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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX7
(Q126P)
Single nucleotide variant
(missense variant)
Phytanic acid storage disease
+5 more
GBenign/Likely benign
PEX7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PEX7
(L278F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
GUncertain significance
PEX7
(L292*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 9B
+5 more
GPathogenic
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