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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(A586V +15 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
(S632fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis 1
GPathogenic
TSC1
(Q627fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis 1
GLikely pathogenic
TSC1
(R692* +3 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis syndrome
+5 more
GPathogenic
TSC1
(R689C +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(Q653fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis 1
GPathogenic
TSC1
(E357fs +3 more)
Deletion
(frameshift variant)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(S161A +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+1 more
GUncertain significance
TSC1
(R245* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
TSC1
(F137V +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
GLikely pathogenic
TSC2
(Q1395* +9 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 2
+2 more
GPathogenic
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