"ITMI"[submitter] AND "CBLB"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133827	NM_170662.5(CBLB):c.2881G>A (p.Glu961Lys)	CBLB (E961K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133826	NM_170662.5(CBLB):c.2702C>G (p.Ala901Gly)	CBLB (A901G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133825	NM_170662.5(CBLB):c.2647A>G (p.Asn883Asp)	CBLB (N883D +12 more)	Single nucleotide variant (missense variant +1 more)	CBLB-related disorder	GBenign
Select item 133821	NM_170662.5(CBLB):c.1934A>G (p.His645Arg)	CBLB (H645R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133824	NM_170662.5(CBLB):c.1913T>C (p.Leu638Pro)	CBLB (L638P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133823	NM_170662.5(CBLB):c.1865G>C (p.Ser622Thr)	CBLB (S622T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 133820	NM_170662.5(CBLB):c.1860_1862dup (p.Ala621dup)	CBLB	Duplication (inframe_insertion +1 more)	not specified	Gnot provided
Select item 133822	NM_170662.5(CBLB):c.1670C>T (p.Pro557Leu)	CBLB (P557L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133818	NM_170662.5(CBLB):c.1396A>G (p.Asn466Asp)	CBLB, LOC126806757 (N466D +6 more)	Single nucleotide variant (missense variant +1 more)	CBLB-related disorder	GBenign
Select item 133817	NM_170662.5(CBLB):c.1378A>G (p.Met460Val)	CBLB, LOC126806757 (M460V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133819	NM_170662.5(CBLB):c.1304G>A (p.Cys435Tyr)	LOC126806757, CBLB (C435Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133830	NM_170662.5(CBLB):c.1193C>T (p.Thr398Met)	CBLB (T398M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133828	NM_170662.5(CBLB):c.821A>C (p.Gln274Pro)	CBLB (Q274P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 133829	NM_170662.5(CBLB):c.743G>A (p.Arg248Gln)	CBLB (R248Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 135508	NM_170662.5(CBLB):c.-14-1G>T	CBLB	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 135509	NM_001321790.2(CBLB):c.20C>G (p.Pro7Arg)	CBLB (P7R)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided