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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTR
(C30R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TTR
(V50M)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+7 more
GPathogenic
TTR
(R123H)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+8 more
GUncertain significance
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