U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(R498* +2 more)
Single nucleotide variant
(nonsense +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(A461E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
UMOD
(G270C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C106Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
UMOD
(G105C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
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
UMOD
(D59Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination