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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(W258C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(G210S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UMOD
(V109E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
UMOD
(C106F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
UMOD
(E96* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GConflicting classifications of pathogenicity
UMOD
(N85K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
UMOD
(C69S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
UMOD
(L66P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GConflicting classifications of pathogenicity
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