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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX16
Single nucleotide variant
(3 prime UTR variant +1 more)
Peroxisome biogenesis disorder 8B
+2 more
GLikely benign
PEX16
(R293C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 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)
PEX16-related disorder
+5 more
GUncertain significance
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