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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX3
(G30R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX3
(N61K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(N85S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PEX3
Microsatellite
(splice donor variant)
not provided
GPathogenic
PEX3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PEX3
(R130Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PEX3
(Q132H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
PEX3
(P158R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX3
(S167G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX3
(L179F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX3
(V216I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PEX3
Single nucleotide variant
(intron variant)
PEX3-related condition
+1 more
GConflicting classifications of pathogenicity
PEX3
(R286*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEX3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PEX3
(R300Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX3
(H308L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PEX3
(V318G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
(T367I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
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