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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(D459fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(Y297* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
GPathogenic
TSC1
(E258* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(L250* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(R128fs +2 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(R228* +2 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
(V168fs +2 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(D74* +2 more)
Duplication
(nonsense)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(L113fs)
Microsatellite
(frameshift variant +2 more)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(Q898* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(N840fs +3 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
TSC1
(Q722fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(N716fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Microsatellite
(nonsense)
Tuberous sclerosis 1
GPathogenic
TSC1
(E788* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
GPathogenic
TSC1
(R786* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TSC1
(K653fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(Q765* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TSC1
(Y761* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(A605fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Deletion
(nonsense)
Tuberous sclerosis 1
+2 more
GPathogenic
TSC1
(R692* +3 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
TSC1
(G680E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC1
(K613fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+5 more
GBenign
TSC1
(S444* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
Gnot provided
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
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