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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(G270C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C267F +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
Gnot provided
UMOD
(C248W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
UMOD
Deletion
(inframe_deletion +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GPathogenic
UMOD
(L168P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
Gnot provided
UMOD
(C112Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
Gnot provided
UMOD
(C106F +1 more)
Single nucleotide variant
(missense variant +1 more)
UMOD-related condition
+2 more
GConflicting classifications of pathogenicity
UMOD
Indel
(inframe_indel +1 more)
not provided
+1 more
GPathogenic
UMOD
(C50S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
Gnot provided
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