C1860707[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1513132	NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)	TSC2 (A258D +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GConflicting classifications of pathogenicity
Select item 12404	NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)	TSC2 (R905W +4 more)	Single nucleotide variant (missense variant)	Lymphangiomyomatosis +5 more	GPathogenic
Select item 535975	NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln)	TSC2 (R1032Q +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 49301	NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)	TSC2 (Q1503* +9 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 49333	NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)	TSC2 (H1640Y +9 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GPathogenic
Select item 12393	NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)	TSC2 (P1675L +9 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar