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Links from MedGen

Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEPD
Single nucleotide variant
(splice acceptor variant)
Prolidase deficiency
+1 more
GLikely pathogenic
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PEPD
(D223N +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
(R120* +1 more)
Single nucleotide variant
(nonsense +1 more)
Prolidase deficiency
+1 more
GPathogenic
PEPD
(R169W +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
(F211fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PEPD
(K140* +1 more)
Single nucleotide variant
(nonsense)
Prolidase deficiency
+1 more
GPathogenic
PEPD
Single nucleotide variant
(splice acceptor variant +1 more)
Prolidase deficiency
GPathogenic
PEPD
(M1R)
Single nucleotide variant
(missense variant +1 more)
Prolidase deficiency
GPathogenic
PEPD
(V126I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEPD
(G196R +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
(I111F)
Single nucleotide variant
(missense variant +1 more)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant +1 more)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
(R331Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
(G182S +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
GUncertain significance
PEPD
(R378C +2 more)
Single nucleotide variant
(missense variant)
Global developmental delay
+2 more
GUncertain significance
PEPD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(V212M +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
(G360E +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
(V408M +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
(I116fs +1 more)
Deletion
(frameshift variant)
Prolidase deficiency
GPathogenic
PEPD
Single nucleotide variant
(splice acceptor variant +1 more)
Prolidase deficiency
+1 more
GPathogenic
PEPD
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
(A432T +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+2 more
GConflicting classifications of pathogenicity
PEPD
(D355G +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GBenign/Likely benign
PEPD
(I247T +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+2 more
GBenign
PEPD
(R35Q)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(intron variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(5 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(5 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(5 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
(D87N)
Single nucleotide variant
(missense variant +1 more)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
(V143I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
(V150I +1 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GBenign/Likely benign
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PEPD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant +1 more)
Prolidase deficiency
+2 more
GBenign
PEPD
Single nucleotide variant
(intron variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(Y231del +2 more)
Deletion
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
PEPD
(R237H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GBenign
PEPD
(S251T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(V316I +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(intron variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(G349S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PEPD
(P365L +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
+2 more
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+2 more
GBenign
PEPD
Single nucleotide variant
(intron variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(V386M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
(R388H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PEPD
(E391K +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
(R431C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
(R431H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
(L435F +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PEPD
(R437C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GBenign
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+1 more
GLikely benign
PEPD
Single nucleotide variant
(intron variant)
Prolidase deficiency
+1 more
GConflicting classifications of pathogenicity
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
GUncertain significance
PEPD
(I462T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PEPD
Single nucleotide variant
(synonymous variant)
Prolidase deficiency
+2 more
GBenign/Likely benign
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
GBenign
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
Duplication
(3 prime UTR variant)
not provided
+1 more
GBenign
PEPD
Single nucleotide variant
(3 prime UTR variant)
Prolidase deficiency
+1 more
GBenign
PEPD
Duplication
(3 prime UTR variant)
Prolidase deficiency
GBenign
PEPD
Duplication
(3 prime UTR variant)
Prolidase deficiency
GUncertain significance
PEPD
(L368R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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
PEPD
Duplication
(nonsense +2 more)
not provided
GPathogenic
PEPD
(E412K +2 more)
Single nucleotide variant
(missense variant)
Prolidase deficiency
GPathogenic
PEPD
(R265* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEPD
(E453del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
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