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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNMT, PEX6
Microsatellite
(3 prime UTR variant +1 more)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX6
(N761fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
PEX6
(A707V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX6
(G621R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX6
(L595P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX6
(A588fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
PEX6
(G583fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX6
(I562fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+3 more
GPathogenic/Likely pathogenic
PEX6
(R601Q +1 more)
Single nucleotide variant
(missense variant +1 more)
PEX6-related disorder
+7 more
GConflicting classifications of pathogenicity
PEX6
(A586V +1 more)
Single nucleotide variant
(missense variant +1 more)
PEX6-related disorder
+3 more
GConflicting classifications of pathogenicity
PEX6
(R487W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX6
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PEX6
(N557S +1 more)
Single nucleotide variant
(missense variant +1 more)
PEX6-related disorder
+3 more
GConflicting classifications of pathogenicity
PEX6
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
PEX6
(S355fs +1 more)
Duplication
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX6
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
PEX6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX6
(P168L)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+2 more
GUncertain significance
PEX6
(R163P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PEX6
(V54G)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder
+1 more
GUncertain significance
PEX6
(G27A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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