Total 74 pathogenic variants reported for Familial juvenile hyperuricemic nephropathy type 1 
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 SubmittersRCV002251318RCV002513003
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 SubmittersRCV002251320RCV004528105
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 Likely 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 Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1		 Criteria Provided
Single Submitter
 CA256256 rs_121917774

2 SubmittersRCV001566754RCV002251327
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.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

3 SubmittersRCV000054631RCV002496729
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 SubmittersRCV000681797RCV002251330RCV004528290
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 SubmittersRCV000179856RCV002251335RCV004539688
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 SubmittersRCV000406147RCV002251342RCV004535399
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

4 SubmittersRCV001245586RCV002251364RCV004537795
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) SNV
Germline		 Chr16:20336726 Conflicting classifications of pathogenicity Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7939034 rs_143641292

4 SubmittersRCV002520990RCV002251351RCV004021646
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp) SNV
Germline		 Chr16:20341293 Conflicting classifications of pathogenicity Condition: not provided
UMOD-related disorder
Familial juvenile hyperuricemic nephropathy type 1		 Criteria Provided
Conflicting Classifications
 CA7939160 rs_139607138

4 SubmittersRCV000964011RCV004544570RCV002251356
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 SubmittersRCV000482915RCV002272254
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.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
Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1
UMOD-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394985022 rs_1447458978

4 SubmittersRCV000624817RCV001268265RCV002499013RCV004527688
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
 rs_1567309582

2 SubmittersRCV000681859RCV002251376
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
 rs_1567311288

5 SubmittersRCV000681880RCV002251377
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
 rs_1567310019

3 SubmittersRCV000714155RCV002499299
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
 rs_1567310155

3 SubmittersRCV000714154RCV002493270
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
 rs_1228791562

4 SubmittersRCV000714153RCV003133574
NM_003361.4(UMOD):c.286G>T (p.Glu96Ter) SNV
Germline		 Chr16:20349015 Conflicting classifications of pathogenicity Condition: not provided
Familial juvenile hyperuricemic nephropathy type 1		 No Assertion Criteria Provided
 rs_1357689052

2 SubmittersRCV000722306RCV002251378
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr) SNV
Unknown		 Chr16:20348306 Pathogenic Familial juvenile hyperuricemic nephropathy type 1 Criteria Provided
Single Submitter
 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
 rs_1596561934

1 SubmittersRCV002251382
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) SNV
Germline		 Chr16:20348984 Pathogenic/Likely pathogenic Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Familial juvenile hyperuricemic nephropathy type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_398123697

7 SubmittersRCV001328229RCV002251383
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		 Criteria Provided
Conflicting Classifications
 rs_758221597

2 SubmittersRCV001171321RCV002251386
NM_003361.4(UMOD):c.1123C>T (p.Arg375Trp) SNV
Germline		 Chr16:20346185 Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided
UMOD-related disorder		 Criteria Provided
Conflicting Classifications
 rs_373609971

3 SubmittersRCV002251387RCV002556280RCV004538338
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
 rs_368943553

4 SubmittersRCV001481364RCV002558199RCV002251400
NM_003361.4(UMOD):c.973+7C>T SNV
Germline		 Chr16:20348216 Conflicting classifications of pathogenicity Kidney disorder
Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided
UMOD-related disorder		 Criteria Provided
Conflicting Classifications
 rs_557659943

5 SubmittersRCV002294444RCV002251392RCV002069893RCV004538342
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
 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
 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
 rs_1965764292

1 SubmittersRCV002251404
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
 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
 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
 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
 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
 rs_760253448

3 SubmittersRCV001355988RCV002499714
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		 Criteria Provided
Conflicting Classifications
 rs_769398465

2 SubmittersRCV001363496RCV002488112
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
 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
 rs_2141676976

1 SubmittersRCV002251410
NM_003361.4(UMOD):c.283C>T (p.Pro95Ser) SNV
Germline		 Chr16:20349018 Pathogenic Familial juvenile hyperuricemic nephropathy type 1 No Assertion Criteria Provided
 rs_2141676523

1 SubmittersRCV002251413
NM_003361.4(UMOD):c.281G>C (p.Cys94Ser) SNV
Germline		 Chr16:20349020 Pathogenic Familial juvenile hyperuricemic nephropathy type 1 No Assertion Criteria Provided
 rs_2141676533

1 SubmittersRCV002251414
NM_003361.4(UMOD):c.280T>G (p.Cys94Gly) SNV
Germline		 Chr16:20349021 Pathogenic Familial juvenile hyperuricemic nephropathy type 1 No Assertion Criteria Provided
 rs_2141676543

1 SubmittersRCV002251415
NM_003361.4(UMOD):c.278T>C (p.Val93Ala) SNV
Germline		 Chr16:20349023 Pathogenic Familial juvenile hyperuricemic nephropathy type 1 No Assertion Criteria Provided
 rs_2141676565

1 SubmittersRCV002251416
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
 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
 rs_2141676543

1 SubmittersRCV002251595
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) SNV
Germline		 Chr16:20341286 Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_780475918

3 SubmittersRCV002251596RCV003222351
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) SNV
Germline		 Chr16:20349038 Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 Criteria Provided
Single Submitter
 rs_2141676609

1 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
 rs_747592262

1 SubmittersRCV002251605
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

2 SubmittersRCV003151685RCV003236598
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter) SNV
Unknown		 Chr16:20341176 Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 Criteria Provided
Single Submitter

1 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

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

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

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

1 SubmittersRCV003494532
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

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

1 SubmittersRCV003991139
NM_003361.4(UMOD):c.767G>C (p.Cys256Ser) SNV
Germline		 Chr16:20348534 Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1 Criteria Provided
Single Submitter

1 SubmittersRCV003991265
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

1 SubmittersRCV004584158