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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPP1
(R339W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TPP1
(Q338E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TPP1
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
+5 more
GPathogenic
TPP1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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