"3billion"[submitter] AND "RIT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3005177	NM_006912.6(RIT1):c.578T>C (p.Met193Thr)	RIT1 (M210T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GConflicting classifications of pathogenicity
Select item 60509	NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	RIT1 (G95A +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +5 more	GPathogenic
Select item 183409	NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	RIT1 (T83P +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 183408	NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	RIT1 (F82V +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 183405	NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	RIT1 (E81G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 561621	NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)	RIT1 (A77S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 60506	NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	RIT1 (A57G +2 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic
Select item 1333286	NM_006912.6(RIT1):c.116T>C (p.Met39Thr)	RIT1 (M39T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance

ClinVar