ClinVar for Gene (Select 867) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350017	NM_005188.4(CBL):c.793C>T (p.His265Tyr)	CBL (H265Y)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3348452	NM_005188.4(CBL):c.2202G>A (p.Met734Ile)	CBL (M734I)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3346174	NM_005188.4(CBL):c.1996C>A (p.Pro666Thr)	CBL (P666T)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3345161	NM_005188.4(CBL):c.1432G>C (p.Val478Leu)	CBL (V478L)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3338479	NM_005188.4(CBL):c.116A>C (p.His39Pro)	CBL, LOC130006895 (H39P)	Single nucleotide variant (missense variant)	Hereditary cancer	GUncertain significance
Select item 3337889	NM_005188.4(CBL):c.1292T>C (p.Val431Ala)	CBL (V431A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336021	NM_005188.4(CBL):c.118_129dup (p.Leu43_Ser44insHisHisHisLeu)	CBL, LOC130006895	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3263630	NM_005188.4(CBL):c.559G>A (p.Ala187Thr)	CBL (A187T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263629	NM_005188.4(CBL):c.2356G>T (p.Ala786Ser)	CBL (A786S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263628	NM_005188.4(CBL):c.86T>G (p.Met29Arg)	CBL, LOC130006895 (M29R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263627	NM_005188.4(CBL):c.1187G>T (p.Cys396Phe)	CBL (C396F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263626	NM_005188.4(CBL):c.1452A>C (p.Pro484=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3263624	NM_005188.4(CBL):c.2277T>C (p.His759=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3263623	NM_005188.4(CBL):c.1020T>C (p.Pro340=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3263622	NM_005188.4(CBL):c.596T>C (p.Ile199Thr)	CBL (I199T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263621	NM_005188.4(CBL):c.1939A>C (p.Met647Leu)	CBL (M647L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263620	NM_005188.4(CBL):c.1092C>A (p.Thr364=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3263619	NM_005188.4(CBL):c.1780C>G (p.Pro594Ala)	CBL (P594A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3263617	NM_005188.4(CBL):c.2546C>A (p.Ser849Tyr)	CBL (S849Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3255501	NM_005188.4(CBL):c.392G>C (p.Ser131Thr)	CBL (S131T)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3252722	NM_005188.4(CBL):c.1228-2A>C	CBL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3252626	NM_005188.4(CBL):c.1317_1331del (p.Ser439_Leu443del)	CBL	Deletion (inframe_deletion)	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 3252530	NM_005188.4(CBL):c.878T>G (p.Phe293Cys)	CBL (F293C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251005	NM_005188.4(CBL):c.657G>A (p.Leu219=)	CBL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3244704	NC_000011.9:g.(?_119167608)_(119170491_?)dup	CBL	Duplication	RASopathy	GUncertain significance
Select item 3244703	NC_000011.9:g.(?_119077128)_(119142611_?)dup	CBL	Duplication	RASopathy	GUncertain significance
Select item 3244702	NC_000011.9:g.(?_119103138)_(119158676_?)del	CBL	Deletion	RASopathy	GUncertain significance
Select item 3244701	NC_000011.9:g.(?_119077128)_(119170491_?)del	CBL	Deletion	RASopathy	GUncertain significance
Select item 3224655	NM_005188.4(CBL):c.81G>A (p.Gly27=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224654	NM_005188.4(CBL):c.768G>T (p.Arg256Ser)	CBL (R256S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224653	NM_005188.4(CBL):c.48C>T (p.Gly16=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224652	NM_005188.4(CBL):c.2695T>G (p.Ser899Ala)	CBL (S899A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224651	NM_005188.4(CBL):c.2641G>T (p.Ala881Ser)	CBL (A881S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224650	NM_005188.4(CBL):c.2316T>C (p.Asp772=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224649	NM_005188.4(CBL):c.2246C>A (p.Thr749Asn)	CBL (T749N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224648	NM_005188.4(CBL):c.2144A>T (p.Gln715Leu)	CBL (Q715L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224647	NM_005188.4(CBL):c.1889C>G (p.Pro630Arg)	CBL (P630R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224646	NM_005188.4(CBL):c.1851G>A (p.Arg617=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224645	NM_005188.4(CBL):c.157A>G (p.Lys53Glu)	CBL, LOC130006895 (K53E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224644	NM_005188.4(CBL):c.1472C>T (p.Ala491Val)	CBL (A491V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3137960	NM_005188.4(CBL):c.71G>T (p.Gly24Val)	CBL, LOC130006895 (G24V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3137959	NM_005188.4(CBL):c.670C>G (p.Leu224Val)	CBL (L224V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3137958	NM_005188.4(CBL):c.2156C>G (p.Ala719Gly)	CBL (A719G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3137957	NM_005188.4(CBL):c.1981C>A (p.His661Asn)	CBL (H661N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3066325	NM_005188.4(CBL):c.1166A>G (p.Lys389Arg)	CBL (K389R)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3054207	NM_005188.4(CBL):c.755C>T (p.Ser252Phe)	CBL (S252F)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3051219	NM_005188.4(CBL):c.1710C>A (p.Gly570=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder	GLikely benign
Select item 3042110	NM_005188.4(CBL):c.2135A>T (p.Asp712Val)	CBL (D712V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3038340	NM_005188.4(CBL):c.482T>C (p.Met161Thr)	CBL (M161T)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 3033769	NM_005188.4(CBL):c.1096-6_1101delinsATTATGAATTTTTTTAAAT	CBL	Indel (splice acceptor variant)	CBL-related disorder	GLikely pathogenic
Select item 3029692	NM_005188.3(CBL):c.-95_-94insGAC	CBL, FRA11B +1 more	Insertion	CBL-related disorder	GUncertain significance
Select item 3029505	NM_005188.4(CBL):c.951A>T (p.Thr317=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder	GLikely benign
Select item 3029371	NM_005188.4(CBL):c.486G>C (p.Leu162=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder	GLikely benign
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 3022696	NM_005188.4(CBL):c.2004A>G (p.Ser668=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3020677	NM_005188.4(CBL):c.93C>T (p.Asp31=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3020045	NM_005188.4(CBL):c.1173A>G (p.Val391=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3019378	NM_005188.4(CBL):c.196-4G>A	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3018687	NM_005188.4(CBL):c.1230A>G (p.Glu410=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 3018676	NM_005188.4(CBL):c.1431+15T>C	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3016871	NM_005188.4(CBL):c.2542G>T (p.Ala848Ser)	CBL (A848S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3015036	NM_005188.4(CBL):c.2154-13C>G	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3014982	NM_005188.4(CBL):c.929C>G (p.Ala310Gly)	CBL (A310G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3013995	NM_005188.4(CBL):c.2282A>G (p.Asn761Ser)	CBL (N761S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3012603	NM_005188.4(CBL):c.1406T>C (p.Met469Thr)	CBL (M469T)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 3010320	NM_005188.4(CBL):c.444-14C>A	CBL	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 3002424	NM_005188.4(CBL):c.748-20G>A	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 3001986	NM_005188.4(CBL):c.1942-18C>T	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2990422	NM_005188.4(CBL):c.1527_1528delinsCT (p.Pro510Ser)	CBL (P510S)	Indel (missense variant)	RASopathy	GUncertain significance
Select item 2990316	NM_005188.4(CBL):c.2363G>C (p.Arg788Pro)	CBL (R788P)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2990236	NM_005188.4(CBL):c.591-20C>T	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2989248	NM_005188.4(CBL):c.2152C>T (p.Arg718Ter)	CBL (R718*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2988775	NM_005188.4(CBL):c.471C>G (p.Ile157Met)	CBL (I157M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2981994	NM_005188.4(CBL):c.1717C>T (p.Pro573Ser)	CBL (P573S)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2980583	NM_005188.4(CBL):c.1563+11_1563+17del	CBL	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2976518	NM_005188.4(CBL):c.1917C>G (p.Ser639Arg)	CBL (S639R)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2973446	NM_005188.4(CBL):c.455C>A (p.Thr152Asn)	CBL (T152N)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2964214	NM_005188.4(CBL):c.1965A>G (p.Val655=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2961873	NM_005188.4(CBL):c.192C>A (p.Asp64Glu)	CBL (D64E)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2961326	NM_005188.4(CBL):c.1027C>G (p.Arg343Gly)	CBL (R343G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2960742	NM_005188.4(CBL):c.590+12A>G	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2958279	NM_005188.4(CBL):c.913A>G (p.Ile305Val)	CBL (I305V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2957076	NM_005188.4(CBL):c.1768T>G (p.Trp590Gly)	CBL (W590G)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2954743	NM_005188.4(CBL):c.704A>G (p.Tyr235Cys)	CBL (Y235C)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2920810	NM_005188.4(CBL):c.2606A>G (p.Tyr869Cys)	CBL (Y869C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919093	NM_005188.4(CBL):c.549A>G (p.Lys183=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2918462	NM_005188.4(CBL):c.258C>T (p.Asp86=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2917631	NM_005188.4(CBL):c.2100C>A (p.Tyr700Ter)	CBL (Y700*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2915392	NM_005188.4(CBL):c.1872G>T (p.Leu624Phe)	CBL (L624F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2913993	NM_005188.4(CBL):c.2015C>A (p.Ala672Asp)	CBL (A672D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2913627	NM_005188.4(CBL):c.174G>A (p.Lys58=)	CBL, LOC130006895	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2913134	NM_005188.4(CBL):c.2429CAA[1] (p.Thr811del)	CBL (T811del)	Microsatellite (inframe_deletion)	CBL-related disorder +1 more	GUncertain significance
Select item 2912946	NM_005188.4(CBL):c.2153+12A>G	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2911513	NM_005188.4(CBL):c.710C>A (p.Ser237Ter)	CBL (S237*)	Single nucleotide variant (nonsense)	RASopathy	GUncertain significance
Select item 2910314	NM_005188.4(CBL):c.2037-4C>T	CBL	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2909491	NM_005188.4(CBL):c.1196T>A (p.Leu399His)	CBL (L399H)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance

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