U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX2
(L290R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+1 more
GUncertain significance
PEX2
(W250R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PEX2
(Q96*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
(Y70C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX2
(Q31E)
Single nucleotide variant
(missense variant)
PEX2-related condition
+4 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination