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Links from MedGen

Items: 1 to 100 of 462

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(V41fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(S28N)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(L297*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(T277fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(W152*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(N233fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(S190*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(I273fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(T204fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Deletion
(intron variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(A2fs)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(A196P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(Q259*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(S47*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic/Likely pathogenic
PEX12
(Q111fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely pathogenic
PEX12
(D293fs)
Insertion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely pathogenic
PEX12
(L192fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic/Likely pathogenic
PEX12
(L122fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely pathogenic
AP2B1, GAS2L2
+10 more
Duplication
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(Q17H)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(Y181fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(L179F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(L297V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(H39R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(V121F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(L276S)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(K42Q)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(I182M)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(P35T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(Y74H)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(V316G)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(T78I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(R327C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(L261F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(Y143C)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(E139K)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(N291T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GUncertain significance
PEX12
(V286A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Microsatellite
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(L296fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(L133P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(K153fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Deletion
(splice donor variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(L175R)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(Y181*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic/Likely pathogenic
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(Y125F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
(K90fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
(P282A)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(D96fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
PEX12
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(L70del)
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GLikely benign
PEX12
(V243I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
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