ClinVar for MedGen (Select 853938) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1077128	NM_000548.5(TSC2):c.481+1G>A	TSC2	Single nucleotide variant (splice donor variant +1 more)	Cortical tubers +2 more	GPathogenic/Likely pathogenic
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	not provided +12 more	GPathogenic/Likely pathogenic