"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48897	NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs)	TSC1 (Q650fs +3 more)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 48796	NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	TSC1 (R509* +3 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis 1 +4 more	GPathogenic
Select item 840265	NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter)	TSC1 (Y150* +2 more)	Single nucleotide variant (nonsense)	See cases +2 more	GPathogenic

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