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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTR
(R5G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
(G26S)
Single nucleotide variant
(missense variant)
Carpal tunnel syndrome 1
+6 more
GBenign/Likely benign
TTR
(D94H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+5 more
GBenign
TTR
Single nucleotide variant
(synonymous variant)
TTR-related condition
+6 more
GConflicting classifications of pathogenicity
TTR
(V142I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+13 more
GPathogenic
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