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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(G1006V +3 more)
Indel
(missense variant)
not specified
Gnot provided
TSC1
(G1057S +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(T1047I +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GConflicting classifications of pathogenicity
TSC1
(G1035S +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+4 more
GConflicting classifications of pathogenicity
TSC1
(E889I +3 more)
Indel
(missense variant)
Tuberous sclerosis 1
+1 more
GLikely benign
TSC1
(K741Q +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
(H732Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(P641S +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(K587R +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
TSC1
(R509Q +3 more)
Single nucleotide variant
(missense variant)
Lymphangiomyomatosis
+5 more
GBenign/Likely benign
TSC1
(S457R +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(P448S +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+4 more
GBenign/Likely benign
TSC1
(A428L +3 more)
Indel
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
not provided
GBenign
TSC1
(S403L +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+4 more
GBenign/Likely benign
TSC1
(T360N +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+6 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(intron variant)
not specified
Gnot provided
TSC1
(S334L +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
TSC1
(M322T +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
TSC1
(F285V +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
TSC1
(V178I +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC1
(L116V)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis syndrome
+5 more
GConflicting classifications of pathogenicity
TSC1
(A84T)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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