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Items: 1 to 100 of 286

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX3
(W6R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(W6*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PEX3
(N7S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(L9Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(K10Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(T21M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(G24R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
(G25E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(V26I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(G30R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 10A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX3
(E39fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(E44K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(I49V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(R53*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEX3
(R53Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(R54*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEX3
(R54Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX3
(Q55P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 10A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX3
(H57R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(N61K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(N66S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(V69fs)
Duplication
(frameshift variant)
not provided
GPathogenic
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(S71F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(M72V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(P74A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(L76fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(A79T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(Q82W)
Inversion
(missense variant)
not provided
GLikely benign
PEX3
(Q82R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PEX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(N85S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(E87K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
Deletion
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Duplication
(intron variant)
not provided
GBenign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PEX3
(S98fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PEX3
(N99D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(I109V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(I110del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Microsatellite
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Duplication
(intron variant)
not provided
GBenign
PEX3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PEX3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PEX3
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 10A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX3
(T113I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(R114G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(R114I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(T116A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(Y120*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PEX3
(M124T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
(M124I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PEX3
(V127A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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