U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBR1
(N1582fs)
Deletion
(frameshift variant)
Johanson-Blizzard syndrome
GLikely pathogenic
UBR1
(I692T)
Single nucleotide variant
(missense variant)
Johanson-Blizzard syndrome
GUncertain significance
UBR1
(I198T)
Single nucleotide variant
(missense variant)
Johanson-Blizzard syndrome
GUncertain significance
UBR1
Single nucleotide variant
(splice donor variant)
Johanson-Blizzard syndrome
GPathogenic
UBR1
Single nucleotide variant
(intron variant)
Johanson-Blizzard syndrome
GPathogenic/Likely pathogenic
UBR1
Single nucleotide variant
(intron variant)
Johanson-Blizzard syndrome
GUncertain significance
UBR1
(Y1508*)
Single nucleotide variant
(nonsense)
Johanson-Blizzard syndrome
+1 more
GPathogenic
UBR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC130056936, UBR1
Single nucleotide variant
(intron variant)
Johanson-Blizzard syndrome
+1 more
GBenign
UBR1
Single nucleotide variant
(splice acceptor variant)
Johanson-Blizzard syndrome
GPathogenic
UBR1
(R316H)
Single nucleotide variant
(missense variant)
Johanson-Blizzard syndrome
GUncertain significance
UBR1
(R754H)
Single nucleotide variant
(missense variant)
Johanson-Blizzard syndrome
+1 more
GUncertain significance
UBR1
Single nucleotide variant
(splice donor variant)
Johanson-Blizzard syndrome
GLikely pathogenic
UBR1
(C1673W)
Single nucleotide variant
(missense variant)
Johanson-Blizzard syndrome
GUncertain significance
UBR1
(S405G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
UBR1
(G758E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UBR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic
UBR1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
UBR1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
UBR1
(I899V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
UBR1
(T1097M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
UBR1
(C1369*)
Single nucleotide variant
(nonsense)
Johanson-Blizzard syndrome
GPathogenic
UBR1
Single nucleotide variant
(splice acceptor variant)
Johanson-Blizzard syndrome
GPathogenic
UBR1
Single nucleotide variant
(intron variant)
Johanson-Blizzard syndrome
GPathogenic
UBR1
(Q513*)
Single nucleotide variant
(nonsense)
Johanson-Blizzard syndrome
GPathogenic
UBR1
Single nucleotide variant
(splice donor variant)
Johanson-Blizzard syndrome
GPathogenic
UBR1
(H136R)
Single nucleotide variant
(missense variant)
Johanson-Blizzard syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination