"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "TSC1"[gene - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585285	NM_000368.5(TSC1):c.2405dup (p.Asp802fs)	TSC1 (D750fs +10 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 1	GLikely pathogenic
Select item 932150	NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)	TSC1 (K545* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1	GLikely pathogenic
Select item 1878653	NM_000368.5(TSC1):c.1309dup (p.His437fs)	TSC1 (H316fs +3 more)	Duplication (frameshift variant)	Tuberous sclerosis 1	GLikely pathogenic

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