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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
(P378R +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC2
(H185fs +8 more)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
TSC2
Insertion
(inframe_insertion)
not provided
GUncertain significance
TSC2
(H201fs +8 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
TSC2
(E498K +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TSC2
(A552T +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(Y128* +10 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
TSC2
(L663F +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
(R680L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
(V692I +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GConflicting classifications of pathogenicity
TSC2
(V705M +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(S758C +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GConflicting classifications of pathogenicity
TSC2
(L724fs +4 more)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TSC2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TSC2
(L647fs +4 more)
Deletion
(frameshift variant)
Tuberous sclerosis 2
+1 more
GPathogenic
TSC2
(Q864* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TSC2
Deletion
(intron variant)
not provided
GUncertain significance
TSC2
(C838fs +4 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TSC2
(R905W +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
TSC2
(K967N)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TSC2
(P950L +6 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
(V1073M +6 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GConflicting classifications of pathogenicity
TSC2
(R1030fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TSC2
(R1200W +6 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
TSC2
Single nucleotide variant
(splice donor variant)
Tuberous sclerosis 2
+1 more
GPathogenic/Likely pathogenic
TSC2
Single nucleotide variant
(splice donor variant)
Tuberous sclerosis 2
+1 more
GPathogenic
TSC2
(A1004fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TSC2
(A1273V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 2
+1 more
GPathogenic
TSC2
(S1336L +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(S1379L +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(S1411N +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+4 more
GUncertain significance
TSC2
(N1271fs +9 more)
Deletion
(frameshift variant)
Tuberous sclerosis 2
+2 more
GPathogenic
TSC2
(Q1588* +9 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 2
+1 more
GPathogenic
TSC2
(G1595R +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
TSC2
(G1360fs +9 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TSC2
(S1403P +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSC2
Microsatellite
(splice donor variant)
not provided
GUncertain significance
TSC2
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic/Likely pathogenic
TSC2
(R1743Q +10 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GPathogenic/Likely pathogenic
TSC2
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic
TSC2
(F1806L +10 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSC2
Deletion
not provided
GPathogenic
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