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Links from MedGen

Items: 1 to 100 of 325

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTR
(P122L)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(K90E)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(H51Y)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Deletion
(splice donor variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(L102P)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Deletion
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GLikely benign
TTR
(P145S)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(T116R)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(R41fs)
Insertion
(frameshift variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(T143A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(E109G)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(I104N)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
TTR
(H51D)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(M33K)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(V91fs)
Duplication
(frameshift variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(D38Y)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
DSG2, TTR
Duplication
Amyloidogenic transthyretin amyloidosis
+1 more
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
TTR
(K90Q)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(T79A)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(S70G)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(V40A)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(T126N)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(K55N)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
TTR
(V50L)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(P22fs)
Deletion
(frameshift variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(P145H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
(A12V)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(A117D)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(K55E)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(F84Y)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(E112G)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(Y136*)
Single nucleotide variant
(nonsense)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(E62K)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GUncertain significance
TTR
(A128V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTR
(L78V)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(E71A)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GUncertain significance
TTR
(G24D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GLikely benign
TTR
(R123G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
(G121R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
(L37P)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(P106A)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(E74L)
Indel
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GPathogenic/Likely pathogenic
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
+3 more
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(H110D)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GConflicting classifications of pathogenicity
TTR
(E74A)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(K29E)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(W99S)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(P31S)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(C30Y)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(P22L)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GUncertain significance
TTR
(H4Q)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(D58V)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
TTR
(T69I)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
TTR
(I104T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
TTR
Single nucleotide variant
(splice acceptor variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(G13R)
Single nucleotide variant
(missense variant)
Hyperthyroxinemia, dystransthyretinemic
+2 more
GUncertain significance
TTR
(H51N)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+2 more
GUncertain significance
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