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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTR
(R5H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+6 more
GConflicting classifications of pathogenicity
TTR
(G21A)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+2 more
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
TTR
(V50M)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+7 more
GPathogenic
TTR
(F64L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
TTR
(L78fs)
Deletion
(frameshift variant)
Cardiomyopathy
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TTR
(A101V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTR
(H110N)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTR
(D119A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TTR
(S120P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign
TTR
(R123C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TTR
(R123H)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+8 more
GUncertain significance
TTR
(R124C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GUncertain significance
TTR
(R124H)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
+6 more
GConflicting classifications of pathogenicity
TTR
(A129S)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+1 more
GConflicting classifications of pathogenicity
TTR
(A129T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
TTR
(T139M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TTR
(V142I)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+12 more
GPathogenic
TTR
(N144S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TTR
Deletion
(3 prime UTR variant)
not specified
+4 more
GBenign
TTR
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
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