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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX7
Single nucleotide variant
(5 prime UTR variant)
Phytanic acid storage disease
Gnot provided
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
+3 more
GConflicting classifications of pathogenicity
PEX7
(A218V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+3 more
GPathogenic/Likely pathogenic
PEX7
(L292*)
Single nucleotide variant
(nonsense)
PEX7-related condition
+5 more
GPathogenic
PEX7
Single nucleotide variant
(splice donor variant)
PEX7-Related Disorders
+4 more
GPathogenic
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