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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(Q316P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C315R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C300G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(V273F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
UMOD
(C255Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C248S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C217G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C217R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(D196N +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
Deletion
(inframe_deletion +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GPathogenic
UMOD
(C148W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C148Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
UMOD
(N128S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C126R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(G103C +1 more)
Single nucleotide variant
(missense variant +1 more)
UMOD-related disorder
GLikely pathogenic
UMOD
(C77Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
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