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Links from MedGen

Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX6
(S719fs +1 more)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(S220fs +1 more)
Indel
(frameshift variant +1 more)
Heimler syndrome 2
GPathogenic
PEX6
(C539* +1 more)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(C396* +1 more)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(Q512fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(P722fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(L766fs +1 more)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(N280*)
Duplication
(nonsense +2 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(G325fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(A370fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(Q593* +1 more)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(R800fs +1 more)
Microsatellite
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(L720fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(A413fs +1 more)
Microsatellite
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
Deletion
(splice donor variant)
Heimler syndrome 2
GLikely pathogenic
PEX6
(Q258* +1 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX6
Single nucleotide variant
(splice donor variant)
Heimler syndrome 2
GLikely pathogenic
PEX6
(A557fs +1 more)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(E596* +1 more)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(Y312* +1 more)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(A85fs)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(L277*)
Single nucleotide variant
(nonsense +2 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(T521fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(C167fs)
Microsatellite
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
Duplication
Heimler syndrome 2
GLikely pathogenic
PEX6
(P18fs)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(P100fs)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(E66*)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
Single nucleotide variant
(splice donor variant)
Heimler syndrome 2
GLikely pathogenic
PEX6
(V808fs +1 more)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(P658fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 2
GLikely pathogenic
PEX6
Single nucleotide variant
(splice acceptor variant)
Heimler syndrome 2
GPathogenic
PEX6
(K839fs +1 more)
Indel
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(G135fs)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
+1 more
GPathogenic
PEX6
(G473fs +1 more)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
+1 more
GPathogenic
PEX6
(E320fs +1 more)
Microsatellite
(frameshift variant +1 more)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
(W224fs)
Duplication
(frameshift variant +2 more)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
(E772fs +1 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX6
(Y331* +1 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX6
(G583fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX6
(W105*)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
+1 more
GPathogenic
PEX6
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder
+1 more
GLikely pathogenic
PEX6
(V606I +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder
+3 more
GUncertain significance
PEX6
(R626W +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder
GUncertain significance
PEX6
(E230fs)
Microsatellite
(frameshift variant +2 more)
Heimler syndrome 2
+1 more
GPathogenic
PEX6
(K218fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX6
(E508fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX6
(I362fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
(P384fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
+2 more
GPathogenic/Likely pathogenic
PEX6
(E504* +1 more)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
(S355fs +1 more)
Duplication
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX6
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 4A (Zellweger)
+3 more
GBenign
PEX6
Single nucleotide variant
(synonymous variant +1 more)
Heimler syndrome 2
+3 more
GLikely benign
PEX6
(W249*)
Single nucleotide variant
(nonsense +2 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX6
(C476fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
(R255fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX6
Single nucleotide variant
(splice donor variant)
Heimler syndrome 2
+1 more
GLikely pathogenic
PEX6
(R517W +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder
+1 more
GUncertain significance
PEX6
(P609S +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+1 more
GUncertain significance
PEX6
(R487Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder
+1 more
GUncertain significance
PEX6
Single nucleotide variant
(non-coding transcript variant +1 more)
Peroxisome biogenesis disorder
+3 more
GUncertain significance
PEX6
(R772Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+2 more
GLikely pathogenic
PEX6
(E664D +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX6
(A311T +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+4 more
GUncertain significance
PEX6
Single nucleotide variant
(splice acceptor variant)
Heimler syndrome 2
+1 more
GLikely pathogenic
PEX6
(R458C +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+3 more
GUncertain significance
PEX6
(R888P +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX6
(R644Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+4 more
GUncertain significance
PEX6
(I845T +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+3 more
GUncertain significance
PEX6
(A824V +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+4 more
GPathogenic/Likely pathogenic
PEX6
Single nucleotide variant
(splice donor variant)
Heimler syndrome 2
GLikely pathogenic
PEX6
Single nucleotide variant
(non-coding transcript variant +1 more)
Heimler syndrome 2
+1 more
GLikely pathogenic
PEX6
(R726fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
(Q692* +1 more)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
Microsatellite
(splice acceptor variant)
Heimler syndrome 2
+1 more
GPathogenic/Likely pathogenic
PEX6
(R601W +1 more)
Single nucleotide variant
(missense variant +1 more)
PEX6-related condition
+4 more
GConflicting classifications of pathogenicity
PEX6
(L57P)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+2 more
GLikely pathogenic
PEX6
(E129V)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
GLikely pathogenic
PEX6
(I712fs +1 more)
Indel
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+2 more
GPathogenic
PEX6
(M411V +1 more)
Single nucleotide variant
(missense variant +1 more)
PEX6-related condition
+2 more
GConflicting classifications of pathogenicity
PEX6
(G437D +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder
+2 more
GConflicting classifications of pathogenicity
PEX6
(C647* +1 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX6
Single nucleotide variant
(intron variant)
Heimler syndrome 2
+3 more
GBenign
PEX6
(F12S)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+3 more
GConflicting classifications of pathogenicity
PEX6
(P136fs)
Indel
(frameshift variant +1 more)
Heimler syndrome 2
+2 more
GLikely pathogenic
PEX6
(E15fs)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
+2 more
GLikely pathogenic
PEX6
(G413V +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+1 more
GUncertain significance
PEX6
(V788M +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+4 more
GConflicting classifications of pathogenicity
PEX6
(D268fs)
Deletion
(frameshift variant +2 more)
Heimler syndrome 2
+3 more
GPathogenic
PEX6
(R812Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+4 more
GPathogenic/Likely pathogenic
PEX6
(E169fs)
Microsatellite
(frameshift variant +1 more)
Heimler syndrome 2
+3 more
GPathogenic/Likely pathogenic
PEX6
(R786W +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder
+4 more
GConflicting classifications of pathogenicity
PEX6
(R726fs +1 more)
Duplication
(frameshift variant +1 more)
Heimler syndrome 2
+2 more
GLikely pathogenic
PEX6
(G607fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 4A (Zellweger)
+4 more
GPathogenic/Likely pathogenic
PEX6
Duplication
(inframe_insertion +1 more)
Peroxisome biogenesis disorder 4B
+3 more
GUncertain significance
PEX6
(R876W +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 2
+4 more
GConflicting classifications of pathogenicity
PEX6
Single nucleotide variant
(splice donor variant)
Heimler syndrome 2
+3 more
GLikely pathogenic
PEX6
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 4A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
PEX6
(R163P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PEX6
(F714fs +1 more)
Deletion
(frameshift variant +1 more)
Heimler syndrome 2
GLikely pathogenic
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