U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UMOD
(F521L +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(C256S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C120F +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(G103fs +1 more)
Deletion
(frameshift variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(W230R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(R204C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(R365W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(I242N +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(C153Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(H36Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(W31C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(D59Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(R498* +2 more)
Single nucleotide variant
(nonsense +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C125W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C267R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(H177Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(E482V +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(A103T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(N161fs +1 more)
Insertion
(frameshift variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(V491M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UMOD
(E397K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(D59G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(G58S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(C287R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(A39P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(G105C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(G121D +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GBenign/Likely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GLikely benign
UMOD
(V520M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
UMOD
(H399fs +1 more)
Deletion
(frameshift variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(R233H +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(R580Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
UMOD
(M229L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+2 more
GUncertain significance
UMOD
(Q464* +2 more)
Single nucleotide variant
(nonsense +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(A461E +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GConflicting classifications of pathogenicity
UMOD
(C127R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(G454S +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(Q640R +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
Gnot provided
UMOD
(S292Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
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
(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
(C50S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
Gnot provided
UMOD
(S367W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(V126A +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C127G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C127S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(P128S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(E129del +1 more)
Deletion
(inframe_deletion +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
UMOD-related condition
+2 more
GLikely benign
UMOD
(H399R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(E101V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(D144N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(G253D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(C248R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(D196N +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C148W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(L333P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(C116W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(T634I +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(S124del +1 more)
Deletion
(inframe_deletion +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C50W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(C63W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GLikely pathogenic
UMOD
(W217C +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
UMOD
(G131D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
UMOD
(G158R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GLikely benign
UMOD
(G303S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(Y507C +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(genic upstream transcript variant)
Familial juvenile hyperuricemic nephropathy type 1
GBenign
UMOD
(E299K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(intron variant)
Familial juvenile hyperuricemic nephropathy type 1
+3 more
GConflicting classifications of pathogenicity
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(T26I)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(V47I +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(R408W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+2 more
GConflicting classifications of pathogenicity
UMOD
(R448C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GConflicting classifications of pathogenicity
UMOD
(D463N +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GBenign
UMOD
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GUncertain significance
UMOD
(C106Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GPathogenic/Likely pathogenic
UMOD
(C250W +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
(C297Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
GPathogenic
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GLikely benign
UMOD
(R408Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GBenign
UMOD
(R459Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GBenign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GLikely benign
UMOD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
UMOD
(E96* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(R204G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
UMOD
(R185C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
UMOD
(R178P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UMOD
(A39D +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial juvenile hyperuricemic nephropathy type 1
+1 more
GUncertain significance
UMOD
(L66P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination