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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 1
+5 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TSC1
(E1010D +3 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+5 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(splice donor variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(Q833* +3 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
TSC1
(Q743* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(Q694* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(R692* +3 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
TSC1
Microsatellite
(intron variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(I532fs +3 more)
Deletion
(frameshift variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(E585fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TSC1
Indel
(inframe_indel)
Malignant tumor of urinary bladder
Gnot provided
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+5 more
GBenign
TSC1
(L556fs +3 more)
Deletion
(frameshift variant)
Malignant tumor of urinary bladder
+1 more
Gnot provided
TSC1
(Q527* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TSC1
(R509* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
(G452R +3 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(T417I +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
TSC1
(W347* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TSC1
(M322T +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
TSC1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TSC1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TSC1
(V220F +2 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(R69fs +2 more)
Deletion
(frameshift variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(Y176fs +2 more)
Duplication
(frameshift variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
TSC1
(F158C +2 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(K82T)
Single nucleotide variant
(missense variant +2 more)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(H68R)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
Gnot provided
TSC1
(Q55*)
Single nucleotide variant
(nonsense +1 more)
Tuberous sclerosis 1
GPathogenic
TSC1
(V46fs)
Duplication
(frameshift variant +1 more)
Malignant tumor of urinary bladder
Gnot provided
TSC1
Microsatellite
Malignant tumor of urinary bladder
+1 more
Gnot provided
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