U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMP
(L31F)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 2
+2 more
GUncertain significance
POMP
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
POMP
(F114fs)
Indel
(frameshift variant)
Proteasome-associated autoinflammatory syndrome 2
GPathogenic
POMP
(E115fs)
Duplication
(frameshift variant)
Proteasome-associated autoinflammatory syndrome 2
GPathogenic
POMP
(I112fs)
Deletion
(frameshift variant)
Proteasome-associated autoinflammatory syndrome 2
+1 more
GPathogenic
Format
Sort by
Choose Destination