"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 49447	NM_000548.5(TSC2):c.826_827del (p.Met276fs)	TSC2 (M227fs +4 more)	Deletion (frameshift variant)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 12400	NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)	TSC2 (E366* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 2 +1 more	GPathogenic
Select item 49240	NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)	TSC2 (R1032* +6 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis syndrome +5 more	GPathogenic

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