U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 440

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(Y95*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(F157fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(A107fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(Y106*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(I297M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(E168*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
(L123fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
(I104fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(W65fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(N87fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(R66fs)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(H174fs)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(S270*)
Insertion
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(Y277*)
Indel
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(S79fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(W61*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic/Likely pathogenic
PEX2
(C184fs)
Indel
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(C264fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(F132fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(P226fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
(Y85fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely pathogenic
PEX2
Deletion
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
(C224Y)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(L15P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(G47E)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(L146S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PEX2
(L48P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(R169H)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(I225V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(A11E)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(N192S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(M253V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(P251L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(L195P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(L246P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(W105*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic/Likely pathogenic
PEX2
(V80I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(S90T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(R169C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(F163C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(E6Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(L204fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic/Likely pathogenic
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(R119Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(A74V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(T167I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(P251R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(T239S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(Q159*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 5A (Zellweger)
GPathogenic
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(F37I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(V176I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(R125G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(D122V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(F41Y)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(I143M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(L93P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(W34S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(A304V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(S295L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
PEX2
(G229R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
(A201T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GUncertain significance
PEX2
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 5A (Zellweger)
GLikely benign
Format
Items per page
Sort by
Choose Destination