UMOD (Uromodulin) variants and mutations
UMOD (also known as Uromodulin) is a human protein-coding gene encoding an uromodulin protein. It is secreted by thick-ascending-limb cells into urine, where it contributes to salt handling, urinary defense, and protection against kidney stones. Dominant pathogenic variants cause autosomal dominant tubulointerstitial kidney disease, while common regulatory variants influence kidney-function and hypertension risk. This analysis covers 1,323 UMOD variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes familial juvenile hyperuricemic nephropathy type 1, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, and chronic kidney disease. Example UMOD variants include M1?, G2V, and Q3*.
Variant analysis overview
- Gene: UMOD
- Protein: Uromodulin
- UniProt accession: P07911
- Organism: Homo sapiens
- Variants analyzed: 1323
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,059 unspecified-consequence records; 2 stop lost; 1 stop retained variant; 125 missense variants; 109 synonymous variants; 4 stop-gained variants; 16 frameshift variants; 3 splice-region variants; 2 in-frame deletions; 2 substitution
- Prediction scores: 945 variants have prediction scores (71% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial juvenile hyperuricemic nephropathy type 1, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, chronic kidney disease, kidney failure, hypertensive disorder, essential hypertension, kidney disorder, nephrolithiasis, cystic kidney disease, anemia, urolithiasis, bladder calculus.
Protein structure and variant hotspots
- Protein features: 6 domains; 9 post-translational modification sites.
- Structural context: 1,072 variants have structural context.
- PTM context: 12 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable UMOD variants
Examples include M1?, G2V, Q3*, P4Q, P4S, P4T, S5T, L6P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV56776
- G2V (p.Gly2Val), Ensembl rs1555487932, REVEL 0.45, CADD 13.60
- Q3* (p.Gln3Ter), Ensembl rs1965850005
- P4Q (p.Pro4Gln), gnomAD rs1965849508, REVEL 0.19, CADD 9.79
- P4S (p.Pro4Ser), ExAC rs745885627, TOPMed rs745885627, REVEL 0.25, CADD 7.23
- P4T (p.Pro4Thr), ExAC rs745885627, TOPMed rs745885627, REVEL 0.21, CADD 11.30
- S5T (p.Ser5Thr), ExAC rs755992416, gnomAD rs755992416, REVEL 0.09, CADD 0.58
- L6P (p.Leu6Pro), Ensembl rs2141682256
- T7A (p.Thr7Ala), rs1352086874, ClinGen CA394967064, ClinVar RCV002733977, ClinVar RCV005011191, REVEL 0.26, CADD 0.07, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1; Inborn genetic diseases
- T7I (p.Thr7Ile), TOPMed rs1342672055, gnomAD rs1342672055, REVEL 0.34, CADD 8.69
- W8G (p.Trp8Gly), ExAC rs780815321, TOPMed rs780815321, gnomAD rs780815321
- W8R (p.Trp8Arg), ExAC rs780815321, TOPMed rs780815321, gnomAD rs780815321, REVEL 0.22, CADD 10.10
- M9I (p.Met9Ile), cosmic curated COSV10739
- L10V (p.Leu10Val), cosmic curated COSV56777
- M11I (p.Met11Ile), ExAC rs754723690, TOPMed rs754723690, gnomAD rs754723690, REVEL 0.18, CADD 2.33
- V12A (p.Val12Ala), cosmic curated COSV56780
- V13L (p.Val13Leu), rs762556085, ClinGen CA7939546, ClinVar RCV001295497, ClinVar RCV003284143, REVEL 0.19, CADD 0.00, Uncertain significance, not provided
- V13M (p.Val13Met), rs762556085, ClinGen CA394966988, ClinVar RCV002572154, ClinVar RCV004741300, REVEL 0.15, CADD 0.00, Uncertain significance, not provided; Inborn genetic diseases
- V14G (p.Val14Gly), Ensembl rs1596566262
- A15P (p.Ala15Pro), Ensembl rs1965847259
- A15S (p.Ala15Ser), Ensembl rs1965847259, REVEL 0.12, CADD 0.86
- S16T (p.Ser16Thr), ExAC rs749912886, TOPMed rs749912886, gnomAD rs749912886, REVEL 0.21, AlphaMissense 0.10, Uncertain significance
- W17* (p.Trp17Ter), TOPMed rs1421859547, gnomAD rs1421859547, CADD 33.00
- W17C (p.Trp17Cys), Ensembl rs1596566220
- W17R (p.Trp17Arg), TOPMed rs1965846703
- F18S (p.Phe18Ser), ExAC rs765894486, gnomAD rs765894486, REVEL 0.31, CADD 9.52
- I19T (p.Ile19Thr), ExAC rs762195993, gnomAD rs762195993, REVEL 0.20, CADD 3.31
- T21A (p.Thr21Ala), ESP rs372294954, ExAC rs372294954, TOPMed rs372294954, gnomAD rs372294954, REVEL 0.16, CADD 0.15
- T21P (p.Thr21Pro), ESP rs372294954, ExAC rs372294954, TOPMed rs372294954, gnomAD rs372294954
- T21S (p.Thr21Ser), ESP rs372294954, ExAC rs372294954, TOPMed rs372294954, gnomAD rs372294954, REVEL 0.13, CADD 6.27
- A22P (p.Ala22Pro), ExAC rs775696672, gnomAD rs775696672, REVEL 0.34, CADD 16.30
- D25G (p.Asp25Gly), rs148980017, ClinGen CA7939535, ClinVar RCV003579726, ESP rs148980017, REVEL 0.29, CADD 10.40, Likely benign, not provided
- D25N (p.Asp25Asn), rs772246118, ClinGen CA7939536, ClinVar RCV002644162, ExAC rs772246118, REVEL 0.17, CADD 0.73, Uncertain significance, not provided
- D25V (p.Asp25Val), ESP rs148980017, ExAC rs148980017, TOPMed rs148980017, gnomAD rs148980017, REVEL 0.41, CADD 14.90, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- T26I (p.Thr26Ile), rs769806862, ClinGen CA7939534, ClinVar RCV002251389, ExAC rs769806862, REVEL 0.28, CADD 1.55, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- T26S (p.Thr26Ser), ExAC rs769806862, TOPMed rs769806862, gnomAD rs769806862, REVEL 0.18, CADD 0.09, Uncertain significance
- R30K (p.Arg30Lys), cosmic curated COSV56776, CADD 4.46
- R30H (p.Arg30His), cosmic curated COSV56774
- R30S (p.Arg30Ser), cosmic curated COSV10020
- W31C (p.Trp31Cys), rs2507391645, ClinGen CA394965772, ClinVar RCV003334085, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- W31* (p.Trp31Ter), cosmic curated COSV10587, TOPMed rs1277884309
- W31L (p.Trp31Leu), cosmic curated COSV10020
- C32* (p.Cys32Ter), ExAC rs759809536, gnomAD rs759809536
- C32F (p.Cys32Phe), cosmic curated COSV10020
- S33F (p.Ser33Phe), cosmic curated COSV10020
- S33P (p.Ser33Pro), rs774567659, ClinGen CA7939494, ClinVar RCV003819667, ClinVar RCV005013214, REVEL 0.51, CADD 22.90, Uncertain significance, not provided; Familial juvenile hyperuricemic nephropathy type 1
- E34D (p.Glu34Asp), TOPMed rs1232376868, gnomAD rs1232376868, REVEL 0.59, CADD 0.28, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- C35W (p.Cys35Trp), rs1596563386, ClinGen CA394965709, ClinVar RCV001239432, Ensembl rs1596563386, AlphaMissense 0.93, MetaLR 1.00, Uncertain significance, not provided
- C35Y (p.Cys35Tyr), rs1555487726, ClinGen CA394965717, ClinVar RCV000522913, Ensembl rs1555487726, CADD 11.70, Likely pathogenic, not provided
- H36Q (p.His36Gln), gnomAD rs780500597, REVEL 0.61, CADD 25.80
- H36Y (p.His36Tyr), rs2507391567, ClinGen CA394965703, ClinVar RCV003334086, Pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- S37P (p.Ser37Pro), cosmic curated COSV56776, ExAC rs755992416, gnomAD rs755992416
- A39D (p.Ala39Asp), rs762973149, ClinGen CA394965653, ClinVar RCV000714152, ClinVar RCV002499298, REVEL 0.85, CADD 26.20, Uncertain significance, Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 1; not
- A39P (p.Ala39Pro), rs1245943973, ClinGen CA394965657, ClinVar RCV002272815, TOPMed rs1245943973, AlphaMissense 0.29, MetaLR 0.95, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- A39S (p.Ala39Ser), TOPMed rs1245943973, gnomAD rs1245943973, Uncertain significance
- A39T (p.Ala39Thr), rs1245943973, ClinGen CA394965659, ClinVar RCV001979058, TOPMed rs1245943973, REVEL 0.72, AlphaMissense 0.29, Conflicting interpretations, Familial juvenile hyperuricemic nephropathy type 1; not provided
- A39V (p.Ala39Val), ExAC rs762973149, gnomAD rs762973149, REVEL 0.83, CADD 26.20, Uncertain significance
- T40I (p.Thr40Ile), Ensembl rs1486280813
- T42K (p.Thr42Lys), ExAC rs773293322, TOPMed rs773293322, gnomAD rs773293322, REVEL 0.43, CADD 0.00, Uncertain significance
- T42M (p.Thr42Met), rs773293322, ClinGen CA7939491, ClinVar RCV003198454, ClinVar RCV005021847, REVEL 0.35, CADD 0.01, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1; Inborn genetic diseases
- E43Q (p.Glu43Gln), cosmic curated COSV10020
- E43K (p.Glu43Lys), cosmic curated COSV10020
- E45* (p.Glu45Ter), cosmic curated COSV10020
- E45Q (p.Glu45Gln), cosmic curated COSV56775
- A46D (p.Ala46Asp), cosmic curated COSV10813
- A46T (p.Ala46Thr), cosmic curated COSV10020
- V47I (p.Val47Ile), rs917737950, ClinGen CA279300289, ClinVar RCV002251388, ClinVar RCV002556281, REVEL 0.20, CADD 1.54, Uncertain significance, not provided; Inborn genetic diseases; Familial juvenile hyperuricemic nephropat
- V47L (p.Val47Leu), TOPMed rs917737950, gnomAD rs917737950, REVEL 0.21, CADD 3.07, Uncertain significance
- T48K (p.Thr48Lys), rs772008530, ClinGen CA7939488, ClinVar RCV003031339, ExAC rs772008530, REVEL 0.35, CADD 22.70, Uncertain significance, not provided
- T48P (p.Thr48Pro), Ensembl rs1965765563
- T49K (p.Thr49Lys), TOPMed rs1172018079, gnomAD rs1172018079, cosmic curated COSV56774, REVEL 0.44, CADD 13.30, Uncertain significance
- T49M (p.Thr49Met), TOPMed rs1172018079, gnomAD rs1172018079, cosmic curated COSV10020, REVEL 0.42, CADD 21.90, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- T49R (p.Thr49Arg), TOPMed rs1172018079, gnomAD rs1172018079, REVEL 0.38, CADD 12.80, Uncertain significance
- C50S (p.Cys50Ser), rs2141677149, ClinGen CA394987868, ClinVar RCV002251417, Ensembl rs2141677149, AlphaMissense 0.97, MetaLR 1.00, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- C50W (p.Cys50Trp), rs1965764292, ClinGen CA394987855, ClinVar RCV002251404, Ensembl rs1965764292, AlphaMissense 0.94, MetaLR 1.00, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- T51I (p.Thr51Ile), ExAC rs778464982, TOPMed rs778464982, gnomAD rs778464982, REVEL 0.26, CADD 11.80, Uncertain significance
- T51N (p.Thr51Asn), ExAC rs778464982, TOPMed rs778464982, gnomAD rs778464982, REVEL 0.28, CADD 11.40, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- C52F (p.Cys52Phe), rs2141677115, ClinGen CA394987832, ClinVar RCV001814706, Ensembl rs2141677115, AlphaMissense 0.92, MetaLR 1.00, Uncertain significance, not provided
- C52W (p.Cys52Trp), UniProt VAR 073052, Pathogenic, in ADTKD1
- Q53K (p.Gln53Lys), Ensembl rs1965763825
- E54K (p.Glu54Lys), cosmic curated COSV56777
- E54Q (p.Glu54Gln), gnomAD rs1172571123
- G55E (p.Gly55Glu), cosmic curated COSV56780
- G55S (p.Gly55Ser), cosmic curated COSV10459, Pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- G58C (p.Gly58Cys), rs748228253, ClinGen CA394987735, ClinVar RCV003559907, ClinVar RCV005014774, AlphaMissense 0.51, MetaLR 0.91, Conflicting interpretations, Familial juvenile hyperuricemic nephropathy type 1; not provided
- G58S (p.Gly58Ser), rs748228253, ClinGen CA7939483, ClinVar RCV002289275, ClinVar RCV006470448, REVEL 0.69, AlphaMissense 0.51, Conflicting interpretations, not provided; Familial juvenile hyperuricemic nephropathy type 1
- D59A (p.Asp59Ala), UniProt VAR 073053, Pathogenic, in ADTKD1
- D59G (p.Asp59Gly), rs2507391023, ClinGen CA394987716, ClinVar RCV002465077, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- D59Y (p.Asp59Tyr), rs2507391033, ClinGen CA394987722, ClinVar RCV003153109, Conflicting interpretations, Familial juvenile hyperuricemic nephropathy type 1
- L61M (p.Leu61Met), cosmic curated COSV56778
- T62A (p.Thr62Ala), ESP rs143248111, ExAC rs143248111, TOPMed rs143248111, gnomAD rs143248111, REVEL 0.34, CADD 0.00, Benign
- T62P (p.Thr62Pro), rs143248111, ClinGen CA7939482, ClinVar RCV001245586, ClinVar RCV002251364, REVEL 0.54, CADD 0.07, Conflicting interpretations, Familial juvenile hyperuricemic nephropathy type 1; not provided
- C63F (p.Cys63Phe), rs2507390949, ClinGen CA394987561, ClinVar RCV003048681, Likely pathogenic, not provided
- C63W (p.Cys63Trp), rs1199326518, ClinGen CA394987548, ClinVar RCV002251403, gnomAD rs1199326518, AlphaMissense 0.98, MetaLR 1.00, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- V64G (p.Val64Gly), cosmic curated COSV56780, Ensembl rs1596566282
- V64L (p.Val64Leu), TOPMed rs1320992304, gnomAD rs1320992304, REVEL 0.19, CADD 0.55
- V64M (p.Val64Met), cosmic curated COSV56775, REVEL 0.33, CADD 9.27
- L66P (p.Leu66Pro), rs1567311288, ClinGen CA394987488, ClinVar RCV000681880, ClinVar RCV002251377, AlphaMissense 0.69, MetaLR 0.72, Conflicting interpretations, Familial juvenile hyperuricemic nephropathy type 1; not provided
- D67G (p.Asp67Gly), rs2507390910, ClinGen CA394987467, ClinVar RCV004528699, ClinVar RCV005012927, Conflicting interpretations, Familial juvenile hyperuricemic nephropathy type 1; UMOD-related disorder
- D67N (p.Asp67Asn), gnomAD rs1259657316, REVEL 0.34, CADD 19.10
- E68D (p.Glu68Asp), Ensembl rs2141676968
- E68K (p.Glu68Lys), rs1965761636, ClinGen CA394987445, ClinVar RCV002251401, ClinVar RCV005626340, AlphaMissense 0.62, MetaLR 0.98, Uncertain significance, not provided; Kidney failure; Familial juvenile hyperuricemic nephropathy type 1
- E68V (p.Glu68Val), rs2141676976, ClinGen CA394987412, ClinVar RCV002251410, Ensembl rs2141676976, AlphaMissense 0.89, MetaLR 0.97, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- C69* (p.Cys69Ter), TOPMed rs1218858441, gnomAD rs1218858441, CADD 33.00, Uncertain significance
- C69R (p.Cys69Arg), cosmic curated COSV10739
- C69S (p.Cys69Ser), rs1567311279, ClinGen CA394987404, ClinVar RCV000681887, Ensembl rs1567311279, AlphaMissense 0.99, MetaLR 0.99, Likely pathogenic, not provided
- A70S (p.Ala70Ser), ExAC rs756677160, TOPMed rs756677160, gnomAD rs756677160, REVEL 0.17, AlphaMissense 0.09, Uncertain significance
- A70V (p.Ala70Val), ExAC rs753187242, gnomAD rs753187242, REVEL 0.15, CADD 14.20
- I71M (p.Ile71Met), cosmic curated COSV10513
- P72A (p.Pro72Ala), Ensembl rs959260806, REVEL 0.21, CADD 11.20
- P72L (p.Pro72Leu), gnomAD rs1341548443, REVEL 0.21, CADD 17.10
- G73R (p.Gly73Arg), gnomAD rs1394304982, REVEL 0.25, CADD 11.00
- A74S (p.Ala74Ser), rs1965760008, ClinGen CA394987296, ClinVar RCV001326280, Ensembl rs1965760008, AlphaMissense 0.08, MetaLR 0.41, Uncertain significance, not provided
- A74V (p.Ala74Val), TOPMed rs1285943261
- H75Q (p.His75Gln), Ensembl rs866823116
- N76D (p.Asn76Asp), ExAC rs766532087, gnomAD rs766532087, REVEL 0.34, CADD 17.50
- N76S (p.Asn76Ser), TOPMed rs1336248874, gnomAD rs1336248874, REVEL 0.38, CADD 18.70
- N76T (p.Asn76Thr), TOPMed rs1336248874, gnomAD rs1336248874
- C77R (p.Cys77Arg), rs2141676806, ClinGen CA394987210, ClinVar RCV001956241, Ensembl rs2141676806, AlphaMissense 0.94, MetaLR 0.99, Pathogenic, not provided
- C77S (p.Cys77Ser), rs121917768, ClinGen CA394987202, ClinVar RCV000517284, ClinVar RCV005018887, AlphaMissense 0.94, MetaLR 0.99, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1; not provided
- C77Y (p.Cys77Tyr), rs121917768, ClinGen CA256244, ClinVar RCV002251321, UniProt VAR 025950, AlphaMissense 0.94, MetaLR 0.99, Pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- S78P (p.Ser78Pro), rs749912886, ClinGen CA7939543, cosmic curated COSV56778, ClinVar RCV003679898, AlphaMissense 0.10, MetaLR 0.38, Uncertain significance
- A79S (p.Ala79Ser), TOPMed rs965326455, gnomAD rs965326455, REVEL 0.18, CADD 0.56
- A79T (p.Ala79Thr), TOPMed rs965326455, gnomAD rs965326455, REVEL 0.23, CADD 1.83
- N80S (p.Asn80Ser), TOPMed rs1288986917, gnomAD rs1288986917, REVEL 0.18, CADD 4.14
- S81I (p.Ser81Ile), rs1165900047, ClinGen CA394987101, ClinVar RCV002803473, TOPMed rs1165900047, REVEL 0.40, CADD 23.00, Uncertain significance, Inborn genetic diseases
- C83R (p.Cys83Arg), cosmic curated COSV56777
- C83F (p.Cys83Phe), rs2507390595, ClinVar RCV004584158, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- C83S (p.Cys83Ser), rs1965758091, ClinGen CA394987066, ClinVar RCV003665643, AlphaMissense 0.96, MetaLR 0.99, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- C83W (p.Cys83Trp), rs1449715458, ClinGen CA394987043, ClinVar RCV002251405, TOPMed rs1449715458, AlphaMissense 0.96, MetaLR 0.99, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- N85K (p.Asn85Lys), rs750535100, ClinGen CA394986976, ClinVar RCV000681908, ExAC rs750535100, AlphaMissense 0.95, MetaLR 0.97, Likely pathogenic, not provided
- N85S (p.Asn85Ser), rs1057522004, ClinGen CA16607268, ClinVar RCV000431019, ClinVar RCV004725215, AlphaMissense 0.46, MetaLR 0.97, Likely pathogenic, not provided
- T86M (p.Thr86Met), ESP rs376787639, ExAC rs376787639, TOPMed rs376787639, gnomAD rs376787639, REVEL 0.59, CADD 16.30, Uncertain significance
- T86P (p.Thr86Pro), ExAC rs765345222, TOPMed rs765345222, gnomAD rs765345222
- T86R (p.Thr86Arg), rs376787639, ClinGen CA7939472, ClinVar RCV002628317, ClinVar RCV002628318, REVEL 0.66, CADD 20.20, Uncertain significance, not provided; Inborn genetic diseases
- T86S (p.Thr86Ser), ExAC rs765345222, TOPMed rs765345222, gnomAD rs765345222, REVEL 0.37, CADD 10.50
- P87A (p.Pro87Ala), ESP rs374642516, ExAC rs374642516, TOPMed rs374642516, gnomAD rs374642516, REVEL 0.25, CADD 5.07
- P87S (p.Pro87Ser), ESP rs374642516, ExAC rs374642516, TOPMed rs374642516, gnomAD rs374642516, REVEL 0.36, CADD 13.60
- G88D (p.Gly88Asp), rs2141676609, ClinGen CA394986944, ClinVar RCV002251604, Ensembl rs2141676609, AlphaMissense 0.72, MetaLR 0.99, Conflicting interpretations, Familial juvenile hyperuricemic nephropathy type 1
- F90Y (p.Phe90Tyr), TOPMed rs1965756028
- S91F (p.Ser91Phe), ExAC rs759423728, TOPMed rs759423728, gnomAD rs759423728, REVEL 0.47, CADD 9.20, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- C92G (p.Cys92Gly), rs2507390402, ClinGen CA394986873, ClinVar RCV002294613, Uncertain significance, Kidney disorder
- C92W (p.Cys92Trp), rs2507390389, ClinGen CA394986854, ClinVar RCV003151685, ClinVar RCV003236598, Pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- V93A (p.Val93Ala), Ensembl rs2141676565, REVEL 0.31, CADD 4.25, Pathogenic
- V93I (p.Val93Ile), TOPMed rs1230317680, gnomAD rs1230317680, REVEL 0.29, CADD 2.38
- V93F (p.Val93Phe), cosmic curated COSV56774, TOPMed rs917737950, gnomAD rs917737950, Uncertain significance
- C94G (p.Cys94Gly), Ensembl rs2141676543, Pathogenic
- C94R (p.Cys94Arg), rs2141676543, ClinGen CA394986832, ClinVar RCV002251595, Ensembl rs2141676543, AlphaMissense 0.85, MetaLR 0.99, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- P95S (p.Pro95Ser), Ensembl rs2141676523, Pathogenic
- E96V (p.Glu96Val), cosmic curated COSV56773
- E96* (p.Glu96Ter), rs1357689052, ClinGen CA394986799, ClinVar RCV000722306, TOPMed rs1357689052, CADD 32.00, Pathogenic
- E96D (p.Glu96Asp), TOPMed rs1965755063, gnomAD rs1965755063, REVEL 0.27, CADD 0.00
- E96K (p.Glu96Lys), TOPMed rs1357689052, gnomAD rs1357689052, REVEL 0.29, CADD 7.23, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- G97S (p.Gly97Ser), ExAC rs774170447, gnomAD rs774170447, REVEL 0.73, CADD 24.30
- R99I (p.Arg99Ile), cosmic curated COSV56776
- R99C (p.Arg99Cys), ExAC rs770525672, gnomAD rs770525672, REVEL 0.60, CADD 24.50
- R99L (p.Arg99Leu), TOPMed rs1379259057, gnomAD rs1379259057, REVEL 0.25, CADD 10.10
- R99P (p.Arg99Pro), TOPMed rs1379259057, gnomAD rs1379259057, REVEL 0.58, CADD 21.70
- S101* (p.Ser101Ter), rs1310015332, ClinGen CA394986699, ClinVar RCV003726147, ClinVar RCV005013144, CADD 33.00, Uncertain significance
- S101L (p.Ser101Leu), gnomAD rs1310015332, REVEL 0.18, CADD 11.90, Uncertain significance
- S101T (p.Ser101Thr), Ensembl rs890891558, Likely benign, Inborn genetic diseases
- G103C (p.Gly103Cys), rs28934584, ClinGen CA256242, ClinVar RCV002251320, ClinVar RCV004528105, AlphaMissense 0.10, MetaLR 0.48, Likely pathogenic, UMOD-related disorder
- G103D (p.Gly103Asp), rs1406937918, ClinGen CA394986655, ClinVar RCV003699587, gnomAD rs1406937918, AlphaMissense 0.11, MetaLR 0.36, Uncertain significance, not provided
- G103R (p.Gly103Arg), TOPMed rs28934584, gnomAD rs28934584, REVEL 0.38, AlphaMissense 0.10, Pathogenic, in ADTKD1
- G103S (p.Gly103Ser), TOPMed rs28934584, gnomAD rs28934584, REVEL 0.32, AlphaMissense 0.10, Uncertain significance, Familial juvenile hyperuricemic nephropathy type 1
- G105C (p.Gly105Cys), rs747592262, ClinGen CA394986631, ClinVar RCV002251605, ExAC rs747592262, REVEL 0.58, CADD 23.50, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- G105D (p.Gly105Asp), rs1162633293, ClinVar RCV005255069, TOPMed rs1162633293, gnomAD rs1162633293, REVEL 0.47, CADD 23.60, Likely pathogenic, Familial juvenile hyperuricemic nephropathy type 1
- G105R (p.Gly105Arg), ExAC rs747592262, TOPMed rs747592262, gnomAD rs747592262, REVEL 0.50, CADD 23.20, Likely pathogenic
- G105S (p.Gly105Ser), ExAC rs747592262, TOPMed rs747592262, gnomAD rs747592262, REVEL 0.26, CADD 17.30, Likely pathogenic
- C106F (p.Cys106Phe), rs398123697, ClinGen CA221976, ClinVar RCV000681797, ClinVar RCV002251330, REVEL 0.91, CADD 25.20, Conflicting interpretations, UMOD-related disorder; Familial juvenile hyperuricemic nephropathy type 1; not p
- C106Y (p.Cys106Tyr), rs398123697, ClinGen CA394986605, ClinVar RCV001328229, ClinVar RCV002251383, REVEL 0.88, CADD 25.10, Pathogenic/Likely pathogenic, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- T107M (p.Thr107Met), cosmic curated COSV56780, ExAC rs772008530, TOPMed rs772008530, gnomAD rs772008530, Uncertain significance
- T107R (p.Thr107Arg), cosmic curated COSV56780
- T107A (p.Thr107Ala), rs1262195867, ClinGen CA394987752, cosmic curated COSV10020, ClinVar RCV002781649, AlphaMissense 0.10, MetaLR 0.49, Likely benign
- T107I (p.Thr107Ile), cosmic curated COSV56773, Ensembl rs1965762367
- D108N (p.Asp108Asn), cosmic curated COSV56773
- V109A (p.Val109Ala), cosmic curated COSV56773, REVEL 0.66, CADD 23.80
- V109E (p.Val109Glu), rs780462125, ClinGen CA7939460, ClinVar RCV000681768, ClinVar RCV002294367, REVEL 0.76, CADD 26.20, Conflicting interpretations, UMOD-related disorder; Kidney disorder; not provided
- V109L (p.Val109Leu), ExAC rs751919061, TOPMed rs751919061, gnomAD rs751919061, REVEL 0.44, CADD 18.20
- V109M (p.Val109Met), ExAC rs751919061, TOPMed rs751919061, gnomAD rs751919061, REVEL 0.54, CADD 23.00
Public UMOD analysis runs
- UMOD analysis run — UMOD (1,323 variants) — completed 2026-08-19