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Links from MedGen

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REN
(C362Y)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
GUncertain significance
LOC107548112, REN
(L12R)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
GUncertain significance
REN
(R395Q)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
GUncertain significance
LOC107548112, REN
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 2
GLikely benign
REN
(R387Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
REN
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
REN
Microsatellite
(intron variant)
Familial juvenile hyperuricemic nephropathy type 2
+2 more
GBenign/Likely benign
REN
(T178M)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
+2 more
GUncertain significance
REN
(R396C)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
GUncertain significance
REN
(I77S)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+2 more
GUncertain significance
REN
Single nucleotide variant
(intron variant)
Renal tubular dysgenesis
+2 more
GBenign
LOC107548112, REN
(C20R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
REN
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+2 more
GConflicting classifications of pathogenicity
REN
(P373L)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GConflicting classifications of pathogenicity
REN
(E221K)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
LOC107548112, REN
Single nucleotide variant
(5 prime UTR variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
LOC107548112, REN
Single nucleotide variant
(synonymous variant)
REN-related disorder
+2 more
GConflicting classifications of pathogenicity
REN
(G240R)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+4 more
GUncertain significance
LOC107548112, REN
(R33W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
REN
(G106A)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
REN
(S278P)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
REN
(V291I)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
REN
Single nucleotide variant
(intron variant)
Renal tubular dysgenesis
+3 more
GConflicting classifications of pathogenicity
LOC107548112, REN
(L16H)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
GLikely pathogenic
LOC107548112, REN
Single nucleotide variant
(synonymous variant)
Familial juvenile hyperuricemic nephropathy type 2
+2 more
GBenign
LOC107548112, REN
(P8A)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
REN
(E89D)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
+5 more
GUncertain significance
REN
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 2
+1 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
REN
(S133L)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+1 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(intron variant)
Kidney disorder
+4 more
GBenign/Likely benign
REN
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
REN
(G217R)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+3 more
GBenign/Likely benign
REN
Single nucleotide variant
(synonymous variant)
REN-related disorder
+3 more
GConflicting classifications of pathogenicity
REN
(D248E)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+3 more
GConflicting classifications of pathogenicity
REN
(G273R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
Familial juvenile hyperuricemic nephropathy type 2
+1 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 2
+1 more
GUncertain significance
REN
(K359I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(intron variant)
Renal tubular dysgenesis
+4 more
GBenign
REN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
REN
(R43*)
Single nucleotide variant
(nonsense)
Renal tubular dysgenesis of genetic origin
+1 more
GPathogenic
LOC107548112, REN
(L16R)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
GPathogenic
LOC107548112, REN
(L16del)
Microsatellite
(inframe_deletion)
Renal tubular dysgenesis of genetic origin
+2 more
GPathogenic/Likely pathogenic
REN
(R49*)
Single nucleotide variant
(nonsense)
Familial juvenile hyperuricemic nephropathy type 2
+1 more
GPathogenic
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