"GeneDx"[submitter] AND "CBL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1216256	NC_000011.10:g.119206253C>T	CBL, LOC130006894	Single nucleotide variant	not provided	GLikely benign
Select item 302760	NM_005188.3(CBL):c.-127_-125GGC[14]	CBL, FRA11B +1 more	Microsatellite	Noonan-like syndrome +1 more	GConflicting classifications of pathogenicity
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 1262807	NC_000011.10:g.119206291GGC[10]	CBL, FRA11B +1 more	Microsatellite	not provided	GBenign
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 302767	NM_005188.3(CBL):c.-125C>T	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder +1 more	GBenign
Select item 1214031	NC_000011.10:g.119206302C>T	CBL, FRA11B +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 302772	NM_005188.3(CBL):c.-96G>A	CBL, FRA11B +1 more	Single nucleotide variant	CBL-related disorder +1 more	GBenign/Likely benign
Select item 1291108	NM_005188.4(CBL):c.-44AGCCG[3]	CBL	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1262370	NM_005188.4(CBL):c.-26G>C	CBL	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 928886	NM_005188.4(CBL):c.-5A>G	CBL	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1463879	NM_005188.4(CBL):c.8G>T (p.Gly3Val)	CBL, LOC130006895 (G3V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 179790	NM_005188.4(CBL):c.12C>T (p.Asn4=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3224653	NM_005188.4(CBL):c.48C>T (p.Gly16=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 513893	NM_005188.4(CBL):c.60G>T (p.Ser20=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 477693	NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)	CBL, LOC130006895	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
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 424259	NM_005188.4(CBL):c.120C>G (p.His40Gln)	CBL, LOC130006895 (H40Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961873	NM_005188.4(CBL):c.192C>A (p.Asp64Glu)	CBL (D64E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 561897	NM_005188.4(CBL):c.192C>G (p.Asp64Glu)	CBL (D64E)	Single nucleotide variant (missense variant)	CBL-related disorder +2 more	GUncertain significance
Select item 1810489	NM_005188.4(CBL):c.193A>C (p.Lys65Gln)	CBL (K65Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1302346	NM_005188.4(CBL):c.195+12G>T	CBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302413	NM_005188.4(CBL):c.195+13C>T	CBL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185871	NM_005188.4(CBL):c.195+22C>T	CBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294288	NM_005188.4(CBL):c.195+76G>C	CBL	Single nucleotide variant (intron variant)	not provided	GBenign
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 1328747	NM_005188.4(CBL):c.203G>A (p.Arg68Gln)	CBL (R68Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1878882	NM_005188.4(CBL):c.229C>A (p.Leu77Ile)	CBL (L77I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684131	NM_005188.4(CBL):c.251T>G (p.Ile84Ser)	CBL (I84S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928956	NM_005188.4(CBL):c.287G>A (p.Arg96His)	CBL (R96H)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 40401	NM_005188.4(CBL):c.306T>G (p.Tyr102Ter)	CBL (Y102*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 932225	NM_005188.4(CBL):c.347G>T (p.Arg116Met)	CBL (R116M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 561940	NM_005188.4(CBL):c.444-282G>A	CBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206862	NM_005188.4(CBL):c.444-73G>T	CBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 78201	NM_005188.4(CBL):c.445C>T (p.Arg149Ter)	CBL (R149*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 1306229	NM_005188.4(CBL):c.467T>G (p.Leu156Arg)	CBL (L156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180812	NM_005188.4(CBL):c.469A>G (p.Ile157Val)	CBL (I157V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2501347	NM_005188.4(CBL):c.481A>G (p.Met161Val)	CBL (M161V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 567279	NM_005188.4(CBL):c.498A>C (p.Lys166Asn)	CBL (K166N)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2497794	NM_005188.4(CBL):c.500G>A (p.Gly167Glu)	CBL (G167E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252553	NM_005188.4(CBL):c.502A>G (p.Ile168Val)	CBL (I168V)	Single nucleotide variant (missense variant)	not provided	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 424312	NM_005188.4(CBL):c.525G>T (p.Gln175His)	CBL (Q175H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180813	NM_005188.4(CBL):c.539G>A (p.Arg180Gln)	CBL (R180Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183737	NM_005188.4(CBL):c.590+222C>G	CBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561493	NM_005188.4(CBL):c.591-176A>G	CBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 45210	NM_005188.4(CBL):c.595A>G (p.Ile199Val)	CBL (I199V)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 1302348	NM_005188.4(CBL):c.622G>A (p.Ala208Thr)	CBL (A208T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392830	NM_005188.4(CBL):c.627A>G (p.Leu209=)	CBL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 372891	NM_005188.4(CBL):c.665T>C (p.Met222Thr)	CBL (M222T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 40402	NM_005188.4(CBL):c.698A>G (p.Asn233Ser)	CBL (N233S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1320641	NM_005188.4(CBL):c.747+74dup	CBL	Duplication (intron variant)	not provided	GLikely benign
Select item 1188336	NM_005188.4(CBL):c.747+73_747+74del	CBL	Deletion (intron variant)	not provided	GLikely benign
Select item 561424	NM_005188.4(CBL):c.747+79A>G	CBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213187	NM_005188.4(CBL):c.747+143del	CBL	Deletion (intron variant)	not provided	GLikely benign
Select item 561834	NM_005188.4(CBL):c.748-268A>G	CBL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561675	NM_005188.4(CBL):c.748-142G>A	CBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2580603	NM_005188.4(CBL):c.773G>A (p.Trp258Ter)	CBL (W258*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1231456	NM_005188.4(CBL):c.825C>T (p.Asp275=)	CBL	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1427866	NM_005188.4(CBL):c.829G>T (p.Val277Leu)	CBL (V277L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 279922	NM_005188.4(CBL):c.839G>A (p.Arg280Gln)	CBL (R280Q)	Single nucleotide variant (missense 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 513305	NM_005188.4(CBL):c.869+15G>A	CBL	Single nucleotide variant (intron variant)	CBL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 511153	NM_005188.4(CBL):c.869+18A>G	CBL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 55795	NM_005188.4(CBL):c.869+19A>G	CBL	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign
Select item 1243320	NM_005188.4(CBL):c.869+44dup	CBL	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1185801	NM_005188.4(CBL):c.869+212G>A	CBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561941	NM_005188.4(CBL):c.869+258C>A	CBL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 40403	NM_005188.4(CBL):c.870-48G>C	CBL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 418110	NM_005188.4(CBL):c.870-19del	CBL	Deletion (intron variant)	RASopathy +2 more	GBenign/Likely benign
Select item 383007	NM_005188.4(CBL):c.873T>C (p.Tyr291=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 3252530	NM_005188.4(CBL):c.878T>G (p.Phe293Cys)	CBL (F293C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507074	NM_005188.4(CBL):c.896G>C (p.Arg299Pro)	CBL (R299P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118691	NM_005188.4(CBL):c.938A>G (p.Asn313Ser)	CBL (N313S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1947914	NM_005188.4(CBL):c.952A>G (p.Ile318Val)	CBL (I318V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 180825	NM_005188.4(CBL):c.976del (p.Gln326fs)	CBL (Q326fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1254904	NM_005188.4(CBL):c.1007+240_1007+243del	CBL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1421913	NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)	CBL (R343*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 1699868	NM_005188.4(CBL):c.1061A>G (p.Glu354Gly)	CBL (E354G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 40404	NM_005188.4(CBL):c.1076_1087del (p.Asp359_Lys362del)	CBL	Deletion (inframe_deletion)	RASopathy	GPathogenic
Select item 1677649	NM_005188.4(CBL):c.1078C>T (p.His360Tyr)	CBL (H360Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136662	NM_005188.4(CBL):c.1095+18T>G	CBL	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 55796	NM_005188.4(CBL):c.1095+19G>T	CBL	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 504461	NM_005188.4(CBL):c.1096-20T>C	CBL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 372758	NM_005188.4(CBL):c.1096-7A>G	CBL	Single nucleotide variant (intron variant)	RASopathy +1 more	GUncertain significance
Select item 45197	NM_005188.4(CBL):c.1096-4_1096-1del	CBL	Deletion (splice acceptor variant)	RASopathy +1 more	GPathogenic/Likely pathogenic
Select item 180815	NM_005188.4(CBL):c.1096-1G>T	CBL	Single nucleotide variant (splice acceptor variant)	Noonan syndrome +3 more	GPathogenic
Select item 523667	NM_005188.4(CBL):c.1099_1101del (p.Gln367del)	CBL (Q367del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1712083	NM_005188.4(CBL):c.1103_1108del (p.Tyr368_Glu369del)	CBL	Deletion (inframe_deletion)	not provided	GPathogenic
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 2137268	NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)	CBL (Y371D)	Single nucleotide variant (missense variant)	CBL-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 13811	NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	CBL (Y371H)	Single nucleotide variant (missense variant)	CBL-related disorder +4 more	GPathogenic

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