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Items: 1 to 100 of 144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATAD1, PEX1
(R1275Q +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(E1258K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GATAD1, PEX1
(Q1231R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX1, GATAD1
Single nucleotide variant
(synonymous variant)
PEX1-related condition
+2 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(I1200F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GATAD1, PEX1
(Q1173* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
GATAD1, PEX1
(Q1169fs +2 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+1 more
GPathogenic
GATAD1, PEX1
(D1168G +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+4 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
+1 more
GBenign/Likely benign
PEX1, GATAD1
Deletion
(inframe_deletion)
Zellweger spectrum disorders
+3 more
GUncertain significance
GATAD1, PEX1
(S1133F +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
GATAD1, PEX1
(M1125L +2 more)
Single nucleotide variant
(missense variant)
Heimler syndrome 1
+4 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(N1124S +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+2 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(C1045fs +2 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+4 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(D1095N +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder due to PEX1 defect
+5 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(M1084V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
+4 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(G1044R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
GATAD1, PEX1
(A1036S +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+5 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(L1026P +2 more)
Single nucleotide variant
(missense variant)
Heimler syndrome 1
+4 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(P1025A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GATAD1, PEX1
(S1021N +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
GATAD1, PEX1
(E1015A +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+4 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(V1011M +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+4 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(P1008del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(intron variant)
PEX1-related condition
+3 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(G976C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GATAD1, PEX1
(G973fs +2 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+6 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
GATAD1, PEX1
(R959Q +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
+3 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(N953K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GATAD1, PEX1
(R948W +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(P947S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GATAD1, PEX1
(A931D +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+3 more
GConflicting classifications of pathogenicity
PEX1
(A917V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PEX1
(R896Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX1
(P882L +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+2 more
GConflicting classifications of pathogenicity
PEX1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX1
(L879del +2 more)
Microsatellite
(inframe_deletion)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX1
Deletion
(intron variant)
not provided
GUncertain significance
PEX1
Duplication
(intron variant)
not specified
+2 more
GBenign
PEX1
Deletion
(intron variant)
Zellweger spectrum disorders
+6 more
GConflicting classifications of pathogenicity
PEX1
Deletion
(intron variant)
Zellweger spectrum disorders
+3 more
GConflicting classifications of pathogenicity
PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
+3 more
GBenign/Likely benign
PEX1
(G843D +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+10 more
GPathogenic
PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
+1 more
GConflicting classifications of pathogenicity
PEX1
(P615fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
+3 more
GConflicting classifications of pathogenicity
PEX1
(S743fs +2 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
PEX1
(R795* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+5 more
GPathogenic/Likely pathogenic
PEX1
(I792T +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
PEX1
(R790G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX1
Single nucleotide variant
(synonymous variant)
Heimler syndrome 1
+5 more
GBenign
PEX1
(L757F +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GBenign
PEX1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX1
(Q744* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
PEX1
(I643fs +2 more)
Duplication
(frameshift variant)
PEX1-related condition
+9 more
GPathogenic
PEX1
(M695T +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GConflicting classifications of pathogenicity
PEX1
(R687Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Zellweger spectrum disorders
+1 more
GUncertain significance
PEX1
(A682V +1 more)
Single nucleotide variant
(intron variant +1 more)
Zellweger spectrum disorders
+1 more
GConflicting classifications of pathogenicity
PEX1
(P674L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PEX1
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
PEX1
(V659F +1 more)
Single nucleotide variant
(missense variant +1 more)
PEX1-related condition
+3 more
GUncertain significance
PEX1
Duplication
(inframe_insertion +1 more)
Heimler syndrome 1
+5 more
GConflicting classifications of pathogenicity
PEX1
(V652L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX1
(A651T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX1
(E638A +1 more)
Single nucleotide variant
(missense variant +1 more)
Zellweger spectrum disorders
+2 more
GUncertain significance
PEX1
(A631D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
+1 more
GBenign/Likely benign
PEX1
Single nucleotide variant
(synonymous variant)
PEX1-related condition
+3 more
GConflicting classifications of pathogenicity
PEX1
(L567V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX1
(E543K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX1
(T527A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
PEX1
(I503V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX1
Deletion
(intron variant)
not provided
GUncertain significance
PEX1
(V481I +1 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+3 more
GConflicting classifications of pathogenicity
PEX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX1
(Q471R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX1
(W469C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX1
(E460D +1 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+3 more
GConflicting classifications of pathogenicity
PEX1
Single nucleotide variant
(intron variant)
PEX1-related condition
+4 more
GConflicting classifications of pathogenicity
PEX1
Single nucleotide variant
(intron variant)
Heimler syndrome 1
+3 more
GConflicting classifications of pathogenicity
PEX1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PEX1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX1
(A428V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX1
(I424T +1 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
PEX1
(R419K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX1
(D417N +1 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+5 more
GUncertain significance
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