"New York Genome Center"[submitter] AND "CBL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665021	NM_005188.4(CBL):c.195+6902A>G	CBL	Single nucleotide variant (intron variant)	CBL-related disorder	GUncertain significance
Select item 1184332	NM_005188.4(CBL):c.444-6862G>A	CBL	Single nucleotide variant (intron variant)	CBL-related disorder	GUncertain significance
Select item 1696465	NM_005188.4(CBL):c.1192C>T (p.His398Tyr)	CBL (H398Y)	Single nucleotide variant (missense variant)	Epilepsy, early-onset	GUncertain significance
Select item 1507887	NM_005188.4(CBL):c.1744C>A (p.Pro582Thr)	CBL (P582T)	Single nucleotide variant (missense variant)	CBL-related disorder +1 more	GUncertain significance
Select item 280204	NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)	CBL (S648R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 983355	NM_005188.4(CBL):c.2086G>C (p.Glu696Gln)	CBL (E696Q)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance

ClinVar