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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEPD
(A485D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
(M438V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEPD
(C414Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEPD
(V392M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEPD
(A432T +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(V370M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
(W326* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEPD
(Y281N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PEPD
(I111V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEPD
(D87N)
Single nucleotide variant
(missense variant +1 more)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(Y83C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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