570

rs_2544742591

3 SubmittersRCV002471880 RCV005406474

NM_138694.4(PKHD1):c.10074T>C (p.Asp3358=)

SNV
Germline

Chr6:51744467

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450412032

rs_1332327354

2 SubmittersRCV002474094 RCV002571507

NM_138694.4(PKHD1):c.10180T>C (p.Cys3394Arg)

SNV
Germline

Chr6:51659946

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437554

rs_2533458266

1 SubmittersRCV003060047

NM_138694.4(PKHD1):c.6996+4A>T

SNV
Germline

Chr6:51903593

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3852106

rs_781173081

3 SubmittersRCV003037166 RCV004572719

NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter)

SNV
Germline

Chr6:51911817

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437969

rs_1436270991

1 SubmittersRCV003037168

NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)

SNV
Germline

Chr6:52024735

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364428801

rs_1801882025

1 SubmittersRCV003060049

NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr)

SNV
Germline

Chr6:52025395

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364433343

rs_1375859861

1 SubmittersRCV003060050

NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)

SNV
Germline

Chr6:52042867

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
not specified
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA364441921

rs_777976050

3 SubmittersRCV004572720 RCV005239610 RCV003060052

NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)

SNV
Germline

Chr6:52058417

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364426503

rs_2533368902

1 SubmittersRCV003037170

NM_138694.4(PKHD1):c.51A>G (p.Ala17=)

SNV
Germline

Chr6:52084883

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA450421935

rs_2533801001

2 SubmittersRCV003037172

NM_138694.4(PKHD1):c.9473T>C (p.Met3158Thr)

SNV
Germline

Chr6:51748143

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420986

rs_2533814675

1 SubmittersRCV003052854

NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu)

SNV
Germline

Chr6:51906229

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364432359

rs_1554300376

1 SubmittersRCV003058903

NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)

SNV
Germline

Chr6:51847888

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA364429237

rs_1314759488

4 SubmittersRCV003079067 RCV003459737 RCV004750262

NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)

SNV
Germline

Chr6:52025128

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364431885

rs_150032027

2 SubmittersRCV003078059 RCV004572753

NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr6:52058421

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364426537

rs_1200570964

2 SubmittersRCV002595155

NM_138694.4(PKHD1):c.4410C>T (p.Ser1470=)

SNV
Germline

Chr6:52025400

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852725

rs_755526540

3 SubmittersRCV002610866 RCV005242310 RCV005356289

NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala)

SNV
Germline

Chr6:52024925

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852647

rs_776661077

2 SubmittersRCV002612293 RCV002612292

NM_138694.4(PKHD1):c.603-16T>A

SNV
Germline

Chr6:52071086

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853847

rs_562978382

2 SubmittersRCV002651080 RCV005034797

NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)

SNV
Germline

Chr6:51659738

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435908

rs_1772516071

1 SubmittersRCV002510371

NM_138694.4(PKHD1):c.11285C>T (p.Pro3762Leu)

SNV
Germline

Chr6:51649110

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425839

rs_2533303930

1 SubmittersRCV003110775

NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)

SNV
Germline

Chr6:51753280

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA364426932

rs_1453006216

2 SubmittersRCV003108653 RCV005047406

NM_138694.4(PKHD1):c.8642+19T>G

SNV
Germline

Chr6:51772683

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA567288748

rs_1271940495

2 SubmittersRCV002625444 RCV005032339

NM_138694.4(PKHD1):c.10883C>G (p.Thr3628Ser)

SNV
Germline

Chr6:51659243

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3850997

rs_147700643

3 SubmittersRCV002614364 RCV005382439 RCV005032355

NM_138694.4(PKHD1):c.6865+1G>A

SNV
Germline

Chr6:51903985

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3852150

rs_372573190

2 SubmittersRCV002622848 RCV003464576

NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)

SNV
Germline

Chr6:51791324

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364416499

rs_1295577366

2 SubmittersRCV002618656 RCV003465802

NM_138694.4(PKHD1):c.8963T>A (p.Leu2988His)

SNV
Germline

Chr6:51748653

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364424463

rs_2533834965

1 SubmittersRCV002609576

NM_138694.4(PKHD1):c.6761T>G (p.Val2254Gly)

SNV
Germline

Chr6:51906262

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364432593

rs_2536571512

1 SubmittersRCV002685450

NM_138694.4(PKHD1):c.6793C>T (p.His2265Tyr)

SNV
Germline

Chr6:51906230

Likely pathogenic

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Single Submitter

CA3852180

rs_773880430

2 SubmittersRCV002681033 RCV004749942

NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)

SNV
Germline

Chr6:52024735

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364428800

rs_1801882025

1 SubmittersRCV002663039

NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)

SNV
Germline

Chr6:52035662

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364441772

rs_1322231013

2 SubmittersRCV002735109 RCV005044949

NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)

SNV
Germline

Chr6:51830957

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364423839

rs_764880309

1 SubmittersRCV002685952

NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)

SNV
Germline

Chr6:52027880

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364440115

rs_2532778455

3 SubmittersRCV002695905 RCV003464587

NM_138694.4(PKHD1):c.1481G>A (p.Arg494Gln)

SNV
Germline

Chr6:52058354

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853551

rs_151070471

2 SubmittersRCV002741053 RCV005034395

NM_138694.4(PKHD1):c.2592+1G>T

SNV
Germline

Chr6:52046003

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443009

rs_758812102

2 SubmittersRCV002801604

NM_138694.4(PKHD1):c.11175-2A>G

SNV
Germline

Chr6:51649222

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364426720

rs_2533306617

1 SubmittersRCV002846741

NM_138694.4(PKHD1):c.8555-1G>A

SNV
Germline

Chr6:51772790

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435813

rs_1191618494

1 SubmittersRCV002839133

NM_138694.4(PKHD1):c.8069G>C (p.Trp2690Ser)

SNV
Germline

Chr6:51847813

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429087

rs_768660365

1 SubmittersRCV002825635

NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter)

SNV
Germline

Chr6:51659597

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364434331

rs_2533446785

1 SubmittersRCV002881458

NM_138694.4(PKHD1):c.9187A>T (p.Asn3063Tyr)

SNV
Germline

Chr6:51748429

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364423103

rs_2533826606

1 SubmittersRCV002866084

NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter)

SNV
Germline

Chr6:52076276

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437734

rs_2533664820

1 SubmittersRCV002871760

NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)

SNV
Germline

Chr6:51912488

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364439787

rs_2536682304

2 SubmittersRCV002867520 RCV003465857

NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)

SNV
Germline

Chr6:51959995

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364421715

rs_1208103544

2 SubmittersRCV002881971 RCV003464632

NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter)

SNV
Germline

Chr6:51772782

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435732

rs_1245635020

1 SubmittersRCV002918774

NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter)

SNV
Germline

Chr6:52017489

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425618

rs_913487671

2 SubmittersRCV002962614

NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter)

SNV
Germline

Chr6:51659232

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364431406

rs_2533437015

2 SubmittersRCV002953655

NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)

SNV
Germline

Chr6:51747837

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420153

rs_2533802259

1 SubmittersRCV002953418

NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter)

SNV
Germline

Chr6:52046041

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443096

rs_2533120316

1 SubmittersRCV002993720

NM_138694.4(PKHD1):c.5236+2T>C

SNV
Germline

Chr6:52024572

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364427983

rs_2532683467

1 SubmittersRCV003016483

NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter)

SNV
Germline

Chr6:52084887

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441064

rs_2533801165

1 SubmittersRCV003009984

NM_138694.4(PKHD1):c.7215+1G>T

SNV
Germline

Chr6:51885866

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364423012

rs_866054011

3 SubmittersRCV003019174 RCV003334405

NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)

SNV
Germline

Chr6:52045042

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364442905

rs_886042298

1 SubmittersRCV003019176

NM_138694.4(PKHD1):c.1602+2T>C

SNV
Germline

Chr6:52056888

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364425051

rs_1479728870

2 SubmittersRCV003022110 RCV005034586

NM_138694.4(PKHD1):c.1964+2T>C

SNV
Germline

Chr6:52054036

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364422497

rs_1453646167

2 SubmittersRCV003026974 RCV003459708

NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)

SNV
Germline

Chr6:52053096

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364444010

rs_2128203303

1 SubmittersRCV003037968

NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter)

SNV
Germline

Chr6:51847932

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429366

rs_2535688736

1 SubmittersRCV003017354

NM_138694.4(PKHD1):c.449-1G>A

SNV
Germline

Chr6:52073542

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364436435

rs_2533630386

1 SubmittersRCV003027873

NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)

SNV
Germline

Chr6:51747836

Pathogenic

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Single Submitter

CA364420150

rs_2533802211

2 SubmittersRCV003049931 RCV003898708

NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter)

SNV
Germline

Chr6:52079960

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364439632

rs_2128240446

1 SubmittersRCV003036527

NM_138694.4(PKHD1):c.1693+2T>C

SNV
Germline

Chr6:52056696

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364424850

rs_1581999471

2 SubmittersRCV003050003 RCV003465914

NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)

SNV
Germline

Chr6:51909336

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA364434377

rs_2536622190

2 SubmittersRCV003109896 RCV003502691

NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)

SNV
Germline

Chr6:51934115

Conflicting classifications of pathogenicity

not specified
Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852351

rs_777228780

4 SubmittersRCV003123546 RCV003459782 RCV003502692

NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)

SNV
Germline

Chr6:52042896

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853058

rs_573985690

3 SubmittersRCV003134941 RCV003611628 RCV004725651

NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)

SNV
Germline

Chr6:52024636

Pathogenic/Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3852596

rs_761046498

4 SubmittersRCV003152985 RCV003611631

NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)

SNV
Germline

Chr6:52072144

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364435025

rs_1397593913

1 SubmittersRCV003226883

NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)

SNV
Germline

Chr6:52022845

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364427562

rs_1801599945

1 SubmittersRCV003236329

NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)

SNV
Germline

Chr6:51885877

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA138899562

rs_934488030

2 SubmittersRCV003611635 RCV003236330

NM_001009944.3(PKD1):c.8350C>T (p.Gln2784Ter)

SNV
Germline

Chr16:2103707

Pathogenic

Condition: not provided
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Multiple Submitters
No Conflicts

CA394364475

rs_2544745346

2 SubmittersRCV003318794 RCV005406662

NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)

SNV
Germline

Chr6:52035617

Pathogenic

PKHD1-related disorder
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364441676

rs_2532923398

2 SubmittersRCV003397560 RCV003611645

NM_138694.4(PKHD1):c.6332+1G>A

SNV
Germline

Chr6:51912365

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA138910805

rs_1042247087

2 SubmittersRCV003611654 RCV003472458

NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)

SNV
Germline

Chr6:52059962

Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364427446

rs_1808425655

2 SubmittersRCV003471677 RCV003502739

NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)

SNV
Germline

Chr6:52010436

Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3852460

rs_202016058

2 SubmittersRCV003471679 RCV003502740

NM_138694.4(PKHD1):c.5380+1G>C

SNV
Germline

Chr6:52022800

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364427390

rs_1354626305

2 SubmittersRCV005100207 RCV003463291

NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)

SNV
Germline

Chr6:51659037

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364430118

rs_1772364866

4 SubmittersRCV003480475 RCV003611658 RCV004574053

NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter)

SNV
Germline

Chr6:52025291

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364432671

rs_780650959

1 SubmittersRCV003502922

NM_138694.4(PKHD1):c.8950+1G>A

SNV
Germline

Chr6:51753200

Likely pathogenic

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Single Submitter

CA364426302

rs_1351918391

2 SubmittersRCV003503547 RCV003901107

NM_138694.4(PKHD1):c.2715+1G>T

SNV
Germline

Chr6:52044965

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364442742

rs_1554209188

1 SubmittersRCV003503631

NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter)

SNV
Germline

Chr6:52043650

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364442559

rs_2533065197

1 SubmittersRCV003503654

NM_138694.4(PKHD1):c.932C>T (p.Thr311Ile)

SNV
Germline

Chr6:52064999

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429522

rs_2533478138

1 SubmittersRCV003503740

NM_138694.4(PKHD1):c.5679G>A (p.Glu1893=)

SNV
Germline

Chr6:52010381

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA450417400

rs_2538114522

2 SubmittersRCV003504479 RCV005235720

NM_138694.4(PKHD1):c.2821+14C>G

SNV
Germline

Chr6:52043611

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA138962433

rs_897816449

2 SubmittersRCV003502199 RCV005036896

NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr6:52050290

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443941

rs_761463388

1 SubmittersRCV003502071

NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter)

SNV
Germline

Chr6:51791267

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441371

rs_1036002703

1 SubmittersRCV003504536

NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg)

SNV
Germline

Chr6:51847918

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429304

rs_748196998

1 SubmittersRCV003504537

NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)

SNV
Germline

Chr6:52025962

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437336

rs_2532734547

1 SubmittersRCV003504538

NM_138694.4(PKHD1):c.2542T>A (p.Trp848Arg)

SNV
Germline

Chr6:52046054

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364443126

rs_1466595320

1 SubmittersRCV003504539

NM_138694.4(PKHD1):c.2280-1G>A

SNV
Germline

Chr6:52048620

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA138966531

rs_1010327160

1 SubmittersRCV003504540

NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)

SNV
Germline

Chr6:52060001

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA364427632

rs_2533402360

2 SubmittersRCV003504541 RCV005407187

NM_138694.4(PKHD1):c.53-3C>A

SNV
Germline

Chr6:52083258

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA567298519

rs_1021843705

1 SubmittersRCV003504542

NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter)

SNV
Germline

Chr6:51748064

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420817

rs_2533812064

1 SubmittersRCV003503065

NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter)

SNV
Germline

Chr6:52025995

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437559

rs_2128146216

1 SubmittersRCV003502393

NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter)

SNV
Germline

Chr6:51619485

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364417468

rs_764216969

1 SubmittersRCV003503051

NM_138694.4(PKHD1):c.7963C>A (p.His2655Asn)

SNV
Germline

Chr6:51847919

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429308

rs_2535688296

1 SubmittersRCV003502418

NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)

SNV
Germline

Chr6:52056770

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425002

rs_2533337576

1 SubmittersRCV003503044

NM_138694.4(PKHD1):c.6866-1G>T

SNV
Germline

Chr6:51903728

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364430260

rs_1781631365

1 SubmittersRCV003503172

NM_138694.4(PKHD1):c.11507-2A>T

SNV
Germline

Chr6:51632725

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420495

rs_2533096592

1 SubmittersRCV003502452

NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter)

SNV
Germline

Chr6:52025852

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364436737

rs_2532729988

1 SubmittersRCV003502461

NM_138694.4(PKHD1):c.7350+2T>A

SNV
Germline

Chr6:51883091

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364421772

rs_2536177478

1 SubmittersRCV003503306

NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter)

SNV
Germline

Chr6:52058479

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364426854

rs_1007001451

1 SubmittersRCV003503437

NM_138694.4(PKHD1):c.5752-1G>C

SNV
Germline

Chr6:51960027

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364421884

rs_2537382687

1 SubmittersRCV003504071

NM_138694.4(PKHD1):c.847T>A (p.Phe283Ile)

SNV
Germline

Chr6:52066009

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364430981

rs_375145340

1 SubmittersRCV003503412

NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)

SNV
Germline

Chr6:51659898

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364437154

rs_746976599

1 SubmittersRCV003611728

NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)

SNV
Germline

Chr6:51959909

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA138922754

rs_200929620

2 SubmittersRCV003611729 RCV004796835

NM_138694.4(PKHD1):c.281+1G>T

SNV
Germline

Chr6:52082391

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364440158

rs_1582154630

1 SubmittersRCV003611981

NM_138694.4(PKHD1):c.10058T>A (p.Leu3353His)

SNV
Germline

Chr6:51744483

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364418433

rs_777377414

1 SubmittersRCV003612509

NM_138694.4(PKHD1):c.6866-2A>T

SNV
Germline

Chr6:51903729

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA3852136

rs_775684274

1 SubmittersRCV003612587

NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter)

SNV
Germline

Chr6:51934230

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364417820

rs_200599637

1 SubmittersRCV003612716

NM_138694.4(PKHD1):c.2855G>A (p.Gly952Glu)

SNV
Germline

Chr6:52043101

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364442419

rs_2533050685

2 SubmittersRCV003612863

NM_138694.4(PKHD1):c.3229-1G>A

SNV
Germline

Chr6:52033166

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364441606

rs_2532875684

1 SubmittersRCV003612882

NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter)

SNV
Germline

Chr6:52027829

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364440004

rs_2532776122

1 SubmittersRCV003612778

NM_138694.4(PKHD1):c.4293T>G (p.Cys1431Trp)

SNV
Germline

Chr6:52025517

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364434252

rs_2532717700

1 SubmittersRCV003613202

NM_138694.4(PKHD1):c.1513-1G>A

SNV
Germline

Chr6:52056980

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425410

rs_2533343847

1 SubmittersRCV003613064

NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)

SNV
Germline

Chr6:51887219

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364424628

rs_2536253868

1 SubmittersRCV003613053

NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter)

SNV
Germline

Chr6:51632617

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420075

rs_2533093693

1 SubmittersRCV003613259

NM_138694.4(PKHD1):c.8798-15C>A

SNV
Germline

Chr6:51753368

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3851517

rs_573525939

2 SubmittersRCV003613397 RCV005047768

NM_138694.4(PKHD1):c.9998+1G>A

SNV
Germline

Chr6:51746720

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364419179

rs_1554217691

1 SubmittersRCV003613400

NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe)

SNV
Germline

Chr6:52024972

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364431089

rs_375437755

1 SubmittersRCV003613470

NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter)

SNV
Germline

Chr6:51747881

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420374

rs_1209773827

1 SubmittersRCV003613474

NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)

SNV
Germline

Chr6:51659189

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364431102

rs_2533435674

2 SubmittersRCV003613508 RCV004573200

NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter)

SNV
Germline

Chr6:51885944

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364423822

rs_2536226951

1 SubmittersRCV003611001

NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter)

SNV
Germline

Chr6:51909373

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA364434741

rs_1414358425

2 SubmittersRCV003613477 RCV004573192

NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)

SNV
Germline

Chr6:52054156

Likely pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3853412

rs_769867380

2 SubmittersRCV003611356 RCV005429453

NM_138694.4(PKHD1):c.8174-2A>G

SNV
Germline

Chr6:51830991

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364424051

rs_1582925274

1 SubmittersRCV003612156

NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg)

SNV
Germline

Chr6:52024750

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364428872

rs_794727566

1 SubmittersRCV003612147

NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter)

SNV
Germline

Chr6:52025533

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364434402

rs_771702541

1 SubmittersRCV003612412

NM_138694.4(PKHD1):c.8068T>G (p.Trp2690Gly)

SNV
Germline

Chr6:51847814

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364429089

rs_886061616

1 SubmittersRCV003612339

NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter)

SNV
Germline

Chr6:52017425

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425402

rs_147933501

1 SubmittersRCV003822303

NM_138694.4(PKHD1):c.7602A>G (p.Lys2534=)

SNV
Germline

Chr6:51867994

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA450614214

rs_2535976521

2 SubmittersRCV005038531 RCV003811537

NM_138694.4(PKHD1):c.779-1G>A

SNV
Germline

Chr6:52066078

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364431327

rs_2533509237

1 SubmittersRCV003840027

NM_138694.4(PKHD1):c.3098-2A>T

SNV
Germline

Chr6:52035723

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA138955153

rs_1013567047

1 SubmittersRCV003853463

NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter)

SNV
Germline

Chr6:52026066

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364438026

rs_2532740167

1 SubmittersRCV003866300

NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)

SNV
Germline

Chr6:51659352

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364432236

rs_1454977903

1 SubmittersRCV003874817

NM_138694.4(PKHD1):c.4220T>C (p.Leu1407Pro)

SNV
Germline

Chr6:52025590

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364434851

rs_1464962854

1 SubmittersRCV003862290

NM_138694.4(PKHD1):c.274C>A (p.Arg92=)

SNV
Germline

Chr6:52082399

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA450421786

rs_370277502

2 SubmittersRCV003875188 RCV005038602

NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)

SNV
Germline

Chr6:51747989

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364420664

rs_2533808647

1 SubmittersRCV003879766

NM_138694.4(PKHD1):c.8441-1G>A

SNV
Germline

Chr6:51775922

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364438651

rs_1484189435

1 SubmittersRCV003869882

NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)

SNV
Germline

Chr6:52017472

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA364425578

rs_373244595

1 SubmittersRCV003988485

NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val)

SNV
Germline

Chr6:51659900

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_754808508

2 SubmittersRCV004587976 RCV005038724

NM_138694.4(PKHD1):c.1836+1G>C

SNV
Germline

Chr6:52055586

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV004783403

NM_001009944.3(PKD1):c.6916-10C>A

SNV
Germline

Chr16:2108042

Conflicting classifications of pathogenicity

Polycystic kidney disease, adult type
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004795919 RCV005407351

NM_138694.4(PKHD1):c.5601-1G>A

SNV
Germline

Chr6:52010460

Pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

2 SubmittersRCV004799139 RCV005610739

NM_138694.4(PKHD1):c.1836+1G>T

SNV
Germline

Chr6:52055586

Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

2 SubmittersRCV005033406 RCV005610766

NM_138694.4(PKHD1):c.2821+1G>A

SNV
Germline

Chr6:52043624

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005082719

NM_138694.4(PKHD1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr6:52084931

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005108548

NM_138694.4(PKHD1):c.4292G>C (p.Cys1431Ser)

SNV
Germline

Chr6:52025518

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005250392 RCV005111900 RCV005257002

NM_138694.4(PKHD1):c.6333-1G>C

SNV
Germline

Chr6:51911957

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005120476

NM_138694.4(PKHD1):c.5137G>T (p.Glu1713Ter)

SNV
Germline

Chr6:52024673

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005119338

NM_138694.4(PKHD1):c.2593-1G>A

SNV
Germline

Chr6:52045089

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005119350

NM_138694.4(PKHD1):c.976+2T>C

SNV
Germline

Chr6:52064953

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005116116

NM_138694.4(PKHD1):c.6788T>A (p.Leu2263Ter)

SNV
Germline

Chr6:51906235

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005141104

NM_138694.4(PKHD1):c.9991C>T (p.Gln3331Ter)

SNV
Germline

Chr6:51746728

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005159452

NM_138694.4(PKHD1):c.9765G>A (p.Trp3255Ter)

SNV
Germline

Chr6:51747851

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005200572

NM_001009944.3(PKD1):c.2900G>A (p.Trp967Ter)

SNV
Germline

Chr16:2113246

Pathogenic

PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Single Submitter

1 SubmittersRCV005407596

NM_001009944.3(PKD1):c.10051-1G>A

SNV
Germline

Chr16:2097985

Likely pathogenic

PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease

Criteria Provided
Single Submitter

1 SubmittersRCV005409421

NM_138694.4(PKHD1):c.2383C>T (p.Gln795Ter)

SNV
Germline

Chr6:52048516

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV005414359

NM_138694.4(PKHD1):c.5682T>A (p.Cys1894Ter)

SNV
Germline

Chr6:52010378

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605561

NM_138694.4(PKHD1):c.9037T>C (p.Ser3013Pro)

SNV
Germline

Chr6:51748579

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605573

NM_138694.4(PKHD1):c.52+1G>A

SNV
Germline

Chr6:52084881

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605594

NM_138694.4(PKHD1):c.130+1G>A

SNV
Germline

Chr6:52083177

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605711

NM_138694.4(PKHD1):c.8669G>A (p.Trp2890Ter)

SNV
Germline

Chr6:51754912

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005612659

NM_138694.4(PKHD1):c.130+2T>A

SNV
Germline

Chr6:52083176

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005612675

NM_138694.4(PKHD1):c.2878C>T (p.Gln960Ter)

SNV
Germline

Chr6:52043078

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605804

NM_138694.4(PKHD1):c.11175-1G>A

SNV
Germline

Chr6:51649221

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605806

NM_138694.4(PKHD1):c.6332+40A>G

SNV
Germline

Chr6:51912326

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605810

NM_138694.4(PKHD1):c.4021C>T (p.Gln1341Ter)

SNV
Germline

Chr6:52025789

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605820

NM_138694.4(PKHD1):c.5033C>A (p.Ser1678Ter)

SNV
Germline

Chr6:52024777

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605822

NM_138694.4(PKHD1):c.4092T>A (p.Tyr1364Ter)

SNV
Germline

Chr6:52025718

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005611524

NM_138694.4(PKHD1):c.7911+1G>T

SNV
Germline

Chr6:51855892

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005611542

NM_138694.4(PKHD1):c.976+2T>G

SNV
Germline

Chr6:52064953

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605442

NM_138694.4(PKHD1):c.8068T>A (p.Trp2690Arg)

SNV
Germline

Chr6:51847814

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

1 SubmittersRCV005605534