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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEPD
(L368R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PEPD
(R265* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEPD
(A212P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
PEPD
(S202F +1 more)
Single nucleotide variant
(missense variant +1 more)
Prolidase deficiency
GPathogenic
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