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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPO
(G13W)
Single nucleotide variant
(missense variant)
Pyridoxal phosphate-responsive seizures
+1 more
GUncertain significance
PNPO
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PNPO
Deletion
(inframe_deletion)
not provided
GUncertain significance
PNPO
(G103R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PNPO
(R116Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
PNPO
(R141H)
Single nucleotide variant
(missense variant)
Pyridoxal phosphate-responsive seizures
+1 more
GUncertain significance
PNPO
(V210F)
Single nucleotide variant
(missense variant)
Pyridoxal phosphate-responsive seizures
+1 more
GUncertain significance
PNPO
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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