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Items: 1 to 100 of 415

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+378 more
Copy number gain
See cases
GPathogenic
ABHD3, ANKRD29
+282 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+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
Familial amyloid neuropathy
+2 more
GBenign/Likely benign
TTR
Single nucleotide variant
Familial amyloid neuropathy
+1 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
Familial amyloid neuropathy
+2 more
GUncertain significance
TTR
Single nucleotide variant
not specified
GLikely benign
TTR
Single nucleotide variant
(5 prime UTR variant)
Hyperthyroxinemia, dystransthyretinemic
+4 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+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)
Familial amyloid neuropathy
GLikely benign
TTR
Duplication
(inframe_insertion)
not provided
+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)
Familial amyloid neuropathy
+2 more
GUncertain significance
TTR
(H4Q)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
(R5C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TTR
(R5G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
(R5H)
Single nucleotide variant
(missense variant)
TTR-related disorder
+6 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
+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)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
(A12V)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
(A12D)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
(G13R)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+2 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GLikely benign
TTR
(F16Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTR
(V17A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTR
(S18A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GLikely benign
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GLikely benign
TTR
(G21A)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+2 more
GUncertain significance
TTR
(P22fs)
Deletion
(frameshift variant)
Familial amyloid neuropathy
GUncertain significance
TTR
(P22L)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+1 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GLikely benign
TTR
(T23M)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+5 more
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GUncertain significance
TTR
Deletion
(splice donor variant)
Familial amyloid neuropathy
GUncertain significance
TTR
Single nucleotide variant
(splice donor variant)
Familial amyloid neuropathy
GUncertain significance
TTR
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
TTR-related disorder
+1 more
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
+1 more
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
+1 more
GBenign/Likely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
GLikely benign
TTR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TTR
Deletion
(intron variant)
Familial amyloid neuropathy
GUncertain significance
TTR
Single nucleotide variant
(intron variant)
Hyperthyroxinemia, dystransthyretinemic
+3 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+4 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
+3 more
GConflicting classifications of pathogenicity
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
GLikely benign
TTR
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
+5 more
GBenign/Likely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
GLikely benign
TTR
Single nucleotide variant
(intron variant)
Familial amyloid neuropathy
+1 more
GLikely benign
TTR
Single nucleotide variant
(splice acceptor variant)
Cardiovascular phenotype
GUncertain significance
TTR
(G24D)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+1 more
GUncertain significance
TTR
(T25I)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+1 more
GLikely benign
TTR
(G26S)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+6 more
GBenign/Likely benign
TTR
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
TTR
(S28F)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+2 more
GUncertain significance
TTR
(K29*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TTR
(K29E)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
(C30G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTR
(C30R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TTR
(C30Y)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GLikely pathogenic
TTR
(P31S)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
Duplication
(inframe_insertion)
Familial amyloid neuropathy
GUncertain significance
TTR
(L32V)
Single nucleotide variant
(missense variant)
Amyloidosis
+2 more
GPathogenic
TTR
(L32P)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+1 more
GPathogenic
TTR
(M33K)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GLikely benign
TTR
(L37P)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GUncertain significance
TTR
(D38Y)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GPathogenic
TTR
(D38N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic
TTR
(D38G)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
GPathogenic
TTR
(D38E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic
TTR
Single nucleotide variant
(synonymous variant)
Familial amyloid neuropathy
GLikely benign
TTR
(R41fs)
Insertion
(frameshift variant)
Familial amyloid neuropathy
GUncertain significance
TTR
(A39D)
Single nucleotide variant
(missense variant)
Familial amyloid neuropathy
+1 more
GPathogenic/Likely pathogenic
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