C1860707[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 468038	NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)	TSC2 (K125R +3 more)	Single nucleotide variant (missense variant +1 more)	Tuberous sclerosis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 237983	NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)	TSC2 (I723V +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1331726	NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val)	TSC2 (A1007V +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 135380	NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)	TSC2 (T1181M +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 50020	NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser)	TSC2 (P1265S +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 992916	NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val)	TSC2 (L1103V +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GConflicting classifications of pathogenicity
Select item 238064	NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)	TSC2 (Y1608N +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +1 more	GUncertain significance

ClinVar