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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PNPT1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PNPT1
(N590D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
PNPT1
(I554fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PNPT1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
PNPT1
(P140S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129933770, PNPT1
(S41T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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