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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(H732Y +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
(K587R +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+4 more
GBenign
TSC1
(S530T +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
TSC1
(S403L +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
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