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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX19
(V276A)
Single nucleotide variant
(missense variant +2 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+2 more
GBenign/Likely benign
PEX19
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 12A (Zellweger)
GBenign/Likely benign
PEX19
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GBenign/Likely benign
PEX19
(P39S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
PEX19
(A14P)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
+1 more
GUncertain significance
PEX19
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
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