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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX5
(V20A)
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
PEX5
(G12R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
PEX5-related condition
+2 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
PEX5-related condition
+2 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
(E65D +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+2 more
GUncertain significance
PEX5
(R77H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX5
(F99L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PEX5
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX5
(A124G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 2B
+2 more
GConflicting classifications of pathogenicity
PEX5
(S141A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX5
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
PEX5
(P151R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
(Q166E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX5
(G178E +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2A (Zellweger)
+3 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
(R183C +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
PEX5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(intron variant)
PEX5-related condition
+3 more
GConflicting classifications of pathogenicity
PEX5
(T197M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
(S199N +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
PEX5
(V202L +1 more)
Single nucleotide variant
(missense variant)
PEX5-related condition
+4 more
GConflicting classifications of pathogenicity
PEX5
(R220Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 2B
+1 more
GConflicting classifications of pathogenicity
PEX5
(E224K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX5
(V227A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 2B
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 2A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX5
(G252D +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PEX5
Duplication
(intron variant)
not provided
+1 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PEX5
(R325C +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
PEX5
(R344W +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX5
(E340D +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX5
(A352T +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX5
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX5
(A388S +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX5
(R385Q +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX5
(R431W +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX5
(R423Q +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
PEX5
(T433I +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
PEX5
(D457E +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX5
(R472Q +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX5
(V500M +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+2 more
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
(V509I +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX5
(N520S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 2B
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 2B
+3 more
GConflicting classifications of pathogenicity
PEX5
(S597N +6 more)
Single nucleotide variant
(missense variant)
PEX5-related condition
+5 more
GConflicting classifications of pathogenicity
PEX5
(R600C +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+1 more
GUncertain significance
PEX5
(M613T +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX5
(T625P +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX5
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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