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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(V520M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UMOD
(E482V +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(C267R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(R178P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(H177Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(A103T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
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