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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(P1143L +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+5 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+4 more
GBenign/Likely benign
TSC1
Microsatellite
(inframe_insertion)
Tuberous sclerosis 1
+3 more
GBenign/Likely benign
TSC1
(G1035S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(L642I +15 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+2 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 1
+6 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+5 more
GBenign/Likely benign
TSC1
(Q806* +15 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
+3 more
GPathogenic/Likely pathogenic
TSC1
(R908Q +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(T899S +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
TSC1
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
TSC1
Single nucleotide variant
(intron variant)
TSC1-related disorder
+3 more
GConflicting classifications of pathogenicity
TSC1
Duplication
(intron variant)
not provided
+5 more
GBenign/Likely benign
TSC1
Deletion
(intron variant)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 1
+2 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC1
(R690Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TSC1
(N762S +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC1
(H732Y +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
(R692Q +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+5 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 1
+4 more
GBenign/Likely benign
TSC1
(Q654E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC1
(P603L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TSC1
(K587R +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+5 more
GBenign
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 1
+2 more
GBenign/Likely benign
TSC1
(S487C +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TSC1
(D350fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis syndrome
+1 more
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+5 more
GBenign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
+3 more
GBenign/Likely benign
TSC1
(T417I +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis syndrome
+2 more
GBenign/Likely benign
TSC1
(T214I +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+2 more
GUncertain significance
TSC1
(M322T +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+5 more
GBenign
TSC1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
TSC1
(L116F)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC1
(A84T)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(L41I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(5 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
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