"Ambry Genetics"[submitter] AND "CBLL1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2588274	NM_024814.4(CBLL1):c.113C>T (p.Ala38Val)	CBLL1 (A38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314711	NM_024814.4(CBLL1):c.409C>T (p.His137Tyr)	CBLL1 (H137Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523537	NM_024814.4(CBLL1):c.782G>A (p.Arg261His)	CBLL1 (R260H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255559	NM_024814.4(CBLL1):c.803C>G (p.Ser268Cys)	CBLL1 (S268C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598907	NM_024814.4(CBLL1):c.1223C>G (p.Pro408Arg)	CBLL1 (P408R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360432	NM_024814.4(CBLL1):c.1223C>T (p.Pro408Leu)	CBLL1 (P407L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255742	NM_024814.4(CBLL1):c.1460G>A (p.Arg487Lys)	CBLL1 (R486K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255743	NM_024814.4(CBLL1):c.1461A>T (p.Arg487Ser)	CBLL1 (R486S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance