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Links from MedGen

Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX7
(A100fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(G41fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(L213fs)
Duplication
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(L185* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(G69fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(E117* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(L228fs)
Indel
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(G16fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(K108fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(K170* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Single nucleotide variant
(splice acceptor variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(Q126*)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GPathogenic/Likely pathogenic
PEX7
(A100fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GPathogenic
PEX7
(R13Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
+2 more
GBenign/Likely benign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
+3 more
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
+2 more
GUncertain significance
PEX7
(H254Y)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
(T150I)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 9B
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 9B
+1 more
GLikely benign
PEX7
(H166Y)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+1 more
GUncertain significance
PEX7
(T266I)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(5 prime UTR variant)
Peroxisome biogenesis disorder 9B
+1 more
GUncertain significance
PEX7
(V185A)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
+2 more
GUncertain significance
PEX7
Single nucleotide variant
(5 prime UTR variant)
Peroxisome biogenesis disorder 9B
+2 more
GBenign/Likely benign
PEX7
Single nucleotide variant
(5 prime UTR variant)
Peroxisome biogenesis disorder 9B
+1 more
GUncertain significance
PEX7
(A43V)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
PEX7
Duplication
(intron variant)
Rhizomelic chondrodysplasia punctata type 1
+2 more
GBenign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GUncertain significance
PEX7
Insertion
(inframe_insertion)
not specified
+2 more
GConflicting classifications of pathogenicity
PEX7
(R246*)
Duplication
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(Q198*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 9B
+1 more
GPathogenic/Likely pathogenic
PEX7
(L180fs)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 9B
+1 more
GLikely pathogenic
PEX7
(N78fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 9B
+1 more
GPathogenic/Likely pathogenic
PEX7
(H39P)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+1 more
GLikely pathogenic
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
+2 more
GBenign
PEX7
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
GLikely benign
PEX7
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 1
+2 more
GBenign
PEX7
Single nucleotide variant
(genic upstream transcript variant)
Rhizomelic chondrodysplasia punctata type 1
+2 more
GBenign
PEX7
Single nucleotide variant
(splice donor variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GPathogenic
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
+2 more
GConflicting classifications of pathogenicity
PEX7
(S306fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
Duplication
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
Deletion
(intron variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely benign
PEX7
Single nucleotide variant
(stop lost)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
Duplication
(inframe_insertion)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
(G41V)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
Single nucleotide variant
(splice acceptor variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(Q301*)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
(S273fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(V144fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 9B
+1 more
GPathogenic/Likely pathogenic
PEX7
(E125*)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Single nucleotide variant
(splice acceptor variant)
Phytanic acid storage disease
+2 more
GUncertain significance
PEX7
Single nucleotide variant
(splice acceptor variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Deletion
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(I245F)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+1 more
GUncertain significance
PEX7
(S164P)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GUncertain significance
PEX7
Deletion
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
(S262L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+1 more
GUncertain significance
PEX7
(W75C)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
(W270fs)
Duplication
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Single nucleotide variant
(stop lost)
Rhizomelic chondrodysplasia punctata type 1
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PEX7
(R232Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX7
(P29L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+4 more
GUncertain significance
PEX7
Deletion
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GPathogenic
PEX7
(L214P)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GConflicting classifications of pathogenicity
PEX7
(W119*)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GPathogenic
PEX7
(Q112*)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 9B
+1 more
GPathogenic/Likely pathogenic
PEX7
Single nucleotide variant
(splice acceptor variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Deletion
(splice donor variant)
Peroxisome biogenesis disorder 9B
+1 more
GLikely pathogenic
PEX7
Single nucleotide variant
(splice donor variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GPathogenic/Likely pathogenic
PEX7
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 9B
+1 more
GLikely pathogenic
PEX7
(M11fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(Y20*)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 9B
+1 more
GLikely pathogenic
PEX7
(C170fs)
Deletion
(frameshift variant)
Peroxisome biogenesis disorder 9B
+1 more
GPathogenic/Likely pathogenic
PEX7
(A259fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(Y27*)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
(Q93*)
Single nucleotide variant
(nonsense)
Connective tissue disorder
+3 more
GPathogenic/Likely pathogenic
PEX7
(G7fs)
Microsatellite
(frameshift variant)
Peroxisome biogenesis disorder 9B
+1 more
GPathogenic/Likely pathogenic
PEX7
(W183fs)
Duplication
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Single nucleotide variant
(splice donor variant)
Rhizomelic chondrodysplasia punctata type 1
GLikely pathogenic
PEX7
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
+2 more
GBenign
PEX7
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GConflicting classifications of pathogenicity
PEX7
(I321V)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
+2 more
GUncertain significance
PEX7
(Y314C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PEX7
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 1
+1 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
+1 more
GConflicting classifications of pathogenicity
PEX7
(R246K)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+2 more
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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