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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX5
(L562fs +6 more)
Duplication
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 5
GLikely pathogenic
PEX5
(S51G)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 2B
+2 more
GLikely pathogenic
PEX5
(D621N +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+2 more
GUncertain significance
PEX5
Indel
(inframe_deletion +1 more)
Peroxisome biogenesis disorder 2B
+2 more
GLikely pathogenic
PEX5
(I222V +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 2A (Zellweger)
+2 more
GUncertain significance
PEX5
Microsatellite
(splice donor variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX5
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 5
+3 more
GBenign
PEX5
(R77H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX5
(M626I +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+3 more
GConflicting classifications of pathogenicity
PEX5
(G178E +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2A (Zellweger)
+3 more
GUncertain significance
PEX5
(M272T +3 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+3 more
GBenign
PEX5
(S597N +6 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 2B
+5 more
GConflicting classifications of pathogenicity
PEX5
(V242fs +1 more)
Duplication
(frameshift variant +1 more)
Rhizomelic chondrodysplasia punctata
GPathogenic
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