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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+3 more
GBenign/Likely benign
TSC2
(C217fs +4 more)
Deletion
(frameshift variant)
Tuberous sclerosis 2
GPathogenic
TSC2
(A357V +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+4 more
GConflicting classifications of pathogenicity
TSC2
(G440S +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
TSC2
(R622W +4 more)
Single nucleotide variant
(missense variant)
TSC2-related condition
+3 more
GPathogenic/Likely pathogenic
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GConflicting classifications of pathogenicity
TSC2
(R905W +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+5 more
GPathogenic
TSC2
(R905Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
TSC2
(R1032* +6 more)
Single nucleotide variant
(nonsense)
Isolated focal cortical dysplasia type II
+5 more
GPathogenic
TSC2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
TSC2
(R1200W +6 more)
Single nucleotide variant
(missense variant)
TSC2-related condition
+6 more
GPathogenic
TSC2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
TSC2
(A1257V +6 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+6 more
GBenign/Likely benign
TSC2
Indel
(inframe_indel +1 more)
TSC2-related condition
+5 more
GConflicting classifications of pathogenicity
TSC2
(A1297T +9 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
GBenign/Likely benign
TSC2
(E1344K +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GConflicting classifications of pathogenicity
TSC2
(S1365L +9 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
(G1399R +9 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+4 more
GBenign/Likely benign
TSC2
(P1441S +9 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
(Q1503P +9 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+4 more
GPathogenic/Likely pathogenic
TSC2
Single nucleotide variant
(splice donor variant)
Tuberous sclerosis 2
GLikely pathogenic
TSC2
(Q1422fs +9 more)
Microsatellite
(frameshift variant)
Tuberous sclerosis 2
GPathogenic
TSC2
(R1713H +9 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
TSC2
(F1582fs +35 more)
Deletion
(frameshift variant +1 more)
Tuberous sclerosis 2
GConflicting classifications of pathogenicity
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