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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
(E37* +1 more)
Single nucleotide variant
(nonsense +2 more)
Tuberous sclerosis 2
GPathogenic
TSC2
(T110fs +3 more)
Microsatellite
(frameshift variant +1 more)
Tuberous sclerosis 2
GPathogenic
TSC2
(F114S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 2
GPathogenic
TSC2
Single nucleotide variant
(splice donor variant)
Tuberous sclerosis 2
GPathogenic/Likely pathogenic
TSC2
Deletion
(inframe_deletion +1 more)
Tuberous sclerosis 2
GUncertain significance
TSC2
(P462L +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
GUncertain significance
TSC2
(A141E +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
GUncertain significance
TSC2
(L497S +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+1 more
GUncertain significance
TSC2
(P816L +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+1 more
GConflicting classifications of pathogenicity
TSC2
(I820del +4 more)
Microsatellite
(inframe_deletion)
Tuberous sclerosis 2
+2 more
GConflicting classifications of pathogenicity
TSC2
(V841I +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GConflicting classifications of pathogenicity
TSC2
(L844P +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
GPathogenic/Likely pathogenic
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+1 more
GConflicting classifications of pathogenicity
TSC2
(Q883* +4 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 2
+1 more
GPathogenic/Likely pathogenic
TSC2
(E1044fs +6 more)
Duplication
(frameshift variant)
Tuberous sclerosis 1
+2 more
GPathogenic
TSC2
(A1297T +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
+6 more
GBenign/Likely benign
TSC2
(L1009fs +34 more)
Duplication
(frameshift variant +1 more)
Tuberous sclerosis 2
GPathogenic
TSC2
(Q1686* +9 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 2
+1 more
GPathogenic
TSC2
(D1690N +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
GConflicting classifications of pathogenicity
TSC2
(R1743W +10 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+5 more
GPathogenic
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