"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691832	NM_005188.4(CBL):c.805A>G (p.Met269Val)	CBL (M269V)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 13811	NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	CBL (Y371H)	Single nucleotide variant (missense variant)	CBL-related disorder +4 more	GPathogenic
Select item 1708304	NM_005188.4(CBL):c.1190G>A (p.Gly397Glu)	CBL (G397E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1332902	NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)	CBL (G415S)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
Select item 1516357	NM_005188.4(CBL):c.1357C>T (p.Pro453Ser)	CBL (P453S)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1330151	NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)	CBL (L467P)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 1059135	NM_005188.4(CBL):c.2053A>G (p.Lys685Glu)	CBL (K685E)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 842157	NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)	CBL (S799del)	Microsatellite (inframe_deletion)	See cases +4 more	GUncertain significance

ClinVar