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Items: 1 to 100 of 440

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Deletion
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GBenign
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GBenign
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Kidney disorder
GUncertain significance
UMOD
(Q640R +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
Gnot provided
UMOD
(F639S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
UMOD
(T634I +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(S679L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(K624E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GBenign
UMOD
Single nucleotide variant
(intron variant)
not provided
GBenign
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
(L620F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(L653fs +2 more)
Duplication
(frameshift variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GBenign
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GBenign
UMOD
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
UMOD
(R639Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(P650S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(L632P +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(R588Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GConflicting classifications of pathogenicity
UMOD
(R621* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
UMOD
(T585I +2 more)
Single nucleotide variant
(missense variant +1 more)
Kidney disorder
+1 more
GConflicting classifications of pathogenicity
UMOD
(T581N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
UMOD
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GBenign/Likely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
(C625F +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(N575K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(Y602D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(H565R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(D560E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UMOD
(N591S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(R587Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(R587W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(V550I +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(R580Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
UMOD
(R594* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
UMOD
(G546S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(Q545* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(R531T +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Microsatellite
(nonsense +1 more)
not provided
GUncertain significance
UMOD
(H529R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
not provided
GBenign
UMOD
Deletion
(intron variant)
not provided
GLikely benign
UMOD
Duplication
(intron variant)
not provided
GBenign
UMOD
Single nucleotide variant
(intron variant)
not provided
GBenign
UMOD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
UMOD
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GBenign/Likely benign
UMOD
(F521L +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(D563Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(T515M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
UMOD
(Y507C +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
UMOD
(R498Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(R498* +2 more)
Single nucleotide variant
(nonsense +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(M490T +2 more)
Single nucleotide variant
(missense variant +1 more)
UMOD-related disorder
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
UMOD
(G488D +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(V520M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UMOD
(Y486* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+3 more
GBenign/Likely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(E482V +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(S480Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(V477M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(Y472H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(P518R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
UMOD
(Q470R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
UMOD
(Q470* +2 more)
Single nucleotide variant
(nonsense +1 more)
UMOD-related disorder
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UMOD
(T469M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(Q464* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
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