"Ambry Genetics"[submitter] AND "CBLB"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2469619	NM_170662.5(CBLB):c.2801C>G (p.Ala934Gly)	CBLB (A491G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305538	NM_170662.5(CBLB):c.2726G>A (p.Arg909Gln)	CBLB (R466Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344292	NM_170662.5(CBLB):c.2716C>G (p.Pro906Ala)	CBLB (P463A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550401	NM_170662.5(CBLB):c.2665T>A (p.Tyr889Asn)	CBLB (Y449N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332490	NM_170662.5(CBLB):c.2665T>C (p.Tyr889His)	CBLB (Y449H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137975	NM_170662.5(CBLB):c.2620A>G (p.Arg874Gly)	CBLB (R565G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137974	NM_170662.5(CBLB):c.2576T>C (p.Phe859Ser)	CBLB (F416S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263634	NM_170662.5(CBLB):c.2549A>G (p.Asp850Gly)	CBLB (D757G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137973	NM_170662.5(CBLB):c.2540C>T (p.Ser847Leu)	CBLB (S803L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494085	NM_170662.5(CBLB):c.2531G>A (p.Arg844Gln)	CBLB (R795Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302428	NM_170662.5(CBLB):c.2310T>G (p.Asp770Glu)	CBLB (D798E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408271	NM_170662.5(CBLB):c.2197G>C (p.Val733Leu)	CBLB (V290L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316809	NM_170662.5(CBLB):c.2176T>C (p.Cys726Arg)	CBLB (C677R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589567	NM_170662.5(CBLB):c.2174A>G (p.His725Arg)	CBLB (H282R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263633	NM_170662.5(CBLB):c.2152T>G (p.Ser718Ala)	CBLB (S458A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137971	NM_170662.5(CBLB):c.2115T>A (p.Asp705Glu)	CBLB (D727E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137970	NM_170662.5(CBLB):c.2110G>A (p.Glu704Lys)	CBLB (E261K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545074	NM_170662.5(CBLB):c.2107G>C (p.Glu703Gln)	CBLB (E443Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269198	NM_170662.5(CBLB):c.2026C>G (p.Pro676Ala)	CBLB (P704A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281450	NM_170662.5(CBLB):c.2017C>T (p.Pro673Ser)	CBLB (P673S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271408	NM_170662.5(CBLB):c.2006C>T (p.Pro669Leu)	CBLB (P273L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137968	NM_170662.5(CBLB):c.1931G>T (p.Arg644Leu)	CBLB (R595L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137967	NM_170662.5(CBLB):c.1918C>T (p.Arg640Trp)	CBLB (R197W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540461	NM_170662.5(CBLB):c.1843C>A (p.Pro615Thr)	CBLB (P172T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241599	NM_170662.5(CBLB):c.1820G>A (p.Cys607Tyr)	CBLB (C607Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234273	NM_170662.5(CBLB):c.1811T>G (p.Leu604Arg)	CBLB (L555R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263632	NM_170662.5(CBLB):c.1807C>A (p.Gln603Lys)	CBLB (Q160K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513089	NM_170662.5(CBLB):c.1802C>G (p.Thr601Ser)	CBLB (T205S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137966	NM_170662.5(CBLB):c.1786C>T (p.Arg596Trp)	CBLB (R200W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137965	NM_170662.5(CBLB):c.1628C>T (p.Pro543Leu)	CBLB (P147L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529730	NM_170662.5(CBLB):c.1625A>C (p.Lys542Thr)	CBLB (K282T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137964	NM_170662.5(CBLB):c.1560A>T (p.Arg520Ser)	CBLB (R124S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137963	NM_170662.5(CBLB):c.1560A>C (p.Arg520Ser)	CBLB (R542S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137962	NM_170662.5(CBLB):c.1423A>T (p.Asn475Tyr)	CBLB (N32Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327818	NM_170662.5(CBLB):c.1334C>T (p.Pro445Leu)	CBLB, LOC126806757 (P185L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557998	NM_170662.5(CBLB):c.1315A>G (p.Ile439Val)	CBLB, LOC126806757 (I179V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3137961	NM_170662.5(CBLB):c.1314C>G (p.Ile438Met)	CBLB, LOC126806757 (I389M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309783	NM_170662.5(CBLB):c.1208C>T (p.Ser403Leu)	CBLB, LOC126806757 (S143L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600745	NM_170662.5(CBLB):c.574G>A (p.Val192Ile)	CBLB (V143I +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2336363	NM_170662.5(CBLB):c.562G>C (p.Asp188His)	CBLB (D188H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2593273	NM_170662.5(CBLB):c.485C>A (p.Pro162His)	CBLB (P162H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3137976	NM_170662.5(CBLB):c.359G>A (p.Arg120Gln)	CBLB (R142Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382199	NM_170662.5(CBLB):c.13A>G (p.Met5Val)	CBLB (M27V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365689	NM_170662.5(CBLB):c.5C>A (p.Ala2Glu)	CBLB (A2E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar

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Items: 44