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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX7
(E23K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX7
(P29L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+4 more
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
PEX7-related condition
+2 more
GConflicting classifications of pathogenicity
PEX7
(I50M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX7
(R59S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX7
(F61L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX7
Single nucleotide variant
(intron variant)
PEX7-related condition
+3 more
GConflicting classifications of pathogenicity
PEX7
(D68V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX7
(F71fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PEX7
(V106L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
+2 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
+3 more
GConflicting classifications of pathogenicity
PEX7
(Q126P)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
PEX7
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX7
(A172P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
+1 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PEX7
(S222N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX7
(R232Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX7
Duplication
(intron variant)
Connective tissue disorder
+2 more
GBenign
PEX7
Deletion
(intron variant)
not specified
+2 more
GBenign
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
+2 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 9B
+1 more
GConflicting classifications of pathogenicity
PEX7
(L292*)
Single nucleotide variant
(nonsense)
PEX7-related condition
+5 more
GPathogenic
PEX7
(F294L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PEX7
(L296F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX7
Single nucleotide variant
(splice donor variant)
PEX7-Related Disorders
+4 more
GPathogenic
PEX7
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PEX7
(Y314C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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