"GeneReviews"[submitter] AND "TSC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64889	NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)	TSC2 (R622W +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +3 more	GPathogenic/Likely pathogenic
Select item 12403	NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	TSC2 (R905Q +4 more)	Single nucleotide variant (missense variant)	TSC2-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 50043	NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro)	TSC2 (S1036P +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 49770	NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)	TSC2 (R1200W +6 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis syndrome +5 more	GPathogenic
Select item 12401	NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)	TSC2 (Q1503P +9 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 49956	NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)	TSC2 (G1579S +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 49930	NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)	TSC2 (R1713H +9 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic

ClinVar