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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX12
(A36I)
Indel
(missense variant)
Peroxisome biogenesis disorder type 3B
GUncertain significance
PEX12
(P191T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder type 3B
GUncertain significance
PEX12
(V286I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GUncertain significance
PEX12
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder type 3B
+1 more
GBenign
PEX12
(G321fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
(F330fs)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder
+2 more
GConflicting classifications of pathogenicity
PEX12
(M30fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GLikely pathogenic
PEX12
(P215fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
(M1fs)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder type 3B
+1 more
GLikely pathogenic
PEX12
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder type 3B
+1 more
GUncertain significance
PEX12
(P357fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GUncertain significance
PEX12
(Q349del)
Microsatellite
(inframe_deletion)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
(Q209*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX12
(T342fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GUncertain significance
PEX12
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder type 3B
+1 more
GLikely pathogenic
PEX12
(Y74*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder type 3B
+1 more
GUncertain significance
PEX12
(T249fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
PEX12
(L258fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
(T64fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GLikely pathogenic
PEX12
(D262fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GPathogenic/Likely pathogenic
PEX12
Duplication
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GPathogenic/Likely pathogenic
PEX12
Inversion
(nonsense)
Peroxisome biogenesis disorder type 3B
+1 more
GLikely pathogenic
PEX12
(Q222*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GLikely pathogenic
PEX12
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder type 3B
+1 more
GUncertain significance
PEX12
(Y326*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder type 3B
+1 more
GLikely pathogenic
PEX12
(S229fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GLikely pathogenic
PEX12
(R202*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic
PEX12
(R154*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX12
(W263*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GPathogenic/Likely pathogenic
PEX12
(Q71*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
(Q17*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
Duplication
(inframe_insertion)
not provided
+2 more
GUncertain significance
PEX12
Deletion
(inframe_indel)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GUncertain significance
PEX12
(L75fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GPathogenic/Likely pathogenic
PEX12
(L70del)
Microsatellite
(inframe_deletion)
Peroxisome biogenesis disorder 3A (Zellweger)
+2 more
GUncertain significance
PEX12
(S246Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX12
(K90fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PEX12
(M118V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PEX12
(Q337*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder type 3B
+2 more
GConflicting classifications of pathogenicity
PEX12
(Q178del)
Microsatellite
(inframe_deletion)
Peroxisome biogenesis disorder 3A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX12
(L123del)
Microsatellite
(inframe_deletion)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX12
(S229fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+1 more
GPathogenic/Likely pathogenic
PEX12
(L245fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder
+4 more
GPathogenic/Likely pathogenic
PEX12
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder
+3 more
GPathogenic/Likely pathogenic
PEX12
(M118T)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
+1 more
GUncertain significance
PEX12
(I117V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 3A (Zellweger)
+3 more
GUncertain significance
PEX12
(Q112*)
Single nucleotide variant
(nonsense)
PEX12-related condition
+3 more
GPathogenic/Likely pathogenic
PEX12
Single nucleotide variant
(5 prime UTR variant)
Peroxisome biogenesis disorder type 3B
+2 more
GUncertain significance
PEX12
Deletion
(frameshift variant)
Peroxisome biogenesis disorder type 3B
+2 more
GPathogenic/Likely pathogenic
PEX12
(L297fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic
PEX12
(R34S)
Single nucleotide variant
(missense variant)
PEX12-related condition
+4 more
GBenign/Likely benign
PEX12
(L317F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder type 3B
+1 more
GUncertain significance
PEX12
(R180*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder type 3B
+2 more
GPathogenic
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