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Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
TSC2
(A84V +2 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC2
(P91L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
TSC2
(E92V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
TSC2
(R93Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(V120L +2 more)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 2
GUncertain significance
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
+4 more
GBenign
TSC2
(I195V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
TSC2
(V225M +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(P237L +4 more)
Single nucleotide variant
(missense variant)
TSC2-related disorder
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
TSC2
(R245H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(M286V +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+6 more
GBenign/Likely benign
TSC2
(R367Q +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+4 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+4 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC2
(E420* +4 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
+2 more
GPathogenic
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
TSC2
(G440S +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+5 more
GConflicting classifications of pathogenicity
TSC2
(A460T +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
TSC2
(I463V +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GBenign/Likely benign
TSC2
(L512V +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 2
+6 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
TSC2
(A583T +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TSC2
(P605L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 2
+6 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC2
(A678T +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+5 more
GBenign/Likely benign
TSC2
(R691C +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
TSC2
(R718P +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
TSC2-related disorder
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
TSC2
(L826M +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
+3 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 2
+2 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 2
+1 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+1 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 2
+2 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Lymphangiomyomatosis
+6 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(R988P)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 2
+2 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis syndrome
+1 more
GLikely pathogenic
TSC2
(A1141V +6 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
(A1084S +6 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+3 more
GBenign/Likely benign
TSC2
(E1087D +6 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 2
+5 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
+3 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+1 more
GLikely benign
TSC2
(A1297T +9 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+6 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
TSC2
(R1329H +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+5 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign/Likely benign
TSC2
(S1336L +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+4 more
GConflicting classifications of pathogenicity
TSC2
(R1369W +9 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
TSC2
(A1429S +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+6 more
GBenign/Likely benign
TSC2
(P1444A +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+1 more
GConflicting classifications of pathogenicity
TSC2
(F1510del +9 more)
Microsatellite
(inframe_deletion)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
TSC2
Microsatellite
(intron variant)
Lymphangiomyomatosis
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+2 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC2
(V1630M +9 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+4 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+4 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
(E1679K +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+5 more
GConflicting classifications of pathogenicity
TSC2
Microsatellite
Tuberous sclerosis 2
+1 more
GBenign
TSC2
Microsatellite
(splice donor variant)
Tuberous sclerosis 2
+3 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC2
(V1703A +9 more)
Single nucleotide variant
(missense variant)
Lymphangiomyomatosis
+4 more
GUncertain significance
TSC2
(R1706H +9 more)
Single nucleotide variant
(missense variant)
Ovarian cancer
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis syndrome
+2 more
GLikely benign
TSC2
(R1713H +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+5 more
GPathogenic/Likely pathogenic
TSC2
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+5 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
+3 more
GBenign
TSC2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
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