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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPT1
(T531R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PNPT1
(V461A)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PNPT1
(I418L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PNPT1
(V411I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PNPT1
(T78A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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