ClinVar for MedGen (Select 6713) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373972	NM_000548.5(TSC2):c.5160+4A>C	TSC2	Single nucleotide variant (intron variant)	Lymphangiomyomatosis	GPathogenic
Select item 48943	NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	TSC1 (R786* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	FGFR3-related chondrodysplasia +32 more	GPathogenic

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