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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX13, PUS10
(F30S)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
+3 more
GUncertain significance
PEX13
(Y93C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+2 more
GUncertain significance
PEX13
(R197W)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX13
(L199I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+1 more
GUncertain significance
PEX13
(R226Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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