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 Periportal fibrosis Polycystic kidney disease Oligohydramnios Polycystic kidney disease Autosomal dominant polycystic liver disease Polycystic kidney disease 4 PKHD1-related disorder Inborn genetic diseases See cases	Criteria Provided Multiple Submitters No Conflicts	CA129366	rs_137852944	44 SubmittersRCV000004324 RCV000023566 RCV000082517 RCV000414898 RCV000626993 RCV000845138 RCV001535891 RCV003415647 RCV004018552 RCV004584312
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	11 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 PKHD1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253011	rs_137852947	9 SubmittersRCV000004328 RCV003137490 RCV004748496 RCV004589495
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)	SNV Germline	Chr6:51659468	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Inborn genetic diseases PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA253013	rs_137852948	6 SubmittersRCV000004329 RCV000623522 RCV003415648 RCV003460425
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	4 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	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder not specified	Criteria Provided Conflicting Classifications	CA149495	rs_201349527	5 SubmittersRCV000588326 RCV001512862 RCV003891579 RCV000082532
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	19 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	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA224064	rs_138989655	7 SubmittersRCV000306360 RCV001449949 RCV000082544
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	5 SubmittersRCV000488108 RCV001488784 RCV002513851 RCV003133132 RCV004748568
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)	SNV Germline	Chr6:52028179	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA224068	rs_141574387	8 SubmittersRCV000860578 RCV001588907 RCV000082546
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)	SNV Germline	Chr6:52025506	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA224075	rs_138242579	7 SubmittersRCV001158630 RCV001578915 RCV002513852 RCV003894941 RCV000082552
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)	SNV Germline	Chr6:52025467	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA149510	rs_116809571	10 SubmittersRCV000229420 RCV000224846 RCV000082553
NM_138694.4(PKHD1):c.5236+1G>A	SNV Germline	Chr6:52024573	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224078	rs_398124487	2 SubmittersRCV000177669 RCV000790689
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	Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA224082	rs_149553146	7 SubmittersRCV000671325 RCV003945030 RCV000082562
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)	SNV Germline	Chr6:52071040	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA224086	rs_144025892	7 SubmittersRCV000327475 RCV001449950 RCV000082566
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)	SNV Germline	Chr6:51883163	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224091	rs_398124492	4 SubmittersRCV001004196 RCV002272061 RCV000082569
NM_138694.4(PKHD1):c.7912-5T>G	SNV Germline	Chr6:51847975	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA224095	rs_371510537	10 SubmittersRCV000487822 RCV001731369 RCV003974991 RCV000206771
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	SNV Germline	Chr6:51791331	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Caroli disease Autosomal dominant polycystic liver disease PKHD1-related disorder not specified	Criteria Provided Conflicting Classifications	CA224098	rs_147222255	18 SubmittersRCV000473573 RCV000659055 RCV001507100 RCV001844807 RCV003935071 RCV000082581
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)	SNV Germline	Chr6:51791269	Pathogenic/Likely pathogenic	Condition: not provided not specified PKHD1-related disorder Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA224100	rs_398124495	8 SubmittersRCV000790666 RCV001174653 RCV003407467 RCV000179135
NM_138694.4(PKHD1):c.8408G>A (p.Cys2803Tyr)	SNV Germline	Chr6:51791268	Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224101	rs_398124496	2 SubmittersRCV001854440 RCV000179136
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	SNV Germline	Chr6:51791251	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224103	rs_398124497	6 SubmittersRCV000531951 RCV002470760 RCV003398682 RCV000082584
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/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA224108	rs_398124500	7 SubmittersRCV000790758 RCV000169555 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/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA224114	rs_398124503	9 SubmittersRCV000174804 RCV000790671 RCV004748570 RCV001580453
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	Criteria Provided Conflicting Classifications	CA234574	rs_727504088	4 SubmittersRCV000153719 RCV000765889 RCV002516089
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)	SNV Germline	Chr6:52053238	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA234582	rs_727504092	3 SubmittersRCV000153723 RCV001379301
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)	SNV Germline	Chr6:51747897	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease not specified PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA234565	rs_146649803	7 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	4 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 Polycystic kidney disease Condition: not provided Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA234563	rs_146519878	9 SubmittersRCV000153705 RCV000196023 RCV001292125 RCV001572539 RCV001844810 RCV003937433
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)	SNV Germline	Chr6:52043721	Pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA234576	rs_727504089	9 SubmittersRCV000176696 RCV000790818 RCV001781495 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 Inborn genetic diseases not specified PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA234584	rs_138968608	7 SubmittersRCV000153724 RCV001079254 RCV002516090 RCV003150954 RCV003965145
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)	SNV Germline	Chr6:52079920	Pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease See cases Abnormal intrahepatic bile duct morphology Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA234592	rs_727504096	9 SubmittersRCV000179011 RCV000796722 RCV004584358 RCV000626995 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	Criteria Provided Conflicting Classifications	CA234559	rs_78518523	11 SubmittersRCV000153701 RCV000723889 RCV001164890 RCV001810428 RCV003945211
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 Condition: not provided Abnormal intrahepatic bile duct morphology Polycystic kidney disease Polycystic kidney disease 4 Caroli disease Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA334736	rs_200391019	29 SubmittersRCV000168407 RCV000479548 RCV000626996 RCV001292108 RCV001331702 RCV001507098 RCV001844812 RCV003398859
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)	SNV Germline	Chr6:51632706	Pathogenic/Likely 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	9 SubmittersRCV000169255 RCV000726420 RCV001331692 RCV003937523
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	SNV Germline	Chr6:51748297	Pathogenic/Likely 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	8 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 Condition: not provided not specified Polycystic kidney disease	Criteria Provided Conflicting Classifications	CA203171	rs_113562492	10 SubmittersRCV000169052 RCV001527869 RCV000179159 RCV001292233
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	SNV Germline	Chr6:51847966	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease Condition: not provided Polycystic kidney disease 4 Abnormality of the genitourinary system	Criteria Provided Multiple Submitters No Conflicts	CA274412	rs_181208607	12 SubmittersRCV000169564 RCV000415427 RCV001091108 RCV001374661 RCV001814084
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 Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA274186	rs_142107837	6 SubmittersRCV000169334 RCV001843489 RCV002492692
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)	SNV Germline	Chr6:52043636	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease Renal cyst Ventricular hypertrophy Polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA274389	rs_786204707	4 SubmittersRCV000169522 RCV000415273 RCV000626994
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	Criteria Provided Multiple Submitters No Conflicts	CA274068	rs_745770404	9 SubmittersRCV000169230 RCV001283774 RCV003927564
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)	SNV Germline	Chr6:52054122	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Autosomal dominant polycystic liver disease	Criteria Provided Multiple Submitters No Conflicts	CA274375	rs_786204696	5 SubmittersRCV000169507 RCV003398869 RCV001844813
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	7 SubmittersRCV000169512 RCV003152689 RCV004748617
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)	SNV Germline	Chr6:52058355	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease Condition: not provided See cases Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA274284	rs_754392766	8 SubmittersRCV000169415 RCV000735398 RCV000725681 RCV003156078 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_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	not specified Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA242234	rs_188914598	8 SubmittersRCV000249026 RCV000724186 RCV001160100
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	8 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 Polycystic kidney disease 4 Condition: not provided Autosomal dominant polycystic liver disease	Criteria Provided Multiple Submitters No Conflicts	CA275144	rs_773136605	10 SubmittersRCV000176777 RCV001198369 RCV000724042 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 not specified PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA242990	rs_794727466	6 SubmittersRCV000176895 RCV001276778 RCV004689656 RCV004748633
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)	SNV Germline	Chr6:52033152	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA243064	rs_201123815	5 SubmittersRCV000176952 RCV002485152 RCV002517706 RCV004020100
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	6 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 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA244856	rs_150838488	11 SubmittersRCV000274741 RCV000724484 RCV001844070 RCV003947510
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)	SNV Germline	Chr6:51912453	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA202674	rs_147487242	9 SubmittersRCV000177959 RCV000354123 RCV000857781
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	not specified Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA245465	rs_141790557	8 SubmittersRCV000178381 RCV000406304 RCV001706142 RCV003927661
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	Criteria Provided Conflicting Classifications	CA275271	rs_142526715	15 SubmittersRCV000224543 RCV000765886 RCV001844816 RCV002282003 RCV003917663
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 Autosomal dominant polycystic liver disease PKHD1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245849	rs_150046042	12 SubmittersRCV000178676 RCV000806672 RCV001358740 RCV001844817 RCV003977466 RCV003352795
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	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA246375	rs_794727759	7 SubmittersRCV000790749 RCV000336528 RCV003474935
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 dominant polycystic liver disease Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA275361	rs_781368899	16 SubmittersRCV000627228 RCV000845132 RCV000844922 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	4 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 Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA246986	rs_143616240	11 SubmittersRCV000179675 RCV000589131 RCV000674658 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 Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA338262	rs_199900211	8 SubmittersRCV000198885 RCV000730606 RCV003129804 RCV003967536
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)	SNV Germline	Chr6:51648091	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA337383	rs_41273722	9 SubmittersRCV000251856 RCV001162836 RCV001545553 RCV003891772
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	Criteria Provided Conflicting Classifications	CA337220	rs_150925674	13 SubmittersRCV000197457 RCV000254142 RCV000590788
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 Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853086	rs_139815340	10 SubmittersRCV000225884 RCV000250293 RCV001706278 RCV001449647
NM_138694.4(PKHD1):c.8173+12C>T	SNV Germline	Chr6:51836392	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3851719	rs_368093611	4 SubmittersRCV000246958 RCV000357751
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	Criteria Provided Conflicting Classifications	CA3852608	rs_45517932	10 SubmittersRCV000253664 RCV000558453 RCV000987715
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 Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853298	rs_141622697	6 SubmittersRCV000254512 RCV000725680 RCV001086206 RCV003891982
NM_138694.4(PKHD1):c.130+9G>A	SNV Germline	Chr6:52083169	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3854034	rs_367608402	4 SubmittersRCV000250803 RCV001088979 RCV000727487
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 Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3854036	rs_201195801	4 SubmittersRCV000398350 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 PKHD1-related disorder Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications	CA3852958	rs_144365187	4 SubmittersRCV000311356 RCV004748688 RCV002059116
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 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852704	rs_147098776	3 SubmittersRCV000292605 RCV001454131 RCV004725139
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)	SNV Germline	Chr6:52022809	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA501106	rs_886042677	3 SubmittersRCV000365257 RCV000725304
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	Criteria Provided Conflicting Classifications	CA3851385	rs_147351244	7 SubmittersRCV000317863 RCV000392284 RCV003441833 RCV003920094
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 Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3853807	rs_748365248	5 SubmittersRCV000300283 RCV001810443 RCV000725728
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	Criteria Provided Conflicting Classifications	CA3852602	rs_141103838	12 SubmittersRCV000373143 RCV000414198 RCV001580479 RCV003391047
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	SNV Germline	Chr6:52082399	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3853985	rs_370277502	10 SubmittersRCV000337196 RCV001004221 RCV001535928 RCV003417901
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)	SNV Germline	Chr6:51909466	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852238	rs_368263958	4 SubmittersRCV000819334 RCV000350995 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 Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852983	rs_148335285	7 SubmittersRCV000337623 RCV000394496 RCV001706416 RCV003957472
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)	SNV Germline	Chr6:52025553	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3852752	rs_577832997	4 SubmittersRCV000390756 RCV001276777 RCV000725949
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	Criteria Provided Conflicting Classifications	CA3850859	rs_149427926	4 SubmittersRCV000273670 RCV001079830
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)	SNV Germline	Chr6:52025518	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3852742	rs_753307105	7 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 Autosomal recessive polycystic kidney disease not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3850972	rs_142855690	7 SubmittersRCV000356617 RCV001086169 RCV001193196 RCV001449929
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	Criteria Provided Conflicting Classifications	CA3852799	rs_373255125	6 SubmittersRCV000264443 RCV000374359 RCV002470838 RCV003949917
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	not specified Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851843	rs_200204857	8 SubmittersRCV000336713 RCV000528475 RCV001084453 RCV001844822 RCV003940059
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)	SNV Germline	Chr6:52050242	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853307	rs_201432731	9 SubmittersRCV000405708 RCV000549371 RCV001844823 RCV003910015
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	6 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 PKHD1-related disorder Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3852766	rs_139063552	7 SubmittersRCV000340674 RCV000402008 RCV004748701 RCV002502151 RCV004021291
NM_138694.4(PKHD1):c.281+3A>G	SNV Germline	Chr6:52082389	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853983	rs_79803080	6 SubmittersRCV000332244 RCV000542647 RCV001753747 RCV003910033
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	Criteria Provided Conflicting Classifications	CA3852721	rs_146745096	7 SubmittersRCV000350289 RCV000765888 RCV003409420
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	Criteria Provided Conflicting Classifications	CA3853094	rs_142205860	7 SubmittersRCV000266382 RCV000304554 RCV003417914
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 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851902	rs_200679577	6 SubmittersRCV000331367 RCV000372441 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	Criteria Provided Conflicting Classifications	CA3853837	rs_762584715	3 SubmittersRCV000310909 RCV001458615 RCV003897657
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	Criteria Provided Conflicting Classifications	CA3853345	rs_199858063	3 SubmittersRCV000345048 RCV001493846
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 not specified Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853291	rs_777183511	9 SubmittersRCV000288236 RCV000317551 RCV001844826 RCV002509355 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 Polycystic kidney disease 4 Autosomal dominant polycystic liver disease Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853487	rs_142896856	10 SubmittersRCV000361497 RCV000377159 RCV001336939 RCV001844827 RCV004021315 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.9705T>A (p.Asn3235Lys)	SNV Germline	Chr6:51747911	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA3851350	rs_759568939	8 SubmittersRCV000265753 RCV001526423 RCV004591130
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)	SNV Germline	Chr6:51748214	Conflicting classifications of pathogenicity	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications	CA3851394	rs_143737660	8 SubmittersRCV000591117 RCV001449936 RCV000372328 RCV000781720
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	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Polycystic kidney disease PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3851503	rs_760222236	11 SubmittersRCV000521323 RCV000390646 RCV002502379 RCV001292483 RCV003409556
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	8 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	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3853350	rs_746441159	4 SubmittersRCV000388330 RCV000595453
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)	SNV Germline	Chr6:52053210	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Hereditary disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3853359	rs_200497761	7 SubmittersRCV000348938 RCV001336940 RCV003418076 RCV001824136 RCV000596106
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	Criteria Provided Conflicting Classifications	CA3852254	rs_750822014	2 SubmittersRCV000404946
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)	SNV Germline	Chr6:52024698	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852614	rs_202010726	6 SubmittersRCV000733100 RCV000380232 RCV001507321 RCV003932475
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 PKHD1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3853120	rs_200511208	6 SubmittersRCV000323980 RCV000591055 RCV003932476 RCV003114511
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	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications	CA10627219	rs_886061623	5 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 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852419	rs_376709130	5 SubmittersRCV000367037 RCV000596174 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/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041022	rs_199839578	7 SubmittersRCV000411765 RCV002504202
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)	SNV Germline	Chr6:51659417	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA16041025	rs_1057516345	2 SubmittersRCV000410089
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/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041031	rs_1057516577	6 SubmittersRCV000411085 RCV000727620 RCV003463795
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)	SNV Germline	Chr6:51747933	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA16041032	rs_1057516445	3 SubmittersRCV000411250
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)	SNV Unknown	Chr6:51847832	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16041037	rs_1057516490	1 SubmittersRCV000411627
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)	SNV Germline	Chr6:51867900	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA16041041	rs_1057516751	2 SubmittersRCV000412217
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.7084C>T (p.Gln2362Ter)	SNV Unknown	Chr6:51887158	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041044	rs_1057516221	2 SubmittersRCV000410291 RCV003463786
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter)	SNV Unknown	Chr6:51903683	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16041045	rs_1057516441	1 SubmittersRCV000409558
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter)	SNV Unknown	Chr6:51909439	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16041046	rs_1057516706	1 SubmittersRCV000409143
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	4 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	6 SubmittersRCV000411938 RCV002488836
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	SNV Germline	Chr6:52017525	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Autosomal dominant polycystic liver disease	Criteria Provided Multiple Submitters No Conflicts	CA3852502	rs_774759689	6 SubmittersRCV000410933 RCV003463799 RCV001844829
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter)	SNV Unknown	Chr6:52017558	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16041050	rs_1057516692	1 SubmittersRCV000409181
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	SNV Germline	Chr6:52024928	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3852648	rs_267601070	5 SubmittersRCV000410465 RCV003463803
NM_138694.4(PKHD1):c.3561-2A>G	SNV Unknown	Chr6:52027898	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16041059	rs_1057516982	1 SubmittersRCV000410032
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.2192C>A (p.Ser731Ter)	SNV Germline	Chr6:52050244	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA16041068	rs_1057516608	2 SubmittersRCV000412139 RCV002470849
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)	SNV Germline	Chr6:52069487	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts	CA16041071	rs_1057516768	2 SubmittersRCV000411384
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.448+2T>C	SNV Unknown	Chr6:52076274	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16041073	rs_1057517270	1 SubmittersRCV000410878
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	Criteria Provided Conflicting Classifications	CA3853582	rs_149781976	14 SubmittersRCV000415990 RCV000669988 RCV001844830 RCV003922678
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	SNV Germline	Chr6:51748086	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851379	rs_200511261	10 SubmittersRCV000444254 RCV000502876 RCV001336942 RCV003418109
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	Criteria Provided Conflicting Classifications	CA3853210	rs_199531851	7 SubmittersRCV000432815 RCV001004207 RCV003152602
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)	SNV Germline	Chr6:52042976	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA3853068	rs_757854282	2 SubmittersRCV000449535
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	Criteria Provided Conflicting Classifications	CA3850617	rs_201210830	6 SubmittersRCV000457190 RCV000592520 RCV001193199 RCV003243135
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	13 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	Condition: not provided Autosomal recessive polycystic kidney disease See cases Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3853831	rs_369925690	23 SubmittersRCV000681918 RCV000467466 RCV003985354 RCV001262841 RCV003401465
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.9877G>A (p.Asp3293Asn)	SNV Germline	Chr6:51746842	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter	CA16612174	rs_1060501356	1 SubmittersRCV000476666
NM_138694.4(PKHD1):c.8555-2A>C	SNV Germline	Chr6:51772791	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA138907851	rs_1020621286	7 SubmittersRCV000492982 RCV001775124 RCV001004192 RCV003419833
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	SNV Germline	Chr6:51748320	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851414	rs_757946548	4 SubmittersRCV000498382 RCV001829415 RCV003464070
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)	SNV Germline	Chr6:51959953	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364421541	rs_1210846081	6 SubmittersRCV000500109 RCV001291854 RCV002506218
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.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	Criteria Provided Conflicting Classifications	CA3851291	rs_45627337	11 SubmittersRCV000509311 RCV000594183 RCV001844835 RCV002470891 RCV002527385 RCV004748796
NM_001377.3(DYNC2H1):c.10042+2T>G	SNV Germline	Chr11:103245376	Pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Asphyxiating thoracic dystrophy 3 Autosomal recessive polycystic kidney disease Condition: not provided Jeune thoracic dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA382246199	rs_1261505725	5 SubmittersRCV000516017 RCV001291173 RCV001328199 RCV003159657 RCV001857881
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	7 SubmittersRCV000529518 RCV000733218 RCV003476228
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)	SNV Germline	Chr6:52043635	Pathogenic	Autosomal recessive polycystic kidney disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA364442529	rs_1344820986	7 SubmittersRCV000548550 RCV003925600 RCV001535924
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 not specified Condition: not provided Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA138918438	rs_778329699	5 SubmittersRCV000545902 RCV001731754 RCV001755812 RCV002483376
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	SNV Germline	Chr6:51659952	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3851135	rs_201082169	11 SubmittersRCV000578239 RCV002470913 RCV001249102 RCV003420014
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	8 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	Criteria Provided Conflicting Classifications	CA3850796	rs_201478327	4 SubmittersRCV000586413 RCV001162834 RCV001555004
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	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3852825	rs_374233100	4 SubmittersRCV000587125 RCV001274854 RCV002483572 RCV004024688
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)	SNV Germline	Chr6:51906241	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852183	rs_146102132	5 SubmittersRCV000593640 RCV001479944 RCV003160006 RCV003915687
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)	SNV Germline	Chr6:51659267	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases not specified PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3851006	rs_149163661	9 SubmittersRCV000595376 RCV000816584 RCV002532360 RCV003151109 RCV003925761
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 Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852501	rs_201105958	12 SubmittersRCV000592600 RCV000723529 RCV003471950 RCV004748832
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)	SNV Germline	Chr6:51659124	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3850975	rs_114237522	5 SubmittersRCV000592223 RCV001086538 RCV003945382
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)	SNV Germline	Chr6:52054089	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	CA3853396	rs_181546197	6 SubmittersRCV000592067 RCV001163765 RCV003133389 RCV004024712 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 Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853301	rs_373367366	4 SubmittersRCV000597237 RCV002531000 RCV002491181
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 PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3853741	rs_375145340	5 SubmittersRCV000592287 RCV001860162 RCV003403388 RCV003465335
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	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3852860	rs_376121326	3 SubmittersRCV000591315 RCV001453690 RCV002532394
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 PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853833	rs_199897497	6 SubmittersRCV000593464 RCV001163885 RCV003935596
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)	SNV Germline	Chr6:51659772	Conflicting classifications of pathogenicity	Condition: not provided PKHD1-related disorder Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3851095	rs_562503637	5 SubmittersRCV000595378 RCV003409859 RCV001034151 RCV003989565
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	Criteria Provided Conflicting Classifications	CA3853294	rs_200654041	4 SubmittersRCV000592931 RCV001163477
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	6 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 Autosomal recessive polycystic kidney disease not specified Polycystic kidney disease Autosomal dominant polycystic liver disease	Criteria Provided Conflicting Classifications	CA3853963	rs_149841071	10 SubmittersRCV000595963 RCV000671191 RCV001290597 RCV001292159 RCV001844839
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	6 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	Criteria Provided Conflicting Classifications	CA3853302	rs_373367366	2 SubmittersRCV000596653 RCV001445253
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	7 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	Criteria Provided Conflicting Classifications	CA3851730	rs_201254195	3 SubmittersRCV000591619 RCV001455016 RCV002532508
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 Condition: not provided PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853314	rs_140608845	6 SubmittersRCV000595818 RCV000633433 RCV004760640 RCV003927935
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	PKHD1-related disorder Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications	CA3852650	rs_190396031	6 SubmittersRCV003953000 RCV000596307 RCV001088747 RCV002470925
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)	SNV Germline	Chr6:52058528	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853588	rs_146789444	6 SubmittersRCV000597573 RCV000765892 RCV004024858 RCV003927945
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)	SNV Germline	Chr6:52025976	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3852828	rs_145960781	4 SubmittersRCV000592266 RCV001084430 RCV003915738
NM_138694.4(PKHD1):c.7734-6C>A	SNV Germline	Chr6:51856076	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications	CA3851847	rs_367564272	4 SubmittersRCV000591197 RCV001088505 RCV001174777
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	Condition: not provided Autosomal recessive polycystic kidney disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3850991	rs_371329493	4 SubmittersRCV000596248 RCV001159983 RCV002532684
NM_138694.4(PKHD1):c.708-5C>T	SNV Germline	Chr6:52069532	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications	CA3853798	rs_371844893	3 SubmittersRCV000592255 RCV001428619 RCV003900360
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 Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts	CA3851440	rs_367678592	4 SubmittersRCV000624573 RCV001292490 RCV001377108 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.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	Criteria Provided Conflicting Classifications	CA3854076	rs_750588859	4 SubmittersRCV000633432 RCV001569911 RCV003432661
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	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3853636	rs_376040501	11 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		rs_144193508	8 SubmittersRCV000665966 RCV001784237 RCV002245081
NM_138694.4(PKHD1):c.11785+1G>T	SNV Germline	Chr6:51626996	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1488844530	2 SubmittersRCV000670802
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)	SNV Germline	Chr6:51748245	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_373241537	2 SubmittersRCV000666787
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)	SNV Germline	Chr6:51753258	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_770068023	3 SubmittersRCV000672675
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		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 not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications		rs_369626030	4 SubmittersRCV000670644 RCV001527048 RCV003472125
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)	SNV Germline	Chr6:52022858	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_770522674	9 SubmittersRCV000664790 RCV002507150 RCV002305527 RCV004748888
NM_138694.4(PKHD1):c.5237-2A>C	SNV Unknown	Chr6:52022946	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554197152	1 SubmittersRCV000665107
NM_138694.4(PKHD1):c.3228+1G>C	SNV Unknown	Chr6:52035590	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_868673401	1 SubmittersRCV000674183
NM_138694.4(PKHD1):c.2408-2A>G	SNV Unknown	Chr6:52046190	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554210085	1 SubmittersRCV000671299
NM_138694.4(PKHD1):c.2140+1G>C	SNV Unknown	Chr6:52053075	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554213853	1 SubmittersRCV000670308
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)	SNV Germline	Chr6:52069498	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1037991711	2 SubmittersRCV000667175
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		rs_1554227278	4 SubmittersRCV000667904 RCV000998621 RCV003465479
NM_138694.4(PKHD1):c.53-2A>G	SNV Unknown	Chr6:52083257	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554228601	1 SubmittersRCV000674953
NM_138694.4(PKHD1):c.11507-7G>A	SNV Germline	Chr6:51632730	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_373438297	3 SubmittersRCV000665010
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)	SNV Germline	Chr6:51649177	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications		rs_1554176504	3 SubmittersRCV000669544 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		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		rs_1554218666	5 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		rs_759851475	5 SubmittersRCV000671482 RCV001784270
NM_138694.4(PKHD1):c.11311-2A>G	SNV Unknown	Chr6:51648120	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554174903	1 SubmittersRCV000672028
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)	SNV Germline	Chr6:51649111	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications		rs_1229349983	3 SubmittersRCV000675040 RCV003465541
NM_138694.4(PKHD1):c.8303-2A>G	SNV Unknown	Chr6:51791375	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554243821	1 SubmittersRCV000673889
NM_138694.4(PKHD1):c.6490+1G>A	SNV Unknown	Chr6:51911798	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554133736	1 SubmittersRCV000667479
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		rs_141081295	6 SubmittersRCV000664770 RCV003129981 RCV004719925
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)	SNV Germline	Chr6:51748557	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications		rs_757148837	3 SubmittersRCV000674611 RCV004568567
NM_138694.4(PKHD1):c.8950+1G>T	SNV Unknown	Chr6:51753200	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_1351918391	2 SubmittersRCV000671633 RCV002485554
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)	SNV Germline	Chr6:52022839	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1554197025	3 SubmittersRCV000667386 RCV000733076
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)	SNV Germline	Chr6:52024681	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified Renal cyst Condition: not provided	Criteria Provided Conflicting Classifications		rs_749294509	6 SubmittersRCV000665691 RCV001293534 RCV001526534 RCV003442011
NM_138694.4(PKHD1):c.7912-1G>A	SNV Germline	Chr6:51847971	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1160209891	2 SubmittersRCV000666936
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)	SNV Germline	Chr6:51627042	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_761704401	4 SubmittersRCV000670650 RCV003459618 RCV003392511
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		rs_1554208257	3 SubmittersRCV000671833 RCV003459631
NM_138694.4(PKHD1):c.2715+1G>C	SNV Unknown	Chr6:52044965	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554209188	1 SubmittersRCV000672906
NM_138694.4(PKHD1):c.7912-2A>G	SNV Unknown	Chr6:51847972	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_1554271235	2 SubmittersRCV000672383 RCV003459637
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)	SNV Germline	Chr6:52065000	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_890884615	2 SubmittersRCV000670400
NM_138694.4(PKHD1):c.7911+19T>C	SNV Germline	Chr6:51855874	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications		rs_201017366	3 SubmittersRCV000670468 RCV000780597
NM_138694.4(PKHD1):c.603-1G>A	SNV Unknown	Chr6:52071071	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554223403	1 SubmittersRCV000672999
NM_138694.4(PKHD1):c.7486+1G>T	SNV Germline	Chr6:51870503	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554282419	2 SubmittersRCV000672762
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 not specified Polycystic kidney disease 4	Criteria Provided Conflicting Classifications		rs_777377414	5 SubmittersRCV000673683 RCV000788834 RCV003330894 RCV003459642
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)	SNV Germline	Chr6:52084923	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_1554229312	3 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	Criteria Provided Conflicting Classifications		rs_141360909	8 SubmittersRCV000665022 RCV000727569 RCV004748889
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		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		rs_1340926191	4 SubmittersRCV000670931 RCV002499176
NM_138694.4(PKHD1):c.6491-1G>A	SNV Unknown	Chr6:51909475	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554132790	1 SubmittersRCV000669810
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)	SNV Unknown	Chr6:51934238	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Conflicting Classifications		rs_1210348558	2 SubmittersRCV000668292 RCV003472098
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)	SNV Germline	Chr6:52017489	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications		rs_913487671	4 SubmittersRCV000666915 RCV003403545
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)	SNV Germline	Chr6:52017562	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554194511	3 SubmittersRCV000665876
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 Multiple Submitters No Conflicts		rs_1020621286	2 SubmittersRCV000669137 RCV004568521
NM_138694.4(PKHD1):c.8107+1G>C	SNV Unknown	Chr6:51847774	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554270880	1 SubmittersRCV000674970
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter)	SNV Germline	Chr6:52025393	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554198717	2 SubmittersRCV000671958
NM_138694.4(PKHD1):c.7350+653A>G	SNV Germline	Chr6:51882440	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_1240212722	7 SubmittersRCV000667179 RCV002272320
NM_138694.4(PKHD1):c.3228+1G>T	SNV Germline	Chr6:52035590	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_868673401	2 SubmittersRCV000666478 RCV002289952
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)	SNV Germline	Chr6:51903693	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_776060304	6 SubmittersRCV000674293 RCV001565179 RCV003472168 RCV003411585
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		rs_747895516	4 SubmittersRCV000668499 RCV003459597
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)	SNV Germline	Chr6:52043102	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_773136605	2 SubmittersRCV000664542
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	Criteria Provided Conflicting Classifications		rs_1554144226	4 SubmittersRCV000667357 RCV003442013
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		rs_758352210	5 SubmittersRCV000664559 RCV003472063
NM_138694.4(PKHD1):c.2141-2A>C	SNV Unknown	Chr6:52050297	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554212403	1 SubmittersRCV000666418
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)	SNV Germline	Chr6:52026063	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 PKHD1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_748540413	7 SubmittersRCV000667920 RCV003459590 RCV003918107 RCV003236830
NM_138694.4(PKHD1):c.3097+2T>C	SNV Unknown	Chr6:52042857	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554207834	1 SubmittersRCV000671974
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		rs_750730042	5 SubmittersRCV000666503 RCV003459579
NM_138694.4(PKHD1):c.2140+1G>T	SNV Unknown	Chr6:52053075	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554213853	1 SubmittersRCV000669011
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		rs_750730042	7 SubmittersRCV000671679 RCV002509503 RCV001784272
NM_138694.4(PKHD1):c.708-2A>C	SNV Unknown	Chr6:52069529	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_753492974	1 SubmittersRCV000672352
NM_138694.4(PKHD1):c.707+2T>C	SNV Germline	Chr6:52070404	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554222939	2 SubmittersRCV000665516
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		rs_1554219429	3 SubmittersRCV000665124 RCV004568489
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)	SNV Germline	Chr6:52065011	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1288017883	3 SubmittersRCV000667097
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		rs_754448530	3 SubmittersRCV000666991 RCV002499157
NM_138694.4(PKHD1):c.708-1G>A	SNV Unknown	Chr6:52069528	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1554222508	1 SubmittersRCV000674065
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		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		rs_1554227215	2 SubmittersRCV000677707
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		rs_764696718	5 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		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		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		rs_141093030	5 SubmittersRCV000700536 RCV001759393 RCV002485720
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		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 Inborn genetic diseases not specified PKHD1-related disorder	Criteria Provided Conflicting Classifications		rs_147612089	7 SubmittersRCV000727592 RCV000814275 RCV002535047 RCV003151141 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		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		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	Criteria Provided Conflicting Classifications		rs_771622189	3 SubmittersRCV000728325 RCV001431382 RCV003918189
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		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		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		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		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		rs_769559267	9 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		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	Criteria Provided Conflicting Classifications		rs_763499782	4 SubmittersRCV000728890 RCV001435317 RCV004026957 RCV004748926
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 Inborn genetic diseases Polycystic kidney disease 4	Criteria Provided Conflicting Classifications		rs_145141656	7 SubmittersRCV000729058 RCV001239749 RCV004026962 RCV002485863
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		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		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		rs_753648991	2 SubmittersRCV000729585 RCV001458179
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	SNV Germline	Chr6:51748509	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_893497345	8 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		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		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		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		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		rs_138464473	2 SubmittersRCV000729762 RCV001487514
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)	SNV Germline	Chr6:51659158	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1303599332	3 SubmittersRCV000729845 RCV001779069 RCV002067101
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		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		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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_200733734	4 SubmittersRCV000730746 RCV001418303 RCV003420301
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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_773123823	3 SubmittersRCV000731006 RCV002060998 RCV004800562
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		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		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		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 PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Conflicting Classifications		rs_535128714	4 SubmittersRCV000731260 RCV001087601 RCV004748938 RCV001507322
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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_372102850	4 SubmittersRCV000732167 RCV001470943 RCV003165982
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	Criteria Provided Conflicting Classifications		rs_145789167	5 SubmittersRCV000732312 RCV001160098 RCV002535265
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		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	Criteria Provided Conflicting Classifications		rs_137972270	3 SubmittersRCV000732510 RCV001158858
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		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		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		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		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		rs_1562177292	2 SubmittersRCV000733075 RCV001449132
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	SNV Germline	Chr6:51627035	Pathogenic/Likely pathogenic	Condition: not provided Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_760426769	5 SubmittersRCV000733087 RCV002485925 RCV001004184 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		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 Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications		rs_138672830	5 SubmittersRCV000733367 RCV001088603 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		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	Criteria Provided Conflicting Classifications		rs_201611688	5 SubmittersRCV000733515 RCV000863592 RCV003938122
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		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 PKHD1-related disorder	Criteria Provided Conflicting Classifications		rs_151160618	5 SubmittersRCV000734169 RCV001475419 RCV002535370 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		rs_142678486	3 SubmittersRCV000734196 RCV001465273 RCV003918225
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)	SNV Germline	Chr6:51748271	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease PKHD1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_760710708	5 SubmittersRCV001089295 RCV003928247 RCV000734373
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		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		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		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		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		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		rs_376881116	3 SubmittersRCV000734593 RCV001455470
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)	SNV Germline	Chr6:52062654	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 not specified	Criteria Provided Conflicting Classifications		rs_770494581	5 SubmittersRCV001004214 RCV000734720 RCV001332901 RCV003489848
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	Criteria Provided Conflicting Classifications		rs_113402912	2 SubmittersRCV000734723 RCV001419871
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		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		rs_759156564	2 SubmittersRCV000734939 RCV001427804
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)	SNV Germline	Chr6:52024944	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications		rs_571966529	3 SubmittersRCV000735023 RCV001086403 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	Criteria Provided Conflicting Classifications		rs_577306911	2 SubmittersRCV000735073 RCV001499167
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		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		rs_1273202231	1 SubmittersRCV000766230
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	SNV Germline	Chr6:52046089	Pathogenic/Likely pathogenic	Autosomal recessive polycystic kidney disease Condition: not provided Polycystic kidney disease 4 PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_199568593	15 SubmittersRCV000779513 RCV000788709 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		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		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		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		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 Polycystic kidney disease 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_779050294	7 SubmittersRCV000781727 RCV002477789 RCV001507664
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)	SNV Germline	Chr6:52071028	Likely pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		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		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		rs_1485161784	5 SubmittersRCV000781719 RCV003461058
NM_138694.4(PKHD1):c.1119-18C>G	SNV Germline	Chr6:52060060	Conflicting classifications of pathogenicity	not specified Autosomal recessive polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications		rs_367960459	3 SubmittersRCV000781725 RCV002067384 RCV003908087
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		rs_752327566	8 SubmittersRCV000780595 RCV000788977 RCV001810486
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)	SNV Germline	Chr16:2108511	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease	Criteria Provided Conflicting Classifications		rs_1567191874	4 SubmittersRCV000992593 RCV000785952
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)	SNV Germline	Chr6:51753287	Likely pathogenic	Autosomal recessive polycystic kidney disease	No Assertion Criteria Provided		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		rs_1582470309	1 SubmittersRCV000786959
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	SNV Germline	Chr6:51775844	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Autosomal dominant polycystic liver disease PKHD1-related disorder Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_200432861	6 SubmittersRCV000788914 RCV001004194 RCV001844847 RCV004748966 RCV003472329
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		rs_1581808463	3 SubmittersRCV000788601 RCV001220463
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	SNV Germline	Chr6:52028249	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease Polycystic kidney disease 4 Autosomal dominant polycystic liver disease PKHD1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_367707903	10 SubmittersRCV000788447 RCV001004206 RCV001027935 RCV001810487 RCV001844845 RCV003396367
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	SNV Germline	Chr6:52043092	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive polycystic kidney disease Polycystic kidney disease PKHD1-related disorder	Criteria Provided Conflicting Classifications		rs_777158800	6 SubmittersRCV000788922 RCV001035971 RCV001292497 RCV003928273
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	Criteria Provided Conflicting Classifications		rs_1582038191	3 SubmittersRCV000788572 RCV000813103
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		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		rs_753471298	4 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		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		rs_1242089464	5 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		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 not specified	Criteria Provided Conflicting Classifications		rs_369292828	5 SubmittersRCV000809918 RCV003117601
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		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		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		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	Criteria Provided Conflicting Classifications		rs_371830478	3 SubmittersRCV000861090 RCV003975368
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		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		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 Inborn genetic diseases PKHD1-related disorder	Criteria Provided Conflicting Classifications		rs_560133266	5 SubmittersRCV000861182 RCV003480882 RCV003259003 RCV003965634
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		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		rs_199768081	3 SubmittersRCV000864517 RCV001091110
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		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		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		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		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		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		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	Criteria Provided Conflicting Classifications		rs_1582024305	2 SubmittersRCV000987719 RCV004702555
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)	SNV Germline	Chr6:51830924	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_794727756	2 SubmittersRCV000991309 RCV002505501
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)	SNV Germline	Chr6:52025623	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease not specified	Criteria Provided Conflicting Classifications		rs_1581809655	4 SubmittersRCV000995603 RCV004526792
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter)	SNV Unknown	Chr6:52043006	Pathogenic	Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		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		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		rs_765020336	4 SubmittersRCV001004189 RCV002471011
NM_138694.4(PKHD1):c.8174-2A>T	SNV Germline	Chr6:51830991	Likely pathogenic	Polycystic kidney disease 4 Autosomal recessive polycystic kidney disease	Criteria Provided Single Submitter		rs_1582925274	2 SubmittersRCV002290985 RCV003611544
NM_138694.4(PKHD1):c.5751+3A>G	SNV Germline	Chr6:52010306	Pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Multiple Submitters No Conflicts		rs_1581726525	3 SubmittersRCV001004199 RCV002471012
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)	SNV Germline	Chr6:52010310	Conflicting classifications of pathogenicity	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4 Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_1412045164	3 SubmittersRCV001004200 RCV003467571 RCV001786423 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		rs_1464962854	3 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		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		rs_1554213853	1 SubmittersRCV001004208
NM_138694.4(PKHD1):c.1836+1G>A	SNV Germline	Chr6:52055586	Likely pathogenic	Autosomal recessive polycystic kidney disease Polycystic kidney disease 4	Criteria Provided Single Submitter		rs_780898021	3 SubmittersRCV001004210 RCV002290987

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
Periportal fibrosis
Polycystic kidney disease
Oligohydramnios
Polycystic kidney disease
Autosomal dominant polycystic liver disease
Polycystic kidney disease 4
PKHD1-related disorder
Inborn genetic diseases
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA129366

rs_137852944

44 SubmittersRCV000004324 RCV000023566 RCV000082517 RCV000414898 RCV000626993 RCV000845138 RCV001535891 RCV003415647 RCV004018552 RCV004584312

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

11 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
PKHD1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253011

rs_137852947

9 SubmittersRCV000004328 RCV003137490 RCV004748496 RCV004589495

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

SNV
Germline

Chr6:51659468

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253013

rs_137852948

6 SubmittersRCV000004329 RCV000623522 RCV003415648 RCV003460425

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

4 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

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

Criteria Provided
Conflicting Classifications

CA149495

rs_201349527

5 SubmittersRCV000588326 RCV001512862 RCV003891579 RCV000082532

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

19 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

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

Criteria Provided
Conflicting Classifications

CA224064

rs_138989655

7 SubmittersRCV000306360 RCV001449949 RCV000082544

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

5 SubmittersRCV000488108 RCV001488784 RCV002513851 RCV003133132 RCV004748568

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

SNV
Germline

Chr6:52028179

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA224068

rs_141574387

8 SubmittersRCV000860578 RCV001588907 RCV000082546

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

SNV
Germline

Chr6:52025506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224075

rs_138242579

7 SubmittersRCV001158630 RCV001578915 RCV002513852 RCV003894941 RCV000082552

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

SNV
Germline

Chr6:52025467

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA149510

rs_116809571

10 SubmittersRCV000229420 RCV000224846 RCV000082553

NM_138694.4(PKHD1):c.5236+1G>A

SNV
Germline

Chr6:52024573

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224078

rs_398124487

2 SubmittersRCV000177669 RCV000790689

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

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

Criteria Provided
Conflicting Classifications

CA224082

rs_149553146

7 SubmittersRCV000671325 RCV003945030 RCV000082562

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

SNV
Germline

Chr6:52071040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224086

rs_144025892

7 SubmittersRCV000327475 RCV001449950 RCV000082566

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

SNV
Germline

Chr6:51883163

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224091

rs_398124492

4 SubmittersRCV001004196 RCV002272061 RCV000082569

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

SNV
Germline

Chr6:51847975

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224095

rs_371510537

10 SubmittersRCV000487822 RCV001731369 RCV003974991 RCV000206771

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

SNV
Germline

Chr6:51791331

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224098

rs_147222255

18 SubmittersRCV000473573 RCV000659055 RCV001507100 RCV001844807 RCV003935071 RCV000082581

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

SNV
Germline

Chr6:51791269

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224100

rs_398124495

8 SubmittersRCV000790666 RCV001174653 RCV003407467 RCV000179135

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

SNV
Germline

Chr6:51791268

Likely pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224101

rs_398124496

2 SubmittersRCV001854440 RCV000179136

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

SNV
Germline

Chr6:51791251

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224103

rs_398124497

6 SubmittersRCV000531951 RCV002470760 RCV003398682 RCV000082584

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224108

rs_398124500

7 SubmittersRCV000790758 RCV000169555 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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224114

rs_398124503

9 SubmittersRCV000174804 RCV000790671 RCV004748570 RCV001580453

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

Criteria Provided
Conflicting Classifications

CA234574

rs_727504088

4 SubmittersRCV000153719 RCV000765889 RCV002516089

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

SNV
Germline

Chr6:52053238

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA234582

rs_727504092

3 SubmittersRCV000153723 RCV001379301

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

SNV
Germline

Chr6:51747897

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA234565

rs_146649803

7 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

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

Criteria Provided
Conflicting Classifications

CA234563

rs_146519878

9 SubmittersRCV000153705 RCV000196023 RCV001292125 RCV001572539 RCV001844810 RCV003937433

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

SNV
Germline

Chr6:52043721

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA234576

rs_727504089

9 SubmittersRCV000176696 RCV000790818 RCV001781495 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
Inborn genetic diseases
not specified
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA234584

rs_138968608

7 SubmittersRCV000153724 RCV001079254 RCV002516090 RCV003150954 RCV003965145

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

SNV
Germline

Chr6:52079920

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA234592

rs_727504096

9 SubmittersRCV000179011 RCV000796722 RCV004584358 RCV000626995 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

Criteria Provided
Conflicting Classifications

CA234559

rs_78518523

11 SubmittersRCV000153701 RCV000723889 RCV001164890 RCV001810428 RCV003945211

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

Criteria Provided
Multiple Submitters
No Conflicts

CA334736

rs_200391019

29 SubmittersRCV000168407 RCV000479548 RCV000626996 RCV001292108 RCV001331702 RCV001507098 RCV001844812 RCV003398859

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

SNV
Germline

Chr6:51632706

Pathogenic/Likely 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

9 SubmittersRCV000169255 RCV000726420 RCV001331692 RCV003937523

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

SNV
Germline

Chr6:51748297

Pathogenic/Likely 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

8 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
Condition: not provided
not specified
Polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA203171

rs_113562492

10 SubmittersRCV000169052 RCV001527869 RCV000179159 RCV001292233

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

SNV
Germline

Chr6:51847966

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274412

rs_181208607

12 SubmittersRCV000169564 RCV000415427 RCV001091108 RCV001374661 RCV001814084

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
Condition: not provided
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA274186

rs_142107837

6 SubmittersRCV000169334 RCV001843489 RCV002492692

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

SNV
Germline

Chr6:52043636

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274389

rs_786204707

4 SubmittersRCV000169522 RCV000415273 RCV000626994

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274068

rs_745770404

9 SubmittersRCV000169230 RCV001283774 RCV003927564

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

SNV
Germline

Chr6:52054122

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274375

rs_786204696

5 SubmittersRCV000169507 RCV003398869 RCV001844813

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

7 SubmittersRCV000169512 RCV003152689 RCV004748617

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

SNV
Germline

Chr6:52058355

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274284

rs_754392766

8 SubmittersRCV000169415 RCV000735398 RCV000725681 RCV003156078 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_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

not specified
Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA242234

rs_188914598

8 SubmittersRCV000249026 RCV000724186 RCV001160100

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

8 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
Polycystic kidney disease 4
Condition: not provided
Autosomal dominant polycystic liver disease

Criteria Provided
Multiple Submitters
No Conflicts

CA275144

rs_773136605

10 SubmittersRCV000176777 RCV001198369 RCV000724042 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
not specified
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA242990

rs_794727466

6 SubmittersRCV000176895 RCV001276778 RCV004689656 RCV004748633

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

SNV
Germline

Chr6:52033152

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243064

rs_201123815

5 SubmittersRCV000176952 RCV002485152 RCV002517706 RCV004020100

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

6 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
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA244856

rs_150838488

11 SubmittersRCV000274741 RCV000724484 RCV001844070 RCV003947510

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

SNV
Germline

Chr6:51912453

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202674

rs_147487242

9 SubmittersRCV000177959 RCV000354123 RCV000857781

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

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

Criteria Provided
Conflicting Classifications

CA245465

rs_141790557

8 SubmittersRCV000178381 RCV000406304 RCV001706142 RCV003927661

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

Criteria Provided
Conflicting Classifications

CA275271

rs_142526715

15 SubmittersRCV000224543 RCV000765886 RCV001844816 RCV002282003 RCV003917663

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
Autosomal dominant polycystic liver disease
PKHD1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245849

rs_150046042

12 SubmittersRCV000178676 RCV000806672 RCV001358740 RCV001844817 RCV003977466 RCV003352795

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA246375

rs_794727759

7 SubmittersRCV000790749 RCV000336528 RCV003474935

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275361

rs_781368899

16 SubmittersRCV000627228 RCV000845132 RCV000844922 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

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

Criteria Provided
Conflicting Classifications

CA246986

rs_143616240

11 SubmittersRCV000179675 RCV000589131 RCV000674658 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
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA338262

rs_199900211

8 SubmittersRCV000198885 RCV000730606 RCV003129804 RCV003967536

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

SNV
Germline

Chr6:51648091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337383

rs_41273722

9 SubmittersRCV000251856 RCV001162836 RCV001545553 RCV003891772

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

Criteria Provided
Conflicting Classifications

CA337220

rs_150925674

13 SubmittersRCV000197457 RCV000254142 RCV000590788

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
Condition: not provided
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853086

rs_139815340

10 SubmittersRCV000225884 RCV000250293 RCV001706278 RCV001449647

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

SNV
Germline

Chr6:51836392

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3851719

rs_368093611

4 SubmittersRCV000246958 RCV000357751

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

Criteria Provided
Conflicting Classifications

CA3852608

rs_45517932

10 SubmittersRCV000253664 RCV000558453 RCV000987715

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

Criteria Provided
Conflicting Classifications

CA3853298

rs_141622697

6 SubmittersRCV000254512 RCV000725680 RCV001086206 RCV003891982

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

SNV
Germline

Chr6:52083169

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3854034

rs_367608402

4 SubmittersRCV000250803 RCV001088979 RCV000727487

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
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3854036

rs_201195801

4 SubmittersRCV000398350 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
PKHD1-related disorder
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

CA3852958

rs_144365187

4 SubmittersRCV000311356 RCV004748688 RCV002059116

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
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852704

rs_147098776

3 SubmittersRCV000292605 RCV001454131 RCV004725139

NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu)

SNV
Germline

Chr6:52022809

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501106

rs_886042677

3 SubmittersRCV000365257 RCV000725304

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

Criteria Provided
Conflicting Classifications

CA3851385

rs_147351244

7 SubmittersRCV000317863 RCV000392284 RCV003441833 RCV003920094

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
Polycystic kidney disease 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3853807

rs_748365248

5 SubmittersRCV000300283 RCV001810443 RCV000725728

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

Criteria Provided
Conflicting Classifications

CA3852602

rs_141103838

12 SubmittersRCV000373143 RCV000414198 RCV001580479 RCV003391047

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

SNV
Germline

Chr6:52082399

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853985

rs_370277502

10 SubmittersRCV000337196 RCV001004221 RCV001535928 RCV003417901

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

SNV
Germline

Chr6:51909466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852238

rs_368263958

4 SubmittersRCV000819334 RCV000350995 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
Condition: not provided
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852983

rs_148335285

7 SubmittersRCV000337623 RCV000394496 RCV001706416 RCV003957472

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

SNV
Germline

Chr6:52025553

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3852752

rs_577832997

4 SubmittersRCV000390756 RCV001276777 RCV000725949

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

Criteria Provided
Conflicting Classifications

CA3850859

rs_149427926

4 SubmittersRCV000273670 RCV001079830

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

SNV
Germline

Chr6:52025518

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852742

rs_753307105

7 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
Autosomal recessive polycystic kidney disease
not specified
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3850972

rs_142855690

7 SubmittersRCV000356617 RCV001086169 RCV001193196 RCV001449929

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

Criteria Provided
Conflicting Classifications

CA3852799

rs_373255125

6 SubmittersRCV000264443 RCV000374359 RCV002470838 RCV003949917

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

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

Criteria Provided
Conflicting Classifications

CA3851843

rs_200204857

8 SubmittersRCV000336713 RCV000528475 RCV001084453 RCV001844822 RCV003940059

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

SNV
Germline

Chr6:52050242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853307

rs_201432731

9 SubmittersRCV000405708 RCV000549371 RCV001844823 RCV003910015

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

6 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
PKHD1-related disorder
Polycystic kidney disease 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3852766

rs_139063552

7 SubmittersRCV000340674 RCV000402008 RCV004748701 RCV002502151 RCV004021291

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

SNV
Germline

Chr6:52082389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853983

rs_79803080

6 SubmittersRCV000332244 RCV000542647 RCV001753747 RCV003910033

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

Criteria Provided
Conflicting Classifications

CA3852721

rs_146745096

7 SubmittersRCV000350289 RCV000765888 RCV003409420

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

Criteria Provided
Conflicting Classifications

CA3853094

rs_142205860

7 SubmittersRCV000266382 RCV000304554 RCV003417914

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
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3851902

rs_200679577

6 SubmittersRCV000331367 RCV000372441 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

Criteria Provided
Conflicting Classifications

CA3853837

rs_762584715

3 SubmittersRCV000310909 RCV001458615 RCV003897657

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

Criteria Provided
Conflicting Classifications

CA3853345

rs_199858063

3 SubmittersRCV000345048 RCV001493846

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
not specified
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853291

rs_777183511

9 SubmittersRCV000288236 RCV000317551 RCV001844826 RCV002509355 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
Polycystic kidney disease 4
Autosomal dominant polycystic liver disease
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853487

rs_142896856

10 SubmittersRCV000361497 RCV000377159 RCV001336939 RCV001844827 RCV004021315 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.9705T>A (p.Asn3235Lys)

SNV
Germline

Chr6:51747911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851350

rs_759568939

8 SubmittersRCV000265753 RCV001526423 RCV004591130

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

SNV
Germline

Chr6:51748214

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851394

rs_143737660

8 SubmittersRCV000591117 RCV001449936 RCV000372328 RCV000781720

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3851503

rs_760222236

11 SubmittersRCV000521323 RCV000390646 RCV002502379 RCV001292483 RCV003409556

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

8 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

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3853350

rs_746441159

4 SubmittersRCV000388330 RCV000595453

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

SNV
Germline

Chr6:52053210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853359

rs_200497761

7 SubmittersRCV000348938 RCV001336940 RCV003418076 RCV001824136 RCV000596106

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

Criteria Provided
Conflicting Classifications

CA3852254

rs_750822014

2 SubmittersRCV000404946

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

SNV
Germline

Chr6:52024698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852614

rs_202010726

6 SubmittersRCV000733100 RCV000380232 RCV001507321 RCV003932475

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
PKHD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3853120

rs_200511208

6 SubmittersRCV000323980 RCV000591055 RCV003932476 RCV003114511

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

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627219

rs_886061623

5 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
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852419

rs_376709130

5 SubmittersRCV000367037 RCV000596174 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/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16041022

rs_199839578

7 SubmittersRCV000411765 RCV002504202

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

SNV
Germline

Chr6:51659417

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041025

rs_1057516345

2 SubmittersRCV000410089

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041031

rs_1057516577

6 SubmittersRCV000411085 RCV000727620 RCV003463795

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

SNV
Germline

Chr6:51747933

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041032

rs_1057516445

3 SubmittersRCV000411250

NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter)

SNV
Unknown

Chr6:51847832

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16041037

rs_1057516490

1 SubmittersRCV000411627

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

SNV
Germline

Chr6:51867900

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041041

rs_1057516751

2 SubmittersRCV000412217

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.7084C>T (p.Gln2362Ter)

SNV
Unknown

Chr6:51887158

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16041044

rs_1057516221

2 SubmittersRCV000410291 RCV003463786

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

SNV
Unknown

Chr6:51903683

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16041045

rs_1057516441

1 SubmittersRCV000409558

NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter)

SNV
Unknown

Chr6:51909439

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16041046

rs_1057516706

1 SubmittersRCV000409143

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

4 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

6 SubmittersRCV000411938 RCV002488836

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

SNV
Germline

Chr6:52017525

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3852502

rs_774759689

6 SubmittersRCV000410933 RCV003463799 RCV001844829

NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter)

SNV
Unknown

Chr6:52017558

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16041050

rs_1057516692

1 SubmittersRCV000409181

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

SNV
Germline

Chr6:52024928

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3852648

rs_267601070

5 SubmittersRCV000410465 RCV003463803

NM_138694.4(PKHD1):c.3561-2A>G

SNV
Unknown

Chr6:52027898

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16041059

rs_1057516982

1 SubmittersRCV000410032

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.2192C>A (p.Ser731Ter)

SNV
Germline

Chr6:52050244

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16041068

rs_1057516608

2 SubmittersRCV000412139 RCV002470849

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

SNV
Germline

Chr6:52069487

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041071

rs_1057516768

2 SubmittersRCV000411384

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.448+2T>C

SNV
Unknown

Chr6:52076274

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16041073

rs_1057517270

1 SubmittersRCV000410878

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

Criteria Provided
Conflicting Classifications

CA3853582

rs_149781976

14 SubmittersRCV000415990 RCV000669988 RCV001844830 RCV003922678

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

SNV
Germline

Chr6:51748086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851379

rs_200511261

10 SubmittersRCV000444254 RCV000502876 RCV001336942 RCV003418109

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

Criteria Provided
Conflicting Classifications

CA3853210

rs_199531851

7 SubmittersRCV000432815 RCV001004207 RCV003152602

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

SNV
Germline

Chr6:52042976

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA3853068

rs_757854282

2 SubmittersRCV000449535

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

Criteria Provided
Conflicting Classifications

CA3850617

rs_201210830

6 SubmittersRCV000457190 RCV000592520 RCV001193199 RCV003243135

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

13 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853831

rs_369925690

23 SubmittersRCV000681918 RCV000467466 RCV003985354 RCV001262841 RCV003401465

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.9877G>A (p.Asp3293Asn)

SNV
Germline

Chr6:51746842

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

CA16612174

rs_1060501356

1 SubmittersRCV000476666

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

SNV
Germline

Chr6:51772791

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA138907851

rs_1020621286

7 SubmittersRCV000492982 RCV001775124 RCV001004192 RCV003419833

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

SNV
Germline

Chr6:51748320

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3851414

rs_757946548

4 SubmittersRCV000498382 RCV001829415 RCV003464070

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

SNV
Germline

Chr6:51959953

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364421541

rs_1210846081

6 SubmittersRCV000500109 RCV001291854 RCV002506218

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.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

Criteria Provided
Conflicting Classifications

CA3851291

rs_45627337

11 SubmittersRCV000509311 RCV000594183 RCV001844835 RCV002470891 RCV002527385 RCV004748796

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

SNV
Germline

Chr11:103245376

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382246199

rs_1261505725

5 SubmittersRCV000516017 RCV001291173 RCV001328199 RCV003159657 RCV001857881

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

7 SubmittersRCV000529518 RCV000733218 RCV003476228

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

SNV
Germline

Chr6:52043635

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364442529

rs_1344820986

7 SubmittersRCV000548550 RCV003925600 RCV001535924

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
not specified
Condition: not provided
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA138918438

rs_778329699

5 SubmittersRCV000545902 RCV001731754 RCV001755812 RCV002483376

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

SNV
Germline

Chr6:51659952

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3851135

rs_201082169

11 SubmittersRCV000578239 RCV002470913 RCV001249102 RCV003420014

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

8 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

Criteria Provided
Conflicting Classifications

CA3850796

rs_201478327

4 SubmittersRCV000586413 RCV001162834 RCV001555004

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

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

Criteria Provided
Conflicting Classifications

CA3852825

rs_374233100

4 SubmittersRCV000587125 RCV001274854 RCV002483572 RCV004024688

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

SNV
Germline

Chr6:51906241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852183

rs_146102132

5 SubmittersRCV000593640 RCV001479944 RCV003160006 RCV003915687

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

SNV
Germline

Chr6:51659267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851006

rs_149163661

9 SubmittersRCV000595376 RCV000816584 RCV002532360 RCV003151109 RCV003925761

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
Polycystic kidney disease 4
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3852501

rs_201105958

12 SubmittersRCV000592600 RCV000723529 RCV003471950 RCV004748832

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

SNV
Germline

Chr6:51659124

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3850975

rs_114237522

5 SubmittersRCV000592223 RCV001086538 RCV003945382

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

SNV
Germline

Chr6:52054089

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

CA3853396

rs_181546197

6 SubmittersRCV000592067 RCV001163765 RCV003133389 RCV004024712 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
Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853301

rs_373367366

4 SubmittersRCV000597237 RCV002531000 RCV002491181

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
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

CA3853741

rs_375145340

5 SubmittersRCV000592287 RCV001860162 RCV003403388 RCV003465335

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

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

Criteria Provided
Conflicting Classifications

CA3852860

rs_376121326

3 SubmittersRCV000591315 RCV001453690 RCV002532394

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
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853833

rs_199897497

6 SubmittersRCV000593464 RCV001163885 RCV003935596

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

SNV
Germline

Chr6:51659772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3851095

rs_562503637

5 SubmittersRCV000595378 RCV003409859 RCV001034151 RCV003989565

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

Criteria Provided
Conflicting Classifications

CA3853294

rs_200654041

4 SubmittersRCV000592931 RCV001163477

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

6 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
Autosomal recessive polycystic kidney disease
not specified
Polycystic kidney disease
Autosomal dominant polycystic liver disease

Criteria Provided
Conflicting Classifications

CA3853963

rs_149841071

10 SubmittersRCV000595963 RCV000671191 RCV001290597 RCV001292159 RCV001844839

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

6 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

Criteria Provided
Conflicting Classifications

CA3853302

rs_373367366

2 SubmittersRCV000596653 RCV001445253

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

7 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

Criteria Provided
Conflicting Classifications

CA3851730

rs_201254195

3 SubmittersRCV000591619 RCV001455016 RCV002532508

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
Condition: not provided
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

CA3853314

rs_140608845

6 SubmittersRCV000595818 RCV000633433 RCV004760640 RCV003927935

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

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

Criteria Provided
Conflicting Classifications

CA3852650

rs_190396031

6 SubmittersRCV003953000 RCV000596307 RCV001088747 RCV002470925

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

SNV
Germline

Chr6:52058528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853588

rs_146789444

6 SubmittersRCV000597573 RCV000765892 RCV004024858 RCV003927945

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

SNV
Germline

Chr6:52025976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3852828

rs_145960781

4 SubmittersRCV000592266 RCV001084430 RCV003915738

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

SNV
Germline

Chr6:51856076

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

CA3851847

rs_367564272

4 SubmittersRCV000591197 RCV001088505 RCV001174777

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

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

Criteria Provided
Conflicting Classifications

CA3850991

rs_371329493

4 SubmittersRCV000596248 RCV001159983 RCV002532684

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

SNV
Germline

Chr6:52069532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3853798

rs_371844893

3 SubmittersRCV000592255 RCV001428619 RCV003900360

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
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3851440

rs_367678592

4 SubmittersRCV000624573 RCV001292490 RCV001377108 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.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

Criteria Provided
Conflicting Classifications

CA3854076

rs_750588859

4 SubmittersRCV000633432 RCV001569911 RCV003432661

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3853636

rs_376040501

11 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

rs_144193508

8 SubmittersRCV000665966 RCV001784237 RCV002245081

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

SNV
Germline

Chr6:51626996

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1488844530

2 SubmittersRCV000670802

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

SNV
Germline

Chr6:51748245

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_373241537

2 SubmittersRCV000666787

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

SNV
Germline

Chr6:51753258

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_770068023

3 SubmittersRCV000672675

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

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
not specified
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_369626030

4 SubmittersRCV000670644 RCV001527048 RCV003472125

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

SNV
Germline

Chr6:52022858

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770522674

9 SubmittersRCV000664790 RCV002507150 RCV002305527 RCV004748888

NM_138694.4(PKHD1):c.5237-2A>C

SNV
Unknown

Chr6:52022946

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554197152

1 SubmittersRCV000665107

NM_138694.4(PKHD1):c.3228+1G>C

SNV
Unknown

Chr6:52035590

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_868673401

1 SubmittersRCV000674183

NM_138694.4(PKHD1):c.2408-2A>G

SNV
Unknown

Chr6:52046190

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554210085

1 SubmittersRCV000671299

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

SNV
Unknown

Chr6:52053075

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554213853

1 SubmittersRCV000670308

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

SNV
Germline

Chr6:52069498

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1037991711

2 SubmittersRCV000667175

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

rs_1554227278

4 SubmittersRCV000667904 RCV000998621 RCV003465479

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

SNV
Unknown

Chr6:52083257

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554228601

1 SubmittersRCV000674953

NM_138694.4(PKHD1):c.11507-7G>A

SNV
Germline

Chr6:51632730

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_373438297

3 SubmittersRCV000665010

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

SNV
Germline

Chr6:51649177

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

rs_1554176504

3 SubmittersRCV000669544 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

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

rs_1554218666

5 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

rs_759851475

5 SubmittersRCV000671482 RCV001784270

NM_138694.4(PKHD1):c.11311-2A>G

SNV
Unknown

Chr6:51648120

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554174903

1 SubmittersRCV000672028

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

SNV
Germline

Chr6:51649111

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_1229349983

3 SubmittersRCV000675040 RCV003465541

NM_138694.4(PKHD1):c.8303-2A>G

SNV
Unknown

Chr6:51791375

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554243821

1 SubmittersRCV000673889

NM_138694.4(PKHD1):c.6490+1G>A

SNV
Unknown

Chr6:51911798

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554133736

1 SubmittersRCV000667479

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

rs_141081295

6 SubmittersRCV000664770 RCV003129981 RCV004719925

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

SNV
Germline

Chr6:51748557

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_757148837

3 SubmittersRCV000674611 RCV004568567

NM_138694.4(PKHD1):c.8950+1G>T

SNV
Unknown

Chr6:51753200

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1351918391

2 SubmittersRCV000671633 RCV002485554

NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)

SNV
Germline

Chr6:52022839

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1554197025

3 SubmittersRCV000667386 RCV000733076

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

SNV
Germline

Chr6:52024681

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749294509

6 SubmittersRCV000665691 RCV001293534 RCV001526534 RCV003442011

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

SNV
Germline

Chr6:51847971

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1160209891

2 SubmittersRCV000666936

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

SNV
Germline

Chr6:51627042

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_761704401

4 SubmittersRCV000670650 RCV003459618 RCV003392511

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

rs_1554208257

3 SubmittersRCV000671833 RCV003459631

NM_138694.4(PKHD1):c.2715+1G>C

SNV
Unknown

Chr6:52044965

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554209188

1 SubmittersRCV000672906

NM_138694.4(PKHD1):c.7912-2A>G

SNV
Unknown

Chr6:51847972

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554271235

2 SubmittersRCV000672383 RCV003459637

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

SNV
Germline

Chr6:52065000

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_890884615

2 SubmittersRCV000670400

NM_138694.4(PKHD1):c.7911+19T>C

SNV
Germline

Chr6:51855874

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

rs_201017366

3 SubmittersRCV000670468 RCV000780597

NM_138694.4(PKHD1):c.603-1G>A

SNV
Unknown

Chr6:52071071

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554223403

1 SubmittersRCV000672999

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

SNV
Germline

Chr6:51870503

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554282419

2 SubmittersRCV000672762

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
not specified
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_777377414

5 SubmittersRCV000673683 RCV000788834 RCV003330894 RCV003459642

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

SNV
Germline

Chr6:52084923

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554229312

3 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

Criteria Provided
Conflicting Classifications

rs_141360909

8 SubmittersRCV000665022 RCV000727569 RCV004748889

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

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

rs_1340926191

4 SubmittersRCV000670931 RCV002499176

NM_138694.4(PKHD1):c.6491-1G>A

SNV
Unknown

Chr6:51909475

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554132790

1 SubmittersRCV000669810

NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr)

SNV
Unknown

Chr6:51934238

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_1210348558

2 SubmittersRCV000668292 RCV003472098

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

SNV
Germline

Chr6:52017489

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

rs_913487671

4 SubmittersRCV000666915 RCV003403545

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

SNV
Germline

Chr6:52017562

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554194511

3 SubmittersRCV000665876

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
Multiple Submitters
No Conflicts

rs_1020621286

2 SubmittersRCV000669137 RCV004568521

NM_138694.4(PKHD1):c.8107+1G>C

SNV
Unknown

Chr6:51847774

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554270880

1 SubmittersRCV000674970

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

SNV
Germline

Chr6:52025393

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554198717

2 SubmittersRCV000671958

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

SNV
Germline

Chr6:51882440

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1240212722

7 SubmittersRCV000667179 RCV002272320

NM_138694.4(PKHD1):c.3228+1G>T

SNV
Germline

Chr6:52035590

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_868673401

2 SubmittersRCV000666478 RCV002289952

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

SNV
Germline

Chr6:51903693

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_776060304

6 SubmittersRCV000674293 RCV001565179 RCV003472168 RCV003411585

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

rs_747895516

4 SubmittersRCV000668499 RCV003459597

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

SNV
Germline

Chr6:52043102

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_773136605

2 SubmittersRCV000664542

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

Criteria Provided
Conflicting Classifications

rs_1554144226

4 SubmittersRCV000667357 RCV003442013

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

rs_758352210

5 SubmittersRCV000664559 RCV003472063

NM_138694.4(PKHD1):c.2141-2A>C

SNV
Unknown

Chr6:52050297

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554212403

1 SubmittersRCV000666418

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

SNV
Germline

Chr6:52026063

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_748540413

7 SubmittersRCV000667920 RCV003459590 RCV003918107 RCV003236830

NM_138694.4(PKHD1):c.3097+2T>C

SNV
Unknown

Chr6:52042857

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554207834

1 SubmittersRCV000671974

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

rs_750730042

5 SubmittersRCV000666503 RCV003459579

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

SNV
Unknown

Chr6:52053075

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554213853

1 SubmittersRCV000669011

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

rs_750730042

7 SubmittersRCV000671679 RCV002509503 RCV001784272

NM_138694.4(PKHD1):c.708-2A>C

SNV
Unknown

Chr6:52069529

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_753492974

1 SubmittersRCV000672352

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

SNV
Germline

Chr6:52070404

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554222939

2 SubmittersRCV000665516

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

rs_1554219429

3 SubmittersRCV000665124 RCV004568489

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

SNV
Germline

Chr6:52065011

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1288017883

3 SubmittersRCV000667097

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

rs_754448530

3 SubmittersRCV000666991 RCV002499157

NM_138694.4(PKHD1):c.708-1G>A

SNV
Unknown

Chr6:52069528

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1554222508

1 SubmittersRCV000674065

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

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

rs_1554227215

2 SubmittersRCV000677707

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

rs_764696718

5 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

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

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

rs_141093030

5 SubmittersRCV000700536 RCV001759393 RCV002485720

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

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
Inborn genetic diseases
not specified
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

rs_147612089

7 SubmittersRCV000727592 RCV000814275 RCV002535047 RCV003151141 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

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

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

Criteria Provided
Conflicting Classifications

rs_771622189

3 SubmittersRCV000728325 RCV001431382 RCV003918189

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

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

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

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

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

rs_769559267

9 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

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

Criteria Provided
Conflicting Classifications

rs_763499782

4 SubmittersRCV000728890 RCV001435317 RCV004026957 RCV004748926

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
Inborn genetic diseases
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_145141656

7 SubmittersRCV000729058 RCV001239749 RCV004026962 RCV002485863

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

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

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

rs_753648991

2 SubmittersRCV000729585 RCV001458179

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

SNV
Germline

Chr6:51748509

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_893497345

8 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

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

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

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

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

rs_138464473

2 SubmittersRCV000729762 RCV001487514

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

SNV
Germline

Chr6:51659158

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1303599332

3 SubmittersRCV000729845 RCV001779069 RCV002067101

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_200733734

4 SubmittersRCV000730746 RCV001418303 RCV003420301

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_773123823

3 SubmittersRCV000731006 RCV002060998 RCV004800562

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

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

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

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
PKHD1-related disorder
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_535128714

4 SubmittersRCV000731260 RCV001087601 RCV004748938 RCV001507322

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_372102850

4 SubmittersRCV000732167 RCV001470943 RCV003165982

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

Criteria Provided
Conflicting Classifications

rs_145789167

5 SubmittersRCV000732312 RCV001160098 RCV002535265

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

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

Criteria Provided
Conflicting Classifications

rs_137972270

3 SubmittersRCV000732510 RCV001158858

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

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

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

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

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

rs_1562177292

2 SubmittersRCV000733075 RCV001449132

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

SNV
Germline

Chr6:51627035

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760426769

5 SubmittersRCV000733087 RCV002485925 RCV001004184 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

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
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

rs_138672830

5 SubmittersRCV000733367 RCV001088603 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

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

Criteria Provided
Conflicting Classifications

rs_201611688

5 SubmittersRCV000733515 RCV000863592 RCV003938122

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

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
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

rs_151160618

5 SubmittersRCV000734169 RCV001475419 RCV002535370 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

rs_142678486

3 SubmittersRCV000734196 RCV001465273 RCV003918225

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

SNV
Germline

Chr6:51748271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_760710708

5 SubmittersRCV001089295 RCV003928247 RCV000734373

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

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

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

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

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

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

rs_376881116

3 SubmittersRCV000734593 RCV001455470

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

SNV
Germline

Chr6:52062654

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_770494581

5 SubmittersRCV001004214 RCV000734720 RCV001332901 RCV003489848

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

Criteria Provided
Conflicting Classifications

rs_113402912

2 SubmittersRCV000734723 RCV001419871

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

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

rs_759156564

2 SubmittersRCV000734939 RCV001427804

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

SNV
Germline

Chr6:52024944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_571966529

3 SubmittersRCV000735023 RCV001086403 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

Criteria Provided
Conflicting Classifications

rs_577306911

2 SubmittersRCV000735073 RCV001499167

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

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

rs_1273202231

1 SubmittersRCV000766230

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

SNV
Germline

Chr6:52046089

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_199568593

15 SubmittersRCV000779513 RCV000788709 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

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

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

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

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
Polycystic kidney disease 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_779050294

7 SubmittersRCV000781727 RCV002477789 RCV001507664

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

SNV
Germline

Chr6:52071028

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

rs_1485161784

5 SubmittersRCV000781719 RCV003461058

NM_138694.4(PKHD1):c.1119-18C>G

SNV
Germline

Chr6:52060060

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

rs_367960459

3 SubmittersRCV000781725 RCV002067384 RCV003908087

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

rs_752327566

8 SubmittersRCV000780595 RCV000788977 RCV001810486

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

SNV
Germline

Chr16:2108511

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_1567191874

4 SubmittersRCV000992593 RCV000785952

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

SNV
Germline

Chr6:51753287

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

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

rs_1582470309

1 SubmittersRCV000786959

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

SNV
Germline

Chr6:51775844

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_200432861

6 SubmittersRCV000788914 RCV001004194 RCV001844847 RCV004748966 RCV003472329

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

rs_1581808463

3 SubmittersRCV000788601 RCV001220463

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

SNV
Germline

Chr6:52028249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_367707903

10 SubmittersRCV000788447 RCV001004206 RCV001027935 RCV001810487 RCV001844845 RCV003396367

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

SNV
Germline

Chr6:52043092

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_777158800

6 SubmittersRCV000788922 RCV001035971 RCV001292497 RCV003928273

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

Criteria Provided
Conflicting Classifications

rs_1582038191

3 SubmittersRCV000788572 RCV000813103

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

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

rs_753471298

4 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

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

rs_1242089464

5 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

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
not specified

Criteria Provided
Conflicting Classifications

rs_369292828

5 SubmittersRCV000809918 RCV003117601

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_371830478

3 SubmittersRCV000861090 RCV003975368

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

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

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
Inborn genetic diseases
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

rs_560133266

5 SubmittersRCV000861182 RCV003480882 RCV003259003 RCV003965634

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

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

rs_199768081

3 SubmittersRCV000864517 RCV001091110

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_1582024305

2 SubmittersRCV000987719 RCV004702555

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

SNV
Germline

Chr6:51830924

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_794727756

2 SubmittersRCV000991309 RCV002505501

NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)

SNV
Germline

Chr6:52025623

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
not specified

Criteria Provided
Conflicting Classifications

rs_1581809655

4 SubmittersRCV000995603 RCV004526792

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

SNV
Unknown

Chr6:52043006

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

rs_765020336

4 SubmittersRCV001004189 RCV002471011

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

SNV
Germline

Chr6:51830991

Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1582925274

2 SubmittersRCV002290985 RCV003611544

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

SNV
Germline

Chr6:52010306

Pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1581726525

3 SubmittersRCV001004199 RCV002471012

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

SNV
Germline

Chr6:52010310

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1412045164

3 SubmittersRCV001004200 RCV003467571 RCV001786423 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

rs_1464962854

3 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

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

rs_1554213853

1 SubmittersRCV001004208

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

SNV
Germline

Chr6:52055586

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Single Submitter

rs_780898021

3 SubmittersRCV001004210 RCV002290987

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

SNV
Germline

Chr6:52055724

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

rs_1582053820

3 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

rs_1582085757

1 SubmittersRCV001004216

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

SNV
Germline

Chr6:52071006

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749454235

4 SubmittersRCV001004217 RCV001732010 RCV002290520 RCV003461308

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

SNV
Germline

Chr6:52073516

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1350620976

4 SubmittersRCV001004218 RCV003461309 RCV003325530

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

SNV
Germline

Chr6:51638880

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1768958447

1 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

rs_765934021

2 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

rs_1772510920

2 SubmittersRCV001052108

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

SNV
Germline

Chr6:51775865

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_371665285

3 SubmittersRCV001036025 RCV002269330

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

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

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

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

rs_1782629977

1 SubmittersRCV001037607

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

SNV
Germline

Chr6:51934185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1413693039

4 SubmittersRCV003396673 RCV001779110 RCV001052236 RCV003473648

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

SNV
Germline

Chr6:51959948

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_774290802

6 SubmittersRCV001069479 RCV003151279 RCV002497474

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

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

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

rs_1433540169

2 SubmittersRCV001070680 RCV004570305

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

SNV
Germline

Chr6:52028243

Pathogenic

Autosomal recessive polycystic kidney disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1802523270

2 SubmittersRCV001062632 RCV001508190

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

SNV
Germline

Chr6:52046033

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1805754682

1 SubmittersRCV001044857

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

SNV
Germline

Chr6:52058426

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_776845008

2 SubmittersRCV001055749

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

SNV
Germline

Chr6:51903728

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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
PKHD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147700643

4 SubmittersRCV001159984 RCV003945879 RCV003992452

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

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

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

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

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

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

rs_752646435

4 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

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

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

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

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

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

rs_1812167147

2 SubmittersRCV001158955

NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)

SNV
Germline

Chr6:52056701

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_765251347

9 SubmittersRCV001174805 RCV004749614 RCV002471039

NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr)

SNV
Germline

Chr6:52073532

Likely pathogenic

Autosomal recessive polycystic kidney disease

No Assertion Criteria Provided

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

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

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

rs_1781623229

1 SubmittersRCV001219862

NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)

SNV
Germline

Chr6:52035701

Pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_755183117

8 SubmittersRCV001780149 RCV001222497

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

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

rs_1791760028

1 SubmittersRCV001213042

NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter)

SNV
Germline

Chr6:52050179

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1806573538

1 SubmittersRCV001211325

NM_138694.4(PKHD1):c.1118+1G>T

SNV
Germline

Chr6:52062518

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

rs_1793689014

1 SubmittersRCV001218758

NM_138694.4(PKHD1):c.6808+1G>T

SNV
Germline

Chr6:51906214

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1217968843

4 SubmittersRCV001223409 RCV003469389 RCV004749627

NM_138694.4(PKHD1):c.5380+2T>G

SNV
Germline

Chr6:52022799

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

rs_759322460

3 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

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

rs_746000400

4 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

rs_1805547113

1 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

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

rs_1385712943

5 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

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

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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1783090781

3 SubmittersRCV001251457 RCV003399026 RCV004570644

NM_138694.4(PKHD1):c.3287T>C (p.Leu1096Pro)

SNV
Unknown

Chr6:52033107

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

rs_1320401077

3 SubmittersRCV001257514 RCV002261328

NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)

SNV
Germline

Chr6:51934296

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1583446897

5 SubmittersRCV001292352 RCV001863170 RCV002504426 RCV004699281

NM_138694.4(PKHD1):c.1694-2A>G

SNV
Germline

Chr6:52055731

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1807619777

1 SubmittersRCV002017996

NM_138694.4(PKHD1):c.11310+19C>T

SNV
Germline

Chr6:51649066

Conflicting classifications of pathogenicity

not specified
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

rs_767496904

2 SubmittersRCV001293532 RCV003502594

NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)

SNV
Germline

Chr6:51748464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1374086784

5 SubmittersRCV001293533 RCV001830113 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

Criteria Provided
Conflicting Classifications

rs_145219220

4 SubmittersRCV001306457 RCV002499580 RCV004749649

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

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

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

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

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

rs_373241537

1 SubmittersRCV001379393

NM_138694.4(PKHD1):c.8318T>G (p.Val2773Gly)

SNV
Germline

Chr6:51791358

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1471306684

1 SubmittersRCV001378594

NM_138694.4(PKHD1):c.8173+2T>G

SNV
Germline

Chr6:51836402

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

rs_1215290114

2 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

rs_2150415240

1 SubmittersRCV001387380

NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter)

SNV
Germline

Chr6:51744407

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_2150962096

1 SubmittersRCV001390998

NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter)

SNV
Germline

Chr6:51748636

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

rs_2128117147

1 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

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

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

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

rs_1210505160

1 SubmittersRCV001389535

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

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

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

rs_760893545

3 SubmittersRCV001424675 RCV002555126

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

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145163993

3 SubmittersRCV001470961 RCV002561952 RCV003481110

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

rs_144673879

2 SubmittersRCV001487484 RCV002562714

NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)

SNV
Germline

Chr6:51659089

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Conflicting Classifications

rs_1204544455

2 SubmittersRCV003771758 RCV001579051

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

SNV
Germline

Chr6:52022821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_367970695

6 SubmittersRCV001751808 RCV001844868 RCV003329410 RCV003502598 RCV003323914

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

Criteria Provided
Conflicting Classifications

rs_576001667

2 SubmittersRCV001774405 RCV002074018

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

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

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

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

rs_151198392

3 SubmittersRCV001794671 RCV002074119 RCV003931336

NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)

SNV
Germline

Chr6:51883179

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_201881567

3 SubmittersRCV002015121 RCV002492293 RCV004699625

NM_138694.4(PKHD1):c.4292G>T (p.Cys1431Phe)

SNV
Germline

Chr6:52025518

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_753307105

1 SubmittersRCV001979670

NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter)

SNV
Germline

Chr6:51748027

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_2150982651

1 SubmittersRCV001923013

NM_138694.4(PKHD1):c.11507-1G>A

SNV
Germline

Chr6:51632724

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

rs_375949362

2 SubmittersRCV001976134 RCV004956041

NM_138694.4(PKHD1):c.3365-3C>T

SNV
Germline

Chr6:52028354

Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_2128153381

2 SubmittersRCV002006205 RCV003464361

NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)

SNV
Germline

Chr6:52048555

Pathogenic/Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_371928571

3 SubmittersRCV002484648 RCV001960120

NM_138694.4(PKHD1):c.8426G>A (p.Gly2809Glu)

SNV
Germline

Chr6:51791250

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

rs_375437755

2 SubmittersRCV002007186 RCV003464283

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

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

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

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

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

rs_78624439

3 SubmittersRCV002000742 RCV003475268 RCV003234151

NM_138694.4(PKHD1):c.11310+1G>C

SNV
Germline

Chr6:51649084

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1365407882

4 SubmittersRCV002031165 RCV004801135 RCV003408098 RCV003464400

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

rs_369925690

3 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

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

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

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
PKHD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_1477456222

3 SubmittersRCV001953441 RCV003893017 RCV004690199

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

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

rs_2128209217

2 SubmittersRCV001995839 RCV003464357

NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)

SNV
Germline

Chr6:51748152

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_957419550

3 SubmittersRCV003154203 RCV003470946 RCV002033050

NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg)

SNV
Germline

Chr6:51747951

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777989032

2 SubmittersRCV001952938 RCV004043179

NM_138694.4(PKHD1):c.779-2A>G

SNV
Germline

Chr6:52066079

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

rs_1394431107

2 SubmittersRCV002003770 RCV003471232

NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter)

SNV
Germline

Chr6:51870595

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_1231660958

1 SubmittersRCV001863701

NM_138694.4(PKHD1):c.11174+2T>C

SNV
Germline

Chr6:51658950

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_2150410774

1 SubmittersRCV001977315

NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter)

SNV
Germline

Chr6:52022859

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_2128138552

1 SubmittersRCV001955055

NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter)

SNV
Germline

Chr6:51870517

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

rs_2151777194

1 SubmittersRCV001916469

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

Criteria Provided
Conflicting Classifications

rs_772507975

3 SubmittersRCV002085212 RCV003418368 RCV004045708

NM_138694.4(PKHD1):c.2275G>A (p.Ala759Thr)

SNV
Germline

Chr6:52050161

Conflicting classifications of pathogenicity

Autosomal recessive polycystic kidney disease
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

rs_550730673

2 SubmittersRCV002127545 RCV003408133

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

rs_2128163307

2 SubmittersRCV002192357 RCV004794576

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201858937

3 SubmittersRCV002146475 RCV003916325 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
Condition: not provided
PKHD1-related disorder

Criteria Provided
Conflicting Classifications

rs_201087689

4 SubmittersRCV002104043 RCV002282689 RCV003443007 RCV004749855

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

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

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

rs_2128144732

2 SubmittersRCV002266158 RCV003502614

NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)

SNV
Germline

Chr6:51847918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_748196998

4 SubmittersRCV003235695 RCV003471302 RCV002273390 RCV003096155

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

2 SubmittersRCV002282947

NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)

SNV
Germline

Chr6:51748084

Likely pathogenic

Autosomal recessive polycystic kidney disease
See cases

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003502617 RCV004584511

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

2 SubmittersRCV002308131 RCV003099151

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

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

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

2 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

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

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

1 SubmittersRCV003060050

NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)

SNV
Germline

Chr6:52042867

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003060052 RCV004572720

NM_138694.4(PKHD1):c.1418T>G (p.Ile473Ser)

SNV
Germline

Chr6:52058417

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003058903

NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)

SNV
Germline

Chr6:51847888

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

2 SubmittersRCV003078059 RCV004572753

NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr6:52058421

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002595155

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

2 SubmittersRCV002612293 RCV002612292

NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)

SNV
Germline

Chr6:51659738

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

1 SubmittersRCV003110775

NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)

SNV
Germline

Chr6:51753280

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003108653

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

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

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

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

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

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

1 SubmittersRCV002663039

NM_138694.4(PKHD1):c.3157G>C (p.Gly1053Arg)

SNV
Germline

Chr6:52035662

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002735109

NM_138694.4(PKHD1):c.8206T>A (p.Trp2736Arg)

SNV
Germline

Chr6:51830957

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

2 SubmittersRCV002695905 RCV003464587

NM_138694.4(PKHD1):c.2592+1G>T

SNV
Germline

Chr6:52046003

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002801604

NM_138694.4(PKHD1):c.11175-2A>G

SNV
Germline

Chr6:51649222

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

1 SubmittersRCV002962614

NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter)

SNV
Germline

Chr6:51659232

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV002953655

NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)

SNV
Germline

Chr6:51747837

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003009984

NM_138694.4(PKHD1):c.7215+1G>T

SNV
Germline

Chr6:51885866

Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003334405 RCV003019174

NM_138694.4(PKHD1):c.2639G>C (p.Arg880Pro)

SNV
Germline

Chr6:52045042

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003019176

NM_138694.4(PKHD1):c.1602+2T>C

SNV
Germline

Chr6:52056888

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003022110

NM_138694.4(PKHD1):c.1964+2T>C

SNV
Germline

Chr6:52054036

Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003459708 RCV003026974

NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)

SNV
Germline

Chr6:52053096

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

3 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

3 SubmittersRCV003134941 RCV003611628 RCV004725651

NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)

SNV
Germline

Chr6:52024636

Pathogenic/Likely pathogenic

Autosomal recessive polycystic kidney disease
Polycystic kidney disease 4

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003611631 RCV003152985

NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)

SNV
Germline

Chr6:52072144

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003611635 RCV003236330

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

2 SubmittersRCV003397560 RCV003611645

NM_138694.4(PKHD1):c.6332+1G>A

SNV
Germline

Chr6:51912365

Likely pathogenic

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472458 RCV003611654

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

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

2 SubmittersRCV003471679 RCV003502740

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

3 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

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

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

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

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

1 SubmittersRCV003503740

NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr6:52050290

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003504539

NM_138694.4(PKHD1):c.2280-1G>A

SNV
Germline

Chr6:52048620

Pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003504540

NM_138694.4(PKHD1):c.1160A>T (p.Asn387Ile)

SNV
Germline

Chr6:52060001

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003504541

NM_138694.4(PKHD1):c.53-3C>A

SNV
Germline

Chr6:52083258

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV003611728

NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)

SNV
Germline

Chr6:51959909

Conflicting classifications of pathogenicity

Polycystic kidney disease 4
Autosomal recessive polycystic kidney disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004796835 RCV003611729

NM_138694.4(PKHD1):c.281+1G>T

SNV
Germline

Chr6:52082391

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003612863

NM_138694.4(PKHD1):c.3229-1G>A

SNV
Germline

Chr6:52033166

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003613259

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

SNV
Germline

Chr6:51746720

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

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

2 SubmittersRCV003613477 RCV004573192

NM_138694.4(PKHD1):c.1846G>A (p.Ala616Thr)

SNV
Germline

Chr6:52054156

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV003611356

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

SNV
Germline

Chr6:51830991

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003822303

NM_138694.4(PKHD1):c.779-1G>A

SNV
Germline

Chr6:52066078

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003862290

NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)

SNV
Germline

Chr6:51747989

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003988485

NM_138694.4(PKHD1):c.10226A>T (p.Asp3409Val)

SNV
Germline

Chr6:51659900

Likely pathogenic

Autosomal recessive polycystic kidney disease

Criteria Provided
Single Submitter

1 SubmittersRCV004587976

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