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Links from MedGen

Items: 1 to 100 of 514

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
PEX13-related disorder
+1 more
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PUS10, PEX13
Single nucleotide variant
(intron variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(I291fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(T49fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13
(W267*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
Single nucleotide variant
(intron variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+1 more
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
(P8fs)
Duplication
(intron variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(T70A)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(A295S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13, PUS10
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(L199*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13
(S144fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13, PUS10
(K10fs)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13, PUS10
Single nucleotide variant
(intron variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely pathogenic
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(V286fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(R226*)
Single nucleotide variant
(nonsense)
PEX13-related disorder
+1 more
GPathogenic
PEX13
(Y248*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 11A (Zellweger)
GPathogenic
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13, PUS10
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
Duplication
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
Deletion
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
Deletion
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
(G216A)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
(Y85C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
+1 more
GLikely benign
PEX13
(S97G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
(G99V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PUS10, PEX13
(T29A)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
(D282E)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
PEX13
(H174Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PEX13
(P114A)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
(G128R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13, PUS10
(P9H)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
(I394V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GUncertain significance
PEX13
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 11A (Zellweger)
GLikely benign
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