"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CBL"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302766	NM_005188.4(CBL):c.-125_-116delinsT	CBL, FRA11B +1 more	Indel	Noonan-like syndrome +2 more	GUncertain significance
Select item 302769	NM_005188.3(CBL):c.-122C>T	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder +1 more	GUncertain significance
Select item 488171	NM_005188.4(CBL):c.93C>A (p.Asp31Glu)	CBL, LOC130006895 (D31E)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 40400	NM_005188.4(CBL):c.107ACC[8] (p.His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	not specified +7 more	GBenign/Likely benign
Select item 180808	NM_005188.4(CBL):c.107ACC[6] (p.His42del)	CBL, LOC130006895 (H42del)	Microsatellite (inframe_deletion)	Juvenile myelomonocytic leukemia +2 more	GBenign/Likely benign
Select item 180811	NM_005188.4(CBL):c.202C>T (p.Arg68Trp)	CBL (R68W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1018257	NM_005188.4(CBL):c.286C>T (p.Arg96Cys)	CBL (R96C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1427831	NM_005188.4(CBL):c.572G>C (p.Arg191Thr)	CBL (R191T)	Single nucleotide variant (missense variant)	CBL-related disorder +2 more	GUncertain significance
Select item 180814	NM_005188.4(CBL):c.838C>T (p.Arg280Trp)	CBL (R280W)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 55795	NM_005188.4(CBL):c.869+19A>G	CBL	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign
Select item 1396535	NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)	CBL (R343Q)	Single nucleotide variant (missense variant)	CBL-related disorder +2 more	GUncertain significance
Select item 45196	NM_005188.4(CBL):c.1096-1G>C	CBL	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 1303928	NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)	CBL (D388G)	Single nucleotide variant (missense variant)	CBL-related disorder +3 more	GUncertain significance
Select item 45198	NM_005188.4(CBL):c.1227+4C>T	CBL	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +5 more	GBenign/Likely benign
Select item 936347	NM_005188.4(CBL):c.1227+5G>A	CBL	Single nucleotide variant (intron variant)	RASopathy +3 more	GUncertain significance
Select item 1332902	NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)	CBL (G415S)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
Select item 1415547	NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)	CBL (P428S)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 1337135	NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)	CBL (P433Q)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 477696	NM_005188.4(CBL):c.1324C>A (p.Leu442Met)	CBL (L442M)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 877348	NM_005188.4(CBL):c.1353C>T (p.Pro451=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder +2 more	GLikely benign
Select item 477697	NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)	CBL (G475S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1380621	NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)	CBL (F485L)	Single nucleotide variant (missense variant)	CBL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 120247	NM_005188.4(CBL):c.1463C>T (p.Ala488Val)	CBL (A488V)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GUncertain significance
Select item 378875	NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)	CBL (P495L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 240119	NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)	CBL (P504L)	Single nucleotide variant (missense variant)	CBL-related disorder +3 more	GUncertain significance
Select item 1388163	NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)	CBL (R540*)	Single nucleotide variant (nonsense)	CBL-related disorder +2 more	GUncertain significance
Select item 951269	NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)	CBL (R540Q)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 565396	NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)	CBL (R559Q)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GConflicting classifications of pathogenicity
Select item 846971	NM_005188.4(CBL):c.1783A>G (p.Ile595Val)	CBL (I595V)	Single nucleotide variant (missense variant)	RASopathy +5 more	GUncertain significance
Select item 372851	NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)	CBL (R617L)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	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 477698	NM_005188.4(CBL):c.1927C>T (p.Leu643=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 477704	NM_005188.4(CBL):c.2055A>G (p.Lys685=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 240122	NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)	CBL (E695K)	Single nucleotide variant (missense variant)	CBL-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1354447	NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)	CBL (E696K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 543979	NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)	CBL (R718Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 699089	NM_005188.4(CBL):c.2349C>T (p.Ala783=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 40422	NM_005188.4(CBL):c.2350G>A (p.Val784Met)	CBL (V784M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 842157	NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)	CBL (S799del)	Microsatellite (inframe_deletion)	See cases +4 more	GUncertain significance
Select item 1504217	NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)	CBL (G801C)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 1494351	NM_005188.4(CBL):c.2435-1_2435del	CBL	Deletion (splice acceptor variant)	RASopathy +2 more	GUncertain significance
Select item 1347603	NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)	CBL (E834D)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
Select item 434592	NM_005188.4(CBL):c.2513G>T (p.Gly838Val)	CBL (G838V)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 940069	NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)	CBL (C840Y)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 654074	NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)	CBL (C840W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 133812	NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)	CBL (S844R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 40426	NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)	CBL (E862K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 302796	NM_005188.4(CBL):c.*615C>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 48