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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX2
(S289G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX2
(V276L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX2
(G258A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX2
(W250G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX2
(W250R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX2
(G241V)
Single nucleotide variant
(missense variant)
PEX2-related condition
+2 more
GConflicting classifications of pathogenicity
PEX2
(S233N)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+2 more
GUncertain significance
PEX2
(P209fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PEX2
(L207V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX2
(G199A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX2
(C184F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX2
(C184Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PEX2
(C184R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PEX2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX2
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
PEX2
(V108L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX2
(I104fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PEX2
(Q102K)
Single nucleotide variant
(missense variant)
PEX2-related condition
+3 more
GUncertain significance
PEX2
(R94S)
Single nucleotide variant
(missense variant)
PEX2-related condition
+4 more
GConflicting classifications of pathogenicity
PEX2
(S90F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
PEX2
(Y70C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX2
(T38A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX2
(Q31E)
Single nucleotide variant
(missense variant)
PEX2-related condition
+4 more
GConflicting classifications of pathogenicity
PEX2
(L23F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX2
(N7H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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