U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from PubMed

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(L209fs +2 more)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
TSC1
Deletion
(splice donor variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
GLikely benign
TSC1
(R228* +2 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
Deletion
(nonsense)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TSC1
(G1108S +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
TSC1
(N716fs +3 more)
Deletion
(frameshift variant)
Lymphangiomyomatosis
+5 more
GPathogenic
TSC1
(R786* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TSC1
(Q743* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(K724fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(Q654* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
TSC1
(L651fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(E585fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TSC1
Deletion
(nonsense)
Tuberous sclerosis syndrome
Gnot provided
TSC1
(R519fs +2 more)
Deletion
(frameshift variant)
Tuberous sclerosis 1
+2 more
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(R509* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
(E358fs +3 more)
Duplication
(frameshift variant)
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
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
(K587R +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
TSC1
(K509fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination