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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(D560E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UMOD
(G488D +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C248R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(E68K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
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