U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX16
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GLikely benign
PEX16
(R293C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+4 more
GUncertain significance
PEX16
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder
+4 more
GConflicting classifications of pathogenicity
PEX16
(D154G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+5 more
GUncertain significance
Format
Sort by
Choose Destination