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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX13
(S77T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX13
(G86E)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+1 more
GUncertain significance
PEX13
(F118Y)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+2 more
GUncertain significance
PEX13
(V119I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX13
(R189L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX13
(Y190C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX13
(R294W)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+3 more
GConflicting classifications of pathogenicity
PEX13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX13
(S354C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX13
(P358A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX13
(S369Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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