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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998796, PEX1
(A24P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129998796, PEX1
(A8E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129998796, PEX1
Single nucleotide variant
(5 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GBenign/Likely benign
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