"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302763	NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG	CBL, FRA11B +1 more	Insertion	not provided +2 more	GUncertain significance
Select item 302759	NM_005188.3(CBL):c.-127_-125GGC[13]	CBL, FRA11B +1 more	Microsatellite	Noonan syndrome and Noonan-related syndrome +2 more	GConflicting classifications of pathogenicity
Select item 302758	NM_005188.3(CBL):c.-127_-125GGC[12]	CBL, FRA11B +1 more	Microsatellite	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302765	NM_005188.3(CBL):c.-126_-125insTGG	CBL, FRA11B +1 more	Insertion	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302764	NM_005188.3(CBL):c.-127_-125GGC[8]	CBL, FRA11B +1 more	Microsatellite	not provided +2 more	GConflicting classifications of pathogenicity
Select item 477714	NM_005188.4(CBL):c.6C>G (p.Ala2=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy +3 more	GLikely benign
Select item 1334223	NM_005188.4(CBL):c.16A>C (p.Lys6Gln)	CBL, LOC130006895 (K6Q)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 1334224	NM_005188.4(CBL):c.77T>C (p.Ile26Thr)	CBL, LOC130006895 (I26T)	Single nucleotide variant (missense variant)	RASopathy +1 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 377628	NM_005188.4(CBL):c.195+3G>A	CBL	Single nucleotide variant (intron variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 509999	NM_005188.4(CBL):c.204G>T (p.Arg68=)	CBL	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1334225	NM_005188.4(CBL):c.355A>G (p.Met119Val)	CBL (M119V)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 45209	NM_005188.4(CBL):c.513T>C (p.Ser171=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 1334202	NM_005188.4(CBL):c.534A>G (p.Thr178=)	CBL	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 302776	NM_005188.4(CBL):c.625C>G (p.Leu209Val)	CBL (L209V)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 699854	NM_005188.4(CBL):c.747+10_747+11insTTAT	CBL	Insertion (intron variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 1334226	NM_005188.4(CBL):c.818C>G (p.Thr273Arg)	CBL (T273R)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 699490	NM_005188.4(CBL):c.819G>A (p.Thr273=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 45211	NM_005188.4(CBL):c.869+4A>G	CBL	Single nucleotide variant (intron variant)	RASopathy +6 more	GBenign
Select item 1334227	NM_005188.4(CBL):c.911C>G (p.Ala304Gly)	CBL (A304G)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 1334228	NM_005188.4(CBL):c.1091C>T (p.Thr364Ile)	CBL (T364I)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1053208	NM_005188.4(CBL):c.1100A>G (p.Gln367Arg)	CBL (Q367R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 13807	NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	CBL (Q367P)	Single nucleotide variant (missense variant)	RASopathy +5 more	GPathogenic/Likely pathogenic
Select item 1334229	NM_005188.4(CBL):c.1149A>G (p.Ile383Met)	CBL (I383M)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1334230	NM_005188.4(CBL):c.1178T>C (p.Ile393Thr)	CBL (I393T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334231	NM_005188.4(CBL):c.1212_1223dup (p.Cys404_Ser407dup)	CBL	Duplication (inframe_insertion)	Noonan syndrome and Noonan-related syndrome	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 1334232	NM_005188.4(CBL):c.1246T>A (p.Cys416Ser)	CBL (C416S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 136663	NM_005188.4(CBL):c.1287C>T (p.Ile429=)	CBL	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 180817	NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)	CBL (P433L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 40412	NM_005188.4(CBL):c.1459A>G (p.Met487Val)	CBL (M487V)	Single nucleotide variant (missense variant)	CBL-related disorder +4 more	GBenign/Likely benign
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 45201	NM_005188.4(CBL):c.1485G>A (p.Pro495=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 1334208	NM_005188.4(CBL):c.1516C>T (p.Arg506Ter)	CBL (R506*)	Single nucleotide variant (nonsense)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic
Select item 45202	NM_005188.4(CBL):c.1641T>C (p.Pro547=)	CBL	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +6 more	GBenign/Likely benign
Select item 179387	NM_005188.4(CBL):c.1647C>A (p.Asp549Glu)	CBL (D549E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1334233	NM_005188.4(CBL):c.1687C>T (p.Arg563Cys)	CBL (R563C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 543991	NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)	CBL (R585C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1334234	NM_005188.4(CBL):c.1794A>G (p.Val598=)	CBL	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome	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 1334235	NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)	CBL (S642N)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 1334287	NM_005188.4(CBL):c.1930G>T (p.Asp644Tyr)	CBL (D644Y)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic
Select item 280204	NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)	CBL (S648R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 240121	NM_005188.4(CBL):c.2036+9G>T	CBL	Single nucleotide variant (intron variant)	Noonan syndrome and Noonan-related syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1334236	NM_005188.4(CBL):c.2049G>A (p.Val683=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 180822	NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)	CBL (P687L)	Single nucleotide variant (missense variant)	not specified +4 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 136665	NM_005188.4(CBL):c.2190G>C (p.Thr730=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder +6 more	GBenign/Likely benign
Select item 40418	NM_005188.4(CBL):c.2216C>T (p.Ser739Phe)	CBL (S739F)	Single nucleotide variant (missense variant)	not specified +4 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 +6 more	GBenign/Likely benign
Select item 40420	NM_005188.4(CBL):c.2312A>T (p.Asp771Val)	CBL (D771V)	Single nucleotide variant (missense variant)	not specified +4 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 178012	NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)	CBL (R787C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1334237	NM_005188.4(CBL):c.2433A>G (p.Thr811=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GUncertain significance
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 849576	NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)	CBL (R829W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 1334238	NM_005188.4(CBL):c.2544C>T (p.Ala848=)	CBL	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 302788	NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)	CBL (L857F)	Single nucleotide variant (missense variant)	CBL-related disorder +3 more	GBenign/Likely benign
Select item 45208	NM_005188.4(CBL):c.2592C>T (p.Leu864=)	CBL	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 1334239	NM_005188.4(CBL):c.2708A>G (p.His903Arg)	CBL (H903R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 133813	NM_005188.4(CBL):c.2710G>A (p.Val904Ile)	CBL (V904I)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GBenign/Likely benign
Select item 210588	NM_005188.4(CBL):c.559_560insC	CBL	Insertion (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 210589	NM_005188.4(CBL):c.560_561insAT	CBL	Insertion (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely benign
Select item 1334240	NM_005188.4(CBL):c.*3927G>A	CBL	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 302903	NM_005188.4(CBL):c.*7578TC[1]	CBL	Microsatellite (3 prime UTR variant)	Noonan-like syndrome +1 more	GBenign/Likely benign

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Items: 66