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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEPD
(G448R +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GPathogenic/Likely pathogenic
PEPD
(D223N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GLikely benign
PEPD
(R120* +1 more)
Single nucleotide variant
(nonsense +1 more)
Prolidase deficiency
+1 more
GPathogenic
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