"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180808	NM_005188.4(CBL):c.107ACC[6] (p.His42del)	CBL, LOC130006895 (H42del)	Microsatellite (inframe_deletion)	RASopathy +2 more	GBenign/Likely benign
Select item 45209	NM_005188.4(CBL):c.513T>C (p.Ser171=)	CBL	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +6 more	GBenign
Select item 45211	NM_005188.4(CBL):c.869+4A>G	CBL	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 40408	NM_005188.4(CBL):c.1227+20dup	CBL	Duplication (intron variant)	RASopathy +2 more	GBenign/Likely benign
Select item 45201	NM_005188.4(CBL):c.1485G>A (p.Pro495=)	CBL	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 1003891	NM_005188.4(CBL):c.1649G>A (p.Arg550Gln)	CBL (R550Q)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 45203	NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)	CBL (L620F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign
Select item 136665	NM_005188.4(CBL):c.2190G>C (p.Thr730=)	CBL	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 1210057	NM_005188.4(CBL):c.2262T>G (p.Asn754Lys)	CBL (N754K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 45208	NM_005188.4(CBL):c.2592C>T (p.Leu864=)	CBL	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign