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Items: 1 to 100 of 414

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105372173, LOC105372179
+1646 more
Copy number gain
See cases
GPathogenic
LOC105372069, LOC105372071
+1643 more
Copy number gain
See cases
GPathogenic
LOC121852961, LOC121852962
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062369, LOC130062370
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062321, LOC130062322
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062687, LOC130062688
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
CDH7, CELF4
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062768, LOC130062769
+1642 more
Copy number gain
See cases
GPathogenic
LOC130062386, LOC130062387
+378 more
Copy number gain
See cases
GPathogenic
LINC01900, LINC01908
+282 more
Copy number gain
See cases
GPathogenic
LOC130062608, LOC130062609
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062514, LOC130062515
+1089 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
ASXL3, B4GALT6
+167 more
Copy number loss
See cases
GPathogenic
B4GALT6, DSC1
+32 more
Copy number gain
See cases
GUncertain significance
B4GALT6, DSG1
+21 more
Copy number gain
See cases
GUncertain significance
TTR
Single nucleotide variant
Amyloidogenic transthyretin amyloidosis
+2 more
GBenign/Likely benign
TTR
Single nucleotide variant
Amyloidogenic transthyretin amyloidosis
+1 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
Amyloidogenic transthyretin amyloidosis
+2 more
GUncertain significance
TTR
Single nucleotide variant
not specified
GLikely benign
TTR
Single nucleotide variant
(5 prime UTR variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Duplication
(inframe_insertion)
Amyloidogenic transthyretin amyloidosis
+4 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
TTR
(H4del)
Deletion
(inframe_deletion)
Hyperthyroxinemia, dystransthyretinemic
+2 more
GUncertain significance
TTR
(H4L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TTR
(H4Q)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(R5C)
Single nucleotide variant
(missense variant)
Hyperthyroxinemia, dystransthyretinemic
+3 more
GUncertain significance
TTR
(R5G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
(R5H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+6 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
TTR
(L9F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
(A12S)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GUncertain significance
TTR
(A12V)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(A12D)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(G13R)
Single nucleotide variant
(missense variant)
Hyperthyroxinemia, dystransthyretinemic
+2 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
+3 more
GBenign/Likely benign
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(F16Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTR
(V17A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
(S18A)
Single nucleotide variant
(missense variant)
not provided
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
(G21A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TTR
(P22fs)
Deletion
(frameshift variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(P22L)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(T23M)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Deletion
(splice donor variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(splice donor variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
TTR-related condition
+1 more
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely 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)
not provided
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Carpal tunnel syndrome 1
+3 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
TTR
Single nucleotide variant
(intron variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+1 more
GLikely benign
TTR
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
GUncertain significance
TTR
(G24D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
(T25I)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GLikely benign
TTR
(G26S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
TTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
TTR
(S28F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
(K29*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TTR
(K29E)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(C30G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TTR
(C30R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TTR
(C30Y)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GLikely pathogenic
TTR
(P31S)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Duplication
(inframe_insertion)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(L32V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
TTR
(L32P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GPathogenic
TTR
(M33K)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(L37P)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(D38Y)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
TTR
(D38N)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
+1 more
GPathogenic
TTR
(D38G)
Single nucleotide variant
(missense variant)
Amyloidogenic transthyretin amyloidosis
GPathogenic
TTR
(D38E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
TTR
(R41fs)
Insertion
(frameshift variant)
Amyloidogenic transthyretin amyloidosis
GUncertain significance
TTR
(A39D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
TTR
Single nucleotide variant
(synonymous variant)
Amyloidogenic transthyretin amyloidosis
GLikely benign
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