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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX26
(L12fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
PEX26
(A10V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
(P11L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX26
(R13M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX26
(P24R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7B
+2 more
GUncertain significance
PEX26
(P33L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX26
(E40A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX26
(E40D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX26
(L44F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX26
(F51L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
(N67S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7B
+3 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
(R98W)
Single nucleotide variant
(missense variant)
PEX26-related condition
+4 more
GPathogenic
PEX26
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
(Y109H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX26
(V137L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+4 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX26
(L153V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+4 more
GBenign/Likely benign
PEX26
(P154L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
(R166W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX26
(R166Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7B
+3 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX26
(A185V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
(R191W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PEX26
(H210Y)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
(E215K)
Single nucleotide variant
(missense variant)
PEX26-related condition
+3 more
GConflicting classifications of pathogenicity
PEX26
(L221R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PEX26
(L221Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
(L239P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
PEX26
(S242F)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 7B
+2 more
GUncertain significance
PEX26
(A243V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX26
(S273A +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
(Q285R +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
(R288H +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX26
(S296P +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+2 more
GUncertain significance
PEX26
(Y299fs +1 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GUncertain significance
PEX26
(R304H +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GBenign
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