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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX7
(G7fs)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 9B
+1 more
GPathogenic/Likely pathogenic
PEX7
(H18fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
(T14P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX7
(G217R)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
+3 more
GPathogenic/Likely pathogenic
PEX7
(A218V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+3 more
GPathogenic/Likely pathogenic
PEX7
(H285R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PEX7
(L292*)
Single nucleotide variant
(nonsense)
PEX7-Related Disorders
+5 more
GPathogenic
PEX7
Single nucleotide variant
(splice donor variant)
PEX7-Related Disorders
+4 more
GPathogenic
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