ClinVar for MedGen (Select 462153) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	CBL-related disorder	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 2913134	NM_005188.4(CBL):c.2429CAA[1] (p.Thr811del)	CBL (T811del)	Microsatellite (inframe_deletion)	RASopathy +1 more	GUncertain significance
Select item 2665021	NM_005188.4(CBL):c.195+6902A>G	CBL	Single nucleotide variant (intron variant)	CBL-related disorder	GUncertain significance
Select item 2664899	NM_005188.4(CBL):c.2482C>G (p.Pro828Ala)	CBL (P828A)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 2663973	NM_005188.4(CBL):c.1126T>C (p.Ser376Pro)	CBL (S376P)	Single nucleotide variant (missense variant)	CBL-related disorder +1 more	GUncertain significance
Select item 2642462	NM_005188.4(CBL):c.729C>T (p.Ile243=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GLikely benign
Select item 2633276	NM_005188.4(CBL):c.2434+5G>A	CBL	Single nucleotide variant (intron variant)	CBL-related disorder	GUncertain significance
Select item 2632695	NM_005188.4(CBL):c.1986del (p.Ile664fs)	CBL (I664fs)	Deletion (frameshift variant)	CBL-related disorder	GUncertain significance
Select item 2632494	NM_005188.4(CBL):c.1888C>T (p.Pro630Ser)	CBL (P630S)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 2631417	NM_005188.4(CBL):c.346A>G (p.Arg116Gly)	CBL (R116G)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2629440	NM_005188.4(CBL):c.1984C>T (p.Pro662Ser)	CBL (P662S)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 2628411	NM_005188.4(CBL):c.590+3A>C	CBL	Single nucleotide variant (intron variant)	CBL-related disorder +1 more	GUncertain significance
Select item 2582415	NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)	CBL (I885T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 2573024	NM_005188.4(CBL):c.509C>T (p.Pro170Leu)	CBL (P170L)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 2414493	NM_005188.4(CBL):c.1504C>T (p.Leu502Phe)	CBL (L502F)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2185259	NM_005188.4(CBL):c.1547T>C (p.Leu516Pro)	CBL (L516P)	Single nucleotide variant (missense variant)	CBL-related disorder +1 more	GUncertain significance
Select item 2165160	NM_005188.4(CBL):c.880C>T (p.Arg294Trp)	CBL (R294W)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2137268	NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)	CBL (Y371D)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 2131224	NM_005188.4(CBL):c.1831G>C (p.Gly611Arg)	CBL (G611R)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 2052452	NM_005188.4(CBL):c.1431+10C>T	CBL	Single nucleotide variant (intron variant)	RASopathy +2 more	GLikely benign
Select item 1919548	NM_005188.4(CBL):c.646A>G (p.Ser216Gly)	CBL (S216G)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1774611	NM_005188.4(CBL):c.1530C>G (p.Pro510=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1700195	NM_005188.4(CBL):c.1007+2T>A	CBL	Single nucleotide variant (splice donor variant)	CBL-related disorder	GLikely pathogenic
Select item 1698992	NM_005188.4(CBL):c.1135C>A (p.Gln379Lys)	CBL (Q379K)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 1684572	NM_005188.4(CBL):c.2120C>G (p.Pro707Arg)	CBL (P707R)	Single nucleotide variant (missense variant)	CBL-related disorder +1 more	GUncertain significance
Select item 1653003	NM_005188.4(CBL):c.1777C>T (p.Arg593Trp)	CBL (R593W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1651339	NM_005188.4(CBL):c.2169C>T (p.Asp723=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1643101	NM_005188.4(CBL):c.1638G>A (p.Pro546=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1616980	NM_005188.4(CBL):c.837T>C (p.Ala279=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1616881	NM_005188.4(CBL):c.1221C>T (p.Ser407=)	CBL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1587901	NM_005188.4(CBL):c.714T>G (p.Val238=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder +2 more	GLikely benign
Select item 1567515	NM_005188.4(CBL):c.2292C>T (p.Pro764=)	CBL	Single nucleotide variant (synonymous variant)	CBL-related disorder +1 more	GLikely benign
Select item 1535654	NM_005188.4(CBL):c.951A>G (p.Thr317=)	CBL	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GLikely benign
Select item 1507887	NM_005188.4(CBL):c.1744C>A (p.Pro582Thr)	CBL (P582T)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1504217	NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)	CBL (G801C)	Single nucleotide variant (missense variant)	RASopathy +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 1427831	NM_005188.4(CBL):c.572G>C (p.Arg191Thr)	CBL (R191T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 1421913	NM_005188.4(CBL):c.1027C>T (p.Arg343Ter)	CBL (R343*)	Single nucleotide variant (nonsense)	RASopathy +2 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 1396535	NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)	CBL (R343Q)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 1388163	NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)	CBL (R540*)	Single nucleotide variant (nonsense)	RASopathy +2 more	GUncertain significance
Select item 1386678	NM_005188.4(CBL):c.1745C>T (p.Pro582Leu)	CBL (P582L)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1385603	NM_005188.4(CBL):c.1199T>C (p.Met400Thr)	CBL (M400T)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 1380621	NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)	CBL (F485L)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 1354447	NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)	CBL (E696K)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GConflicting classifications of pathogenicity
Select item 1352881	NM_005188.4(CBL):c.1193A>G (p.His398Arg)	CBL (H398R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1347603	NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)	CBL (E834D)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1338196	NM_005188.4(CBL):c.660G>A (p.Glu220=)	CBL	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 1332902	NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)	CBL (G415S)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 1303928	NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)	CBL (D388G)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
Select item 1184332	NM_005188.4(CBL):c.444-6862G>A	CBL	Single nucleotide variant (intron variant)	CBL-related disorder	GUncertain significance
Select item 1029944	NM_005188.4(CBL):c.1681C>T (p.Gln561Ter)	CBL (Q561*)	Single nucleotide variant (nonsense)	CBL-related disorder	GUncertain significance
Select item 1027363	NM_005188.4(CBL):c.710C>T (p.Ser237Leu)	CBL (S237L)	Single nucleotide variant (missense variant)	CBL-related disorder	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 975833	NM_005188.4(CBL):c.1247G>C (p.Cys416Ser)	CBL (C416S)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
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 945278	NM_005188.4(CBL):c.664A>C (p.Met222Leu)	CBL (M222L)	Single nucleotide variant (missense variant)	CBL-related disorder +3 more	GUncertain significance
Select item 940069	NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)	CBL (C840Y)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 936347	NM_005188.4(CBL):c.1227+5G>A	CBL	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 935811	NM_005188.4(CBL):c.2041_2044inv (p.Leu681_Pro682delinsGluAla)	CBL	Inversion (missense variant)	CBL-related disorder +1 more	GUncertain significance
Select item 931971	NM_005188.4(CBL):c.680C>G (p.Thr227Ser)	CBL (T227S)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 931865	NM_005188.4(CBL):c.461T>C (p.Leu154Pro)	CBL (L154P)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 931288	NM_005188.4(CBL):c.508C>T (p.Pro170Ser)	CBL (P170S)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 930804	NM_005188.4(CBL):c.2444A>C (p.Glu815Ala)	CBL (E815A)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 928886	NM_005188.4(CBL):c.-5A>G	CBL	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 918146	NM_005188.4(CBL):c.1648C>T (p.Arg550Trp)	CBL (R550W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 880421	NM_005188.4(CBL):c.*7601G>A	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880420	NM_005188.4(CBL):c.*7241A>G	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880381	NM_005188.4(CBL):c.*6261A>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880337	NM_005188.4(CBL):c.*4755A>C	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880336	NM_005188.4(CBL):c.*4716C>G	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880298	NM_005188.4(CBL):c.*3399T>C	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880297	NM_005188.4(CBL):c.*3153C>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880296	NM_005188.4(CBL):c.*3031A>C	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880236	NM_005188.4(CBL):c.*1581G>A	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880235	NM_005188.4(CBL):c.*1252G>A	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880234	NM_005188.4(CBL):c.*1164T>G	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 880188	NM_005188.4(CBL):c.2399T>G (p.Phe800Cys)	CBL (F800C)	Single nucleotide variant (missense variant)	CBL-related disorder +1 more	GUncertain significance
Select item 880137	NM_005188.4(CBL):c.1193A>C (p.His398Pro)	CBL (H398P)	Single nucleotide variant (missense variant)	CBL-related disorder	GUncertain significance
Select item 879280	NM_005188.4(CBL):c.*8318C>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879226	NM_005188.4(CBL):c.*7030T>G	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879225	NM_005188.4(CBL):c.*6872A>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879224	NM_005188.4(CBL):c.*6806T>C	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879176	NM_005188.4(CBL):c.*5953C>G	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879175	NM_005188.4(CBL):c.*5944C>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879124	NM_005188.4(CBL):c.*4667G>A	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879123	NM_005188.4(CBL):c.*4542C>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879122	NM_005188.4(CBL):c.*4337C>T	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879071	NM_005188.4(CBL):c.*2174G>A	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879020	NM_005188.4(CBL):c.*1059G>A	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance
Select item 879019	NM_005188.4(CBL):c.*660A>G	CBL	Single nucleotide variant (3 prime UTR variant)	CBL-related disorder	GUncertain significance

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