Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr)	SNV Germline	Chr16:20348858	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1 Condition: not provided	Criteria Provided Single Submitter	CA256238	rs_28934582	2 SubmittersRCV002251318 RCV002513003
NM_003361.4(UMOD):c.649T>C (p.Cys217Arg)	SNV Germline	Chr16:20348652	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA256240	rs_28934583	1 SubmittersRCV002251319
NM_003361.4(UMOD):c.307G>T (p.Gly103Cys)	SNV Germline	Chr16:20348994	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder	Criteria Provided Single Submitter	CA256242	rs_28934584	2 SubmittersRCV002251320 RCV004528105
NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr)	SNV Germline	Chr16:20349071	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA256244	rs_121917768	1 SubmittersRCV002251321
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)	SNV Germline	Chr16:20348925	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA256246	rs_121917769	2 SubmittersRCV002251322
NM_003361.4(UMOD):c.383A>G (p.Asn128Ser)	SNV Germline	Chr16:20348918	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA256248	rs_121917770	1 SubmittersRCV002251323
NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr)	SNV Germline	Chr16:20348537	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA256250	rs_121917771	1 SubmittersRCV002251324
NM_003361.4(UMOD):c.898T>G (p.Cys300Gly)	SNV Germline	Chr16:20348298	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA256252	rs_121917772	1 SubmittersRCV002251325
NM_003361.4(UMOD):c.943T>C (p.Cys315Arg)	SNV Germline	Chr16:20348253	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA256254	rs_121917773	1 SubmittersRCV002251326
NM_003361.4(UMOD):c.817G>T (p.Val273Phe)	SNV Germline	Chr16:20348484	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1 Condition: not provided	Criteria Provided Single Submitter	CA256256	rs_121917774	2 SubmittersRCV002251327 RCV001566754
NM_003361.4(UMOD):c.649T>G (p.Cys217Gly)	SNV Germline	Chr16:20348652	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA261112	rs_28934583	1 SubmittersRCV002251328
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile)	SNV Germline	Chr16:20337383	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA216150	rs_188709583	4 SubmittersRCV000054630 RCV002483075
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)	SNV Germline	Chr16:20336705	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA216153	rs_387907549	4 SubmittersRCV000054631 RCV002496729
NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)	SNV Germline	Chr16:20348558	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA264233	rs_398122388	1 SubmittersRCV002251329
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)	SNV Germline	Chr16:20348984	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder	Criteria Provided Conflicting Classifications	CA221976	rs_398123697	10 SubmittersRCV000681797 RCV002251330 RCV004528290
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)	SNV Germline	Chr16:20341262	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder	Criteria Provided Conflicting Classifications	CA247170	rs_143583842	6 SubmittersRCV000179856 RCV002251335 RCV004539688
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)	SNV Germline	Chr16:20348557	Pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10605900	rs_886043751	4 SubmittersRCV000406147 RCV002251342 RCV004535399
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)	SNV Germline	Chr16:20349117	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder	Criteria Provided Conflicting Classifications	CA7939482	rs_143248111	6 SubmittersRCV001245586 RCV002251364 RCV004537795
NM_003361.4(UMOD):c.1623G>T (p.Gly541=)	SNV Germline	Chr16:20337408	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7939076	rs_562726925	4 SubmittersRCV002251352 RCV004544569 RCV002520991
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn)	SNV Germline	Chr16:20336726	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7939034	rs_143641292	6 SubmittersRCV002251351 RCV004021646 RCV002520990
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp)	SNV Germline	Chr16:20341293	Conflicting classifications of pathogenicity	UMOD-related disorder Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939160	rs_139607138	4 SubmittersRCV004544570 RCV000964011 RCV002251356
NM_003361.4(UMOD):c.490G>T (p.Glu164Ter)	SNV Germline	Chr16:20348811	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA16040624	rs_1057515585	1 SubmittersRCV002251368
NM_003361.4(UMOD):c.587A>G (p.Asp196Gly)	SNV Germline	Chr16:20348714	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA16609397	rs_1060499657	1 SubmittersRCV002251369
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)	SNV Germline	Chr16:20348753	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA16620080	rs_1064796542	3 SubmittersRCV000482915 RCV002272254
NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp)	SNV Unknown	Chr16:20341205	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA394982385	rs_1555486021	1 SubmittersRCV002251371
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)	SNV Germline	Chr16:20348249	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394983705	rs_1555487318	2 SubmittersRCV002251372
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)	SNV Germline	Chr16:20348247	Pathogenic/Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394983698	rs_1555487316	2 SubmittersRCV002251373
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser)	SNV Germline	Chr16:20349071	Likely pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394987202	rs_121917768	2 SubmittersRCV000517284 RCV005018887
NM_003361.4(UMOD):c.358T>G (p.Cys120Gly)	SNV Germline	Chr16:20348943	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394986277	rs_1555487621	1 SubmittersRCV002251374
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)	SNV Germline	Chr16:20348594	Pathogenic/Likely pathogenic	Inborn genetic diseases Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394985022	rs_1447458978	5 SubmittersRCV000624817 RCV002499013 RCV004527688 RCV001268265
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)	SNV Germline	Chr16:20348673	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA394985270	rs_1567309965	3 SubmittersRCV000681766 RCV005019173
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)	SNV Germline	Chr16:20348527	Likely pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394984546	rs_1567309582	2 SubmittersRCV000681859 RCV002251376
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)	SNV Germline	Chr16:20349104	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA394987488	rs_1567311288	6 SubmittersRCV000681880 RCV002251377
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)	SNV Germline	Chr16:20348691	Pathogenic/Likely pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394985329	rs_1567310019	3 SubmittersRCV000714155 RCV002499299
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)	SNV Germline	Chr16:20348748	Pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394985492	rs_1567310155	3 SubmittersRCV000714154 RCV002493270
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)	SNV Germline	Chr16:20348768	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA394985570	rs_1228791562	5 SubmittersRCV000714153 RCV003133574
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr)	SNV Unknown	Chr16:20348306	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394983909	rs_1596560944	1 SubmittersRCV002251381
NM_003361.4(UMOD):c.651C>G (p.Cys217Trp)	SNV Germline	Chr16:20348650	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394985206	rs_1596561934	1 SubmittersRCV002251382
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	SNV Germline	Chr16:20348984	Pathogenic/Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394986605	rs_398123697	8 SubmittersRCV002251383 RCV001328229 RCV004597943
NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn)	SNV Germline	Chr16:20344067	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939211	rs_200394184	2 SubmittersRCV002251385
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys)	SNV Germline	Chr16:20344112	Conflicting classifications of pathogenicity	Chronic kidney disease Familial juvenile hyperuricemic nephropathy type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7939222	rs_758221597	4 SubmittersRCV001171321 RCV002251386 RCV005243472
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp)	SNV Germline	Chr16:20346185	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1 UMOD-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7939296	rs_373609971	5 SubmittersRCV002251387 RCV004538338 RCV002556280 RCV005503014
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp)	SNV Germline	Chr16:20348909	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939454	rs_368943553	4 SubmittersRCV001481364 RCV002558199 RCV002251400
NM_003361.4(UMOD):c.973+7C>T	SNV Germline	Chr16:20348216	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1 Kidney disorder Condition: not provided UMOD-related disorder	Criteria Provided Conflicting Classifications	CA7939348	rs_557659943	5 SubmittersRCV002251392 RCV002294444 RCV002069893 RCV004538342
NM_003361.4(UMOD):c.552G>C (p.Trp184Cys)	SNV Unknown	Chr16:20348749	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394985498	rs_1965732404	1 SubmittersRCV002251402
NM_003361.4(UMOD):c.189C>G (p.Cys63Trp)	SNV Germline	Chr16:20349112	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394987548	rs_1199326518	1 SubmittersRCV002251403
NM_003361.4(UMOD):c.150C>G (p.Cys50Trp)	SNV Unknown	Chr16:20349151	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394987855	rs_1965764292	1 SubmittersRCV002251404
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)	SNV Germline	Chr16:20348447	Pathogenic	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394984068	rs_766919534	3 SubmittersRCV001328181 RCV002541644 RCV005014324
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)	SNV Germline	Chr16:20349052	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394987043	rs_1449715458	2 SubmittersRCV002251405
NM_003361.4(UMOD):c.444T>G (p.Cys148Trp)	SNV Germline	Chr16:20348857	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA394985947	rs_1965741911	1 SubmittersRCV002251407
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)	SNV Germline	Chr16:20348715	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394985384	rs_1965729129	2 SubmittersRCV002251408
NM_003361.4(UMOD):c.742T>C (p.Cys248Arg)	SNV Unknown	Chr16:20348559	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA394984811	rs_1965716874	1 SubmittersRCV002251409
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)	SNV Germline	Chr16:20348543	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939411	rs_760253448	3 SubmittersRCV001355988 RCV002499714
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn)	SNV Germline	Chr16:20348871	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7939448	rs_769398465	3 SubmittersRCV001363496 RCV002488112 RCV005298817
NM_003361.4(UMOD):c.1196A>G (p.His399Arg)	SNV Germline	Chr16:20344159	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394982999	rs_1596552335	1 SubmittersRCV002251411
NM_003361.4(UMOD):c.203A>T (p.Glu68Val)	SNV Germline	Chr16:20349098	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394987412	rs_2141676976	1 SubmittersRCV002251410
NM_003361.4(UMOD):c.281G>C (p.Cys94Ser)	SNV Germline	Chr16:20349020	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA394986819	rs_2141676533	1 SubmittersRCV002251414
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr)	SNV Germline	Chr16:20348966	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394986458	rs_2141676232	2 SubmittersRCV002251418
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys)	SNV Germline	Chr16:20348493	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394984317	rs_781101544	2 SubmittersRCV002251421
NM_003361.4(UMOD):c.280T>C (p.Cys94Arg)	SNV Germline	Chr16:20349021	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA394986832	rs_2141676543	1 SubmittersRCV002251595
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)	SNV Germline	Chr16:20341286	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1 Condition: not provided Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	Criteria Provided Multiple Submitters No Conflicts	CA394982546	rs_780475918	4 SubmittersRCV002251596 RCV003222351 RCV005250201
NM_003361.4(UMOD):c.599G>A (p.Arg200His)	SNV Germline	Chr16:20348702	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA279299797	rs_940287917	3 SubmittersRCV002012063 RCV004043849 RCV002492089
NM_003361.4(UMOD):c.990G>A (p.Glu330=)	SNV Germline	Chr16:20346318	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939320	rs_200665026	2 SubmittersRCV002007232 RCV005006304
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp)	SNV Germline	Chr16:20349038	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA394986944	rs_2141676609	2 SubmittersRCV002251604
NM_003361.4(UMOD):c.313G>T (p.Gly105Cys)	SNV Germline	Chr16:20348988	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394986631	rs_747592262	1 SubmittersRCV002251605
NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)	SNV Germline	Chr16:20349129	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939483	rs_748228253	3 SubmittersRCV002289275
NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)	SNV Germline	Chr16:20348943	Likely pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394986280	rs_1555487621	2 SubmittersRCV003022742 RCV005010874
NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)	SNV Germline	Chr16:20349025	Pathogenic	not specified Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394986854	rs_2507390389	2 SubmittersRCV003151685 RCV003236598
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)	SNV Germline	Chr16:20341176	Conflicting classifications of pathogenicity	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939124	rs_368993197	2 SubmittersRCV003152880
NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)	SNV Unknown	Chr16:20349126	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394987722	rs_2507391033	1 SubmittersRCV003153109
NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)	SNV Germline	Chr16:20349208	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA394965772	rs_2507391645	1 SubmittersRCV003334085
NM_003361.4(UMOD):c.106C>T (p.His36Tyr)	SNV Germline	Chr16:20349195	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	No Assertion Criteria Provided	CA394965703	rs_2507391567	1 SubmittersRCV003334086
NM_003361.4(UMOD):c.610C>T (p.Arg204Cys)	SNV Germline	Chr16:20348691	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394985328	rs_1567310019	1 SubmittersRCV003494532
NM_003361.4(UMOD):c.706C>A (p.Pro236Thr)	SNV Germline	Chr16:20348595	Likely pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394985031	rs_2507386812	2 SubmittersRCV003544325 RCV005254818
NM_003361.4(UMOD):c.1458C>A (p.Tyr486Ter)	SNV Germline	Chr16:20341210	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939137	rs_141800038	2 SubmittersRCV003573254 RCV005014761
NM_003361.4(UMOD):c.172G>T (p.Gly58Cys)	SNV Germline	Chr16:20349129	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA394987735	rs_748228253	2 SubmittersRCV003559907 RCV005014774
NM_003361.4(UMOD):c.1544C>T (p.Thr515Met)	SNV Germline	Chr16:20341124	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939113	rs_550521976	3 SubmittersRCV003826630 RCV004968488 RCV005015005
NM_003361.4(UMOD):c.637A>C (p.Met213Leu)	SNV Germline	Chr16:20348664	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications	CA7939425	rs_746289589	3 SubmittersRCV003855056 RCV004968521 RCV005013248
NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)	SNV Germline	Chr16:20348613	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394985098	rs_1567309813	1 SubmittersRCV003883389
NM_003361.4(UMOD):c.359G>T (p.Cys120Phe)	SNV Germline	Chr16:20348942	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter	CA394986273	rs_1322587342	1 SubmittersRCV003991139
NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)	SNV Germline	Chr16:20348534	Likely pathogenic	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Multiple Submitters No Conflicts	CA394984597	rs_2507386350	2 SubmittersRCV005103173 RCV003991265
NM_003361.4(UMOD):c.248G>T (p.Cys83Phe)	SNV Germline	Chr16:20349053	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter		rs_2507390595	1 SubmittersRCV004584158
NM_003361.4(UMOD):c.707C>G (p.Pro236Arg)	SNV Germline	Chr16:20348594	Pathogenic/Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1447458978	3 SubmittersRCV004595270 RCV005412670
NM_003361.4(UMOD):c.891T>G (p.Cys297Trp)	SNV Germline	Chr16:20348305	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter		rs_2507384602	1 SubmittersRCV004595290
NM_003361.4(UMOD):c.583T>C (p.Cys195Arg)	SNV Germline	Chr16:20348718	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV004598371
NM_003361.4(UMOD):c.667T>A (p.Cys223Ser)	SNV Germline	Chr16:20348634	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV004598419
NM_003361.4(UMOD):c.601G>T (p.Gly201Cys)	SNV Germline	Chr16:20348700	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV004598421
NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)	SNV Germline	Chr16:20349147	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV004698934
NM_003361.4(UMOD):c.611G>A (p.Arg204His)	SNV Germline	Chr16:20348690	Conflicting classifications of pathogenicity	Condition: not provided Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004726185 RCV005017226
NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)	SNV Germline	Chr16:20349053	Likely pathogenic	UMOD-related disorder Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			2 SubmittersRCV004740827 RCV005017254
NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)	SNV Germline	Chr16:20348307	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005013903
NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)	SNV Germline	Chr16:20348441	Pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019803
NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)	SNV Germline	Chr16:20348568	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019804
NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)	SNV Germline	Chr16:20348613	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005013908
NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)	SNV Germline	Chr16:20348747	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019807
NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)	SNV Germline	Chr16:20348748	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005013911
NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)	SNV Germline	Chr16:20348791	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005013913
NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)	SNV Germline	Chr16:20348820	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019811
NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)	SNV Germline	Chr16:20348837	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005013914
NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)	SNV Germline	Chr16:20348897	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019814
NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)	SNV Germline	Chr16:20349047	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019817
NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)	SNV Germline	Chr16:20349113	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019819
NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)	SNV Germline	Chr16:20349208	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005019823
NM_003361.4(UMOD):c.314G>A (p.Gly105Asp)	SNV Germline	Chr16:20348987	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter		rs_1162633293	1 SubmittersRCV005255069
NM_003361.4(UMOD):c.916T>G (p.Cys306Gly)	SNV Germline	Chr16:20348280	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005403782
NM_003361.4(UMOD):c.606G>C (p.Trp202Cys)	SNV Germline	Chr16:20348695	Likely pathogenic	Familial juvenile hyperuricemic nephropathy type 1	Criteria Provided Single Submitter			1 SubmittersRCV005413218

NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr)

SNV
Germline

Chr16:20348858

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided

Criteria Provided
Single Submitter

CA256238

rs_28934582

2 SubmittersRCV002251318 RCV002513003

NM_003361.4(UMOD):c.649T>C (p.Cys217Arg)

SNV
Germline

Chr16:20348652

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA256240

rs_28934583

1 SubmittersRCV002251319

NM_003361.4(UMOD):c.307G>T (p.Gly103Cys)

SNV
Germline

Chr16:20348994

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder

Criteria Provided
Single Submitter

CA256242

rs_28934584

2 SubmittersRCV002251320 RCV004528105

NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr)

SNV
Germline

Chr16:20349071

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA256244

rs_121917768

1 SubmittersRCV002251321

NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)

SNV
Germline

Chr16:20348925

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA256246

rs_121917769

2 SubmittersRCV002251322

NM_003361.4(UMOD):c.383A>G (p.Asn128Ser)

SNV
Germline

Chr16:20348918

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA256248

rs_121917770

1 SubmittersRCV002251323

NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr)

SNV
Germline

Chr16:20348537

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA256250

rs_121917771

1 SubmittersRCV002251324

NM_003361.4(UMOD):c.898T>G (p.Cys300Gly)

SNV
Germline

Chr16:20348298

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA256252

rs_121917772

1 SubmittersRCV002251325

NM_003361.4(UMOD):c.943T>C (p.Cys315Arg)

SNV
Germline

Chr16:20348253

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA256254

rs_121917773

1 SubmittersRCV002251326

NM_003361.4(UMOD):c.817G>T (p.Val273Phe)

SNV
Germline

Chr16:20348484

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided

Criteria Provided
Single Submitter

CA256256

rs_121917774

2 SubmittersRCV002251327 RCV001566754

NM_003361.4(UMOD):c.649T>G (p.Cys217Gly)

SNV
Germline

Chr16:20348652

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA261112

rs_28934583

1 SubmittersRCV002251328

NM_003361.4(UMOD):c.1648G>A (p.Val550Ile)

SNV
Germline

Chr16:20337383

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA216150

rs_188709583

4 SubmittersRCV000054630 RCV002483075

NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)

SNV
Germline

Chr16:20336705

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA216153

rs_387907549

4 SubmittersRCV000054631 RCV002496729

NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)

SNV
Germline

Chr16:20348558

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA264233

rs_398122388

1 SubmittersRCV002251329

NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)

SNV
Germline

Chr16:20348984

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder

Criteria Provided
Conflicting Classifications

CA221976

rs_398123697

10 SubmittersRCV000681797 RCV002251330 RCV004528290

NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)

SNV
Germline

Chr16:20341262

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder

Criteria Provided
Conflicting Classifications

CA247170

rs_143583842

6 SubmittersRCV000179856 RCV002251335 RCV004539688

NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)

SNV
Germline

Chr16:20348557

Pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10605900

rs_886043751

4 SubmittersRCV000406147 RCV002251342 RCV004535399

NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)

SNV
Germline

Chr16:20349117

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder

Criteria Provided
Conflicting Classifications

CA7939482

rs_143248111

6 SubmittersRCV001245586 RCV002251364 RCV004537795

NM_003361.4(UMOD):c.1623G>T (p.Gly541=)

SNV
Germline

Chr16:20337408

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7939076

rs_562726925

4 SubmittersRCV002251352 RCV004544569 RCV002520991

NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn)

SNV
Germline

Chr16:20336726

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7939034

rs_143641292

6 SubmittersRCV002251351 RCV004021646 RCV002520990

NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp)

SNV
Germline

Chr16:20341293

Conflicting classifications of pathogenicity

UMOD-related disorder
Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939160

rs_139607138

4 SubmittersRCV004544570 RCV000964011 RCV002251356

NM_003361.4(UMOD):c.490G>T (p.Glu164Ter)

SNV
Germline

Chr16:20348811

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA16040624

rs_1057515585

1 SubmittersRCV002251368

NM_003361.4(UMOD):c.587A>G (p.Asp196Gly)

SNV
Germline

Chr16:20348714

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA16609397

rs_1060499657

1 SubmittersRCV002251369

NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)

SNV
Germline

Chr16:20348753

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA16620080

rs_1064796542

3 SubmittersRCV000482915 RCV002272254

NM_003361.4(UMOD):c.1463G>A (p.Gly488Asp)

SNV
Unknown

Chr16:20341205

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA394982385

rs_1555486021

1 SubmittersRCV002251371

NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)

SNV
Germline

Chr16:20348249

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394983705

rs_1555487318

2 SubmittersRCV002251372

NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)

SNV
Germline

Chr16:20348247

Pathogenic/Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394983698

rs_1555487316

2 SubmittersRCV002251373

NM_003361.4(UMOD):c.230G>C (p.Cys77Ser)

SNV
Germline

Chr16:20349071

Likely pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394987202

rs_121917768

2 SubmittersRCV000517284 RCV005018887

NM_003361.4(UMOD):c.358T>G (p.Cys120Gly)

SNV
Germline

Chr16:20348943

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394986277

rs_1555487621

1 SubmittersRCV002251374

NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)

SNV
Germline

Chr16:20348594

Pathogenic/Likely pathogenic

Inborn genetic diseases
Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394985022

rs_1447458978

5 SubmittersRCV000624817 RCV002499013 RCV004527688 RCV001268265

NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)

SNV
Germline

Chr16:20348673

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA394985270

rs_1567309965

3 SubmittersRCV000681766 RCV005019173

NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)

SNV
Germline

Chr16:20348527

Likely pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394984546

rs_1567309582

2 SubmittersRCV000681859 RCV002251376

NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)

SNV
Germline

Chr16:20349104

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA394987488

rs_1567311288

6 SubmittersRCV000681880 RCV002251377

NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)

SNV
Germline

Chr16:20348691

Pathogenic/Likely pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394985329

rs_1567310019

3 SubmittersRCV000714155 RCV002499299

NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)

SNV
Germline

Chr16:20348748

Pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394985492

rs_1567310155

3 SubmittersRCV000714154 RCV002493270

NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)

SNV
Germline

Chr16:20348768

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA394985570

rs_1228791562

5 SubmittersRCV000714153 RCV003133574

NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr)

SNV
Unknown

Chr16:20348306

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394983909

rs_1596560944

1 SubmittersRCV002251381

NM_003361.4(UMOD):c.651C>G (p.Cys217Trp)

SNV
Germline

Chr16:20348650

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394985206

rs_1596561934

1 SubmittersRCV002251382

NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)

SNV
Germline

Chr16:20348984

Pathogenic/Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394986605

rs_398123697

8 SubmittersRCV002251383 RCV001328229 RCV004597943

NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn)

SNV
Germline

Chr16:20344067

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939211

rs_200394184

2 SubmittersRCV002251385

NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys)

SNV
Germline

Chr16:20344112

Conflicting classifications of pathogenicity

Chronic kidney disease
Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7939222

rs_758221597

4 SubmittersRCV001171321 RCV002251386 RCV005243472

NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp)

SNV
Germline

Chr16:20346185

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7939296

rs_373609971

5 SubmittersRCV002251387 RCV004538338 RCV002556280 RCV005503014

NM_003361.4(UMOD):c.392G>A (p.Gly131Asp)

SNV
Germline

Chr16:20348909

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939454

rs_368943553

4 SubmittersRCV001481364 RCV002558199 RCV002251400

NM_003361.4(UMOD):c.973+7C>T

SNV
Germline

Chr16:20348216

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1
Kidney disorder
Condition: not provided
UMOD-related disorder

Criteria Provided
Conflicting Classifications

CA7939348

rs_557659943

5 SubmittersRCV002251392 RCV002294444 RCV002069893 RCV004538342

NM_003361.4(UMOD):c.552G>C (p.Trp184Cys)

SNV
Unknown

Chr16:20348749

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394985498

rs_1965732404

1 SubmittersRCV002251402

NM_003361.4(UMOD):c.189C>G (p.Cys63Trp)

SNV
Germline

Chr16:20349112

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394987548

rs_1199326518

1 SubmittersRCV002251403

NM_003361.4(UMOD):c.150C>G (p.Cys50Trp)

SNV
Unknown

Chr16:20349151

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394987855

rs_1965764292

1 SubmittersRCV002251404

NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)

SNV
Germline

Chr16:20348447

Pathogenic

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394984068

rs_766919534

3 SubmittersRCV001328181 RCV002541644 RCV005014324

NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)

SNV
Germline

Chr16:20349052

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394987043

rs_1449715458

2 SubmittersRCV002251405

NM_003361.4(UMOD):c.444T>G (p.Cys148Trp)

SNV
Germline

Chr16:20348857

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA394985947

rs_1965741911

1 SubmittersRCV002251407

NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)

SNV
Germline

Chr16:20348715

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394985384

rs_1965729129

2 SubmittersRCV002251408

NM_003361.4(UMOD):c.742T>C (p.Cys248Arg)

SNV
Unknown

Chr16:20348559

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA394984811

rs_1965716874

1 SubmittersRCV002251409

NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)

SNV
Germline

Chr16:20348543

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939411

rs_760253448

3 SubmittersRCV001355988 RCV002499714

NM_003361.4(UMOD):c.430G>A (p.Asp144Asn)

SNV
Germline

Chr16:20348871

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7939448

rs_769398465

3 SubmittersRCV001363496 RCV002488112 RCV005298817

NM_003361.4(UMOD):c.1196A>G (p.His399Arg)

SNV
Germline

Chr16:20344159

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394982999

rs_1596552335

1 SubmittersRCV002251411

NM_003361.4(UMOD):c.203A>T (p.Glu68Val)

SNV
Germline

Chr16:20349098

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394987412

rs_2141676976

1 SubmittersRCV002251410

NM_003361.4(UMOD):c.281G>C (p.Cys94Ser)

SNV
Germline

Chr16:20349020

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA394986819

rs_2141676533

1 SubmittersRCV002251414

NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr)

SNV
Germline

Chr16:20348966

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394986458

rs_2141676232

2 SubmittersRCV002251418

NM_003361.4(UMOD):c.808G>T (p.Gly270Cys)

SNV
Germline

Chr16:20348493

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394984317

rs_781101544

2 SubmittersRCV002251421

NM_003361.4(UMOD):c.280T>C (p.Cys94Arg)

SNV
Germline

Chr16:20349021

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA394986832

rs_2141676543

1 SubmittersRCV002251595

NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)

SNV
Germline

Chr16:20341286

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394982546

rs_780475918

4 SubmittersRCV002251596 RCV003222351 RCV005250201

NM_003361.4(UMOD):c.599G>A (p.Arg200His)

SNV
Germline

Chr16:20348702

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA279299797

rs_940287917

3 SubmittersRCV002012063 RCV004043849 RCV002492089

NM_003361.4(UMOD):c.990G>A (p.Glu330=)

SNV
Germline

Chr16:20346318

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939320

rs_200665026

2 SubmittersRCV002007232 RCV005006304

NM_003361.4(UMOD):c.263G>A (p.Gly88Asp)

SNV
Germline

Chr16:20349038

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA394986944

rs_2141676609

2 SubmittersRCV002251604

NM_003361.4(UMOD):c.313G>T (p.Gly105Cys)

SNV
Germline

Chr16:20348988

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394986631

rs_747592262

1 SubmittersRCV002251605

NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)

SNV
Germline

Chr16:20349129

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939483

rs_748228253

3 SubmittersRCV002289275

NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)

SNV
Germline

Chr16:20348943

Likely pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394986280

rs_1555487621

2 SubmittersRCV003022742 RCV005010874

NM_003361.4(UMOD):c.276C>G (p.Cys92Trp)

SNV
Germline

Chr16:20349025

Pathogenic

not specified
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394986854

rs_2507390389

2 SubmittersRCV003151685 RCV003236598

NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)

SNV
Germline

Chr16:20341176

Conflicting classifications of pathogenicity

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939124

rs_368993197

2 SubmittersRCV003152880

NM_003361.4(UMOD):c.175G>T (p.Asp59Tyr)

SNV
Unknown

Chr16:20349126

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394987722

rs_2507391033

1 SubmittersRCV003153109

NM_003361.4(UMOD):c.93G>C (p.Trp31Cys)

SNV
Germline

Chr16:20349208

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA394965772

rs_2507391645

1 SubmittersRCV003334085

NM_003361.4(UMOD):c.106C>T (p.His36Tyr)

SNV
Germline

Chr16:20349195

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

No Assertion Criteria Provided

CA394965703

rs_2507391567

1 SubmittersRCV003334086

NM_003361.4(UMOD):c.610C>T (p.Arg204Cys)

SNV
Germline

Chr16:20348691

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394985328

rs_1567310019

1 SubmittersRCV003494532

NM_003361.4(UMOD):c.706C>A (p.Pro236Thr)

SNV
Germline

Chr16:20348595

Likely pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394985031

rs_2507386812

2 SubmittersRCV003544325 RCV005254818

NM_003361.4(UMOD):c.1458C>A (p.Tyr486Ter)

SNV
Germline

Chr16:20341210

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939137

rs_141800038

2 SubmittersRCV003573254 RCV005014761

NM_003361.4(UMOD):c.172G>T (p.Gly58Cys)

SNV
Germline

Chr16:20349129

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA394987735

rs_748228253

2 SubmittersRCV003559907 RCV005014774

NM_003361.4(UMOD):c.1544C>T (p.Thr515Met)

SNV
Germline

Chr16:20341124

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939113

rs_550521976

3 SubmittersRCV003826630 RCV004968488 RCV005015005

NM_003361.4(UMOD):c.637A>C (p.Met213Leu)

SNV
Germline

Chr16:20348664

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

CA7939425

rs_746289589

3 SubmittersRCV003855056 RCV004968521 RCV005013248

NM_003361.4(UMOD):c.688T>A (p.Trp230Arg)

SNV
Germline

Chr16:20348613

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394985098

rs_1567309813

1 SubmittersRCV003883389

NM_003361.4(UMOD):c.359G>T (p.Cys120Phe)

SNV
Germline

Chr16:20348942

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

CA394986273

rs_1322587342

1 SubmittersRCV003991139

NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)

SNV
Germline

Chr16:20348534

Likely pathogenic

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394984597

rs_2507386350

2 SubmittersRCV005103173 RCV003991265

NM_003361.4(UMOD):c.248G>T (p.Cys83Phe)

SNV
Germline

Chr16:20349053

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

rs_2507390595

1 SubmittersRCV004584158

NM_003361.4(UMOD):c.707C>G (p.Pro236Arg)

SNV
Germline

Chr16:20348594

Pathogenic/Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1447458978

3 SubmittersRCV004595270 RCV005412670

NM_003361.4(UMOD):c.891T>G (p.Cys297Trp)

SNV
Germline

Chr16:20348305

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

rs_2507384602

1 SubmittersRCV004595290

NM_003361.4(UMOD):c.583T>C (p.Cys195Arg)

SNV
Germline

Chr16:20348718

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004598371

NM_003361.4(UMOD):c.667T>A (p.Cys223Ser)

SNV
Germline

Chr16:20348634

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004598419

NM_003361.4(UMOD):c.601G>T (p.Gly201Cys)

SNV
Germline

Chr16:20348700

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004598421

NM_003361.4(UMOD):c.154T>G (p.Cys52Gly)

SNV
Germline

Chr16:20349147

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004698934

NM_003361.4(UMOD):c.611G>A (p.Arg204His)

SNV
Germline

Chr16:20348690

Conflicting classifications of pathogenicity

Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004726185 RCV005017226

NM_003361.4(UMOD):c.248G>A (p.Cys83Tyr)

SNV
Germline

Chr16:20349053

Likely pathogenic

UMOD-related disorder
Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

2 SubmittersRCV004740827 RCV005017254

NM_003361.4(UMOD):c.889T>C (p.Cys297Arg)

SNV
Germline

Chr16:20348307

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005013903

NM_003361.4(UMOD):c.860G>A (p.Cys287Tyr)

SNV
Germline

Chr16:20348441

Pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019803

NM_003361.4(UMOD):c.733C>T (p.Arg245Cys)

SNV
Germline

Chr16:20348568

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019804

NM_003361.4(UMOD):c.688T>C (p.Trp230Arg)

SNV
Germline

Chr16:20348613

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005013908

NM_003361.4(UMOD):c.554G>C (p.Arg185Pro)

SNV
Germline

Chr16:20348747

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019807

NM_003361.4(UMOD):c.553C>G (p.Arg185Gly)

SNV
Germline

Chr16:20348748

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005013911

NM_003361.4(UMOD):c.510C>G (p.Cys170Trp)

SNV
Germline

Chr16:20348791

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005013913

NM_003361.4(UMOD):c.481T>C (p.Cys161Arg)

SNV
Germline

Chr16:20348820

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019811

NM_003361.4(UMOD):c.464G>C (p.Cys155Ser)

SNV
Germline

Chr16:20348837

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005013914

NM_003361.4(UMOD):c.404G>T (p.Cys135Phe)

SNV
Germline

Chr16:20348897

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019814

NM_003361.4(UMOD):c.254A>T (p.Asn85Ile)

SNV
Germline

Chr16:20349047

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019817

NM_003361.4(UMOD):c.188G>C (p.Cys63Ser)

SNV
Germline

Chr16:20349113

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019819

NM_003361.4(UMOD):c.93G>T (p.Trp31Cys)

SNV
Germline

Chr16:20349208

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005019823

NM_003361.4(UMOD):c.314G>A (p.Gly105Asp)

SNV
Germline

Chr16:20348987

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

rs_1162633293

1 SubmittersRCV005255069

NM_003361.4(UMOD):c.916T>G (p.Cys306Gly)

SNV
Germline

Chr16:20348280

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005403782

NM_003361.4(UMOD):c.606G>C (p.Trp202Cys)

SNV
Germline

Chr16:20348695

Likely pathogenic

Familial juvenile hyperuricemic nephropathy type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005413218