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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX26
(Y109H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PEX26
(V137L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+4 more
GConflicting classifications of pathogenicity
PEX26
(L153V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
PEX26
(R166Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7B
+3 more
GConflicting classifications of pathogenicity
PEX26
(R248H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX26
(Y299fs +1 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+3 more
GUncertain significance
PEX26
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GBenign
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