U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 250

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTHL1, TSC2
(R92H)
Single nucleotide variant
(missense variant +1 more)
Lymphangiomyomatosis
+6 more
GUncertain significance
LOC130058210, TSC2
Single nucleotide variant
(splice donor variant)
Lymphangiomyomatosis
+3 more
GUncertain significance
LOC130058210, TSC2
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GUncertain significance
TSC2
(E13D +1 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 2
+2 more
GConflicting classifications of pathogenicity
TSC2
(S30C +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(T41S +1 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(A42G +1 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(L45R +1 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(L48V +1 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GConflicting classifications of pathogenicity
TSC2
(S60N +1 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 2
GUncertain significance
TSC2
(E51D +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC2
(L54F +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(I12M +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC2
(I64V +2 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(A19G +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(K72R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
(A77T +2 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(Q90* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
TSC2
(P91S +2 more)
Single nucleotide variant
(missense variant +1 more)
TSC2-related disorder
+3 more
GUncertain significance
TSC2
(R93Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC2
(R98Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
+5 more
GConflicting classifications of pathogenicity
TSC2
(V109M +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(F87L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(P142A +3 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC2
(T147A +3 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(E159V +3 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(W167R +3 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis syndrome
+3 more
GUncertain significance
TSC2
(W167C +3 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC2
(E144Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(I195M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TSC2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(5 prime UTR variant +1 more)
Tuberous sclerosis 2
GPathogenic
TSC2
(S211F +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC2
(E216K +4 more)
Single nucleotide variant
(missense variant)
Lymphangiomyomatosis
+4 more
GUncertain significance
TSC2
(I240V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC2
(V241L +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSC2
(T246A +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+5 more
GConflicting classifications of pathogenicity
TSC2
(N248S +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TSC2
(V200A +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GUncertain significance
TSC2
(K201E +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(R261G +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GUncertain significance
TSC2
(R246G +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(A152S +8 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(H307Q +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+6 more
GConflicting classifications of pathogenicity
TSC2
(L312F +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(V319M +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
(S335C +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(L353V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(L361V +4 more)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
+5 more
GConflicting classifications of pathogenicity
TSC2
(L372P +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC2
(P378R +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC2
(L357M +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+1 more
GConflicting classifications of pathogenicity
TSC2
(L394V +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(D396V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC2
(E199K +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
(G365W +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GUncertain significance
TSC2
(E405G +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GUncertain significance
TSC2
Single nucleotide variant
(splice donor variant)
Tuberous sclerosis 2
GPathogenic
TSC2
Single nucleotide variant
(splice acceptor variant +1 more)
Tuberous sclerosis 2
GPathogenic
TSC2
(P387Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSC2
(P436L +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GConflicting classifications of pathogenicity
TSC2
(D439E +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TSC2
(N444K +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC2
(F452L +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
(G459D +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(R462H +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSC2
(I426M +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(L473V +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(I275V +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GUncertain significance
TSC2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(S294Y +9 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(S494F +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(D499N +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+1 more
GUncertain significance
TSC2
(R505* +4 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
TSC2
(H471R +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(I493T +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GUncertain significance
TSC2
(V534G +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC2
(P542L +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
(A506P +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC2
(D359G +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(T125P +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(P579S +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(L592F +10 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(I610V +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC2
(D435E +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
TSC2
(V638L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(V608F +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+1 more
GUncertain significance
TSC2
(R653K +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(L663R +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(P669L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
TSC2
(P470A +4 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(R680L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC2
(R691G +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TSC2
(K498N +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+2 more
GUncertain significance
TSC2
(V505A +4 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+3 more
GUncertain significance
TSC2
(L708M +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC2
(L708P +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
TSC2
(E726A +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination