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Links from MedGen

Items: 1 to 100 of 182

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX1
(Q562* +2 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
+1 more
GPathogenic/Likely pathogenic
PEX1
(M248fs +1 more)
Duplication
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(G385* +1 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
PEX1
(L245fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
(A738fs +2 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
Single nucleotide variant
(splice acceptor variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(L272fs +1 more)
Duplication
(frameshift variant)
Heimler syndrome 1
GPathogenic
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(G394* +1 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
PEX1
(E117*)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 1
GLikely pathogenic
PEX1
(L343* +1 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
(H1032fs +2 more)
Duplication
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(L657fs +2 more)
Duplication
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
(G1106fs +2 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
(E1000* +2 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
PEX1
(D716fs +2 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(I249fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(Q321* +1 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
LOC129998796, PEX1
(W2fs)
Microsatellite
(frameshift variant +2 more)
Heimler syndrome 1
GLikely pathogenic
LOC129998796, PEX1
(V19fs)
Microsatellite
(frameshift variant +1 more)
Heimler syndrome 1
+1 more
GPathogenic
PEX1
Single nucleotide variant
(splice acceptor variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
Indel
(nonsense)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
(L1120fs +2 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+1 more
GPathogenic
PEX1
(L388fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
Microsatellite
Heimler syndrome 1
+1 more
GPathogenic
PEX1
(R590G +2 more)
Single nucleotide variant
(missense variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(R369fs +1 more)
Indel
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
LOC129998796, PEX1
(A15fs)
Deletion
(frameshift variant +1 more)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(Q1112* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1
(E269fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(F189fs)
Duplication
(frameshift variant +1 more)
Heimler syndrome 1
GLikely pathogenic
PEX1
Single nucleotide variant
(splice donor variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(N485fs +2 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(W246* +1 more)
Duplication
(nonsense)
Heimler syndrome 1
GLikely pathogenic
PEX1
(E276* +1 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
(Q1023* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1
(M276fs +1 more)
Duplication
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
LOC129998796, PEX1
(S4fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PEX1
(Q11fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
PEX1
(Q128*)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 1
GPathogenic
PEX1
(S102fs)
Indel
(frameshift variant +1 more)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
Deletion
(splice donor variant)
Heimler syndrome 1
GLikely pathogenic
PEX1, GATAD1
(S1024* +2 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
PEX1
(V296* +1 more)
Microsatellite
(nonsense)
Heimler syndrome 1
GPathogenic
PEX1
(I320fs +1 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder
+2 more
GPathogenic/Likely pathogenic
PEX1
(A460fs +1 more)
Duplication
(frameshift variant +1 more)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Zellweger spectrum disorders
+1 more
GLikely pathogenic
PEX1
Single nucleotide variant
(splice donor variant)
Zellweger spectrum disorders
+1 more
GLikely pathogenic
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Heimler syndrome 1
+1 more
GLikely pathogenic
GATAD1, PEX1
(G1139E +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Zellweger spectrum disorders
+1 more
GLikely pathogenic
PEX1
(Q85* +1 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1
(P448S +1 more)
Single nucleotide variant
(missense variant +1 more)
Heimler syndrome 1
GUncertain significance
GATAD1, PEX1
(F1029fs +2 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 1B
+3 more
GPathogenic/Likely pathogenic
PEX1
(Q69*)
Single nucleotide variant
(nonsense +1 more)
Heimler syndrome 1
+3 more
GPathogenic/Likely pathogenic
PEX1
Single nucleotide variant
(intron variant)
Heimler syndrome 1
GPathogenic
PEX1
Single nucleotide variant
(5 prime UTR variant +1 more)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
PEX1
(A423fs +1 more)
Deletion
(frameshift variant)
Heimler syndrome 1
+2 more
GPathogenic/Likely pathogenic
PEX1
(S70fs +1 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+2 more
GPathogenic/Likely pathogenic
PEX1
(N195fs +1 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+1 more
GPathogenic
PEX1
(Q240* +1 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1
(G90fs)
Deletion
(frameshift variant +1 more)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(R1208fs +2 more)
Deletion
(frameshift variant)
Heimler syndrome 1
+3 more
GPathogenic/Likely pathogenic
PEX1
(L618fs +2 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+1 more
GPathogenic
LOC129998796, PEX1
(V19fs)
Deletion
(frameshift variant +1 more)
Zellweger spectrum disorders
+4 more
GPathogenic/Likely pathogenic
PEX1
(Q111* +1 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
+1 more
GPathogenic/Likely pathogenic
PEX1
(P680fs +1 more)
Deletion
(frameshift variant +1 more)
Zellweger spectrum disorders
+2 more
GPathogenic/Likely pathogenic
PEX1
(V257fs +1 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+2 more
GPathogenic/Likely pathogenic
PEX1
(Q159fs +1 more)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder due to PEX1 defect
+3 more
GPathogenic/Likely pathogenic
PEX1
(L671S +2 more)
Single nucleotide variant
(missense variant)
Heimler syndrome 1
+1 more
GConflicting classifications of pathogenicity
PEX1
(Q607* +2 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 1A (Zellweger)
+1 more
GLikely pathogenic
GATAD1, PEX1
(S1017I +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1B
+2 more
GUncertain significance
PEX1
(H364Q +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GUncertain significance
PEX1
(I492T +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GUncertain significance
GATAD1, PEX1
(E1134A +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1B
+2 more
GUncertain significance
PEX1
(H101Q +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1B
+2 more
GUncertain significance
PEX1
(G355D +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1B
+2 more
GUncertain significance
PEX1
(G684E +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1B
+3 more
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous 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
Microsatellite
(nonsense)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1, GATAD1
(C1093* +2 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
+1 more
GPathogenic
GATAD1, PEX1
(R1013C +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+2 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(splice donor variant)
Heimler syndrome 1
+1 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
(D750fs +2 more)
Indel
(frameshift variant)
Heimler syndrome 1
+1 more
GConflicting classifications of pathogenicity
PEX1
(S241P +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1B
+3 more
GConflicting classifications of pathogenicity
PEX1
(R537S +2 more)
Single nucleotide variant
(missense variant)
Heimler syndrome 1
GUncertain significance
PEX1
(R479W +1 more)
Single nucleotide variant
(missense variant +1 more)
Zellweger spectrum disorders
+2 more
GUncertain significance
PEX1
(V734I +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+6 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
+3 more
GUncertain significance
PEX26
(L169P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 7A (Zellweger)
+1 more
GUncertain significance
GATAD1, PEX1
(G1061fs +2 more)
Duplication
(frameshift variant)
Heimler syndrome 1
+2 more
GPathogenic
PEX1
Single nucleotide variant
(intron variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PEX1
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX1
(Q478R +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 1A (Zellweger)
+4 more
GUncertain significance
GATAD1, PEX1
(L967fs +2 more)
Microsatellite
(frameshift variant)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
PEX1
(R577fs +1 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+2 more
GPathogenic
GATAD1, PEX1
Deletion
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
PEX1
(E168fs +1 more)
Deletion
(frameshift variant)
Zellweger spectrum disorders
+3 more
GPathogenic/Likely pathogenic
PEX1
(M487fs +2 more)
Deletion
(frameshift variant)
Heimler syndrome 1
+3 more
GPathogenic
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