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Items: 1 to 100 of 185

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
AVPR1B, AVPR1B-DT
+278 more
Deletion
Autism
GLikely pathogenic
REN
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
REN
(R406C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(R399H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
REN
(R396H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
REN
(R396C)
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
REN
(R395W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
(R387Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
REN
(R387*)
Single nucleotide variant
(nonsense)
Hyperproreninemia, familial
GPathogenic
REN
(T384N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REN
(P373L)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
(K359I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
REN
Deletion
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REN
Single nucleotide variant
(synonymous variant)
Renal tubular dysgenesis
+2 more
GConflicting classifications of pathogenicity
REN
(T344M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
REN
(H337Y)
Single nucleotide variant
(missense variant)
REN-related condition
+1 more
GBenign/Likely benign
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 2
+1 more
GUncertain significance
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
REN
(E310G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REN
(E310K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(I305T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REN
(S296C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(V291I)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
Familial juvenile hyperuricemic nephropathy type 2
+1 more
GConflicting classifications of pathogenicity
REN
(S278P)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
REN
Single nucleotide variant
(intron variant)
REN-related condition
+1 more
GBenign/Likely benign
REN
Microsatellite
(intron variant)
not provided
GUncertain significance
REN
Microsatellite
(intron variant)
not provided
GUncertain significance
REN
Microsatellite
(intron variant)
Familial juvenile hyperuricemic nephropathy type 2
+2 more
GBenign/Likely benign
REN
Microsatellite
(intron variant)
not provided
GBenign
REN
Microsatellite
(intron variant)
not provided
GBenign
REN
Microsatellite
(intron variant)
not provided
GBenign
REN
Microsatellite
(intron variant)
not provided
GUncertain significance
REN
Microsatellite
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
(G273R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
(K263R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(E253K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
REN
(D248E)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+3 more
GConflicting classifications of pathogenicity
REN
(S247R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REN
(G246S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(G240R)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+4 more
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
(E233K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
REN
(R230K)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
GPathogenic
REN
Single nucleotide variant
(synonymous variant)
REN-related condition
+3 more
GConflicting classifications of pathogenicity
REN
(E221K)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+1 more
GUncertain significance
REN
(G217E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(G217R)
Single nucleotide variant
(missense variant)
Familial juvenile hyperuricemic nephropathy type 2
+3 more
GBenign/Likely benign
REN
(I213V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(D211N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
REN
(R205K)
Single nucleotide variant
(missense variant)
Kidney disorder
GUncertain significance
REN
(E189K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
(T178M)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis of genetic origin
+2 more
GUncertain significance
REN
(G175V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(M173T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
REN
Single nucleotide variant
(intron variant)
Renal tubular dysgenesis
+4 more
GBenign
REN
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
REN
Single nucleotide variant
(intron variant)
Kidney disorder
GUncertain significance
REN
Single nucleotide variant
(intron variant)
Kidney disorder
+4 more
GBenign/Likely benign
REN
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
REN
(Q160R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
REN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REN
(S155G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(T151K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(R148H)
Single nucleotide variant
(missense variant)
Kidney disorder
+1 more
GUncertain significance
REN
(R148C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REN
(N141S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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