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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX16
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign/Likely benign
PEX16
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder
+2 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
PEX16
(D308H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PEX16
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder
+2 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder
+2 more
GConflicting classifications of pathogenicity
PEX16
(R293C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+4 more
GUncertain significance
PEX16
(D292N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX16
(I279V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX16
(L274M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX16
(R271Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+2 more
GUncertain significance
PEX16
(R271L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX16
(R268W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX16
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
PEX16
(V251I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX16
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX16
(T211I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX16
(A208V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+1 more
GUncertain significance
PEX16
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
PEX16
(R198Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX16
(Q193R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX16
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX16
(V167M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PEX16
(S158G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX16
(D154G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+5 more
GUncertain significance
PEX16
(P139S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX16
(R124W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX16
(A114T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX16
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX16
(V88M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+4 more
GConflicting classifications of pathogenicity
PEX16
(R70W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX16
(E68D)
Single nucleotide variant
(missense variant)
PEX16-related condition
+4 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder
+1 more
GUncertain significance
PEX16
(H44Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX16
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PEX16
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX16
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
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