"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CBL"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027325	NM_005188.4(CBL):c.105G>T (p.Pro35=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 40400	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	RASopathy +8 more	GBenign/Likely benign
Select item 2144546	NM_005188.4(CBL):c.185T>A (p.Leu62His)	CBL, LOC130006895 (L62H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2642460	NM_005188.4(CBL):c.392G>A (p.Ser131Asn)	CBL (S131N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642461	NM_005188.4(CBL):c.393C>T (p.Ser131=)	CBL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1980949	NM_005188.4(CBL):c.561G>A (p.Ala187=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 2642462	NM_005188.4(CBL):c.729C>T (p.Ile243=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related condition +2 more	GLikely benign
Select item 1569315	NM_005188.4(CBL):c.1008-8C>T	CBL	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1675475	NM_005188.4(CBL):c.1069C>T (p.Pro357Ser)	CBL (P357S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372758	NM_005188.4(CBL):c.1096-7A>G	CBL	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 13807	NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	CBL (Q367P)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1435637	NM_005188.4(CBL):c.1119G>T (p.Glu373Asp)	CBL (E373D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1686542	NM_005188.4(CBL):c.1222T>C (p.Trp408Arg)	CBL (W408R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45198	NM_005188.4(CBL):c.1227+4C>T	CBL	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +6 more	GBenign/Likely benign
Select item 975833	NM_005188.4(CBL):c.1247G>C (p.Cys416Ser)	CBL (C416S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 136663	NM_005188.4(CBL):c.1287C>T (p.Ile429=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +6 more	GBenign/Likely benign
Select item 477695	NM_005188.4(CBL):c.1299G>A (p.Pro433=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related condition +3 more	GBenign/Likely benign
Select item 45200	NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup)	CBL	Microsatellite (inframe_insertion)	not specified +2 more	GBenign/Likely benign
Select item 1401737	NM_005188.4(CBL):c.1468C>G (p.Gln490Glu)	CBL (Q490E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 302781	NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)	CBL (P510A)	Single nucleotide variant (missense variant)	CBL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 45202	NM_005188.4(CBL):c.1641T>C (p.Pro547=)	CBL	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 179387	NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)	CBL (D549E)	Single nucleotide variant (missense variant)	RASopathy +6 more	GBenign/Likely benign
Select item 806749	NM_005188.4(CBL):c.1804G>T (p.Ala602Ser)	CBL (A602S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1149389	NM_005188.4(CBL):c.1911C>T (p.Leu637=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GLikely benign
Select item 705117	NM_005188.4(CBL):c.2073A>G (p.Gln691=)	CBL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 136665	NM_005188.4(CBL):c.2190G>C (p.Thr730=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +7 more	GBenign/Likely benign
Select item 40418	NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)	CBL (S739F)	Single nucleotide variant (missense variant)	CBL-related condition +5 more	GBenign/Likely benign
Select item 40419	NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)	CBL (A757T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +5 more	GBenign/Likely benign
Select item 40420	NM_005188.4(CBL):c.2312A>T (p.Asp771Val)	CBL (D771V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 40421	NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)	CBL (P782L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 40424	NM_005188.4(CBL):c.2484G>A (p.Pro828=)	CBL	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +6 more	GConflicting classifications of pathogenicity
Select item 45205	NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)	CBL (R829Q)	Single nucleotide variant (missense variant)	CBL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 434592	NM_005188.4(CBL):c.2513G>T (p.Gly838Val)	CBL (G838V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GConflicting classifications of pathogenicity
Select item 40425	NM_005188.4(CBL):c.2542G>A (p.Ala848Thr)	CBL (A848T)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 40427	NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)	CBL (N863S)	Single nucleotide variant (missense variant)	RASopathy +5 more	GConflicting classifications of pathogenicity
Select item 133813	NM_005188.4(CBL):c.2710G>A (p.Val904Ile)	CBL (V904I)	Single nucleotide variant (missense variant)	CBL-related disorder +6 more	GBenign/Likely benign
Select item 302795	NM_005188.4(CBL):c.*567G>A	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 302796	NM_005188.4(CBL):c.*615C>T	CBL	Single nucleotide variant (3 prime UTR variant)	Juvenile myelomonocytic leukemia +2 more	GConflicting classifications of pathogenicity
Select item 302797	NM_005188.4(CBL):c.*918T>C	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302815	NM_005188.4(CBL):c.*1918C>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 302821	NM_005188.4(CBL):c.*2176T>C	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder +1 more	GBenign/Likely benign
Select item 302822	NM_005188.4(CBL):c.*2224A>G	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302831	NM_005188.4(CBL):c.*3154C>T	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 302842	NM_005188.4(CBL):c.*4031C>G	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 302866	NM_005188.4(CBL):c.*5632C>T	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 302887	NM_005188.4(CBL):c.*6575G>C	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 302889	NM_005188.4(CBL):c.*6703T>C	CBL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 47