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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 1
GPathogenic/Likely pathogenic
TSC1
(Q301* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
GPathogenic
TSC1
(V168fs +2 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(V178I +2 more)
Single nucleotide variant
(missense variant)
TSC1-related condition
+4 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+5 more
GBenign/Likely benign
TSC1
(N840fs +3 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+5 more
GBenign/Likely benign
TSC1
(Q833* +3 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
TSC1
(E809Q +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GBenign/Likely benign
TSC1
(R786* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TSC1
(Q766fs +3 more)
Deletion
(frameshift variant)
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
(T541fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(S578fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(Q573* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(R509* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
(S444* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(H351fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TSC1
(M322T +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
TSC1
(H732Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(K509fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
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