"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40400	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	not specified +7 more	GBenign/Likely benign
Select item 180818	NM_005188.4(CBL):c.125A>T (p.His42Leu)	CBL, LOC130006895 (H42L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45211	NM_005188.4(CBL):c.869+4A>G	CBL	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 13807	NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	CBL (Q367P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 240121	NM_005188.4(CBL):c.2036+9G>T	CBL	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 40419	NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)	CBL (A757T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 133813	NM_005188.4(CBL):c.2710G>A (p.Val904Ile)	CBL (V904I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign

ClinVar