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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX11B
(R256Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX11B
(R256* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
PEX11B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PEX11B
(V235M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(R229C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(L225R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(L218F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(P205S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(R199Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(R191Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
PEX11B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
PEX11B
(G162R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
PEX11B
(C153Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
PEX11B
(E149K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(F129L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PEX11B
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
PEX11B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PEX11B
(E117del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
PEX11B
(D100G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(A94V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(R93* +1 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 14B
+1 more
GPathogenic/Likely pathogenic
PEX11B
(N92I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(N92S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(V80I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
PEX11B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX11B
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
PEX11B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PEX11B
(L28del +1 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
PEX11B
(A21S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX11B
(R14Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX11B
(A3V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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