C3150803[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 945278	NM_005188.4(CBL):c.664A>C (p.Met222Leu)	CBL (M222L)	Single nucleotide variant (missense variant)	CBL-related disorder +3 more	GUncertain significance
Select item 689750	NM_005188.4(CBL):c.1096-2A>T	CBL	Single nucleotide variant (splice acceptor variant)	CBL-related disorder	GPathogenic
Select item 548022	NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	CBL (Y371S)	Single nucleotide variant (missense variant)	RASopathy +2 more	GPathogenic/Likely pathogenic
Select item 648752	NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)	CBL (C401F)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 177959	NM_005188.4(CBL):c.1228-2A>G	CBL	Single nucleotide variant (splice acceptor variant)	Noonan syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1029944	NM_005188.4(CBL):c.1681C>T (p.Gln561Ter)	CBL (Q561*)	Single nucleotide variant (nonsense)	CBL-related disorder	GUncertain significance
Select item 2582415	NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)	CBL (I885T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 13328	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11 (Y279C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome with multiple lentigines +12 more	GPathogenic/Likely pathogenic

ClinVar