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Links from MedGen

Items: 1 to 100 of 546

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Duplication
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Duplication
(intron variant)
Peroxisome biogenesis disorder 9B
GBenign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Deletion
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(G138fs +1 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
(T59fs +1 more)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Deletion
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(S251fs +1 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(S273* +1 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 9B
GLikely pathogenic
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Deletion
(intron variant)
Peroxisome biogenesis disorder 9B
GBenign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Duplication
(intron variant)
Peroxisome biogenesis disorder 9B
GBenign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(L228fs +1 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(L54P +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(V4fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Deletion
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(R24G +1 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
GUncertain significance
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
(Y20fs)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 9B
GLikely pathogenic
PEX7
(A8fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 9B
GPathogenic
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