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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX16
(R277L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8B
GUncertain significance
PEX16
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 8B
GUncertain significance
PEX16
(R227G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8B
GLikely pathogenic
PEX16
(R277W)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+1 more
GConflicting classifications of pathogenicity
MMUT
(R655C)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+4 more
GConflicting classifications of pathogenicity
PEX16
(V116I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
PEX16
(R287C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX16
(D154G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+5 more
GUncertain significance
PEX16
(V88M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 8A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX16
(V254L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PEX16
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GLikely benign
PEX16
(R293C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+4 more
GUncertain significance
PEX16
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
PEX16
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
PEX16
(F332del)
Deletion
(inframe_deletion +1 more)
Peroxisome biogenesis disorder 8B
GLikely pathogenic
PEX16
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder
+4 more
GConflicting classifications of pathogenicity
PEX16
Deletion
(splice acceptor variant)
Peroxisome biogenesis disorder 8B
GPathogenic
PEX16
(Y331C)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 8B
GPathogenic
PEX16
(I330fs)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 8B
GPathogenic
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