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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(K1085E +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(G1036E +3 more)
Single nucleotide variant
(missense variant)
TSC1-related condition
+3 more
GConflicting classifications of pathogenicity
TSC1
(G1035S +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
(M1004V +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC1
(N762S +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
(L575I +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(G392R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSC1
(R316Q +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GConflicting classifications of pathogenicity
TSC1
(T314M +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+5 more
GConflicting classifications of pathogenicity
TSC1
(S270L +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TSC1
(R190C +2 more)
Single nucleotide variant
(missense variant)
TSC1-related condition
+4 more
GConflicting classifications of pathogenicity
TSC1
(V178I +2 more)
Single nucleotide variant
(missense variant)
TSC1-related condition
+4 more
GConflicting classifications of pathogenicity
TSC1
(L116V)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
TSC1
(G20D)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GBenign/Likely benign
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