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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX19
(G293A +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GUncertain significance
PEX19
(P289S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PEX19
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GUncertain significance
PEX19
(S286W)
Single nucleotide variant
(missense variant +2 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+2 more
GUncertain significance
PEX19
(S286L)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PEX19
(S286A)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
PEX19
(A282V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PEX19
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
PEX19
(E235M)
Indel
(missense variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GUncertain significance
PEX19
(V224I)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GUncertain significance
PEX19
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PEX19
Single nucleotide variant
(synonymous variant +1 more)
PEX19-related condition
+2 more
GConflicting classifications of pathogenicity
PEX19
(M175V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX19
(D166E)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
PEX19
(E164K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX19
(M91V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PEX19
(E88K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX19
(A85V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX19
(Q72R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX19
(P39A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX19
(P39S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
PEX19
Single nucleotide variant
(non-coding transcript variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX19
Insertion
(intron variant)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
PEX19
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GConflicting classifications of pathogenicity
PEX19
(E6K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
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