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Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UPB1
(A85fs)
Deletion
(frameshift variant)
Deficiency of beta-ureidopropionase
GPathogenic
UPB1
(R169*)
Single nucleotide variant
(nonsense)
Deficiency of beta-ureidopropionase
GLikely pathogenic
UPB1
(Q224*)
Single nucleotide variant
(nonsense)
Deficiency of beta-ureidopropionase
GPathogenic
UPB1
Duplication
(splice donor variant)
Deficiency of beta-ureidopropionase
GPathogenic
UPB1
(N345I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
UPB1
Single nucleotide variant
(intron variant)
Deficiency of beta-ureidopropionase
GPathogenic
UPB1
(M244I)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
+1 more
GUncertain significance
UPB1
(A2G)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
(L13S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
UPB1
(A120S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GLikely benign
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
LOC130067121, UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
LOC130067121, UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
LOC130067121, UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GBenign
UPB1
(V104I)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
(R68Q)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
(M364I)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(intron variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
(D343N)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
UPB1
Single nucleotide variant
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
(G226R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
(H16P)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GLikely benign
LOC130067121, UPB1
Single nucleotide variant
(synonymous variant)
UPB1-related condition
+2 more
GBenign/Likely benign
UPB1
(V28I)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
+1 more
GLikely benign
UPB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
UPB1
(S264R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UPB1
(R367G)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(splice acceptor variant)
Deficiency of beta-ureidopropionase
+3 more
GConflicting classifications of pathogenicity
UPB1
(G31S)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GBenign
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Microsatellite
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Duplication
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GBenign
LOC130067121, UPB1
Single nucleotide variant
(3 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
LOC130067121, UPB1
Single nucleotide variant
(synonymous variant)
UPB1-related condition
+2 more
GBenign
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
(S300L)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
+1 more
GUncertain significance
UPB1
(E297K)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
(E172K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UPB1
(A155V)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
+1 more
GConflicting classifications of pathogenicity
UPB1
(R99H)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
(S48P)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
(L9P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UPB1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of beta-ureidopropionase
GLikely benign
UPB1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of beta-ureidopropionase
GLikely benign
UPB1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
UPB1
(R326Q)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
+2 more
GConflicting classifications of pathogenicity
UPB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
UPB1
Single nucleotide variant
(synonymous variant)
UPB1-related condition
+2 more
GBenign/Likely benign
UPB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
UPB1
Single nucleotide variant
(synonymous variant)
Deficiency of beta-ureidopropionase
+1 more
GBenign
UPB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
UPB1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of beta-ureidopropionase
GBenign
UPB1
Single nucleotide variant
Deficiency of beta-ureidopropionase
GBenign
UPB1
(R70P)
Single nucleotide variant
(missense variant)
Deficiency of beta-ureidopropionase
GUncertain significance
UPB1
(A85E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
UPB1
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
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