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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
(V1094fs +34 more)
Deletion
(frameshift variant +1 more)
Tuberous sclerosis 2
GPathogenic
TSC2
(F1688fs +10 more)
Insertion
(frameshift variant)
Tuberous sclerosis 2
GLikely pathogenic
TSC1
Single nucleotide variant
(splice donor variant +1 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC2
Microsatellite
(splice donor variant)
not provided
GPathogenic
TSC2
(S1718fs +10 more)
Deletion
(frameshift variant)
Tuberous sclerosis 2
GPathogenic
TSC2
(E1641fs +10 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TSC2
(Q1670fs +9 more)
Deletion
(frameshift variant)
Tuberous sclerosis 2
GPathogenic
TSC1
(R841fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis 1
GPathogenic
TSC1
Microsatellite
Malignant tumor of urinary bladder
+1 more
Gnot provided
TSC2
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 2
GPathogenic
TSC2
(I1553fs +10 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC2
(P1784fs +10 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC2
(T1689fs +10 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC2
(W1740* +10 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TSC1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSC1
(Y125fs +2 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
TSC1
(W103*)
Single nucleotide variant
(nonsense +2 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
TSC1
(S91*)
Single nucleotide variant
(nonsense +2 more)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(N840fs +3 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
TSC1
(Y884fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(S836* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(N804fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(R786* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TSC1
(A726E +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(N595fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TSC1
(Y583fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(Q650fs +3 more)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
TSC1
(Q406fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TSC1
(R509* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+5 more
GBenign
TSC1
Single nucleotide variant
(intron variant)
not provided
GBenign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
+4 more
GConflicting classifications of pathogenicity
TSC1
(H371fs +2 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Single nucleotide variant
(intron variant +1 more)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TSC1
(S334* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
GPathogenic
TSC1
(M322T +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
TSC1
(G1035S +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TSC1
(H732Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(T514fs +3 more)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
TSC1
(K509fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
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