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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX19
(A140V)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
GUncertain significance
PEX19
(L94*)
Single nucleotide variant
(nonsense +1 more)
Zellweger spectrum disorders
+1 more
GLikely pathogenic
PEX19
(F71C)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 12A (Zellweger)
GUncertain significance
PEX19
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 12A (Zellweger)
GLikely pathogenic
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