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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
UMOD
Microsatellite
(nonsense +1 more)
not provided
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+3 more
GBenign/Likely benign
UMOD
(T469M +2 more)
Single nucleotide variant
(missense variant +1 more)
UMOD-related condition
+2 more
GConflicting classifications of pathogenicity
UMOD
(V458L +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+3 more
GBenign
UMOD
(C315Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+3 more
GBenign/Likely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+2 more
GBenign
UMOD
(C248W +1 more)
Single nucleotide variant
(missense variant +1 more)
UMOD-related condition
+1 more
GPathogenic
UMOD
(L180P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(L180V +1 more)
Single nucleotide variant
(missense variant +1 more)
UMOD-related condition
+3 more
GBenign/Likely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
UMOD
(C106F +1 more)
Single nucleotide variant
(missense variant +1 more)
UMOD-related condition
+2 more
GConflicting classifications of pathogenicity
UMOD
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+2 more
GBenign
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