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Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATAD1, PEX1
(R1275* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+2 more
GUncertain significance
GATAD1, PEX1
(S1062fs +2 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
PEX1, GATAD1
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Duplication
(splice donor variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
PEX1, GATAD1
(S1246fs +2 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
(Q1174fs +2 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder
+5 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(S1001fs +2 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1, GATAD1
(D1137fs +2 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
GATAD1, PEX1
(Q1192* +2 more)
Single nucleotide variant
(nonsense)
PEX1-related disorder
+3 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(E1183* +2 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
GATAD1, PEX1
(A1096fs +2 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
GATAD1, PEX1
(S1152fs +2 more)
Microsatellite
(frameshift variant)
Zellweger spectrum disorders
+4 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1, GATAD1
Deletion
(nonsense)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
GATAD1, PEX1
(L1024fs +2 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1, GATAD1
Single nucleotide variant
(splice acceptor variant)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
GATAD1, PEX1
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1, GATAD1
(L1026P +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+4 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(R1013H +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+3 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(R998* +2 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
+3 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GLikely pathogenic
GATAD1, PEX1
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder
+5 more
GPathogenic/Likely pathogenic
PEX1, GATAD1
(L917fs +2 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder
+3 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(G973fs +2 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder
+6 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(R959* +2 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 1A (Zellweger)
+4 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(T746fs +2 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(H743fs +2 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(R949Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(R948Q +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+3 more
GUncertain significance
PEX1, GATAD1
(D940del +2 more)
Microsatellite
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
(P934fs +2 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+4 more
GPathogenic/Likely pathogenic
PEX1
(A921fs +2 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+2 more
GPathogenic/Likely pathogenic
PEX1
(L702fs +2 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+4 more
GPathogenic/Likely pathogenic
PEX1
(P908fs +2 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
Single nucleotide variant
(splice acceptor variant)
Zellweger spectrum disorders
+2 more
GLikely pathogenic
PEX1
(R896* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
PEX1
(L879del +2 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX1
(Q873* +2 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(D840del +2 more)
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
+1 more
GUncertain significance
PEX1
(N622fs +2 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1
(N773fs +2 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+1 more
GLikely pathogenic
PEX1
Duplication
(inframe_insertion)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
(R798fs +2 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder
+3 more
GPathogenic/Likely pathogenic
PEX1
(R795* +2 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder
+5 more
GPathogenic/Likely pathogenic
PEX1
(V788A +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+1 more
GUncertain significance
PEX1
(K754del +2 more)
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
(Q744* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
PEX1
(L513fs +2 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
Duplication
(inframe_insertion)
Zellweger spectrum disorders
+1 more
GUncertain significance
PEX1
(Q713* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
PEX1
Single nucleotide variant
(intron variant +1 more)
Zellweger spectrum disorders
+1 more
GLikely pathogenic
PEX1
Deletion
(inframe_deletion +1 more)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
(H470fs +1 more)
Microsatellite
(frameshift variant +1 more)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
PEX1
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
PEX1
(L664P +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 1B
+4 more
GLikely pathogenic
PEX1
(V450fs +1 more)
Duplication
(frameshift variant +1 more)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(T643fs +1 more)
Duplication
(frameshift variant +1 more)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX1
(K642fs +1 more)
Indel
(frameshift variant +1 more)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(Q641* +1 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(R636fs +1 more)
Deletion
(frameshift variant +1 more)
Zellweger spectrum disorders
+2 more
GPathogenic/Likely pathogenic
PEX1
(R633* +1 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
+4 more
GPathogenic/Likely pathogenic
PEX1
Deletion
(nonsense)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
PEX1
(E407fs +1 more)
Deletion
(frameshift variant)
not provided
+6 more
GPathogenic/Likely pathogenic
PEX1
(K406fs +1 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX1
(G593R +1 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+2 more
GConflicting classifications of pathogenicity
PEX1
(G589* +1 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(R577S +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
(H364fs +1 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+4 more
GPathogenic/Likely pathogenic
PEX1
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
Single nucleotide variant
(splice donor variant)
Zellweger spectrum disorders
+2 more
GLikely pathogenic
PEX1
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
PEX1
(L532del +1 more)
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GLikely pathogenic
PEX1
Microsatellite
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
(E510* +1 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
PEX1
(E510fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 1
+2 more
GLikely pathogenic
PEX1
(E508fs +1 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+2 more
GPathogenic/Likely pathogenic
PEX1
(L293fs +1 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX1
(L272fs +1 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1
(Q472* +1 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(D378fs +1 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1
Deletion
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
(I370fs +1 more)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PEX1
(K359fs +1 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX1
(K151fs +1 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(S304fs +1 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX1
Microsatellite
(nonsense)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(Q261fs +1 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder
+6 more
GPathogenic/Likely pathogenic
PEX1
(S46fs +1 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GLikely pathogenic
PEX1
(L245fs +1 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 1B
+1 more
GLikely pathogenic
PEX1
(T7fs +1 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder
+3 more
GPathogenic/Likely pathogenic
PEX1
(M209I +1 more)
Single nucleotide variant
(missense variant +1 more)
Zellweger spectrum disorders
+5 more
GConflicting classifications of pathogenicity
PEX1
(D193G)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
PEX1
(S190*)
Single nucleotide variant
(nonsense +1 more)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1
(R183*)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 1B
+4 more
GPathogenic/Likely pathogenic
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