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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTR
(R5H)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+6 more
GConflicting classifications of pathogenicity
TTR
(V50M)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+7 more
GPathogenic
TTR
(D94H)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+6 more
GConflicting classifications of pathogenicity
TTR
(E109K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
TTR
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+5 more
GBenign
TTR
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GBenign
TTR
(R123H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GUncertain significance
TTR
(R124H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TTR
(T139M)
Single nucleotide variant
(missense variant)
Hyperthyroxinemia, dystransthyretinemic
+6 more
GConflicting classifications of pathogenicity
TTR
(V142I)
Single nucleotide variant
(missense variant)
Amyloid Cardiomyopathy, Transthyretin-related
+12 more
GPathogenic
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