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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSMB9
(R60H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PSMB4
Single nucleotide variant
(intron variant)
Proteasome-associated autoinflammatory syndrome 3
+1 more
GBenign
PSMB4
(I234T)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 3
+3 more
GBenign
PSMB4
Single nucleotide variant
(synonymous variant)
PSMB4-related disorder
+3 more
GBenign
PSMB4
(G158R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PSMB9
(G165D)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 3
GLikely pathogenic
PSMB4
(P16fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
PSMB4
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PSMB4
Deletion
(inframe_deletion)
Proteasome-associated autoinflammatory syndrome 3
GPathogenic
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