U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEPD
(E453del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PEPD
Deletion
Prolidase deficiency
GPathogenic
PEPD
(G448R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PEPD
(E412K +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
GPathogenic
PEPD
(G278D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PEPD
(D276N +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PEPD
(R265* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEPD
(Y231del +2 more)
Deletion
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
PEPD
Duplication
(nonsense +2 more)
not provided
GPathogenic
PEPD
(S202F +1 more)
Single nucleotide variant
(missense variant +1 more)
Prolidase deficiency
GPathogenic
PEPD
(R184Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination