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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(V458L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+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
+3 more
GBenign/Likely benign
UMOD
(R204P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(R204G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
UMOD
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GPathogenic
UMOD
(R185C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
UMOD
(R178P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+2 more
GBenign
UMOD
(C77S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
UMOD
(A39D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
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