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Links from MedGen

Items: 1 to 100 of 423

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX26
(Y110*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
PEX26
(P24fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
PEX26
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 7A (Zellweger)
GPathogenic
PEX26
(Q146*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 7A (Zellweger)
GPathogenic
PEX26
(Q132*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
PEX26
(S64fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
GPathogenic
PEX26
Single nucleotide variant
(splice donor variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
LOC130066940, PEX26
(R20fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
PEX26
(Y156*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
PEX26
(L121fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
PEX26
(L127E)
Indel
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
GLikely pathogenic
PEX26
(R253G +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(L15F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(R20H)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(R31W)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(R60Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(V35M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7B
+1 more
GUncertain significance
PEX26
(H229Y +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Microsatellite
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(P117L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(Q111H)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Microsatellite
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(S242fs)
Microsatellite
(frameshift variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GPathogenic
PEX26
(E95K)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(L79S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(A258D)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(K253*)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GPathogenic
PEX26
(L49V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(K207T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(L79F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(G188A)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(L237V +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(H200Y)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(Q300H +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(K119R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(L262V)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(D256N +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(D241N)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(A41T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(P113S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(A92T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(L138M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(E40G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(E59K)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7B
+1 more
GUncertain significance
PEX26
(Q111K)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(P148fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GPathogenic
PEX26
(A75V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(A75G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(R52fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GPathogenic
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(S247Y +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(E73V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(Y110fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GPathogenic
PEX26
(K82R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(L193M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(H210R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Deletion
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(D36G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7B
+2 more
GUncertain significance
PEX26
(Q165K)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(R253H +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(R291Q +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(Q165R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(N150D)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GLikely benign
PEX26
(A158D)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(G76V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(C58W)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(L12P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(M131I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
PEX26
(R248H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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